Publications

2018

2017

2016

2015

2014

2013

2018

PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations
Blesinger H, Kaulfuß S, Aung T, Schwoch S, Prantl L, Rößler J, Wilting J, Becker J
PLOS One 2018, 13(7):e0200343, doi: 10.1371/journal.pone.0200343

Testosterone metabolites inhibit proliferation of castration- and therapy-resistant prostate cancer
Bremmer F, Jarry H, Unterkircher V, Kaulfuss S, Burfeind P, Radzun HJ, Ströbel P, Thelen P
Oncotarget 2018, 9(24):16951-16961, doi: 10.18632/oncotarget.24763

[Modern genetic counselling : Practical aspects exemplified by hypertrophic cardiomyopathy]
Czepluch F, Hasenfuß G, Wollnik B
Internist 2018, doi: 10.1007/s00108-018-0452-z. Review. German.

Genetic determinants of heart failure: facts and numbers
Czepluch FS, Wollnik B, Hasenfuß G
ESC Heart Fail 2018, 5(3):211-217, doi: 10.1002/ehf2.12267

Autosomal recessive primary microcephaly due to ASPM mutations: An update
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollni(c)k B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.
Hum Mutat 2018 Mar;39(3):319-332, doi: 10.1002/humu.23381.

An evolutionarily conserved ribosome-rescue pathway maintains epidermal homeostasis
Liakath-Ali K, Mills EW, Sequeira I, Lichtenberger BM, Pisco AO, Sipilä KH, Mishra A, Yoshikawa H, Wu CCC, Ly T, Lamond AI, Adham IM, Green R, Watt FM
Nature 2018, 556(7701):376-380, doi: 10.1038/s41586-018-0032-3

Relaxin family member insulin-like peptide 6 ameliorates cardiac fibrosis and prevents cardiac remodeling in murine heart failure models
Maruyama S, Wu CL, Yoshida S, Zhang D, Li PH, Wu F, Parker Duffen J, Yao R, Jardin B, Adham IM, Law R, Berger J, Di Marchi R, Walsh K
J Am Heart Assoc 2018, 7(12), pii: e008441, doi: 10.1161/JAHA.117.008441

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hövener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC
J Inherit Metab Dis 2018, 41(2):187-196, doi: 10.1007/s10545-018-0138-7

Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT, Deciphering Developmental Disorders Study, Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A
Am J Hum Genet 2018, 102(3):468-479, doi: 10.1016/j.ajhg.2018.01.014

Indian hedgehog suppresses a stromal cell-driven intestinal immune response
Westendorp BF, Büller NVJA, Karpus ON, van Dop WA, Koster J, Versteeg R, Koelink PJ, Snel CY, Meisner S, Roelofs JJTH, Uhmann A, Ver Loren van Themaat E, Heijmans J, Hahn H, Muncan V, Wildenberg ME, van den Brink GR
Cell Mol Gastroenterol Hepatol 2018, 5(1):67-82.e1, doi: 10.1016/j.jcmgh.2017.08.004

Ultra-structure of the sperm head-to-tail linkage complex in the absence of the spermatid-specific LINC component SPAG4
Yang K, Adham IM, Meinhardt A, Hoyer-Fender S
Histochem Cell Biol 2018, 150(1):49-59, doi: 10.1007/s00418-018-1668-7

2017

Ligand-dependent Hedgehog pathway activation in Rhabdomyosarcoma: the oncogenic role of the ligands
Almazán-Moga A, Zarzosa P, Molist C, Velasco P, Pyczek J, Simon-Keller K, Giralt I, Vidal I, Navarro N, Segura MF, Soriano A, Navarro S, Tirado OM, Ferreres JC, Santamaria A, Rota R, Hahn H, Sánchez de Toledo J, Roma J, Gallego S
Brit J Cancer 2017, 117(9):1314-1325. doi: 10.1038/bjc.2017.305

