{"id":11441,"date":"2020-04-28T13:52:38","date_gmt":"2020-04-28T11:52:38","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/ag-kornak\/"},"modified":"2026-01-26T13:38:51","modified_gmt":"2026-01-26T12:38:51","slug":"kornak-research-group","status":"publish","type":"page","link":"https:\/\/www.humangenetik-umg.de\/en\/research\/kornak-research-group\/","title":{"rendered":"Kornak Research Group"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row attached=&#8221;true&#8221; padding=&#8221;2&#8243;][vc_column][vc_empty_space height=&#8221;50&#8243;][vc_column_text align=&#8221;center&#8221; css=&#8221;.vc_custom_1588234495148{margin-bottom: 0px !important;}&#8221;]\n<h1 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Kornak Research Group<br \/>\n<\/span><\/h1>\n[\/vc_column_text][vc_empty_space height=&#8221;50px&#8221;][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text css=&#8221;.vc_custom_1750942835337{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Gizem Chelik<br \/>\n<\/strong>PhD student<br \/>\n<a href=\"mailto:gizem.chelik@med.uni-goettingen.de\">gizem.chelik@med.uni-goettingen.de<\/a><\/p>\n<p style=\"text-align: left;\"><strong>Dario Gajewski<br \/>\n<\/strong>PostDoc<br \/>\n<a href=\"mailto:dario.gajewski@med.uni-goettingen.de\">dario.gajewski@med.uni-goettingen.de<\/a><\/p>\n[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text css=&#8221;.vc_custom_1750942771393{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Regina Gr\u00fcn<br \/>\n<\/strong>PostDoc<br \/>\n<a href=\"mailto:regina.gruen1@med.uni-goettingen.de\">regina.gruen1@med.uni-goettingen.de<\/a><\/p>\n<p style=\"text-align: left;\"><strong>Prof. Dr. rer. nat. Uwe Kornak<br \/>\n<\/strong>Group leader<br \/>\n<a href=\"mailto:uwe.kornak@med.uni-goettingen.de\">uwe.kornak@med.uni-goettingen.de<\/a><\/p>\n[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space height=&#8221;80&#8243;][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1750942899305{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\">In cooperation with Dr. rer. medic. Bj\u00f6rn Fischer-Zirnsak, Dr. rer. nat. Salaheddine Ali and Dr. rer. nat. Daniel Ibrahim, Charit\u00e9 University Medicine Berlin and Berlin Institute of Health (BIH).<\/p>\n[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space height=&#8221;20&#8243;][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text css=&#8221;.vc_custom_1750942940427{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\">Former members:<\/p>\n<p>Dr. rer. nat. Wing Lee Chan<br \/>\nDr. rer. nat. Floriane Hennig<br \/>\ncand. Dr. rer. nat. Johannes Kopp<br \/>\nDr. rer. nat. Uta R\u00f6ssler<br \/>\nDr. rer. nat. Guido Vogt[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space height=&#8221;80&#8243;][\/vc_column][\/vc_row][vc_row fullwidth=&#8221;true&#8221; fullwidth_content=&#8221;false&#8221; css=&#8221;.vc_custom_1476449324164{border-top-width: 0px !important;border-right-width: 0px !important;border-bottom-width: 0px !important;background-color: #ff9900 !important;border-right-color: #ffffff !important;border-right-style: solid !important;border-top-color: #ffffff !important;border-top-style: solid !important;border-bottom-color: #ffffff !important;border-bottom-style: solid !important;}&#8221; el_class=&#8221;ankernavigation-dark&#8221;][vc_column width=&#8221;1\/3&#8243; el_class=&#8221;anker-first&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"\/kornak-research-group\/#focus\">Focus<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/3&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"\/kornak-research-group\/#projects\">Projects<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/3&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"\/kornak-research-group\/#publications\">Publications<\/a>[\/mk_fancy_title][\/vc_column][\/vc_row][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;focus&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_empty_space height=&#8221;100&#8243;][vc_column_text css=&#8221;.vc_custom_1588234726395{margin-bottom: 0px !important;}&#8221;]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Focus<\/span><\/h2>\n[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_row_inner attached=&#8221;true&#8221; css=&#8221;.vc_custom_1473681486579{padding-top: 3px !important;padding-right: 3px !important;padding-bottom: 3px !important;padding-left: 3px !important;}&#8221;][vc_column_inner][vc_empty_space][mk_padding_divider size=&#8221;25&#8243;][\/vc_column_inner][\/vc_row_inner][mk_custom_list icon_color=&#8221;#ff9900&#8243; el_class=&#8221;custom-list&#8221;]\n<ul>\n<li>Genetic causes and molecular mechanisms of skeletal disorders<\/li>\n<li>Progeroid connective tissue disorders and mechanisms of aging<\/li>\n<li>Non-coding variations and enhancer architecture of the skeleton<\/li>\n<li>Golgi compartment and intracellular transport<\/li>\n<li>In vitro disease models derived from induced pluripotent stem cells (iPSC)<\/li>\n<li>Gene therapies for rare bone disorders<\/li>\n<\/ul>\n[\/mk_custom_list][vc_empty_space][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;projects&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_empty_space height=&#8221;100&#8243;][vc_column_text css=&#8221;.vc_custom_1588234939484{margin-bottom: 0px !important;}&#8221;]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Projects<\/span><\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;32&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1588234982554{margin-bottom: 0px !important;}&#8221;]\n<h2>Rare skeletal diseases hidden under common diagnoses<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1588235043641{margin-bottom: 0px !important;}&#8221;]Osteogenesis imperfecta (OI) is a rare disease with early onset and typical clinical features including a high risk of fractures. Multigene panel sequencing allows for identifying 96% to 98% of classical OI cases. However, there are also patients with rare conditions that are more difficult to diagnose based on their clinical picture, because they manifest later in life and lack characteristic features. Such patients are often diagnosed with a common disorder. Early-onset osteoporosis (EOOP) is a typical example of such a condition. Systematic multigene panel analysis established the diagnosis of a monogenic rare disorder in 20% of such unclear cases. We aim at detecting these patients as early as possible and improving the detection rate by unravelling novel genetic causes. It becomes increasingly clear that a proportion of patients do not carry typical variations in protein-encoding genes but in non-coding genomic regions. Their identification requires whole-genome sequencing, and detailed understanding of the enhancer architecture of the relevant cell types (the skeletal regulome) is needed to interpret identified variants.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;progerien&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; align=&#8221;right&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1588235083614{margin-bottom: 0px !important;}&#8221;]\n<h2>From osteoporosis to mechanisms of aging<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1588235100454{margin-bottom: 0px !important;}&#8221;]Early-onset osteoporosis can be viewed as a unimodal progeroid disease. In contrast, segmental progeroid disorders are characterized by premature appearance of processes that resemble physiological aging and involve multiple organs or tissues. These conditions serve as valuable models for investigating genetic factors and physiological pathways that contribute to aging. By our research into progeroid disorders and their underlying pathomechanisms, we strive to gain a better understanding of aging processes. Specifically, we focus on pertinent topics such as energy metabolism, cellular senescence, TGF-beta signaling as well as transport and modification of extracellular matrix proteins in the Golgi compartment.