|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We find that FSHD and BAMS patient's cells carrying SMCHD1 mutations are both permissive for DUX4 expression, a transcription factor whose regulation has been proposed as the main trigger for FSHD.
|
30698748 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and <i>SMCHD1</i>.
|
30979860 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
However, although human mutations in <i>SMCHD1</i> are associated with congenital arhinia and facioscapulohumeral muscular dystrophy type 2 (FSHD2), the diseases do not show a sex-specific bias, despite the essential nature of XCI in humans.
|
31420322 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
|
31600781 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue.
|
30911870 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
|
31243061 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the <i>SMCHD1</i> gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction.
|
29980640 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4.
|
30281091 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Recently, heterozygous mutations in <i>SMCHD1</i> have been reported in two disparate disorders: facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS).
|
29748383 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18).
|
30055030 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The chromatin changes in this form of FSHD (FSHD2) are the result, in most cases, of mutations in SMCHD1, a gene on chromosome 18 involved in chromatin regulation.
|
29478599 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
SMCHD1 is a disease modifier and a causative gene for facioscapulohumeral muscular dystrophy (FSHD) type 1 and type 2, respectively.
|
30071896 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) 2 is caused by a combination of heterozygous structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) mutation plus DNA hypomethylation on D4Z4.
|
30327220 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Digenic inheritance of a <i>SMCHD1</i> mutation and a moderately sized D4Z4 repeat on a facioscapulohumeral muscular dystrophy (FSHD) permissive genetic background of chromosome 4 can cause FSHD type 2 (FSHD2).
|
29563141 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To date, two forms of FSHD (FSHD1 and FSHD2) are known.
|
30546343 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Structural maintenance of chromosome flexible domain containing 1 (Smchd1) is a chromatin regulatory gene for which mutations are associated with facioscapulohumeral muscular dystrophy and arhinia.
|
29900695 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4 macrosatellite repeat contraction in chromosome 4q35 (FSHD1) or variants in genes encoding D4Z4 chromatin repressors (FSHD2).
|
29162933 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2).
|
28587678 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.
|
28067911 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism.
|
28067909 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
This working hypothesis for FSHD pathogenesis highlights the intrinsic epigenetic nature of the molecular mechanism underlying FSHD as well as the pathogenic pathway connecting FSHD1 and FSHD2.
|
27816329 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
FSHD2, the less common form of FSHD, is most often caused by heterozygous variants in the chromatin modifier SMCHD1, which is involved in the maintenance of D4Z4 methylation.
|
25782668 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2).
|
27634379 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2.
|
26831754 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
|
25370034 |
2015 |