Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants  

作　　者：Kévin Cassinari Anne Rovelet-Lecrux Céline Derambure Myriam Vezain Sophie Coutant Anne-Claire Richard Nathalie Drouot Juliette Coursimault Gabriella Vera Alice Goldenberg Pascale Saugier-Veber Camille Charbonnier Gaël Nicolas 

机构地区：[1]Univ Rouen Normandie,Normandie Univ,Inserm U1245 and CHU Rouen,Department of Genetics and Reference Center for Developmental Disorders,Rouen F-76000,France [2]Univ Rouen Normandie,Normandie Univ,Inserm U1245 and CHU Rouen,Department of Biostatistics,F-76000 Rouen,France

出　　处：《Genes & Diseases》2025年第3期68-71,共4页基因与疾病(英文)

基　　金：the Institutional Review Board of the Rouen University Hospital(CERDE notification E2023-65).

摘　　要：Cornelia de Lange Syndrome(CdLS)is an intellectual disability syndrome characterized by distinctive clinical features including growth retardation,limb malformation,and a characteristic facial dysmorphism.1 Six genes,including NIPBL and MAU2,are associated with CdLS,all encoding components or partners of the cohesin protein complex.Cohesins play a central role in gene expression regulation by organizing chromatin and modulating transcription.2 CdLS is classified as a transcriptomopathy due to dysregulated transcription resulting from pathogenic variants in cohesin-related genes.NIPBL mutations are the most common cause of CdLS,impairing cohesin loading onto DNA.

关 键 词：gene expression regulation growth retardationlimb mau protein levels nipbl pathogenic variants facial dysmorphism transcriptomic consequences organizing chromatin intellectual disability syndrome 

分 类 号：R73[医药卫生—肿瘤]