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][\/mk_page_section][mk_page_section][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1588235146318{margin-bottom: 0px !important;}&#8221;]\n<h2>Specific therapies based on genetic profiles<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1588235214433{margin-bottom: 0px !important;}&#8221;]Through our research on early-onset osteoporosis and our active participation in the multidisciplinary National Bone Board, we aim at advancing the use of molecular profiling to guide patient stratification and personalized treatment strategies. Unlike most treatments using conventional therapeutic agents, gene therapy has the potential of a truly causative treatment of genetic disorders that, ideally, restores normal function by correcting an individual disease-causing mutation.<\/p>\n<p>The Kornak Research Group investigates somatic gene therapies for severe monogenic skeletal disorders. A CRISPR-mediated therapy for autosomal recessive osteopetrosis currently serves as a proof-of-concept. As a human test system, we use induced pluripotent stem cells (iPSCs), which can be differentiated into the various cell types relevant for the skeleton. In collaboration with the BIH Center for Regenerative Therapies (BCRT), we are working on an approach to combine these cell types in a 3D system and to generate a &#8220;bone-on-a-chip&#8221; that can then be used for biomechanical as well as therapeutic investigations.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;progerien&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; align=&#8221;right&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1750943063256{margin-bottom: 0px !important;}&#8221;]\n<h2>Mechanisms &amp; treatment of congenital disorders of glycosylation<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1750943115809{margin-bottom: 0px !important;}&#8221;]Congenital Disorders of Glycosylation (CDG) are a group of rare, genetic, metabolic disorders. Glycosylation involves attaching sugar structures to proteins and lipids \u2013 a process crucial for numerous biological and physiological processes. Defects in glycosylation lead to severe illnesses for which there are currently few treatment options.<\/p>\n<p>In our collaborative DFG-funded project \u201cTreatProCDG\u201d together with the University of Lille, we are investigating the mechanisms of disrupted manganese homeostasis and autophagy in cell culture and mouse models. This disruption is a consequence of defects in proton transport within the Golgi compartment. The insights gained from this research are intended to inform the treatment of CDG with impaired proton transport, potentially through dietary supplementation and other approaches.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][\/mk_page_section][mk_page_section][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1750943134059{margin-bottom: 0px !important;}&#8221;]\n<h2>Safety of genome editing as therapy for autosomal dominant osteopetrosis<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1750943148322{margin-bottom: 0px !important;}&#8221;]Autosomal dominant osteopetrosis (ADO) is a hereditary skeletal disorder caused by CLCN7 gene mutations, leading to fractures and bone pain due to impaired osteoclast activity. We aim to develop a gene editing strategy to treat ADO and our project will evaluate the safety of this approach. The primary risk is off-target editing, which could potentially cause cancer. We will monitor off-target effects with the DISCOVER-seq strategy and will identify off-target editing locations and frequencies using next-generation sequencing and bioinformatics. These sites will then be validated in a subsequent approach. The results are an important step towards a clinical application of this ADO gene therapy.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;publications&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_empty_space height=&#8221;100&#8243;][vc_column_text css=&#8221;.vc_custom_1588235257537{margin-bottom: 0px !important;}&#8221;]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Publications Kornak Research Group<\/span><\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;32&#8243;][\/vc_column][\/mk_page_section][vc_row fullwidth=&#8221;true&#8221; fullwidth_content=&#8221;false&#8221; css=&#8221;.vc_custom_1473753600174{border-top-width: 0px !important;border-right-width: 0px !important;border-bottom-width: 0px !important;background-color: #ff9900 !important;border-right-color: #ffffff !important;border-right-style: solid !important;border-top-color: #ffffff !important;border-top-style: solid !important;border-bottom-color: #ffffff !important;border-bottom-style: solid !important;}&#8221; el_class=&#8221;ankernavigation-dark&#8221;][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-first&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"#2025\">2025<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"#2024\">2024<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"#2023\">2023<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-last&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"#2022\">2022<\/a>[\/mk_fancy_title][\/vc_column][\/vc_row][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;anker-1&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;20&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][vc_row fullwidth=&#8221;true&#8221; fullwidth_content=&#8221;false&#8221; css=&#8221;.vc_custom_1473753612485{border-top-width: 0px !important;border-right-width: 0px !important;border-bottom-width: 0px !important;background-color: #ff9900 !important;border-right-color: #ffffff !important;border-right-style: solid !important;border-top-color: #ffffff !important;border-top-style: solid !important;border-bottom-color: #ffffff !important;border-bottom-style: solid !important;}&#8221; el_class=&#8221;ankernavigation-dark&#8221;][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-first&#8221;][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"#2021\">2021<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221;]<a href=\"#2020\">2020 and before<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-last&#8221;][\/vc_column][\/vc_row][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2025&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1739369219060{margin-bottom: 0px !important;}&#8221;]\n<h2>2025<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1769431188959{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/41536451\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Autosomal Dominant Osteopetrosis &#8211; Identification of a New Mutation<\/b><\/a><br \/>\nMonteiro I, Moutinho-Pereira S, Kornak U, Carneiro L<br \/>\n<em>Eur J Case Rep Intern Med.<\/em> 2025 Dec 23;12(12):006042. doi: 10.12890\/2025_006042.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/41364339\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta<\/b><\/a><br \/>\nBartosik M, Prengel M, Delsmann J, Oswald J, Kornak U, Barvencik F, Schinke T, Amling M, Oheim R<br \/>\n<em>Osteoporos Int.<\/em> 2025 Dec 9. doi: 10.1007\/s00198-025-07774-w. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/41176198\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?<\/b><\/a><br \/>\nMunteanu M, Rutsch F, Nitschke Y, Kornak U, Kiewert C, Spiekermann J, H\u00f6ppner J, Grasemann C<br \/>\n<em>Bone.<\/em> 2025 Oct 30;202:117698. doi: 10.1016\/j.bone.2025.117698. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40836090\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia<\/b><\/a><br \/>\nJacobs J, Lyubenova H, Potelle S, Kopp J, Gerin I, Chan WL, Rodriguez de Los Santos M, H\u00fclsemann W, Mensah MA, Cormier-Daire V, Joosten M, Bruggenwirth HT, Stuurman KE, Miranda V, Campeau PM, Wittler L, Graff J, Mundlos S, Ibrahim DM, Van Schaftingen E, Fischer-Zirnsak B, Kornak U, Ehmke N, Bommer GT<br \/>\n<em>Nature<\/em>. 2025 Aug 20. doi: 10.1038\/s41586-025-09397-x. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40565606\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions<\/b><\/a><br \/>\nLiehr T, Singer S, Mau-Holzmann U, Kankel S, Padutsch N, Person L, Daumiller E, Kornak U<br \/>\n<em>Genes <\/em>(Basel). 2025 Jun 17;16(6):714. doi: 10.3390\/genes16060714.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40497796\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy<\/b><\/a><br \/>\nJacob M, K\u00f6lbel H, Harrer P, Kopajtich R, Munot P, Achleitner MT, Badmann S, Brugger M, Brunet T, Bonne G, Codina M, Ebner L, Eshraghi P, Eyring K, Farhat AS, Feichtinger RG, Graf E, Marc\u00e9-Grau A, Hahn A, Houlden H, Karimiani EG, Manel V, Mayerhanser K, Nectoux J, Nelson I, Phadke R, Prokisch H, Sadeghian S, Saparov A, Sch\u00e4nzer A, Schara-Schmidt U, Schmidt J, Schuler R, Sewry C, Shariati G, Slanz S, Smirnov D, Sukenik-Halevy R, Tajsharghi H, Toosi MB, Trujillano L, Weis J, Wilson LC, Ben Yaou R, Zamani M, Zech M, Zsch\u00fcntzsch J, Kornak U, Gom\u00e9z-Andr\u00e9s D, Maroofian R, Winkelmann J, Roos A, Distelmaier F, Mayr JA, Wagner M<br \/>\n<em>Brain<\/em>. 