FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
Biomarker
|
disease |
BEFREE |
The overlap between FSHD1 and FSHD2 patients in the 9-10 D4Z4 RU range suggests that FSHD1 and FSHD2 form a disease continuum.
|
30979860 |
2019 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
These data demonstrated that FSHD2 mutations only result in decreased ATP hydrolysis, whereas many BAMS mutations can result in elevated ATPase activity and decreased eye size in <i>Xenopus</i> Interestingly, a mutation reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller <i>Xenopus</i> eye size.
|
29748383 |
2018 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552<sup>∗</sup>).
|
30327220 |
2018 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.
|
27061275 |
2017 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
Biomarker
|
disease |
CTD_human |
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
|
28067909 |
2017 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
Biomarker
|
disease |
CTD_human |
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
|
28067911 |
2017 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
|
28067909 |
2017 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
|
28067911 |
2017 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.
|
27059856 |
2016 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
|
25370034 |
2015 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
|
25256356 |
2015 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The higher frequency of restrictive lung disease in FSHD2 seen here requires confirmation in a larger cohort of FSHD2 patients.
|
24639337 |
2014 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
|
24128691 |
2013 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene, encoding a chromatin modifier of D4Z4, also result in the increased likelihood of DUX4 expression in individuals with a rare form of FSHD (FSHD2).
|
24075187 |
2013 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene, encoding a chromatin modifier of D4Z4, also result in the increased likelihood of DUX4 expression in individuals with a rare form of FSHD (FSHD2).
|
24075187 |
2013 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
|
24128691 |
2013 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
|
23143600 |
2012 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
|
23143600 |
2012 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
Biomarker
|
disease |
CTD_human |
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
|
23143600 |
2012 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
|
23143600 |
2012 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Arhinia, choanal atresia, and microphthalmia
|
0.750 |
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 |
Arhinia, choanal atresia, and microphthalmia
|
0.750 |
Biomarker
|
disease |
BEFREE |
Identification of recurrent variants suggests disease-specific residues for FSHD2 and in BAMS, consistent with a largely disease-specific localisation of variants in SMCHD1.
|
31243061 |
2019 |
Arhinia, choanal atresia, and microphthalmia
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
These data demonstrated that FSHD2 mutations only result in decreased ATP hydrolysis, whereas many BAMS mutations can result in elevated ATPase activity and decreased eye size in <i>Xenopus</i> Interestingly, a mutation reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller <i>Xenopus</i> eye size.
|
29748383 |
2018 |