Catecholamine-dependent β-adrenergic signaling in a pluripotent stem cell model of Takotsubo cardiomyopathy
Borchert T, Hübscher D, Guessoum CI, Lam TDD, Ghadri JR, Schellinger IN, Tiburcy M, Liaw NY, Li Y, Haas J, Sossalla S, Huber MA, Cyganek L, Jacobshagen C, Dressel R, Raaz U, Nikolaev VO, Guan K, Thiele H, Meder B, Wollnik B, Zimmermann WH, Lüscher TF, Hasenfuss G, Templin C, Streckfuss-Bömeke K
J Am Coll Cardiol 2017, 70(8):975-991. doi: 10.1016/j.jacc.2017.06.061

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann AP, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D
Hum Genet 2017, 136(7):821-834. doi: 10.1007/s00439-017-1795-6.

Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors
Carreno G, Apps JR, Lodge EJ, Panousopoulos L, Haston S, Gonzalez-Meljem JM, Hahn H, Andoniadou CL, Martinez-Barbera JP
Development 2017, 144(18):3289-3302. doi: 10.1242/dev.153387

[Genetic diagnostics for cardiomyopathies]
Czepluch F, Wollnik B, Hasenfuß G
Dtsch Med Wochenschr 2017, 142(9):657-664. doi: 10.1055/s-0042-112183.

LEF1 reduces tumor progression and induces myodifferentiation in a subset of rhabdomyosarcoma
Dräger J, Simon-Keller K, Pukrop T, Klemm F, Wilting J, Sticht C, Dittmann K, Schulz M, Leuschner I, Marx A, Hahn H
Oncotarget 2017, 8(2): 3259-3273. doi: 10.18632/oncotarget.13887

De novo mutations in SLC25A24 cause a craniosynostosis cyndrome 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, 101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016

Prospects of estrogen receptor β activation in the treatment of castration-resistant prostate cancer
Gehrig J, Kaulfuß S, Jarry H, Bremmer F, Stettner M, Burfeind P, Thelen P
Oncotarget 2017, 8(21):34971-34979.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B
Nat Genet 2017, 49(2):249-255. doi: 10.1038/ng.3765.

Efficient killing of murine pluripotent stem cells by natural killer (NK) cells requires activation by cytokines and partly depends on the activating NK receptor NKG2D
Gröschel C, Hübscher D, Nolte J, Monecke S, Sasse A, Elsner L, Paulus W, Trenkwalder C, Polić B, Mansouri A, Guan K, Dressel R
Front Immunol 2017, 8:870. doi: 10.3389/fimmu.2017.00870

Novel compound heterozygous mutations in TELO2 in patient with severe expression of You-Hoover-Fong syndrome
Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B
Mol Genet Genomic Med 2017, 5(5):580-584. doi: 10.1002/mgg3.287

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit G, Wollnik B
Am J Med Genet A 2017, 173(1):264-267. doi: 10.1002/ajmg.a.37999

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I
Am J Med Genet Part A 2017, 173A:1102–110. doi: 10.1002/ajmg.a.38116

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum
Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I
Clin Genet 2017, Mar 30. doi: 10.1111/cge.12990. [Epub ahead of print]

Simultaneous inhibition of IGF1R and EGFR enhances the efficacy of standard treatment for colorectal cancer by the impairment of DNA repair and the induction of cell death
Oberthür R, Seemann H, Gehrig J, Rave-Fränk M, Bremmer F, Halpape R, Conradi LC, Scharf JG, Burfeind P, Kaulfuß S
Cancer Lett 2017, 407:93-105. doi: 10.1016/j.canlet.2017.08.009

Wiedemann-Rautenstrauch syndrome: A phenotype analysis
Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC
Am J Med Genet A 2017, Apr 26. doi: 10.1002/ajmg.a.38246. [Epub ahead of print]

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ
Hum Genet 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y.

CHARGEd with neural crest defects
Pauli S, Bajpai R, Borchers A
Am J Med Genet C 2017, 175(4):478-486. doi: 10.1002/ajmg.c.31584

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J
Hum Mol Genet 2017, May 4. doi: 10.1093/hmg/ddx175. [Epub ahead of print]

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS
Nat Genet 2017, 49(4):537-549. doi: 10.1038/ng.3790.