2025 Jun 11:awaf227. doi: 10.1093\/brain\/awaf227. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40144453\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Bone quality in pycnodysostosis: micropetrosis, locally distorted osteocyte lacuno-canalicular network, and heterogenous mineralization pattern in an adult female patient with multiple fractures<\/b><\/a><br \/>\nFratzl-Zelman N, Blouin S, Kornak U, Hartmann MA, Kurth AA, Zwerina J<br \/>\n<em>JBMR Plus.<\/em> 2025 Jan 23;9(4):ziaf015. doi: 10.1093\/jbmrpl\/ziaf015<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39906258\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelic TNFRSF11A loss-of-function variants escaping nonsense-mediated decay<\/b><\/a><br \/>\nGajewski D, Hennig AF, Gr\u00fcn R, Siggelkow H, Vishnolia S, Bastian L, Taipaleenm\u00e4ki H, Schulz A, Kornak U, Hesse E<br \/>\n<em>JBMR Plus.<\/em> 2025 Jan 8;9(3):ziae179. doi: 10.1093\/jbmrpl\/ziae179.[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2024&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1708938710771{margin-bottom: 0px !important;}&#8221;]\n<h2>2024<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1735828355435{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39680136\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia<\/b><\/a><br \/>\nKopp J, Jahn D, Vogt G, Psoma A, Ratto E, Morelle W, Stelzer N, Hausser I, Hoffmann A, de Los Santos MR, Koch LA, Fischer-Zirnsak B, Thiel C, Palm W, Meierhofer D, van den Bogaart G, Foulquier F, Meinhardt A, Kornak U<br \/>\n<em>Cell Mol Life Sci<\/em> 2024 Dec 16;82(1):4. doi: 10.1007\/s00018-024-05506-7.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39234801\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Targeting TGF-\u03b2 signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica<\/b><\/a><br \/>\nChan WL, Bucher CH, Goldes J, Ma AC, Steiner M, Willie BM, Mundlos S, Kornak U<br \/>\n<em>Aging Cell<\/em> 2024 Sep 5:e14322. doi: 10.1111\/acel.14322. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39039281\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings<\/b><\/a><br \/>\nSchmidt A, Danyel M, Grundmann K, \u2026, Kornak U, \u2026, Wagner M<br \/>\n<em>Nat Genet<\/em> 2024 Jul 22. doi: 10.1038\/s41588-024-01836-1. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38592547\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy<\/b><\/a><br \/>\nKopp J, Koch LA, Lyubenova H, K\u00fcchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B<br \/>\n<em>Hum Genet<\/em> 2024 Apr 9. doi: 10.1007\/s00439-024-02669-y. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38448978\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome<\/b><\/a><br \/>\nKoparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, \u00d6zbudak EM, Vona B, Haaf T, Liedtke D<br \/>\n<em>Hum Genomics<\/em> 2024 Mar 6;18(1):23. doi: 10.1186\/s40246-024-00593-w.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38378010\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias<\/b><br \/>\n<\/a>Kakar N, Rehman FU, Kaur R, Bhavani GS, Goyal M, Shah H, Kaur K, Sodhi KS, Kubisch C, Borck G, Panigrahi I, Girisha KM, Kornak U, Spielmann M<br \/>\n<em>Clin Genet<\/em> 2024 Feb 20. doi: 10.1111\/cge.14509. Epub ahead of print.[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2023&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1679915716979{margin-bottom: 0px !important;}&#8221;]\n<h2>2023<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1710171691253{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38448978\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome<\/b><\/a><br \/>\nKoparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, \u00d6zbudak EM, Vona B, Haaf T, Liedtke D<br \/>\n<em>Hum Genomics<\/em> 2024 Mar 6;18(1):23. doi: 10.1186\/s40246-024-00593-w.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37968388\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Single-cell, whole-embryo phenotyping of mammalian developmental disorders<\/b><br \/>\n<\/a>Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrab\u011b de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, H\u00e4gerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M<br \/>\n<em>Nature<\/em> 2023 Nov 15. doi: 10.1038\/s41586-023-06548-w. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37582359\" target=\"_blank\" rel=\"noopener noreferrer\"><b>AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia<\/b><br \/>\n<\/a>Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Gr\u00fcn R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U<br \/>\n<em>Am J Hum Genet<\/em> 2023 Aug 9:S0002-9297(23)00251-3. doi: 10.1016\/j.ajhg.2023.07.011. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36947595\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells<\/b><br \/>\n<\/a>Hochmann S, Ou K, Poupardin R, Mittermeir M, Textor M, Ali S, Wolf M, Ellinghaus A, Jacobi D, Elmiger JAJ, Donsante S, Riminucci M, Sch\u00e4fer R, Kornak U, Klein O, Schallmoser K, Schmidt-Bleek K, Duda GN, Polansky JK, Geissler S, Strunk D<br \/>\n<em>Sci Transl Med<\/em> 2023 Mar 22;15(688):eabm7477. doi: 10.1126\/scitranslmed.abm7477. Epub 2023 Mar 22.[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2022&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1647351333502{margin-bottom: 0px !important;}&#8221;]\n<h2>2022<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1677156994184{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36514868\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro<\/b><br \/>\n<\/a>Brauer E, Lange T, Keller D, G\u00f6rlitz S, Cho S, Keye J, Gossen M, Petersen A, Kornak U<br \/>\n<em>Aging Cell<\/em> 2022 Dec 13:e13744. doi: 10.1111\/acel.13744. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36513280\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis<\/b><br \/>\n<\/a>Stauber T, Wartosch L, Vishnolia S, Schulz A, Kornak U<br \/>\n<em>Bone.<\/em> 2022 Dec 10:116639. doi: 10.1016\/j.bone.2022.116639. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35962790\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis<\/b><br \/>\n<\/a>Boschann F, Cogulu M\u00d6, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, H\u00e4gerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J<br \/>\n<em>Genet Med.<\/em> 2022 Oct;24(10):2187-2193. doi: 10.1016\/j.gim.2022.07.012. Epub 2022 Aug 13.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35949115\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Early-onset osteoporosis: Rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen<\/b><br \/>\n<\/a>Costantini A, M\u00e4kitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, S\u00f8e K, M\u00e4kitie O<br \/>\n<em>J Bone Miner Res.<\/em> 2022 Sep;37(9):1623-1641. doi: 10.1002\/jbmr.4668. Epub 2022 Sep 11.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35751599\" target=\"_blank\" rel=\"noopener noreferrer\"><b>ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise<\/b><br \/>\n<\/a>May V, Koch L, Fischer-Zirnsak B, Horn D, Gehle P, Kornak U, Beule D, Holtgrewe M<br \/>\n<em>Bioinformatics<\/em>. 2022 Jun 25:btac418. doi: 10.1093\/bioinformatics\/btac418. Epub ahead of print<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35689455\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)<\/b><br \/>\n<\/a>St\u00fcrznickel J, Heider F, Delsmann A, G\u00f6del M, Gr\u00fcnhagen J, Huber TB, Kornak U, Amling M, Oheim R<br \/>\n<em>J Bone Miner Res.<\/em> 2022 Aug;37(8):1580-1591. doi: 10.1002\/jbmr.4630. Epub 2022 Jul 8.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35670808\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features<\/b><br \/>\n<\/a>Kornak U, Saha N, Keren B, Neumann A, Taylor Tavares AL, Piard J, Kopp J, Rodrigues Alves JG, Rodr\u00edguez de Los Santos M, El Choubassi N, Ehmke N, J\u00e4ger M, Spielmann M, Pantel JT, Lejeune E, Fauler B, Mielke T, Hecht J, Meierhofer D, Strom TM, Laugel V, Brice A, Mundlos S, Bertoli-Avella A, Bauer P, Heyd F, Boute O, Dupont J, Depienne C, Van Maldergem L, Fischer-Zirnsak B<br \/>\n<em>Genet Med.