The Epigenetic Regulator SMCHD1 in Development and Disease
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference67 articles.
1. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2;Lemmers;Nat. Genet.,2012
2. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development;Gordon;Nat. Genet.,2017
3. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome;Shaw;Nat. Genet.,2017
4. The hinge domain of the epigenetic repressor Smchd1 adopts an unconventional homodimeric configuration;Chen;Biochem. J.,2016
5. The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain;Chen;Biochem. J.,2016
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1. Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review;Medicine;2024-07-26
2. SMCHD1 maintains heterochromatin and genome compartments in human myoblasts;2024-07-10
3. Genome-wide CRISPR screenings identified SMCHD1 as a host-restricting factor for AAV transduction;PLOS Pathogens;2024-07-08
4. Single-cell atlas of human gingiva unveils a NETs-related neutrophil subpopulation regulating periodontal immunity;Journal of Advanced Research;2024-07
5. Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome;American Journal of Medical Genetics Part A;2024-05-29
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