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset
Smogavec M, Zschüntzsch J, Kress W, Mohr J, Hellen P, Zoll B, Pauli S, Schmidt J
Neurol Genet 2017, 3(4): e167. doi: 10.1212/NXG.0000000000000167.

CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P
Am J Hum Genet 2017, 101(3): 391-403. doi: 10.1016/j.ajhg.2017.08.003

2016

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product
Altmüller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Nürnberg P
Biol Chem 2016, 397(8): 791-801, doi: 10.1515/hsz-2015-0300

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B
Am J Med Genet A 2016, 170(12): 3282-3288, doi: 10.1002/ajmg.a.37931

Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B
Hum Mutat 2016, 37(9): 847-64, doi: 10.1002/humu.23026

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M
Clin Genet 2016, doi: 10.1111/cge.12775 [Epub ahead of print]

Hedgehog controls quiescence and activation of neural stem cells in the adult ventricular-subventricular zone
Daynac M, Tirou L, Faure H, Mouthon MA, Gauthier LR, Hahn H, Boussin FD, Ruat M
Stem Cell Rep 2016, 7(4): 735-748, doi: 10.1016/j.stemcr.2016.08.016

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB
Am J Med Genet A 2016, doi: 10.1002/ajmg.a.37771 [Epub ahead of print]

Pelota Regulates Epidermal Differentiation by Modulating BMP and PI3K/AKT Signaling Pathways
Elkenani M, Nyamsuren G, Raju P, Liakath-Ali K, Hamdaoui A, Kata A, Dressel R, Klonisch T, Watt FM, Engel W, Thliveris JA, Pantakani DVK, Adham IM
J Invest Dermatol 2016, doi: 10.1016/j.jid.2016.04.020 [Epub ahead of print]

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP
Nat Genet 2016, 48(1): 36-43, doi: 10.1038/ng.3451

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit
Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M
ELIFE 2016, 5, doi: 10.7554/eLife.14277

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients
Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L
Hum Genet 2016, 135(7): 813-26, doi: 10.1007/s00439-016-1676-4

Polyhydramnios, transient antenatal Bartter’s syndrome, and MAGED2 mutations
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJM, Rinschen MM, de Backer O, Konrad M, Kömhoff M
New Engl J Med 2016, 374(19): 1853-63, doi: 10.1056/NEJMoa1507629

Arsenic trioxide induces Noxa-dependent apoptosis in rhabdomyosarcoma cells and synergizes with antimicrotubule drugs
Meister MT, Boedicker C, Graab U, Hugle M, Hahn H, Klingebiel T, Fulda S
Cancer Lett 2016, 381(2): 287-295, doi: 10.1016/j.canlet.2016.07.007

Altered FGF signalling in congenital craniofacial and skeletal disorders
Moosa S, Wollnik B
Semin Cell Dev Biol 2016, 53:115-25, doi:10.1016/j.semcdb.2015.12.005. Epub 2015 Dec 11. Review.

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Nishimura G, Wollnik B
Am J Med Genet A 2016, doi: 10.1002/ajmg.a.37823 [Epub ahead of print]

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, Wollnik B
Am J Med Genet A 2016, 170(5):1295-301. doi: 10.1002/ajmg.a.37570

Hedgehog signaling activation induces stem cell proliferation and hormone release in the adult pituitary gland
Pyczek J, Buslei R, Schult D, Hölsken A, Buchfelder M, Heß I, Hahn H, Uhmann A
Sci Rep 2016, 6: 24928, doi: 10.1038/srep24928.

Prognostic value of CXCL12 and CXCR4 in inoperable head and neck squamous cell carcinoma
Rave-Fränk M, Tehrany N, Kitz J, Leu M, Weber HE, Burfeind P, Schliephake H, Canis M, Beissbarth T, Reichardt HM, Wolff HA
Strahlenther Onkol 2016, 192(1): 47-54, doi: 10.1007/s00066-015-0892-5.