<\/em> 2022 Sep;24(9):1927-1940. doi: 10.1016\/j.gim.2022.05.004. Epub 2022 Jun 7.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35276006\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders<\/b><br \/>\n<\/a>Oheim R, Tsourdi E, Seefried L, Beller G, Schubach M, Vettorazzi E, St\u00fcrznickel J, Rolvien T, Ehmke N, Delsmann A, Genest F, Kr\u00fcger U, Zemojtel T, Barvencik F, Schinke T, Jakob F, Hofbauer LC, Mundlos S, Kornak U<br \/>\n<em>J Clin Endocrinol Metab<\/em> 2022 Mar 11:dgac147. doi: 10.1210\/clinem\/dgac147. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34379057\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive<\/b><br \/>\n<\/a>Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F<br \/>\n<em>J Med Genet<\/em> 2022 Jul;59(7):662-668. doi: 10.1136\/jmedgenet-2021-107843. Epub 2021 Jun 18.<br \/>\n[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2021&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1610964790917{margin-bottom: 0px !important;}&#8221;]\n<h2>2021<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1677156962717{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32956624\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients<\/b><br \/>\n<\/a>Amini L, Wagner DL, R\u00f6ssler U, Zarrinrad G, Wagner LF, Vollmer T, Wendering DJ, Kornak U, Volk HD, Reinke P, Schmueck-Henneresse M<br \/>\n<em>Mol Ther.<\/em> 2021 Jan 6;29(1):32-46. doi: 10.1016\/j.ymthe.2020.09.011.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34436670\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus<\/b><br \/>\n<\/a>Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Sch\u00f6pflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L.<br \/>\n<em>Hum Genet<\/em> 2021 Aug 26. doi: 10.1007\/s00439-021-02344-6. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34252603\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency<\/b><br \/>\n<\/a>H\u00f6ppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C<br \/>\n<em>Bone<\/em>. 2021 Jul 9;153:116111. doi: 10.1016\/j.bone.2021.116111. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33981699\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes<\/b><br \/>\n<\/a>Meyer F, Dittmann A, Kornak U, Herbster M, Pap T, Lohmann CH, Bertrand J<br \/>\n<em>Front Cell Dev Biol<\/em>. 2021 Apr 26;9:622287. doi: 10.3389\/fcell.2021.622287.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33905594\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis<\/b><br \/>\n<\/a>R\u00f6ssler U, Hennig AF, Stelzer N, Bose S, Kopp J, S\u00f8e K, Cyganek L, Zifarelli G, Ali S, von der Hagen M, Str\u00e4ssler E, Hahn G, Pusch M, Stauber T, Izsv\u00e1k Z, Gossen M, Stachelscheid H, Kornak U<br \/>\n<em>J Bone Miner Res<\/em>. 2021 Apr 27;. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33716164\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations<\/b><br \/>\n<\/a>Butscheidt S, Tsourdi E, Rolvien T, Delsmann A, St\u00fcrznickel J, Barvencik F, Jakob F, Hofbauer LC, Mundlos S, Kornak U, Seefried L, Oheim R.<br \/>\n<em>Bone<\/em>. 2021 Mar 12;147:115911. doi: 10.1016\/j.bone.2021.115911. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33118644\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)<\/b><br \/>\n<\/a>St\u00fcrznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R<br \/>\n<em>J Bone Miner Res.<\/em> 2021 Feb;36(2):271-282. doi: 10.1002\/jbmr.4197. Epub 2020 Nov 12.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33596325\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX<\/b><br \/>\n<\/a>St\u00fcrznickel J, J\u00e4hn-Rickert K, Zustin J, Hennig F, Delsmann MM, Schoner K, Rehder H, Kreczy A, Schinke T, Amling M, Kornak U, Oheim R.<br \/>\n<em>J Bone Miner Res<\/em> 2021 Feb 17. doi: 10.1002\/jbmr.4277. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301755\" target=\"_blank\" rel=\"noopener noreferrer\"><b>ATP6V0A2-Related Cutis Laxa<\/b><br \/>\n<\/a>Van Maldergem L, Dobyns W, Kornak U.<br \/>\n2009 Mar 19 [updated 2021 Jan 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132021.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33402532\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions<\/b><br \/>\n<\/a>Rodr\u00edguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, Robinson PN, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, Krawitz PM.<br \/>\n<em>Proc Natl Acad Sci U S A.<\/em> 2021 Jan 12;118(2):e2014481118. doi: 10.1073\/pnas.2014481118.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33180365\" target=\"_blank\" rel=\"noopener noreferrer\"><b>TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms<\/b><br \/>\n<\/a>Schmiester M, Dolnik A, Kornak U, Pfitzner B, Hummel M, Treue D, Hartmann A, Agaimy A, Weyerer V, Lekaj A, Brakemeier S, Peters R, \u00d6llinger R, M\u00e4rdian S, Bullinger L, Striefler JK, Fl\u00f6rcken A<br \/>\n<em>J Pathol Clin Res. <\/em>2021 Jan;7(1):3-9. doi: 10.1002\/cjp2.187. Epub 2020 Nov 12.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32860237\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Premature ageing disorders &#8211; a clinical and genetic compendium<\/b><br \/>\n<\/a>Schnabel F, Kornak U, Wollnik B.<br \/>\n<em>Clin Genet.<\/em> 2021 Jan;99(1):3-28. doi: 10.1111\/cge.13837. Epub 2020 Sep 29.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33320377\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa<\/b><br \/>\n<\/a>Vogt G, El Choubassi N, Herczegfalvi \u00c1, K\u00f6lbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, H\u00fcbner C, Mundlos S, Roos A, Lochm\u00fcller H, Karcagi V, Kornak U, Fischer-Zirnsak B<br \/>\n<em>J Inherit Metab Dis.<\/em> 2021 Jul;44(4):972-986. doi: 10.1002\/jimd.12341. Epub 2021 Feb 4.[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2020&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1739369391814{margin-bottom: 0px !important;}&#8221;]\n<h2>2020 and before<\/h2>\n[\/vc_column_text][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1739369381920{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32748437\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders<\/b><\/a><br \/>\nCinnirella G, Taylor RL, Coco C, Piludu F, Vidiri A, Sinibaldi L, Kornak U, Black G, Brancati F.<br \/>\n<em>Clin Genet<\/em>. 2020 Aug 3;. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32671420\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome<\/b><\/a><br \/>\nRolvien T, Kornak U, Linke SJ, Amling M, Oheim R.<br \/>\n<em>Calcif Tissue Int<\/em>. 2020 Jul 15;. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32592542\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals<\/b><\/a><br \/>\nSuter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parr\u00f3n-Pajares M, Mensah MA, H\u00fclsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N<br \/>\n<em>Am J Med Genet A. <\/em>2020 Jun 27;. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32455153\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene<\/b><\/a><br \/>\nRolvien T, Avci O, von Kroge S, Koehne T, Selbert S, Sonntag S, Shmerling D, Kornak U, Oheim R, Amling M, Schinke T, Yorgan TA.<br \/>\n<em>Bone Rep.<\/em> 2020 May 14;12:100281. doi: 10.1016\/j.bonr.2020.100281. eCollection 2020 Jun.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32338743\" target=\"_blank\" rel=\"noopener noreferrer\"><b>VarFish: comprehensive DNA variant analysis for diagnostics and research<\/b><\/a><br \/>\nHoltgrewe M, Stolpe O, Nieminen M, Mundlos S, Knaus A, Kornak U, Seelow D, Segebrecht L, Spielmann M, Fischer-Zirnsak B, Boschann F, Scholl U, Ehmke N, Beule D.<br \/>\n<em>Nucleic Acids Res.<\/em> 2020 Apr 27. pii: gkaa241. doi: 10.1093\/nar\/gkaa241. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31678489\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mice lacking plastin-3 display a specific defect of cortical bone acquisition<\/b><\/a><br \/>\nYorgan TA, Sari H, Rolvien T, Windhorst S, Failla AV, Kornak U, Oheim R, Amling M, Schinke T.<br \/>\n<em>Bone <\/em>2020 130:115062.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31958497\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis<\/b><\/a><br \/>\nRolvien T, Yorgan TA, Kornak U, Hermans-Borgmeyer I, Mundlos S, Schmidt T, Niemeier A, Schinke T, Amling M, Oheim R.<br \/>\n<em>Osteoarthritis Cartilage<\/em> 2020 28(3):334-343.