Kornak Research Group

Angelika Biedermann

Dario Gajewski
PhD student

Regina Grün
PhD student

Dr. rer. nat. Floriane Hennig

Prof. Dr. rer. nat. Uwe Kornak
Group leader

In cooperation with Dr. rer. medic. Björn Fischer-Zirnsak, Dr. rer. nat. Daniel Ibrahim and Prof. Dr. med. Stefan Mundlos, Charité-Universitätsmedizin Berlin and Max Planck Institute for Molecular Genetics.

Dr. rer. nat. Wing Lee Chan

PhD students
Salaheddine Ali
Johannes Kopp
Uta Rössler
Guido Vogt


  • Genetic causes and molecular mechanisms of skeletal disorders
  • Progeroid connective tissue disorders and mechanisms of aging
  • Non-coding variations and enhancer architecture of the skeleton
  • Golgi compartment and intracellular transport
  • In vitro disease models derived from induced pluripotent stem cells (iPSC)
  • Gene therapies for rare bone disorders


Rare skeletal diseases hidden under common diagnoses

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.


From osteoporosis to mechanisms of aging

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.

Specific therapies based on genetic profiles

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.

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 “bone-on-a-chip” that can then be used for biomechanical as well as therapeutic investigations.


Publications Kornak Research Group


Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin 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.
Hum Genet 2021 Aug 26. doi: 10.1007/s00439-021-02344-6. Epub ahead of print.

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
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
J Med Genet 2021 Jun 18:jmedgenet-2021-107843. doi: 10.1136/jmedgenet-2021-107843. Epub ahead of print.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency
Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C
Bone. 2021 Jul 9;153:116111. doi: 10.1016/j.bone.2021.116111. Epub ahead of print.

Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes
Meyer F, Dittmann A, Kornak U, Herbster M, Pap T, Lohmann CH, Bertrand J
Front Cell Dev Biol. 2021 Apr 26;9:622287. doi: 10.3389/fcell.2021.622287.

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis
Rössler U, Hennig AF, Stelzer N, Bose S, Kopp J, Søe K, Cyganek L, Zifarelli G, Ali S, von der Hagen M, Strässler E, Hahn G, Pusch M, Stauber T, Izsvák Z, Gossen M, Stachelscheid H, Kornak U
J Bone Miner Res. 2021 Apr 27;. [Epub ahead of print]

Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations
Butscheidt S, Tsourdi E, Rolvien T, Delsmann A, Stürznickel J, Barvencik F, Jakob F, Hofbauer LC, Mundlos S, Kornak U, Seefried L, Oheim R.
Bone. 2021 Mar 12;147:115911. doi: 10.1016/j.bone.2021.115911. Epub ahead of print.

Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX
Stürznickel J, Jähn-Rickert K, Zustin J, Hennig F, Delsmann MM, Schoner K, Rehder H, Kreczy A, Schinke T, Amling M, Kornak U, Oheim R.
J Bone Miner Res 2021 Feb 17. doi: 10.1002/jbmr.4277. Epub ahead of print.

ATP6V0A2-Related Cutis Laxa
Van Maldergem L, Dobyns W, Kornak U.
2009 Mar 19 [updated 2021 Jan 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
Rodríguez 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.
Proc Natl Acad Sci U S A. 2021 Jan 12;118(2):e2014481118. doi: 10.1073/pnas.2014481118.


Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B.
J Inherit Metab Dis 2020 Dec 15. doi: 10.1002/jimd.12341. Epub ahead of print.

TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms
Schmiester M, Dolnik A, Kornak U, Pfitzner B, Hummel M, Treue D, Hartmann A, Agaimy A, Weyerer V, Lekaj A, Brakemeier S, Peters R, Öllinger R, Märdian S, Bullinger L, Striefler JK, Flörcken A.
J Pathol Clin Res. 2020 Nov 12. doi: 10.1002/cjp2.187. Epub ahead of print.

Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early-onset osteoporosis (EOOP)
Stürznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R.
J Bone Miner Res. 2020 Oct 29. doi: 10.1002/jbmr.4197. Epub ahead of print.

CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients
Amini L, Wagner DL, Rössler U, Zarrinrad G, Wagner LF, Vollmer T, Wendering DJ, Kornak U, Volk HD, Reinke P, Schmueck-Henneresse M.
Mol Ther. 2020 Sep 8:S1525-0016(20)30468-8. doi: 10.1016/j.ymthe.2020.09.011. Online ahead of print.

Premature ageing disorders – a clinical and genetic compendium
Schnabel F, Kornak U, Wollnik B.
Clin Genet. 2020 Aug 28. doi: 10.1111/cge.13837. Online ahead of print.

Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders
Cinnirella G, Taylor RL, Coco C, Piludu F, Vidiri A, Sinibaldi L, Kornak U, Black G, Brancati F.
Clin Genet. 2020 Aug 3;. [Epub ahead of print]

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
Rolvien T, Kornak U, Linke SJ, Amling M, Oheim R.
Calcif Tissue Int. 2020 Jul 15;. [Epub ahead of print]

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parrón-Pajares M, Mensah MA, Hülsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N
Am J Med Genet A. 2020 Jun 27;. [Epub ahead of print]

Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene
Rolvien T, Avci O, von Kroge S, Koehne T, Selbert S, Sonntag S, Shmerling D, Kornak U, Oheim R, Amling M, Schinke T, Yorgan TA.
Bone Rep. 2020 May 14;12:100281. doi: 10.1016/j.bonr.2020.100281. eCollection 2020 Jun.

VarFish: comprehensive DNA variant analysis for diagnostics and research
Holtgrewe 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.
Nucleic Acids Res. 2020 Apr 27. pii: gkaa241. doi: 10.1093/nar/gkaa241. [Epub ahead of print]

Mice lacking plastin-3 display a specific defect of cortical bone acquisition
Yorgan TA, Sari H, Rolvien T, Windhorst S, Failla AV, Kornak U, Oheim R, Amling M, Schinke T.
Bone 2020 130:115062.

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis
Rolvien T, Yorgan TA, Kornak U, Hermans-Borgmeyer I, Mundlos S, Schmidt T, Niemeier A, Schinke T, Amling M, Oheim R.
Osteoarthritis Cartilage 2020 28(3):334-343.

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R, Zimmerman K, Maulding ND, Stürznickel 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.
J Bone Miner Res 2020 35, 528-539.

Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation
Howaldt A, Hennig AF, Rolvien T, Rössler U, Stelzer N, Knaus A, Böttger S, Zustin J, Geißler S, Oheim R, Amling M, Howaldt HP, Kornak U.
J Bone Miner Res. 2020 Mar 2. doi: 10.1002/jbmr.3995.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
Ehmke 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.
Bone 2020;133:115219.


GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.
Witkos 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.
Nat Commun. 2019 Jan 10;10(1):127. doi: 10.1038/s41467-018-08044-6.

A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee
Rolvien T, Kornak U, Schinke T, Amling M, Oheim R.
Osteoporos Int. 2019 Mar;30(3):685-689. doi: 10.1007/s00198-018-4667-6. Epub 2018 Aug 27.

Response to “Letter to the editor”
Kornak U.
Bone 2019;128:115065.

PEDIA: prioritization of exome data by image analysis.
Hsieh 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, Đukić 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, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler 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, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.
Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5.

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome
Howaldt A, Nampoothiri S, Yesodharan D, Udayakumaran S, Subash P, Kornak U.
J Hum Genet. 2019 Sep;64(9):867-873. doi: 10.1038/s10038-019-0638-9.

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1
Howaldt A, Nampoothiri S, Quell LM, Ozden A, Fischer-Zirnsak B, Collet C, de Vernejoul MC, Doneray H, Kayserili H, Kornak U.
Bone. 2019 Mar;120:495-503. doi: 10.1016/j.bone.2018.12.002.

Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis
Hennig AF, Rössler U, Boiti F, von der Hagen M, Gossen M, Kornak U, Stachelscheid H.
Stem Cell Res. 2019 Mar;35:101367. doi: 10.1016/j.scr.2018.101367.

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution
Hansen P, Ali S, Blau H, Danis D, Hecht J, Kornak U, Lupiáñez DG, Mundlos S, Steinhaus R, Robinson PN.
BMC Genomics. 2019 Jan 14;20(1):40. doi: 10.1186/s12864-018-5376-4.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
Fortugno P, Angelucci F, Cestra G, Camerota L, Ferraro AS, Cordisco S, Uccioli L, Castiglia D, De Angelis B, Kurth I, Kornak U, Brancati F.
Hum Mutat. 2019 Jan;40(1):106-114. doi: 10.1002/humu.23678.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Fischer-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.
Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002.

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy
Fischer-Zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U.
J Hum Genet. 2019 Jul;64(7):609-616. doi: 10.1038/s10038-019-0602-8.

Correction: Arterial tortuosity syndrome: 40 new families and literature review
Beyens 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, Muiño-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.
Genet Med. 2019 Aug;21(8):1894-1895. doi: 10.1038/s41436-018-0035-3.

Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences
Altinbas L, Bormann N, Lehmann D, Jeuthe S, Wulsten D, Kornak U, Robinson PN, Wildemann B, Kararigas G.
Int J Mol Sci. 2019 Dec 1;20(23). pii: E6059. doi: 10.3390/ijms20236059.


Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis
Rolvien T, Stürznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R.
Calcif Tissue Int. 2018 Nov;103(5):512-521. doi: 10.1007/s00223-018-0447-8.

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern
Rolvien T, Kornak U, Stürznickel J, Schinke T, Amling M, Mundlos S, Oheim R.
Osteoporos Int. 2018 Jan;29(1):243-246. doi: 10.1007/s00198-017-4224-8. Epub 2017 Sep 15.

[Osteoimmunology-IMMUNOBONE : Regulation of bone by inflammation]
Rauner M, Buttgereit F, Distler J, Garbe AI, Herrmann M, Hofbauer L, Hoffmann M, Jessberger R, Kornak U, Krönke G, Mundlos S, Spies C, Tuckermann J, Zwerina J.
Z Rheumatol. 2018 May;77(Suppl 1):12-15. doi: 10.1007/s00393-018-0455-0. Review. German.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome
Ramaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV.
Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
Piard 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.
Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Review.

Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J.
Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Review.

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta
Mrosk J, Bhavani GS, Shah H, Hecht J, Krüger U, Shukla A, Kornak U, Girisha KM.
Bone. 2018 May;110:368-377. doi: 10.1016/j.bone.2018.02.029.

Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand
Luther 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
Sci Transl Med. 2018 Nov 7;10(466). pii: eaau7137. doi: 10.1126/scitranslmed.aau7137.

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses
Khayal LA, Grünhagen J, Provazník I, Mundlos S, Kornak U, Robinson PN, Ott CE.
Bone. 2018 Aug;113:29-40. doi: 10.1016/j.bone.2018.04.006.

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation
Geissler S, Textor M, Stumpp S, Seitz S, Lekaj A, Brunk S, Klaassen S, Schinke T, Klein C, Mundlos S, Kornak U, Kühnisch J.
PLoS One. 2018 Jun 7;13(6):e0198510. doi: 10.1371/journal.pone.0198510. eCollection 2018.

Impaired proteoglycan glycosylation, elevated TGF-beta signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica
Chan 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.
PLoS Genet. 2018 Mar 21;14(3):e1007242. doi: 10.1371/journal.pgen.1007242. eCollection 2018 Mar.

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome
Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F.
Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379. Epub 2018 Sep 8.

Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)
Butscheidt S, Rolvien T, Kornak U, Schmidt FN, Schinke T, Amling M, Oheim R.
Calcif Tissue Int. 2018 Jan;102(1):41-52. doi: 10.1007/s00223-017-0332-x.

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2/b>
Butscheidt S, Delsmann A, Rolvien T, Barvencik F, Al-Bughaili M, Mundlos S, Schinke T, Amling M, Kornak U, Oheim R.
Osteoporos Int. 2018 Jul;29(7):1643-1651. doi: 10.1007/s00198-018-4499-4. Epub 2018 Mar 29.

Arterial tortuosity syndrome: 40 new families and literature review
Beyens 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, Diéz 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, Muiño-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.
Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;:.


Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab(Prx1) mice tibiae: A mouse model of premature aging
Yang H, Albiol L, Chan WL, Wulsten D, Seliger A, Thelen M, Thiele T, Spevak L, Boskey A, Kornak U, Checa S, Willie BM.
J Biomech. 2017 Dec 8;65:145-153. doi: 10.1016/j.jbiomech.2017.10.018.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van 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.
Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010.

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus
Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N.
Am J Med Genet A. 2017 Jun;173(6):1694-1697. doi: 10.1002/ajmg.a.38209.

A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis
Rolvien T, Koehne T, Kornak U, Lehmann W, Amling M, Schinke T, Oheim R.
J Bone Miner Res. 2017 Feb;32(2):277-284. doi: 10.1002/jbmr.2980.

Sost deficiency led to a greater cortical bone formation response to mechanical loading and altered gene expression
Pflanz 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.
Sci Rep. 2017 Aug 25;7(1):9435. doi: 10.1038/s41598-017-09653-9.

Disruption of the vacuolar-type H(+)-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes
Kissing S, Rudnik S, Damme M, Lüllmann-Rauch R, Ichihara A, Kornak U, Eskelinen EL, Jabs S, Heeren J, De Brabander JK, Haas A, Saftig P.
Autophagy. 2017 Apr 3;13(4):670-685. doi: 10.1080/15548627.2017.1280216.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities
Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U.
Am J Med Genet A. 2017 Sep;173(9):2534-2538. doi: 10.1002/ajmg.a.38345.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Ehmke 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, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.
Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa
Al-Bughaili M, Neuhann TM, Flöttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B.
J Hum Genet. 2017 Feb;62(2):325-328. doi: 10.1038/jhg.2016.111.

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R.
Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004.

2016 and before

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface
Seifert W, Posor Y, Schu P, Stenbeck G, Mundlos S, Klaassen S, Nürnberg P, Haucke V, Kornak U, Kühnisch J.
Hum Mol Genet. 2016 Sep 1;25(17):3836-3848. doi: 10.1093/hmg/ddw230.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients
Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K.
Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594.

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
Mackenroth 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.
Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547.

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, et al.
Eur J Med Genet 2015;58(1):21-7.

Key features and clinical variability of COG6-CDG.
Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokcay G, et al.
Mol Genet Metab 2015;116(3):163-70.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, et al.
Eur J Hum Genet 2015;23(5):720.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, et al.
Eur J Hum Genet 2015;23(5):633-8.

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.
Goyal M, Singh A, Kornak U, Kapoor S.
Indian J Dermatol 2015;60(5):521.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, et al.
Am J Hum Genet 2015;97(3):483-92.

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, et al.
J Invest Dermatol 2015;135(10):2368-2376.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Zemojtel T, Kohler S, Mackenroth L, Jager M, Hecht J, Krawitz P, et al.
Sci Transl Med 2014;6(252):252ra123.

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.
Weinert S, Jabs S, Hohensee S, Chan WL, Kornak U, Jentsch TJ.
EMBO Rep 2014;15(7):784-91.

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.
Supanchart C, Wartosch L, Schlack C, Kuhnisch J, Felsenberg D, Fuhrmann JC, et al.
Bone 2014;58:92-102.

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.
Kuhnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, et al.
PLoS One 2014;9(1):e86115.

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, et al.
Brain 2014;137(Pt 3):683-92.