Molybdenum Cofactor and Sulfite Oxidase Deficiency
Reiss J
Metabolomics 2016, 6(2). doi: 10.4172/2153-0769.1000184

A thanatophoric dysplasia type I case with a FGFR3 p.R248C mutation and survival beyond the neonatal period
Sahin S, Ograg H, Atas Aslan E, Akcan AB, Kaynak Turkmen M, Moosa S and Elcioglu NH
Genetic Counseling 2016, 27(4):513-515.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C
J Med Genet 2016, 53(12): 820-827, doi: 10.1136/jmedgenet-2016-103880

2015

Role of N-cadherin in proliferation, migration, and invasion of germ cell tumours
Bremmer F, Schallenberg S, Jarry H, Küffer S, Kaulfuss S, Burfeind P, Strauß A, Thelen P, Radzun HJ, Ströbel P, Honecker F, Behnes CL
Oncotarget 2015, 6(32): 33426-37, doi: 10.18632/oncotarget.5288.

Leupaxin stimulates adhesion and migration of prostate cancer cells through modulation of the phosphorylation status of the actin-binding protein caldesmon
Dierks S, von Hardenberg S, Schmidt T, Bremmer F, Burfeind P, Kaulfuß S
Oncotarget 2015, 6(15): 13591-606, doi: 10.18632/oncotarget.3792.

Identification of a novel synthetic lethality of combined inhibition of hedgehog and PI3K signaling in rhabdomyosarcoma
Graab U, Hahn H, Fulda S
Oncotarget 2015, 6(11): 8722-35.

Leupaxin is expressed in mammary carcinoma and acts as a transcriptional activator of the estrogen receptor α
Kaulfuss S, Herr AM, Büchner A, Hemmerlein B, Günthert AR, Burfeind P
Int J Oncol 2015, 47(1): 106-14, doi: 10.3892/ijo.2015.2988.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M
Br J Cancer 2015, 112(8): 1392-7, doi: 10.1038/bjc.2015.75.

A functional and putative physiological role of calcitriol in Patched1/smoothened interaction
Linder B, Weber S, Dittmann K, Adamski J, Hahn H, Uhmann A
J Biol Chem 2015, 290(32): 19614-28, doi: 10.1074/jbc.M115.646141

Molecular diversity and associated phenotypic spectrum of germline CBL mutations
Martinelli S, Stellacci E, Pannone L, D’Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M
Hum Mutat 2015, 36(8): 787-96, doi: 10.1002/humu.22809

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta
Moosa S, Chung BHY, Tung JYL, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B
Clin Genet 2015, doi:10.1111/cge.12678: 1-3, doi: 10.1111/cge.12678 [Epub ahead of print]

Hedgehog/Patched-associated rhabdomyosarcoma formation from delta1-expressing mesodermal cells
Nitzki F, Cuvelier N, Dräger J, Schneider A, Braun T, Hahn H
Oncogene 2015, 35(22):2923-31, doi: 10.1038/onc.2015.346

Overexpression of mutant Ptch in rhabdomyosarcomas is associated with promoter hypomethylation and increased Gli1 and H3K4me3 occupancy
Nitzki F, Tolosa EJ, Cuvelier N, Frommhold A, Salinas-Riester G, Johnsen SA, Fernandez-Zapico ME, Hahn H
Oncotarget 2015, 6(11): 9113-24, doi: 10.18632/oncotarget.3272.

Das Noonan-Syndrom
Pauli S, Zoll B, Zenker M
Lymphologie in Forschung und Praxis 2015, 2(19): 92–98.

Pelota mediates gonocyte maturation and maintenance of spermatogonial stem cells in mouse testes
Raju P, Nyamsuren G, Elkenani M, Kata A, Tsagaan E, Engel W, Adham IM
Reproduction 2015, 149(3): 213-21, doi: 10.1530/REP-14-0391.

