|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level.
|
31067297 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
We developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprising patient-identified areas of functional burden for future clinical trials.
|
29381807 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent progresses in the understanding of facioscapulohumeral muscular dystrophy (FSHD) genetics opened the way to the development of targeted therapies.
|
28456937 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review article focuses on the underlying FSHD genetics, current understanding of the pathomechanism, and potential treatment strategies in FSHD.
|
30361930 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
Currently, the identification of areas that are at risk of FMD virus incursion and spread is a priority for FMD target surveillance after FMD is eradicated from a given country or region.
|
28552973 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, DUX4 is difficult to detect in FSHD muscle biopsies and it is debatable how robust changes in DUX4 target gene expression are as an FSHD biomarker.
|
29255294 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
|
26733561 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We compare molecular combing to Southern blot in the analysis of the facioscapulohumeral muscular dystrophy type 1 locus (FSHD1) on chromosome 4q35-qter (chr 4q) in genomic DNA specimens sent to a clinical laboratory for FSHD testing.
|
26420234 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD: MIM#158900) is a common myopathy with marked but largely unexplained clinical inter- and intra-familial variability.
|
25256356 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The expression of this gene is altered by TPE-OLD in myoblasts from patients affected with the age-associated genetic disease, facioscapulohumeral muscular dystrophy (FSHD1A, MIM 158900).
|
26359233 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
This highlights the importance of the 3A-DCTN3 interaction in FMD virus virulence and provides possible mechanisms of virus attenuation for the development of improved FMD vaccines.
|
24352458 |
2014 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
A panel of FSHD biomarkers including contracted D4Z4 array repeat combined with the 4qA(159/161/168)PAS haplotype has been proposed as molecular signature for defining alleles causally related to FSHD.
|
24321734 |
2014 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
Infantile FSHD is relatively rare, amounting to 4% of all of our FSHD patients.
|
16934468 |
2006 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy type 1A (FSHD1A) is an autosomal dominant inherited disorder characterized by early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles.
|
15857184 |
2005 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
|
12874395 |
2003 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The most popular model for how the 4q35 array-shortening causes FSHD is that it results in a loss of postulated D4Z4 heterochromatinization, which spreads proximally, leading to overexpression of FSHD genes in cis.
|
14506132 |
2003 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
The gene for FSHD has been mapped to 4q35 (FSHD1A) and is closely linked to D4F1O4S1, which detects two highly polymorphic loci (located at 4q35 and 10q26), with restriction enzyme EcoRI.
|
9132141 |
1997 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The localization of the gene for the majority of cases of facioscapulohumeral muscular dystrophy is established as 4q35-qter (FSHD1A), although locus heterogeneity has been demonstrated with a minority of families unlinked to 4q.
|
10732819 |
1997 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
YAC contigs for 4q35 in the region of the facioscapulohumeral muscular dystrophy (FSHD) gene.
|
8188296 |
1994 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have used recently characterized p13E-11/D4S809 probes that map near or within the FSHD gene to investigate eight sporadic cases of FSHD whose parents showed no signs of disease.
|
8232958 |
1993 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A genetic map of five polymorphic markers in the area of the facioscapulohumeral muscular dystrophy (FSHD) gene on chromosome 4q35-qter has been constructed.
|
1642239 |
1992 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.
|
1642240 |
1992 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Members of an international consortium for linkage analysis of the facioscapulohumeral muscular dystrophy (FSHD) gene have pooled data for joint analyses, in an attempt to determine the precise location of the FSHD gene and the order of four DNA markers on 4q35 region.
|
1642237 |
1992 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
Biomarker
|
disease |
BEFREE |
A family is reported in which the father was affected by facioscapulohumeral muscular dystrophy FSHD.
|
1822806 |
1991 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have recently assigned the facioscapulohumeral muscular dystrophy (FSHD) gene to chromome 4 by linkage to the microsatellite marker Mfd 22 (locus D4S171).
|
2037288 |
1991 |