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene.
Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, et al.
Eur J Med Genet 2014;57(5):230-4.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
Greally MT, Kalis NN, Agab W, Ardati K, Giurgea S, Kornak U, et al.
Am J Med Genet A 2014;164A(5):1245-53.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, et al.
Eur J Hum Genet 2014;22(7):888-95.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Fischer B, Callewaert B, Schroter P, Coucke PJ, Schlack C, Ott CE, et al.
Mol Genet Metab 2014;112(4):310-6.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, et al.
Am J Hum Genet 2014;95(6):763-70.

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, et al.
J Bone Miner Res 2014;29(4):982-91.

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, et al.
J Bone Miner Res 2013;28(5):1041-9.

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
Ott CE, Fischer B, Schroter P, Richter R, Gupta N, Verma N, et al.
Bone 2013;55(2):292-7.

Mutations in WNT1 cause different forms of bone fragility.
Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, et al.
Am J Hum Genet 2013;92(4):565-74.

Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues.
Ehlen HW, Chinenkova M, Moser M, Munter HM, Krause Y, Gross S, et al.
J Bone Miner Res 2013;28(2):246-59.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schroter P, Kayserili H, Schlack C, et al.
Mol Genet Metab 2013;110(3):352-61.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, et al.
Hum Mutat 2013;34(1):111-21.

De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, et al.
Am J Med Genet A 2012;158A(4):927-31.

[Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome].
Tantcheva-Poor I, Schuster A, Kornak U, Chelius K, Mauch C.
Klin Padiatr 2012;224(5):322-3.

The antimicrobial peptide, LL-37, inhibits in vitro osteoclastogenesis.
Supanchart C, Thawanaphong S, Makeudom A, Bolscher JG, Nazmi K, Kornak U, et al.
J Dent Res 2012;91(11):1071-7.

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, et al
J Bone Miner Res 2012;27(2):342-51.

A rare cause of a relatively common neonatal emergency.
Guran T, Karasu GT, Degirmenci S, Say A, Guran O, Paketci AT, et al.
Pediatr Hematol Oncol 2012;29(4):365-7.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, et al.
Hum Genet 2012;131(11):1761-73.

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS).
Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, et al.
Am J Med Genet A 2011;155A(8):1848-56.

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Morava E, Kuhnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, et al.
J Clin Endocrinol Metab 2011;96(1):E189-98.

Metabolic cutis laxa syndromes.
Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E.
J Inherit Metab Dis 2011;34(4):907-16.

Animal models with pathological mineralization phenotypes.
Kornak U.
Joint Bone Spine 2011;78(6):561-7.

NOA1 is an essential GTPase required for mitochondrial protein synthesis.
Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, et al.
Mol Biol Cell 2011;22(1):1-11.

Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
Weinert S, Jabs S, Supanchart C, Schweizer M, Gimber N, Richter M, et al.
Science 2010;328(5984):1401-3.

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U.
Indian J Med Res 2010;131:508-14.

Severe developmental bone phenotype in ClC-7 deficient mice.
Neutzsky-Wulff AV, Sims NA, Supanchart C, Kornak U, Felsenberg D, Poulton IJ, et al.
Dev Biol 2010;344(2):1001-10.

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.
Kunte H, Trendelenburg G, Matzen J, Ventz M, Kornak U, Harms L.
Neuro Endocrinol Lett 2010;31(3):301-3.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Hohne W, Tinschert S, et al.
Am J Med Genet A 2010;152A(4):870-4.

Heritable sclerosing bone disorders: presentation and new molecular mechanisms.
de Vernejoul MC, Kornak U.
Ann N Y Acad Sci 2010;1192:269-77.

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, et al.
Am J Hum Genet 2010;87(2):265-73.

The 2nd Berlin BedRest Study: protocol and implementation.
Belavy DL, Bock O, Borst H, Armbrecht G, Gast U, Degner C, et al.
J Musculoskelet Neuronal Interact 2010;10(3):207-19.

