|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
|
9462747 |
1998 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
As part of our effort to clone positionally the oculopharyngeal muscular dystrophy (OPMD) gene, we constructed a YAC contig, a cosmid contig, and an EcoRI restriction map of the OPMD candidate region.
|
9782086 |
1998 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Canadians.
|
10508991 |
1999 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Short expansions of a (GCG)6 repeat located in exon 1 of the newly isolated PABP2 gene have been demonstrated in a large number of OPMD families.
|
10680791 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive OPMD is caused by a double dose of a (GCG)7 PABP2 allele.
|
10711989 |
1999 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene.
|
10734263 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias.
|
10838245 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Positive immunoreaction for polyclonal PABP2 was confined to the intranuclear aggregates of muscle fibers exclusively in patients with OPMD.
|
11003790 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy.
|
11079546 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.
|
11079550 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion in the polyadenylation binding protein 2 (PABP2) gene.
|
11087766 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French-Canadian and Italian pedigrees.
|
11150975 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
We conclude that PABP2 analysis is a reliable non-invasive diagnostic test for OPMD in the UK population.
|
11222452 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Whereas PABP2 is expressed ubiquitously, the clinical and pathological features of OPMD patients are restricted to the skeletal muscle.
|
11371506 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy.
|
11595511 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
These findings suggest that oligomerization of PABPN1 plays a crucial role in the formation of OPMD nuclear protein aggregation, while the expanded polyalanine stretch is necessary but not sufficient to induce OPMD protein aggregation, and that the nuclear protein aggregation might be toxic and cause cell death.
|
11689481 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for poly(A) binding protein 2 (PABP2) and is found in isolated cohorts throughout the world.
|
11712939 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a 65-year-old man with a 15-year history of oculopharyngeal muscular dystrophy (OPMD) harboring a (GCG)11 mutation of the poly(A)-binding protein 2 (PABP2) gene.
|
11754191 |
2002 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
We analyzed PABP2 using polymerase chain reaction analysis and DNA sequencing in Japanese patients with pathologically confirmed OPMD, and found mutated (GCG)(6)GCA(GCG)(3)(GCA)(3)GCG and (GCG)(6)(GCA)(3)(GCG)(2)(GCA)(3)GCG alleles instead of the normal (GCG)(6)(GCA)(3)GCG allele.
|
11890856 |
2002 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region.
|
12062252 |
2002 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
|
12673802 |
2003 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
CTD_human |
Diagnosis and treatment of oculopharyngeal dystrophy: a report of three cases from the same family.
|
12823221 |
2003 |