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31805212\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.<\/b><\/a><br \/>\nOheim R, Zimmerman K, Maulding ND, St\u00fcrznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT.<br \/>\n<em>J Bone Miner Res<\/em> 2020 35, 528-539.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32119750\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation<\/b><\/a><br \/>\nHowaldt A, Hennig AF, Rolvien T, R\u00f6ssler U, Stelzer N, Knaus A, B\u00f6ttger S, Zustin J, Gei\u00dfler S, Oheim R, Amling M, Howaldt HP, Kornak U.<br \/>\n<em>J Bone Miner Res. <\/em>2020 Mar 2. doi: 10.1002\/jbmr.3995.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31923704\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism<\/b><\/a><br \/>\nEhmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR.<br \/>\n<em>Bone <\/em>2020;133:115219.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30631079\" target=\"_blank\" rel=\"noopener noreferrer\"><b>GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation. <\/b><\/a><br \/>\nWitkos TM, Chan WL, Joensuu M, Rhiel M, Pallister E, Thomas-Oates J, Mould AP, Mironov AA, Biot C, Guerardel Y, Morelle W, Ungar D, Wieland FT, Jokitalo E, Tassabehji M, Kornak U, Lowe M.<br \/>\n<em>Nat Commun. <\/em>2019 Jan 10;10(1):127. doi: 10.1038\/s41467-018-08044-6.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30151622\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee<\/b><\/a><br \/>\nRolvien T, Kornak U, Schinke T, Amling M, Oheim R.<br \/>\n<em>Osteoporos <\/em>Int. 2019 Mar;30(3):685-689. doi: 10.1007\/s00198-018-4667-6. Epub 2018 Aug 27.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31561010\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Response to &#8220;Letter to the editor&#8221;<\/b><\/a><br \/>\nKornak U.<br \/>\n<em>Bone <\/em>2019;128:115065.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31164752\" target=\"_blank\" rel=\"noopener noreferrer\"><b>PEDIA: prioritization of exome data by image analysis.<\/b><\/a><br \/>\nHsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, \u0110uki\u0107 D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, K\u00f6hler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, N\u00f6then M, Orrico A, Ott CE, Park K, Peterlin B, P\u00f6lsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wi\u015bniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.<br \/>\n<em>Genet Med.<\/em> 2019 Dec;21(12):2807-2814. doi: 10.1038\/s41436-019-0566-2. Epub 2019 Jun 5.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31285555\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome<\/b><\/a><br \/>\nHowaldt A, Nampoothiri S, Yesodharan D, Udayakumaran S, Subash P, Kornak U.<br \/>\n<em>J Hum Genet.<\/em> 2019 Sep;64(9):867-873. doi: 10.1038\/s10038-019-0638-9.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30537558\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1<\/b><\/a><br \/>\nHowaldt A, Nampoothiri S, Quell LM, Ozden A, Fischer-Zirnsak B, Collet C, de Vernejoul MC, Doneray H, Kayserili H, Kornak U.<br \/>\n<em>Bone<\/em>. 2019 Mar;120:495-503. doi: 10.1016\/j.bone.2018.12.002.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30763735\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis<\/b><\/a><br \/>\nHennig AF, R\u00f6ssler U, Boiti F, von der Hagen M, Gossen M, Kornak U, Stachelscheid H.<br \/>\n<em>Stem Cell Res.<\/em> 2019 Mar;35:101367. doi: 10.1016\/j.scr.2018.101367.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30642251\" target=\"_blank\" rel=\"noopener noreferrer\"><b>GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution<\/b><\/a><br \/>\nHansen P, Ali S, Blau H, Danis D, Hecht J, Kornak U, Lupi\u00e1\u00f1ez DG, Mundlos S, Steinhaus R, Robinson PN.<br \/>\n<em>BMC Genomics.<\/em> 2019 Jan 14;20(1):40. doi: 10.1186\/s12864-018-5376-4.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30371979\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI<\/b><\/a><br \/>\nFortugno P, Angelucci F, Cestra G, Camerota L, Ferraro AS, Cordisco S, Uccioli L, Castiglia D, De Angelis B, Kurth I, Kornak U, Brancati F.<br \/>\n<em>Hum Mutat.<\/em> 2019 Jan;40(1):106-114. doi: 10.1002\/humu.23678.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31353024\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders<\/b><\/a><br \/>\nFischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N.<br \/>\n<em>Am J Hum Genet. <\/em>2019 Sep 5;105(3):631-639. doi: 10.1016\/j.ajhg.2019.07.002.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31015584\" target=\"_blank\" rel=\"noopener noreferrer\"><b>SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy<\/b><\/a><br \/>\nFischer-Zirnsak B, Koenig R, Alisch F, G\u00fcne\u015f N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, T\u00fcys\u00fcz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U.<br \/>\n<em>J Hum Genet.<\/em> 2019 Jul;64(7):609-616. doi: 10.1038\/s10038-019-0602-8.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30201961\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Correction: Arterial tortuosity syndrome: 40 new families and literature review<\/b><\/a><br \/>\nBeyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Mui\u00f1o-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.<br \/>\n<em>Genet Med.<\/em> 2019 Aug;21(8):1894-1895. doi: 10.1038\/s41436-018-0035-3.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31805661\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences<\/b><\/a><br \/>\nAltinbas L, Bormann N, Lehmann D, Jeuthe S, Wulsten D, Kornak U, Robinson PN, Wildemann B, Kararigas G.<br \/>\n<em>Int J Mol Sci<\/em>. 2019 Dec 1;20(23). pii: E6059. doi: 10.3390\/ijms20236059.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29946973\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis<\/b><\/a><br \/>\nRolvien T, St\u00fcrznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R.<br \/>\n<em>Calcif Tissue Int. <\/em>2018 Nov;103(5):512-521. doi: 10.1007\/s00223-018-0447-8.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28916840\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern<\/b><\/a><br \/>\nRolvien T, Kornak U, St\u00fcrznickel J, Schinke T, Amling M, Mundlos S, Oheim R.<br \/>\n<em>Osteoporos <\/em>Int. 2018 Jan;29(1):243-246. doi: 10.1007\/s00198-017-4224-8. Epub 2017 Sep 15.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29691689\" target=\"_blank\" rel=\"noopener noreferrer\"><b>[Osteoimmunology-IMMUNOBONE : Regulation of bone by inflammation]<\/b><\/a><br \/>\nRauner M, Buttgereit F, Distler J, Garbe AI, Herrmann M, Hofbauer L, Hoffmann M, Jessberger R, Kornak U, Kr\u00f6nke G, Mundlos S, Spies C, Tuckermann J, Zwerina J.<br \/>\n<em>Z Rheumatol.<\/em> 2018 May;77(Suppl 1):12-15. doi: 10.1007\/s00393-018-0455-0. Review. German.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29661558\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome<\/b><\/a><br \/>\nRamaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV.<br \/>\n<em>Mol Genet Metab.<\/em> 2018 May;124(1):87-93. doi: 10.1016\/j.ymgme.2018.03.001.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29661558\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1<\/b><\/a><br \/>\nPiard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L.<br \/>\n<em>Am J Med Genet A.<\/em> 2018 Mar;176(3):668-675. doi: 10.1002\/ajmg.a.38604. Epub 2018 Jan 17. Review.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29079546\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Congenital disorders of glycosylation (CDG): Quo vadis?<\/b><\/a><br \/>\nP\u00e9anne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, P\u00e9rez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J.<br \/>\n<em>Eur J Med Genet.<\/em> 2018 Nov;61(11):643-663. doi: 10.1016\/j.ejmg.2017.10.012. Epub 2017 Oct 25. Review.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29499418\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta<\/b><\/a><br \/>\nMrosk J, Bhavani GS, Shah H, Hecht J, Kr\u00fcger U, Shukla A, Kornak U, Girisha KM.<br \/>\n<em>Bone<\/em>. 2018 May;110:368-377. doi: 10.1016\/j.bone.2018.02.029.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30404864\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand<\/b><\/a><br \/>\nLuther J, Yorgan TA, Rolvien T, Ulsamer L, Koehne T, Liao N, Keller D, Vollersen N, Teufel S, Neven M, Peters S, Schweizer M, Trumpp A, Rosigkeit S, Bockamp E, Mundlos S, Kornak U, Oheim R, Amling M, Schinke T, David JP<br \/>\n<em>Sci Transl Med.