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Albrecht B, de Brouwer AP, Lefeber DJ, Cremer K, Hausser I, Rossen N, et al.
Am J Med Genet A 2010;152A(11):2916-8.

Impaired gastric acidification negatively affects calcium homeostasis and bone mass.
Schinke T, Schilling AF, Baranowsky A, Seitz S, Marshall RP, Linn T, et al.
Nat Med 2009;15(6):674-81.

Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al.
Nat Genet 2009;41(9):1016-21.

Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts.
Ott CE, Bauer S, Manke T, Ahrens S, Rodelsperger C, Grunhagen J, et al.
J Bone Miner Res 2009;24(7):1247-62.

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?
Kornak U.
Eur J Hum Genet 2009;17(9):1097-8.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, et al.
Hum Mol Genet 2009;18(12):2149-65.

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, et al.
Biochim Biophys Acta 2009;1792(9):903-14.

Ion channels and transporters in osteoclasts.
Supanchart C, Kornak U.
Arch Biochem Biophys 2008;473(2):161-5.

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.
Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, et al.
Am J Med Genet A 2008;146A(8):965-76.

Bone remodeling: facts and perspectives.
Marie P, Kornak U, Teti A.
Arch Biochem Biophys 2008;473(2):97.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, et al.
Nat Genet 2008;40(1):32-4.

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.
Kolanczyk M, Kuhnisch J, Kossler N, Osswald M, Stumpp S, Thurisch B, et al.
BMC Med 2008;6:21.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, et al.
Nat Genet 2008;40(12):1410-2.

Multiple roles for neurofibromin in skeletal development and growth.
Kolanczyk M, Kossler N, Kuhnisch J, Lavitas L, Stricker S, Wilkening U, et al.
Hum Mol Genet 2007;16(8):874-86.

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model.
Hecht J, Seitz V, Urban M, Wagner F, Robinson PN, Stiege A, et al.
Gene Expr Patterns 2007;7(1-2):102-12.

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Poet M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, et al.
Proc Natl Acad Sci U S A 2006;103(37):13854-9.

Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.
Kornak U, Ostertag A, Branger S, Benichou O, de Vernejoul MC.
J Clin Endocrinol Metab 2006;91(3):995-1000.

Tracheal atresia as part of an exceptional combination of malformations.
Bercker S, Kornak U, Buhrer C, Henrich W, Kerner T.
Int J Pediatr Otorhinolaryngol 2006;70(6):1137-9.

Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.
Smith AN, Jouret F, Bord S, Borthwick KJ, Al-Lamki RS, Wagner CA, et al.
J Am Soc Nephrol 2005;16(5):1245-56.

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
Kasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, et al.
EMBO J 2005;24(5):1079-91.

Cannabinoid receptor type 2 gene is associated with human osteoporosis.
Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, et al.
Hum Mol Genet 2005;14(22):3389-96.

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.
Ramirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stockle C, et al.
Hum Mutat 2004;23(5):471-6.

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
Albrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, et al.
Hum Mol Genet 2004;13(20):2351-9.

Genetic disorders of the skeleton: a developmental approach.
Kornak U, Mundlos S.
Am J Hum Genet 2003;73(3):447-74.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, et al.
J Med Genet 2003;40(2):115-21.

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, et al.
Cell 2001;104(2):205-15.

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, et al.
Hum Mol Genet 2000;9(13):2059-63.

Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1).
Kornak U, Bosl MR, Kubisch C.
Biochim Biophys Acta 1999;1447(1):100-6.

Porin proteins in mitochondria from rat pancreatic islet cells and white adipocytes: identification and regulation of hexokinase binding by the sulfonylurea glimepiride.
Muller G, Korndorfer A, Kornak U, Malaisse WJ.
Arch Biochem Biophys 1994;308(1):8-23.

ATP6V0A2-Related Cutis Laxa.
Van Maldergem L, Dobyns W, Kornak U.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA); 1993.

CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, Kornak U.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA); 1993

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