Hedgehog Inhibitors in rhabdomyosarcoma: a comparison of four compounds and responsiveness of four cell lines
Ridzewski R, Rettberg D, Dittmann K, Cuvelier N, Fulda S, Hahn H
Front Oncol 2015, 5: 130, doi: 10.3389/fonc.2015.00130.

Oncogenic RAS mutants confer resistance of RMS13 rhabdomyosarcoma cells to oxidative stress-induced ferroptotic cell death
Schott C, Graab U, Cuvelier N, Hahn H, Fulda S
Front Oncol 2015, 5: 131, doi: 10.3389/fonc.2015.00131.

High-grade acute organ toxicity and p16(INK4A) expression as positive prognostic factors in primary radio(chemo)therapy for patients with head and neck squamous cell carcinoma
Tehrany N, Kitz J, Rave-Fränk M, Lorenzen S, Li L, Küffer S, Hess CF, Burfeind P, Reichardt HM, Canis M, Beissbarth T, Wolff HA
Strahlenther Onkol 2015, 191(7): 566-72, doi: 10.1007/s00066-014-0801-3

Dppa3 expression is critical for generation of fully reprogrammed iPS cells and maintenance of Dlk1-Dio3 imprinting
Xu X, Smorag L, Nakamura T, Kimura T, Dressel R, Fitzner A, Tan X, Linke M, Zechner U, Engel W, Pantakani DVK
Nat Commun 2015, 6: 6008, doi: 10.1038/ncomms7008.

Molekulare Grundlagen der autosomal-rezessiven primären Mikrozephalie
Yigit G, Rosin N, Wollnik B
Medgen 2015, 27(4): 345-350, doi: 10.1007/s11825-015-0068-9

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, Wollnik B
Am J Med Genet A 2015, 170(3):728-33, doi: 10.1002/ajmg.a.37484.

2014

Interaction of hedgehog and vitamin D signaling pathways in basal cell carcinomas
Albert B, Hahn H
Adv Exp Med Biol 2014, 810: 329-41.

Inactivation of patched1 in murine chondrocytes causes spinal fusion without inflammation
Dittmann K, Wuelling M, Uhmann A, Dullin C, Hahn H, Schweyer S, Vortkamp A, Wienands J
Arthritis Rheumatol 2014, 66(4): 831-40, doi: 10.1002/art.38325.

Increased microtubule assembly rates influence chromosomal instability in colorectal cancer cells
Ertych N, Stolz A, Stenzinger A, Weichert W, Kaulfuß S, Burfeind P, Aigner A, Wordeman L, Bastians H
Nat Cell Biol 2014, 16(8): 779-91, doi: 10.1038/ncb2994.

Genetic activation of Hedgehog signaling unbalances the rate of neural stem cell renewal by increasing symmetric divisions
Ferent J, Cochard L, Faure H, Taddei M, Hahn H, Ruat M, Traiffort E
Stem Cell Reports 2014, 3(2): 312-23, doi: 10.1016/j.stemcr.2014.05.016.

Bcl-xL mediates therapeutic resistance of a mesenchymal breast cancer cell subpopulation
Keitel U, Scheel A, Thomale J, Halpape R, Kaulfuß S, Scheel C, Dobbelstein M
Oncotarget 2014, 5(23): 11778-91.

Depletion of cutaneous macrophages and dendritic cells promotes growth of basal cell carcinoma in mice
König S, Nitzki F, Uhmann A, Dittmann K, Theiss-Suennemann J, Herrmann M, Reichardt HM, Schwendener R, Pukrop T, Schulz-Schaeffer W, Hahn H
PLoS One 2014, 9(4): e93555, doi: 10.1371/journal.pone.0093555.

Plasma concentrations of afamin are associated with the prevalence and development of metabolic syndrome
Kronenberg F, Kollerits B, Kiechl S, Lamina C, Kedenko L, Meisinger C, Willeit J, Huth C, Wietzorrek G, Altmann ME, Thorand B, Melmer A, Dähnhardt D, Santer P, Rathmann W, Paulweber B, Koenig W, Peters A, Adham IM, Dieplinger H
Circ Cardiovasc Genet 2014, 7(6): 822-9, doi: 10.1161/CIRCGENETICS.113.000654.

