Wollnik, Bernd

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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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20.06.2023

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

Authors Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono
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02.05.2023

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

Authors Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K Journal Orphanet Journal of Rare Diseases Citation Orphanet J Rare Dis. 2023 May 2;18(1):101. Abstract Background: The term congenital ocular motor
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28.12.2022

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the Guanine Exchange Domain

Authors Averdunk L, Al-Thihli K, Surowy H, Lüdecke HJ, Drechsler M, Yigit G, Smorag L, Hallak BA, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Abou Jamra R, Al-Maawali A, Wieczorek D Journal Clinical Genetics Citation Clin Genet. 2022 Dec 28. Abstract Protein translation is an
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16.11.2022

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

Authors Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Journal Frontiers in Cell and Developmental Biology Citation Front Cell Dev Biol. 2022 Nov 16;10:1025332. Abstract STAG2
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11.10.2022

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Authors Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G Journal Human Genetics Citation Human Genetics. preprint under review. 2022 Abstract Arthrogryposis multiplex congenita forms a broad group of
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05.07.2022

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly

Authors Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li
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07.06.2022

Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome

Authors Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Jun 7. Abstract Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent
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08.03.2022

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease

Authors Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G Journal Scientific Reports Citation Sci Rep. 2022 Mar 8;12(1):4091. Abstract Single cell multi-omics analysis has the potential to yield a comprehensive understanding of the cellular events that underlie the
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