Wollnik, Bernd

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15.01.2025

Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis

Authors Unal E, Tekmenuray-Unal A, Cayir A, Papatya Cakir ED, Beyazit N, Kolbasi B, Gurpinar Tosun B, Yigit G, Zibat A, Wollnik B, Demirbilek H, Guran T Journal The Journal of Clinical Endocrinology and Metabolism Citation J Clin Endocrinol Metab. 2025 Jan 15:dgaf020. Abstract Context: Duplications occurring upstream of the
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10.09.2024

KRASG12C-inhibitor-based combination therapies for pancreatic cancer: insights from drug screening

Authors Tapia Contreras C, Falke JD, Seifert DM, Schneider C, Krauß L, Fang X, Müller D, Demirdizen E, Spitzner M, De Oliveira T, Schneeweis C, Gaedcke J, Kaulfuß S, Mirzakhani K, Wollnik B, Conrads K, Beißbarth T, Salinas G, Hügel J, Beyer N, Rheinländer S, Sax U, Wirth M, Conradi
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21.08.2024

Genomic and biological panoramas of non-muscle actinopathies

Authors Di Donato N, NMA Consortium, Thom A, Rump A, Greve JN, Kropp M, Cadiñanos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Guan K, Hoffjan S, Janzarik WG, Koenig M, Kreimer I, Kuenzel K, Mancini G,
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13.07.2024

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

Authors Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L Journal Cell Reports Citation Cell Rep. 2024
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03.06.2024

Catching up but still miles behind — a patient registry for otoferlin

Authors Vona B, Wollnik B, Strenzke N, Moser T Journal Experimental & Molecular Medicine Citation Exp Mol Med (2024). Abstract No abstract available. DOI 10.1038/s12276-024-01247-6   Pubmed Link
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21.05.2024

GestaltMatcher Database – A global reference for facial phenotypic variability in rare human diseases

Authors Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Ten Hagen M, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans
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29.03.2024

Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR/Cas9 modified isogenic control (UMGi270-A-1) from a patient with sudden onset dilated cardiomyopathy harboring a FLNC p.R2187P mutation

Authors Maurer W, Rebs S, Köhne S, Eberl H, Wollnik B, Zibat A, Streckfuss-Bömeke K Journal Stem Cell Research Citation Stem Cell Res. 2024 Mar 29;77:103409. Abstract Filamin C (FLNC) is a highly important actin crosslinker and multi-adaptor protein in striated skeletal and cardiac muscle. Mutations have been linked to
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10.03.2024

3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes

Authors Pochechueva TV, Schwenzer N, Kohl T, Brandenburg S, Kaltenecker G, Wollnik B, Lehnart SE Journal International Journal of Molecular Sciences Citation Int J Mol Sci. 2024 Mar 10;25(6):3183. Abstract We present novel workflows for Q-FISH nanoscopy with the potential for prognostic applications and resolving novel chromatin compaction changes. DNA-fluorescence
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24.01.2024

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes

Authors Schmidt J, Kaulfuß S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B Journal Human Genetics Citation Hum Genet. 2024 Jan 24. Abstract The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. Within this family,
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22.01.2024

Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants

Authors Knauer C, Haltern H, Schoger E, Kügler S, Roos L, Zelarayán LC, Hasenfuss G, Zimmermann WH, Wollnik B, Cyganek L Journal Molecular Therapy: Nucleic Acids Citation Mol Ther Nucleic Acids. 2024 Jan 23;35(1):102123. Abstract Gene variants in LZTR1 are implicated to cause Noonan syndrome associated with a severe and
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