Lrrc34, a novel nucleolar protein, interacts with npm1 and ncl and has an impact on pluripotent stem cells
Lührig S, Siamishi I, Tesmer-Wolf M, Zechner U, Engel W, Nolte J
Stem Cells Dev 2014, 23(23): 2862-74, doi: 10.1089/scd.2013.0470.

Amygdalin blocks bladder cancer cell growth in vitro by diminishing cyclin A and cdk2
Makarević J, Rutz J, Juengel E, Kaulfuss S, Reiter M, Tsaur I, Bartsch G, Haferkamp A, Blaheta RA
PLoS One 2014, 9(8): e105590, doi: 10.1371/journal.pone.0105590.

Amygdalin influences bladder cancer cell adhesion and invasion in vitro
Makarević J, Rutz J, Juengel E, Kaulfuss S, Tsaur I, Nelson K, Pfitzenmaier J, Haferkamp A, Blaheta RA
PLoS One 2014, 9(10): e110244, doi: 10.1371/journal.pone.0110244.

Uniparental trisomy of a mutated HRAS proto-oncogene in embryonal rhabdomyosarcoma of a patient with Costello syndrome
Menke J, Pauli S, Sigler M, Kühnle I, Shoukier M, Zoll B, Ganster C, Salinas-Riester G, Schaefer IM
J Clin Oncol 2014, 33(13): e62-e65, doi: 10.1200/JCO.2013.49.6539.

Respiratory distress and early neonatal lethality in Hspa4l/Hspa4 double-mutant mice
Mohamed BA, Barakat AZ, Held T, Elkenani M, Mühlfeld C, Männer J, Adham IM
Am J Resp Cell Mol 2014, 50(4): 817-24, doi: 10.1165/rcmb.2013-0132OC

Pelota regulates the development of extraembryonic endoderm through activation of bone morphogenetic protein (BMP) signaling
Nyamsuren G, Kata A, Xu X, Raju P, Dressel R, Engel W, Pantakani DVK, Adham IM
Stem Cell Res 2014, 13(1): 61-74, doi: 10.1016/j.scr.2014.04.011.

CHARGE and Kabuki syndromes: a phenotypic and molecular link
Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S
Hum Mol Genet 2014, 23(16): 4396-405, doi: 10.1093/hmg/ddu156.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EMHF, van Ravenswaaij-Arts CMA, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S
Hum Genet 2014, 133(8): 997-1009, doi: 10.1007/s00439-014-1444-2.

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis
Schwaibold EMC, Bartels I, Küster H, Lorenz M, Burfeind P, Adam R, Zoll B
Mol Cytogenet 2014, 7(1): 7, doi: 10.1186/1755-8166-7-7.

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Schwaibold EMC, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S
Mol Cytogenet 2014, 7(1): 74, doi: 10.1186/s13039-014-0074-7.

The roles of DAZL in RNA biology and development
Smorag L, Xu X, Engel W, Pantakani DVK
Wiley Interdiscip Rev RNA 2014, 5(4): 527-35, doi: 10.1002/wrna.1228.

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors
Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U
Mol Genet Genomic Med 2014, 2(2): 176-85, doi: 10.1002/mgg3.60.

DMBA/TPA treatment is necessary for BCC formation from patched deficient epidermal cells in Ptch(flox/flox)CD4Cre(+/-) mice
Uhmann A, Heß I, Frommhold A, König S, Zabel S, Nitzki F, Dittmann K, Lühder F, Christiansen H, Reifenberger J, Schulz-Schaeffer W, Hahn H
J Invest Dermatol 2014, 134(10): 2620-9, doi: 10.1038/jid.2014.157.

Haplo-deficiency of ODF1/HSPB10 in mouse sperm causes relaxation of head-to-tail linkage
Yang K, Grzmil P, Meinhardt A, Hoyer-Fender S
Reproduction 2014, 148(5): 499-506, doi: 10.1530/REP-14-0370.