<\/em> 2018 Nov 7;10(466). pii: eaau7137. doi: 10.1126\/scitranslmed.aau7137.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29653293\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses<\/b><\/a><br \/>\nKhayal LA, Gr\u00fcnhagen J, Provazn\u00edk I, Mundlos S, Kornak U, Robinson PN, Ott CE.<br \/>\n<em>Bone<\/em>. 2018 Aug;113:29-40. doi: 10.1016\/j.bone.2018.04.006.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29879182\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation<\/b><\/a><br \/>\nGeissler S, Textor M, Stumpp S, Seitz S, Lekaj A, Brunk S, Klaassen S, Schinke T, Klein C, Mundlos S, Kornak U, K\u00fchnisch J.<br \/>\n<em>PLoS One.<\/em> 2018 Jun 7;13(6):e0198510. doi: 10.1371\/journal.pone.0198510. eCollection 2018.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29561836\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Impaired proteoglycan glycosylation, elevated TGF-beta signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica<\/b><\/a><br \/>\nChan WL, Steiner M, Witkos T, Egerer J, Busse B, Mizumoto S, Pestka JM, Zhang H, Hausser I, Khayal LA, Ott CE, Kolanczyk M, Willie B, Schinke T, Paganini C, Rossi A, Sugahara K, Amling M, Knaus P, Chan D, Lowe M, Mundlos S, Kornak U.<br \/>\n<em>PLoS Genet. <\/em>2018 Mar 21;14(3):e1007242. doi: 10.1371\/journal.pgen.1007242. eCollection 2018 Mar.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30194892\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome<\/b><\/a><br \/>\nCastori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F.<br \/>\n<em>Am J Med Genet A.<\/em> 2018 Sep;176(9):2028-2033. doi: 10.1002\/ajmg.a.40379. Epub 2018 Sep 8.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29018903\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)<\/b><\/a><br \/>\nButscheidt S, Rolvien T, Kornak U, Schmidt FN, Schinke T, Amling M, Oheim R.<br \/>\n<em>Calcif Tissue Int.<\/em> 2018 Jan;102(1):41-52. doi: 10.1007\/s00223-017-0332-x.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29594386\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2\/b&gt;<\/b><\/a><br \/>\nButscheidt S, Delsmann A, Rolvien T, Barvencik F, Al-Bughaili M, Mundlos S, Schinke T, Amling M, Kornak U, Oheim R.<br \/>\n<em>Osteoporos <\/em>Int. 2018 Jul;29(7):1643-1651. doi: 10.1007\/s00198-018-4499-4. Epub 2018 Mar 29.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29323665\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Arterial tortuosity syndrome: 40 new families and literature review<\/b><\/a><br \/>\nBeyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Di\u00e9z NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Mui\u00f1o-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.<br \/>\n<em>Genet Med.<\/em> 2018 Oct;20(10):1236-1245. doi: 10.1038\/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;:.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29108851\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab(Prx1) mice tibiae: A mouse model of premature aging<\/b><\/a><br \/>\nYang H, Albiol L, Chan WL, Wulsten D, Seliger A, Thelen M, Thiele T, Spevak L, Boskey A, Kornak U, Checa S, Willie BM.<br \/>\n<em>J Biomech.<\/em> 2017 Dec 8;65:145-153. doi: 10.1016\/j.jbiomech.2017.10.018.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28065471\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.<\/b><\/a><br \/>\nVan Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.<br \/>\n<em>Am J Hum Genet. <\/em>2017 Feb 2;100(2):216-227. doi: 10.1016\/j.ajhg.2016.12.010.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28422407\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus<\/b><\/a><br \/>\nSchoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N.<br \/>\n<em>Am J Med Genet A.<\/em> 2017 Jun;173(6):1694-1697. doi: 10.1002\/ajmg.a.38209.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27541832\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis<\/b><\/a><br \/>\nRolvien T, Koehne T, Kornak U, Lehmann W, Amling M, Schinke T, Oheim R.<br \/>\n<em>J Bone Miner Res. <\/em>2017 Feb;32(2):277-284. doi: 10.1002\/jbmr.2980.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28842678\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Sost deficiency led to a greater cortical bone formation response to mechanical loading and altered gene expression<\/b><\/a><br \/>\nPflanz D, Birkhold AI, Albiol L, Thiele T, Julien C, Seliger A, Thomson E, Kramer I, Kneissel M, Duda GN, Kornak U, Checa S, Willie BM.<br \/>\n<em>Sci Rep.<\/em> 2017 Aug 25;7(1):9435. doi: 10.1038\/s41598-017-09653-9.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28129027\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Disruption of the vacuolar-type H(+)-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes<\/b><\/a><br \/>\nKissing S, Rudnik S, Damme M, L\u00fcllmann-Rauch R, Ichihara A, Kornak U, Eskelinen EL, Jabs S, Heeren J, De Brabander JK, Haas A, Saftig P.<br \/>\n<em>Autophagy<\/em>. 2017 Apr 3;13(4):670-685. doi: 10.1080\/15548627.2017.1280216.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28742248\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities<\/b><\/a><br \/>\nHorn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U.<br \/>\n<em>Am J Med Genet A.<\/em> 2017 Sep;173(9):2534-2538. doi: 10.1002\/ajmg.a.38345.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29100093\" target=\"_blank\" rel=\"noopener noreferrer\"><b>De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction<\/b><\/a><br \/>\nEhmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altm\u00fcller J, Netzer C, Thiele H, N\u00fcrnberg P, Yigit G, J\u00e4ger M, Hecht J, Kr\u00fcger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.<br \/>\n<em>Am J Hum Genet.<\/em> 2017 Nov 2;101(5):833-843. doi: 10.1016\/j.ajhg.2017.09.016.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27604556\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa<\/b><\/a><br \/>\nAl-Bughaili M, Neuhann TM, Fl\u00f6ttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B.<br \/>\n<em>J Hum Genet. <\/em>2017 Feb;62(2):325-328. doi: 10.1038\/jhg.2016.111.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28559208\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms<\/b><\/a><br \/>\nAfzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Fl\u00f6ttmann R.<br \/>\n<em>Eur J Med Genet.<\/em> 2017 Aug;60(8):421-425. doi: 10.1016\/j.ejmg.2017.05.004.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27466194\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface<\/b><\/a><br \/>\nSeifert W, Posor Y, Schu P, Stenbeck G, Mundlos S, Klaassen S, N\u00fcrnberg P, Haucke V, Kornak U, K\u00fchnisch J.<br \/>\n<em>Hum Mol Genet.<\/em> 2016 Sep 1;25(17):3836-3848. doi: 10.1093\/hmg\/ddw230.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25850958\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients<\/b><\/a><br \/>\nRudnik-Sch\u00f6neborn S, T\u00f6lle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, M\u00fcller-Felber W, Schara U, von Au K, Wieczorek D, Bu\u00dfmann C, Zerres K.<br \/>\n<em>Clin Genet. <\/em>2016 Jan;89(1):34-43. doi: 10.1111\/cge.12594.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26799614\" target=\"_blank\" rel=\"noopener noreferrer\"><b>An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing<\/b><\/a><br \/>\nMackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D.<br \/>\n<em>Am J Med Genet A.<\/em> 2016 Apr;170A(4):1080-5. doi: 10.1002\/ajmg.a.37547.<\/p>\n<p><strong>Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.<\/strong><br \/>\nStephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, et al.<br \/>\n<em>Eur J Med Genet<\/em> 2015;58(1):21-7.<\/p>\n<p><strong>Key features and clinical variability of COG6-CDG. <\/strong><br \/>\nRymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokcay G, et al.<br \/>\n<em>Mol Genet Metab <\/em>2015;116(3):163-70.<\/p>\n<p><strong>Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel\/3C syndrome.<\/strong><br \/>\nKolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, et al.<br \/>\n<em>Eur J Hum Genet<\/em> 2015;23(5):720.<\/p>\n<p><strong>Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel\/3C syndrome.