Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
about
Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Genetic and epigenetic contributors to FSHD.CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesLoss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Facioscapulohumeral Muscular Dystrophy.
P2860
Q33599586-29399493-D191-4E1B-9CBF-FA9202865AACQ33602618-B72B9918-BB09-4B76-B382-893980856EB1Q34515410-ECC1C4BA-BA89-4805-9432-6BCE3B195C3BQ35518696-AFE3BFFB-1632-4FBD-BE88-2338603DF5BBQ36135207-21B3AA43-6157-4217-9849-FCF654E54A91Q36359473-43217A51-5F27-49A5-BAD6-329DE57704C4Q36675292-09D16836-B99A-4B5D-9FE3-9394F923279FQ36695157-3208147C-2606-460B-B62A-5617162691D4Q36695869-EB8D6C60-41FD-4B3C-8603-E2334E3EB406Q37607062-60AF5FDC-EEE6-4A73-AB7E-3D275D1D6A70Q38538325-AF8526C1-AF60-402E-9CF0-EC58EBF2AF72Q52506936-27277473-4C05-491F-B809-FD89C4DD6044
P2860
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Exome sequencing identifies a ...... ohumeral muscular dystrophy 2.
@en
Exome sequencing identifies a ...... ohumeral muscular dystrophy 2.
@nl
type
label
Exome sequencing identifies a ...... ohumeral muscular dystrophy 2.
@en
Exome sequencing identifies a ...... ohumeral muscular dystrophy 2.
@nl
prefLabel
Exome sequencing identifies a ...... ohumeral muscular dystrophy 2.
@en
Exome sequencing identifies a ...... ohumeral muscular dystrophy 2.
@nl
P2093
P2860
P50
P1476
Exome sequencing identifies a ...... ohumeral muscular dystrophy 2.
@en
P2093
Anthony A Amato
Elicia A Estrella
Fedik Rahimov
Louis M Kunkel
Peter B Kang
Rebecca D Folkerth
Satomi Mitsuhashi
Steven E Boyden
P2860
P304
P356
10.1016/J.NMD.2013.08.009
P577
2013-08-31T00:00:00Z