Wollnik, Bernd

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08.03.2022

Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients

Authors Haupt LP, Rebs S, Maurer W, Hübscher D, Tiburcy M, Pabel S, Maus A, Köhne S, Tappu R, Haas J, Li Y, Sasse A, Santos CCX, Dressel R, Wojnowski L, Bunt G, Möbius W, Shah AM, Meder B, Wollnik B, Sossalla S, Hasenfuss G, Streckfuss-Bömeke K Journal Basic Research
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26.02.2022

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome

Authors Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Feb 26. Abstract Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of
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31.01.2022

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures

Authors Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 Jan 31:ddab373. Abstract Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency, and
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11.10.2021

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Authors Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B Journal European Journal of Human Genetics Citation Eur J Hum Genet. 2021 Oct 11. Abstract Variants in transcription factor p63 have been linked to several autosomal dominantly
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20.09.2021

Biallelic variants in YRDC cause a developmental disorder with progeroid features

Authors Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B Journal
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13.08.2021

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease

Authors Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A Journal European Journal of Medical Genetics Citation Eur J Med Genet. 2021 Aug 13:104310. Abstract MFSD2A,
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09.07.2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Authors Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou
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25.06.2021

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Authors Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K Journal Journal of Medical Genetics Citation J Med Genet. 2021 Jun 25:jmedgenet-2021-107769. Abstract Background Developmental and epileptic encephalopathies (DEEs) represent a group of
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21.05.2021

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

Authors Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E,
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25.01.2021

Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes

Authors Peper J, Kownatzki-Danger D, Weninger G, Seibertz F, Pronto JR, Sutanto H, Pacheu Grau D, Hindmarsh R, Brandenburg S, Kohl T, Hasenfuβ G, Gotthardt M, Rog-Zielinska EA, Wollnik B, Rehling P, Urlaub H, Wegener JW, Heijman J, Voigt N, Cyganek L, Lenz C, Lehnart SE Journal Circulation Research Citation
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