<\/strong><br \/>\nKolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, et al.<br \/>\n<em>Eur J Hum Genet<\/em> 2015;23(5):633-8.<\/p>\n<p><strong>The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. <\/strong><br \/>\nGoyal M, Singh A, Kornak U, Kapoor S.<br \/>\n<em>Indian J Dermatol <\/em>2015;60(5):521.<\/p>\n<p><strong>Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. <\/strong><br \/>\nFischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, et al.<br \/>\n<em>Am J Hum Genet <\/em>2015;97(3):483-92.<\/p>\n<p><strong>GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. <\/strong><br \/>\nEgerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, et al.<br \/>\n<em>J Invest Dermatol <\/em>2015;135(10):2368-2376.<\/p>\n<p><strong>Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. <\/strong><br \/>\nZemojtel T, Kohler S, Mackenroth L, Jager M, Hecht J, Krawitz P, et al.<br \/>\n<em>Sci Transl Med<\/em> 2014;6(252):252ra123.<\/p>\n<p><strong>Transport activity and presence of ClC-7\/Ostm1 complex account for different cellular functions. <\/strong><br \/>\nWeinert S, Jabs S, Hohensee S, Chan WL, Kornak U, Jentsch TJ.<br \/>\n<em>EMBO Rep <\/em>2014;15(7):784-91.<\/p>\n<p><strong>ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.<\/strong><br \/>\nSupanchart C, Wartosch L, Schlack C, Kuhnisch J, Felsenberg D, Fuhrmann JC, et al.<br \/>\n<em>Bone <\/em>2014;58:92-102.<\/p>\n<p><strong>Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.<\/strong><br \/>\nKuhnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, et al.<br \/>\n<em>PLoS One<\/em> 2014;9(1):e86115.<\/p>\n<p><strong>Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. <\/strong><br \/>\nKornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, et al.<br \/>\n<em>Brain <\/em>2014;137(Pt 3):683-92.<\/p>\n<p><strong>Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3&#8242; end of FBN1 gene. <\/strong><br \/>\nJacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, et al.<br \/>\n<em>Eur J Med Genet<\/em> 2014;57(5):230-4.<\/p>\n<p><strong>Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.<\/strong><br \/>\nGreally MT, Kalis NN, Agab W, Ardati K, Giurgea S, Kornak U, et al.<br \/>\n<em>Am J Med Genet A <\/em>2014;164A(5):1245-53.<\/p>\n<p><strong>Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.<\/strong><br \/>\nGardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, et al.<br \/>\n<em>Eur J Hum Genet<\/em> 2014;22(7):888-95.<\/p>\n<p><strong>Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. <\/strong><br \/>\nFischer B, Callewaert B, Schroter P, Coucke PJ, Schlack C, Ott CE, et al.<br \/>\n<em>Mol Genet Metab<\/em> 2014;112(4):310-6.<\/p>\n<p><strong>Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. <\/strong><br \/>\nEhmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, et al.<br \/>\n<em>Am J Hum Genet <\/em>2014;95(6):763-70.<\/p>\n<p><strong>CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals. <\/strong><br \/>\nBarvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, et al.<br \/>\n<em>J Bone Miner Res<\/em> 2014;29(4):982-91.<\/p>\n<p><strong>SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. <\/strong><br \/>\nPangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, et al.<br \/>\n<em>J Bone Miner Res<\/em> 2013;28(5):1041-9.<\/p>\n<p><strong>Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. <\/strong><br \/>\nOtt CE, Fischer B, Schroter P, Richter R, Gupta N, Verma N, et al.<br \/>\n<em>Bone<\/em> 2013;55(2):292-7.<\/p>\n<p><strong>Mutations in WNT1 cause different forms of bone fragility.<\/strong><br \/>\nKeupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, et al.<br \/>\n<em>Am J Hum Genet <\/em>2013;92(4):565-74.<\/p>\n<p><strong>Inactivation of anoctamin-6\/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues. <\/strong><br \/>\nEhlen HW, Chinenkova M, Moser M, Munter HM, Krause Y, Gross S, et al.<br \/>\n<em>J Bone Miner Res<\/em> 2013;28(2):246-59.<\/p>\n<p><strong>Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. <\/strong><br \/>\nDimopoulou A, Fischer B, Gardeitchik T, Schroter P, Kayserili H, Schlack C, et al.<br \/>\n<em>Mol Genet Metab <\/em>2013;110(3):352-61.<\/p>\n<p><strong>Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. <\/strong><br \/>\nCallewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, et al.<br \/>\n<em>Hum Mutat<\/em> 2013;34(1):111-21.<\/p>\n<p><strong>De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. <\/strong><br \/>\nZampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, et al.<br \/>\n<em>Am J Med Genet A <\/em>2012;158A(4):927-31.<\/p>\n<p><strong>[Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome]. <\/strong><br \/>\nTantcheva-Poor I, Schuster A, Kornak U, Chelius K, Mauch C.<br \/>\n<em>Klin Padiatr <\/em>2012;224(5):322-3.<\/p>\n<p><strong>The antimicrobial peptide, LL-37, inhibits in vitro osteoclastogenesis.<\/strong><br \/>\nSupanchart C, Thawanaphong S, Makeudom A, Bolscher JG, Nazmi K, Kornak U, et al.<br \/>\n<em>J Dent Res <\/em>2012;91(11):1071-7.<\/p>\n<p><strong>RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. <\/strong><br \/>\nPangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, et al<br \/>\n<em>J Bone Miner Res <\/em>2012;27(2):342-51.<\/p>\n<p><strong>A rare cause of a relatively common neonatal emergency.<\/strong><br \/>\nGuran T, Karasu GT, Degirmenci S, Say A, Guran O, Paketci AT, et al.<br \/>\n<em>Pediatr Hematol Oncol <\/em>2012;29(4):365-7.<\/p>\n<p><strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.<\/strong><br \/>\nFischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, et al.<br \/>\n<em>Hum Genet <\/em>2012;131(11):1761-73.<\/p>\n<p><strong>Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS). <\/strong><br \/>\nSkidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, et al.<br \/>\n<em>Am J Med Genet A <\/em>2011;155A(8):1848-56.<\/p>\n<p><strong>Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. <\/strong><br \/>\nMorava E, Kuhnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, et al.<br \/>\n<em>J Clin Endocrinol Metab<\/em> 2011;96(1):E189-98.<\/p>\n<p><strong>Metabolic cutis laxa syndromes. <\/strong><br \/>\nMohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E.<br \/>\n<em>J Inherit Metab Dis <\/em>2011;34(4):907-16.<\/p>\n<p><strong>Animal models with pathological mineralization phenotypes. <\/strong><br \/>\nKornak U.<br \/>\n<em>Joint Bone Spine <\/em>2011;78(6):561-7.<\/p>\n<p><strong>NOA1 is an essential GTPase required for mitochondrial protein synthesis.<\/strong><br \/>\nKolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, et al.<br \/>\n<em>Mol Biol Cell<\/em> 2011;22(1):1-11.<\/p>\n<p><strong>Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. <\/strong><br \/>\nWeinert S, Jabs S, Supanchart C, Schweizer M, Gimber N, Richter M, et al.<br \/>\n<em>Science <\/em>2010;328(5984):1401-3.<\/p>\n<p><strong>Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. <\/strong><br \/>\nPhadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U.<br \/>\n<em>Indian J Med Res<\/em> 2010;131:508-14.<\/p>\n<p><strong>Severe developmental bone phenotype in ClC-7 deficient mice.<\/strong><br \/>\nNeutzsky-Wulff AV, Sims NA, Supanchart C, Kornak U, Felsenberg D, Poulton IJ, et al.<br \/>\n<em>Dev Biol<\/em> 2010;344(2):1001-10.<\/p>\n<p><strong>Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. <\/strong><br \/>\nKunte H, Trendelenburg G, Matzen J, Ventz M, Kornak U, Harms L.<br \/>\n<em>Neuro Endocrinol Lett <\/em>2010;31(3):301-3.<\/p>\n<p><strong>Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. <\/strong><br \/>\nKornak U, Brancati F, Le Merrer M, Lichtenbelt K, Hohne W, Tinschert S, et al.<br \/>\n<em>Am J Med Genet A <\/em>2010;152A(4):870-4.<\/p>\n<p><strong>Heritable sclerosing bone disorders: presentation and new molecular mechanisms. <\/strong><br \/>\nde Vernejoul MC, Kornak U.<br \/>\n<em>Ann N Y Acad Sci <\/em>2010;1192:269-77.<\/p>\n<p><strong>Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. <\/strong><br \/>\nBrancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, et al.<br \/>\n<em>Am J Hum Genet <\/em>2010;87(2):265-73.<\/p>\n<p><strong>The 2nd Berlin BedRest Study: protocol and implementation.<\/strong><br \/>\nBelavy DL, Bock O, Borst H, Armbrecht G, Gast U, Degner C, et al.<br \/>\n<em>J Musculoskelet Neuronal Interact<\/em> 2010;10(3):207-19.