Wollnik, Bernd

Home >> Publications >> Author >> Wollnik, Bernd
Feature image not available
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,
Learn More
Feature image not available
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
Learn More
Feature image not available
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
Learn More
Feature image not available
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
Learn More
Feature image not available
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
Learn More
Feature image not available
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
Learn More
Feature image not available
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
Learn More
Feature image not available
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
Learn More
Feature image not available
10.01.2023

LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

Authors Busley AV, Gutiérrez-Gutiérrez O, Hammer E, Steinegger M, Böhmer L, Schroeder H, Kleinsorge M, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Wollnik B, Cyganek L Journal BioRxiv Citation bioRxiv 2023.01.10.523203. Abstract Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset
Learn More
Feature image not available
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
Learn More
X
EN DE
X
X