The injury-induced myokine insulin-like 6 is protective in experimental autoimmune myositis
Zeng L, Maruyama S, Nakamura K, Parker-Duffen JL, Adham IM, Zhong X, Lee HK, Querfurth H, Walsh K
Skelet Muscle 2014, 4: 16, doi: 10.1186/2044-5040-4-16.

2013

Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p
Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M
Eur J Med Genet 2013, 56(8): 458-62, doi: 10.1016/j.ejmg.2013.06.002

Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases
Behnes CL, Schlegel C, Shoukier M, Magiera I, Henschke F, Schwarz A, Bremmer F, Loertzer H
BMC Urol 2013, 13: 3, doi: 10.1186/1471-2490-13-3.

Mena/VASP and αII-Spectrin complexes regulate cytoplasmic actin networks in cardiomyocytes and protect from conduction abnormalities and dilated cardiomyopathy
Benz PM, Merkel CJ, Offner K, Abeßer M, Ullrich M, Fischer T, Bayer B, Wagner H, Gambaryan S, Ursitti JA, Adham IM, Linke WA, Feller SM, Fleming I, Renné T, Frantz S, Unger A, Schuh K
Cell Commun Signal 2013, 11: 56, doi: 10.1186/1478-811X-11-56.

Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures
Bodda C, Tantra M, Mollajew R, Arunachalam JP, Laccone FA, Can K, Rosenberger A, Mironov SL, Ehrenreich H, Mannan AU
Am J Pathol 2013, 183(1): 195-210, doi: 10.1016/j.ajpath.2013.03.019

Mucocutaneous telangiectasia – it’s the tip of the iceberg
Böckle BC, Shoukier M, Kaulfuß S, Sepp NT
J Eur Acad Dermatol Venereol 2013, 7(3):393-4.

Impact of the antiproliferative agent ciclopirox olamine treatment on stem cells proteome
Dihazi GH, Bibi A, Jahn O, Nolte J, Mueller GA, Engel W, Dihazi
World J Stem Cells 2013, 5(1): 9-25, doi: 10.4252/wjsc.v5.i1.9.

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors
Gispert S, Parganlija D, Klinkenberg M, Dröse S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Büchel F, Adler T, Hrabé de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G
Hum Mol Genet 2013, 22(24): 4871-87, doi: 10.1093/hmg/ddt338.

Embryo implantation failure and other reproductive defects in Ube2q1-deficient female mice
Grzmil P, Altmann ME, Adham IM, Engel U, Jarry H, Schweyer S, Wolf S, Mänz J, Engel W
Reproduction 2013, 145(1): 45-56, doi: 10.1530/REP-12-0054.

Blockade of the PDGFR family together with SRC leads to diminished proliferation of colorectal cancer cells
Kaulfuß S, Seemann H, Kampe R, Meyer J, Dressel R, König B, Scharf JG, Burfeind P
Oncotarget 2013, 4(7): 1037-49.

Empty liposomes induce antitumoral effects associated with macrophage responses distinct from those of the TLR1/2 agonist Pam3CSK 4 (BLP)
König S, Regen T, Dittmann K, Engelke M, Wienands J, Schwendener R, Hanisch UK, Pukrop T, Hahn H
Cancer Immunol Immunother 2013, 62(10): 1587-97, doi: 10.1007/s00262-013-1444-4

The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis
Lührig S, Kolb S, Mellies N, Nolte J
Cell Div 2013, 8(1): 3, doi: 10.1186/1747-1028-8-3.

The hedgehog receptor patched1 in T cells is dispensable for adaptive immunity in mice
Michel KD, Uhmann A, Dressel R, van den Brandt J, Hahn H, Reichardt HM
PLoS One 2013, 8(4): e61034, doi: 10.1371/journal.pone.0061034.

Artificial Sperm
Nolte J, Engel W
J Reproduktionsmed u Endokrin Special Issue 2013, 1(10): 66–71.