<\/p>\n<p><strong>MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. <\/strong><br \/>\nAlbrecht B, de Brouwer AP, Lefeber DJ, Cremer K, Hausser I, Rossen N, et al.<br \/>\n<em>Am J Med Genet A <\/em>2010;152A(11):2916-8.<\/p>\n<p><strong>Impaired gastric acidification negatively affects calcium homeostasis and bone mass.<\/strong><br \/>\nSchinke T, Schilling AF, Baranowsky A, Seitz S, Marshall RP, Linn T, et al.<br \/>\n<em>Nat Med <\/em>2009;15(6):674-81.<\/p>\n<p><strong>Mutations in PYCR1 cause cutis laxa with progeroid features. <\/strong><br \/>\nReversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al.<br \/>\n<em>Nat Genet<\/em> 2009;41(9):1016-21.<\/p>\n<p><strong>Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts.<\/strong><br \/>\nOtt CE, Bauer S, Manke T, Ahrens S, Rodelsperger C, Grunhagen J, et al.<br \/>\n<em>J Bone Miner Res<\/em> 2009;24(7):1247-62.<\/p>\n<p><strong>Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix? <\/strong><br \/>\nKornak U.<br \/>\n<em>Eur J Hum Genet <\/em>2009;17(9):1097-8.<\/p>\n<p><strong>Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. <\/strong><br \/>\nHucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, et al.<br \/>\n<em>Hum Mol Genet<\/em> 2009;18(12):2149-65.<\/p>\n<p><strong>Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.<\/strong><br \/>\nGuillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, et al.<br \/>\n<em>Biochim Biophys Acta <\/em>2009;1792(9):903-14.<\/p>\n<p><strong>Ion channels and transporters in osteoclasts. <\/strong><br \/>\nSupanchart C, Kornak U.<br \/>\n<em>Arch Biochem Biophys <\/em>2008;473(2):161-5.<\/p>\n<p><strong>Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. <\/strong><br \/>\nRajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, et al.<br \/>\n<em>Am J Med Genet A<\/em> 2008;146A(8):965-76.<\/p>\n<p><strong>Bone remodeling: facts and perspectives. <\/strong><br \/>\nMarie P, Kornak U, Teti A.<br \/>\n<em>Arch Biochem Biophys <\/em>2008;473(2):97.<\/p>\n<p><strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. <\/strong><br \/>\nKornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, et al.<br \/>\n<em>Nat Genet <\/em>2008;40(1):32-4.<\/p>\n<p><strong>Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. <\/strong><br \/>\nKolanczyk M, Kuhnisch J, Kossler N, Osswald M, Stumpp S, Thurisch B, et al.<br \/>\n<em>BMC Med <\/em>2008;6:21.<\/p>\n<p><strong>Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. <\/strong><br \/>\nHennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, et al.<br \/>\n<em>Nat Genet<\/em> 2008;40(12):1410-2.<\/p>\n<p><strong>Multiple roles for neurofibromin in skeletal development and growth. <\/strong><br \/>\nKolanczyk M, Kossler N, Kuhnisch J, Lavitas L, Stricker S, Wilkening U, et al.<br \/>\n<em>Hum Mol Genet<\/em> 2007;16(8):874-86.<\/p>\n<p><strong>Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-\/-) mouse model. <\/strong><br \/>\nHecht J, Seitz V, Urban M, Wagner F, Robinson PN, Stiege A, et al.<br \/>\n<em>Gene Expr Patterns<\/em> 2007;7(1-2):102-12.<\/p>\n<p><strong>Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. <\/strong><br \/>\nPoet M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, et al.<br \/>\n<em>Proc Natl Acad Sci U S A <\/em>2006;103(37):13854-9.<\/p>\n<p><strong>Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. <\/strong><br \/>\nKornak U, Ostertag A, Branger S, Benichou O, de Vernejoul MC.<br \/>\n<em>J Clin Endocrinol Metab<\/em> 2006;91(3):995-1000.<\/p>\n<p><strong>Tracheal atresia as part of an exceptional combination of malformations.<\/strong><br \/>\nBercker S, Kornak U, Buhrer C, Henrich W, Kerner T.<br \/>\n<em>Int J Pediatr Otorhinolaryngol<\/em> 2006;70(6):1137-9.<\/p>\n<p><strong>Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.<\/strong><br \/>\nSmith AN, Jouret F, Bord S, Borthwick KJ, Al-Lamki RS, Wagner CA, et al.<br \/>\n<em>J Am Soc Nephrol<\/em> 2005;16(5):1245-56.<\/p>\n<p><strong>Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. <\/strong><br \/>\nKasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, et al.<br \/>\n<em>EMBO J<\/em> 2005;24(5):1079-91.<\/p>\n<p><strong>Cannabinoid receptor type 2 gene is associated with human osteoporosis. <\/strong><br \/>\nKarsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, et al.<br \/>\n<em>Hum Mol Genet<\/em> 2005;14(22):3389-96.<\/p>\n<p><strong>Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. <\/strong><br \/>\nRamirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stockle C, et al.<br \/>\n<em>Hum Mutat<\/em> 2004;23(5):471-6.<\/p>\n<p><strong>A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. <\/strong><br \/>\nAlbrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, et al.<br \/>\n<em>Hum Mol Genet <\/em>2004;13(20):2351-9.<\/p>\n<p><strong>Genetic disorders of the skeleton: a developmental approach. <\/strong><br \/>\nKornak U, Mundlos S.<br \/>\n<em>Am J Hum Genet <\/em>2003;73(3):447-74.<\/p>\n<p><strong>A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.<\/strong><br \/>\nBorthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, et al.<br \/>\n<em>J Med Genet<\/em> 2003;40(2):115-21.<\/p>\n<p><strong>Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.<\/strong><br \/>\nKornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, et al.<br \/>\n<em>Cell<\/em> 2001;104(2):205-15.<\/p>\n<p><strong>Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. <\/strong><br \/>\nKornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, et al.<br \/>\n<em>Hum Mol Genet<\/em> 2000;9(13):2059-63.<\/p>\n<p><strong>Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1).<\/strong><br \/>\nKornak U, Bosl MR, Kubisch C.<br \/>\n<em>Biochim Biophys Acta <\/em>1999;1447(1):100-6.<\/p>\n<p><strong>Porin proteins in mitochondria from rat pancreatic islet cells and white adipocytes: identification and regulation of hexokinase binding by the sulfonylurea glimepiride. <\/strong><br \/>\nMuller G, Korndorfer A, Kornak U, Malaisse WJ.<br \/>\n<em>Arch Biochem Biophys<\/em> 1994;308(1):8-23.<\/p>\n<p><strong>ATP6V0A2-Related Cutis Laxa.<\/strong><br \/>\nVan Maldergem L, Dobyns W, Kornak U.<br \/>\nIn: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA); 1993.<\/p>\n<p><strong>CLCN7-Related Osteopetrosis. <\/strong><br \/>\nSobacchi C, Villa A, Schulz A, Kornak U.<br \/>\nIn: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA); 1993[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section][vc_column][vc_empty_space height=&#8221;100&#8243;][\/vc_column][\/mk_page_section]\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row attached=&#8221;true&#8221; padding=&#8221;2&#8243;][vc_column][vc_empty_space height=&#8221;50&#8243;][vc_column_text align=&#8221;center&#8221; css=&#8221;.vc_custom_1588234495148{margin-bottom: 0px !important;}&#8221;] Kornak Research Group [\/vc_column_text][vc_empty_space height=&#8221;50px&#8221;][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text css=&#8221;.vc_custom_1750942835337{margin-bottom: 0px !important;}&#8221;] Gizem Chelik PhD student gizem.chelik@med.uni-goettingen.de Dario Gajewski PostDoc dario.gajewski@med.uni-goettingen.de [\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text css=&#8221;.vc_custom_1750942771393{margin-bottom: 0px !important;}&#8221;] Regina Gr\u00fcn PostDoc regina.gruen1@med.uni-goettingen.de Prof. Dr. rer. nat. Uwe Kornak Group leader uwe.kornak@med.uni-goettingen.de [\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space height=&#8221;80&#8243;][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1750942899305{margin-bottom: 0px !important;}&#8221;] In cooperation with Dr. rer. medic. [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":7663,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-11441","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Kornak Research Group - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"The Kornak Research Group investigates the genetic causes and molecular mechanims of rare skeletal and connective tissue disorders such as osterogenesis imperfecta and early-onset osteoporosis.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/research\/kornak-research-group\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Kornak Research Group - 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