Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.
Gurzau AD et al.
The Biochemical Journal, 2021
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau AD et al.
The Journal of Biological Chemistry, 2018
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
Mason AG et al.
Skeletal Muscle, 2017
28587678 (PubMed )
Supplement: 13395_2017_129_MOESM1_ESM.pdf
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND et al.
Nature Genetics, 2017
The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.
Chen K et al.
The Biochemical Journal, 2016
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
Larsen M et al.
European Journal of Human Genetics : Ejhg, 2015
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ et al.
Nature Genetics, 2012
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