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. SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease;Nature Communications;2023-09-25
2. Genome-Wide CRISPR-Cas9 Screen Identifies SMCHD1 as a Restriction Factor for Herpesviruses;mBio;2023-04-25
3. Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report;World Journal of Medical Genetics;2023-03-10
4. Preimplantation embryo gene expression: 56 years of discovery, and counting;Molecular Reproduction and Development;2023-02-22
5. Non-coding autoimmune risk variant accelerates T peripheral helper cell development via ICOS;2022-12-16
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