[X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms]
Pehlke JR, Venkataramani V, Emmert S, Mohr A, Zoll B, Nau R
Fortschr Neurol Psyc 2013, 81(1): 40-3, doi: 10.1055/s-0032-1330280

Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1
Schaefer IM, Ströbel P, Thiha A, Sohns JM, Mühlfeld C, Küffer S, Felmerer G, Stepniewski A, Pauli S, Agaimy A
Int J Clin Exp Pathol 2013, 6(12): 3003-8.

Acute onset of adult Alexander disease
Schmidt H, Kretzschmar B, Lingor P, Pauli S, Schramm P, Otto M, Ohlenbusch A, Brockmann K
J Neurol Sci 2013, 331(1-2): 152-4, doi: 10.1016/j.jns.2013.05.006.

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8
Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K
Cytogenet Genome Res 2013, 142(1): 1-6, doi: 10.1159/000355436.

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review
Schwaibold EMC, Zoll B, Burfeind P, Hobbiebrunken E, Wilken B, Funke R, Shoukier M
Am J Med Genet A 2013, 161(10): 2634-40, doi: 10.1002/ajmg.a.36129. Review

Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function
Shoukier M, Fuchs S, Schwaibold E, Lingen M, Gärtner J, Brockmann K, Zirn B
Neuropediatrics 2013, 44(5): 268-71, doi: 10.1055/s-0033-1333874

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat E, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B
Clin Genet 2013, 83(1): 53-65, doi: 10.1111/j.1399-0004.2012.01850.x

Zfp819, a novel KRAB-zinc finger protein, interacts with KAP1 and functions in genomic integrity maintenance of mouse embryonic stem cells
Tan X, Xu X, Elkenani M, Smorag L, Zechner U, Nolte J, Engel W, Pantakani DVK
Stem Cell Res 2013, 11(3): 1045-59, doi: 10.1016/j.scr.2013.07.006.

INSL5 is a novel marker for human enteroendocrine cells of the large intestine and neuroendocrine tumours
Thanasupawat T, Hammje K, Adham I, Ghia JE, Del Bigio MR, Krcek J, Hoang-Vu C, Klonisch T, Hombach-Klonisch S
Oncol Rep 2013, 29(1): 149-54, doi: 10.3892/or.2012.2119

Hedgehog signalling stimulates precursor cell accumulation and impairs epithelial maturation in the murine oesophagus
van Dop WA, Rosekrans SL, Uhmann A, Jaks V, Offerhaus GJA, van den Bergh Weerman MA, Kasper M, Heijmans J, Hardwick JCH, Verspaget HW, Hommes DW, Toftgård R, Hahn H, van den Brink GR
Gut 2013, 62(3): 348-57, doi: 10.1136/gutjnl-2011-301141

Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene
Varges D, Schulz-Schaeffer WJ, Wemheuer WM, Damman I, Schmitz M, Cramm M, Kallenberg K, Shirneshan K, Elkenani M, Markwort S, Faist M, Kohlhase J, Windl O, Zerr I
J Neurol 2013, 260(7): 1871-9, doi: 10.1007/s00415-013-6897-z.

Valproic acid inhibits the proliferation of cancer cells by re-expressing cyclin D2
Witt D, Burfeind P, von Hardenberg S, Opitz L, Salinas-Riester G, Bremmer F, Schweyer S, Thelen P, Neesen J, Kaulfuss S
Carcinogenesis 2013, 34(5): 1115-24, doi: 10.1093/carcin/bgt019.

Mouse Dazl and its novel splice variant functions in translational repression of target mRNAs in embryonic stem cells
Xu X, Tan X, Lin Q, Schmidt B, Engel W, Pantakani DVK
Bichim Biophys Acta 2013, 1829(5): 425-35, doi: 10.1016/j.bbagrm.2012.12.010.

Generation and characterization of yeast two-hybrid cDNA libraries derived from two distinct mouse pluripotent cell types
Zheng Y, Tan X, Pyczek J, Nolte J, Pantakani DVK, Engel W
Mol Biotechnol 2013, 54(2): 228-37, doi: 10.1007/s12033-012-9561-4.

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