Výsledky vyhledávání - "Björn Menten"

Akademický článek

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing

Autor: Laurens Léger, Jeffrey Aalders, Nina Heymans, Kiara Van Acker-Verberckt, Léa De Bleeckere, Paul Coucke, Björn Menten, Barbara Bauce, Libero Vitiello, Alessandra Rampazzo, Martina Calore, Jolanda van Hengel

Publikováno v: Stem Cell Research, Vol 81, Iss , Pp 103537- (2024)

Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (DSP). Renal

Externí odkaz: https://doaj.org/article/f84b89a06f57461ea51006e28aa511b5

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Akademický článek

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Autor: Jeffrey Aalders, Laurens Léger, Anthony Demolder, Laura Muiño Mosquera, Paul Coucke, Björn Menten, Julie De Backer, Jolanda van Hengel

Publikováno v: Stem Cell Research, Vol 67, Iss , Pp 103036- (2023)

Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein. Impaired fibrillin-1 affects multiple organ systems, including the car

Externí odkaz: https://doaj.org/article/8fb41cfcc7454bccb41cffab74b956df

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Akademický článek

Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

Autor: Lennart Raman, Malaïka Van der Linden, Kim Van der Eecken, Karim Vermaelen, Ingel Demedts, Veerle Surmont, Ulrike Himpe, Franceska Dedeurwaerdere, Liesbeth Ferdinande, Yolande Lievens, Kathleen Claes, Björn Menten, Jo Van Dorpe

Publikováno v: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)

Abstract Background Accurate lung cancer classification is crucial to guide therapeutic decisions. However, histological subtyping by pathologists requires tumor tissue—a necessity that is often intrinsically associated with procedural difficulties

Externí odkaz: https://doaj.org/article/63038e3790a042e2aee27203f717ee9e

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Akademický článek

Correcting a PLC Mutation in the Human Germ Line to Overcome Hereditary Infertility

Autor: Bieke BEKAERT, Annekatrien BOEL, Lisa DE WITTE, Mina POPOVIC, Panagiotis STAMATIADIS, Gwenny COSEMANS, Lise TORDEURS, Susana MARINA CHUVA DE SOUSA LOPES, Petra DE SUTTER, Björn MENTEN, Dominic STOOP, Paul COUCKE, Björn HEINDRYCKX

Publikováno v: Fertility & Reproduction, Vol 04, Iss 03n04, Pp 89-89 (2022)

Human germline gene correction by CRISPR/Cas9 holds great promise to eliminate transmission of genetic mutations. Recent studies have however made troublesome observations of mosaicism (the occurrence of multiple genetic events in one embryo) and los

Externí odkaz: https://doaj.org/article/bf1c12c678654bb397d64a33a8373934

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Akademický článek

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart

Externí odkaz: https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3

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Akademický článek

Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential

Autor: Lennart Raman, Malaïka Van der Linden, Ciel De Vriendt, Bliede Van den Broeck, Kristoff Muylle, Dries Deeren, Franceska Dedeurwaerdere, Sofie Verbeke, Amélie Dendooven, Katrien De Grove, Saskia Baert, Kathleen Claes, Björn Menten, Fritz Offner, Jo Van Dorpe

Publikováno v: Haematologica, Vol 107, Iss 1 (2020)

Shallow-depth sequencing of cell-free DNA, an inexpensive and standardized approach to obtain molecular information on tumors non-invasively, has been insufficiently explored for the diagnosis of lymphoma and disease follow-up. This study collected 3

Externí odkaz: https://doaj.org/article/96b66b2db00e49dbb2dbc33814abdc77

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Akademický článek

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Autor: Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

Abstract Background The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phe

Externí odkaz: https://doaj.org/article/c03422226e3b403eb6c94ac47af03afc

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