Wollnik, Bernd

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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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16.11.2023

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings

Authors Kalay I, Aykut H, Caliskan Z, Yigit G, Wollnik B Journal Molecular Genetics and Metabolism Reports Citation Mol Genet Metab Rep. 2023 Nov 16;37:101022. Abstract Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals
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14.11.2023

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Authors Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O’Connor N, Bhoj EJ, Harr MH, Lemire
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30.10.2023

An NFATc1/SMAD3/cJUN complex restricted to SMAD4-deficient pancreatic cancer guides rational therapies

Authors Hasselluhn MC, Schlösser D, Versemann L, Schmidt GE, Ulisse M, Oschwald J, Zhang Z, Hamdan F, Xiao H, Kopp W, Spitalieri J, Kellner C, Schneider C, Reutlinger K, Nagarajan S, Steuber B, Sastra SA, Palermo CF, Appelhans J, Bohnenberger H, Todorovic J, Kostyuchek I, Ströbel P, Bockelmann A, König
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30.08.2023

N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobody

Authors Zibat A, Zhang X, Dickmanns A, Stegmann KM, Dobbelstein A, Alachram H, Soliwoda R, Salinas G, Groß U, Görlich D, Kschischo M, Wollnik B, Dobbelstein M Journal iScience Citation iScience. 2023 Aug 30;26(10):107786. Abstract N4-hydroxycytidine (NHC), the active compound of the drug Molnupiravir, is incorporated into SARS-CoV-2 RNA, causing
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