|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
BEFREE |
To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).
|
21647273 |
2011 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
Biomarker |
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 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
LHGDN |
Therefore, unequal crossing-over of 2 PABP2 alleles, rather than DNA slippage, is probably the causative mechanism of OPMD mutations.
|
11890856 |
2002 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
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 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
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 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
BEFREE |
Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion in the polyadenylation binding protein 2 (PABP2) gene.
|
11087766 |
2000 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
Biomarker |
BEFREE |
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy.
|
11079546 |
2000 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
AlteredExpression |
BEFREE |
Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy.
|
11003790 |
2000 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
Biomarker |
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 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
BEFREE |
Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene.
|
10734263 |
2000 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
LHGDN |
Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy.
|
11003790 |
2000 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
BEFREE |
Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry.
|
10508991 |
1999 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
BEFREE |
Autosomal recessive OPMD is caused by a double dose of a (GCG)7 PABP2 allele.
|
10711989 |
1999 |
|
PABPC1P2
|
Muscular Dystrophy, Oculopharyngeal
|
0.100 |
GeneticVariation |
BEFREE |
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
|
9462747 |
1998 |