|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The results of this study suggest that OPMD in the Mexican population is mostly due to (GCG)(11) or (GCG)(9) PABPN1 expanded alleles arising from two independent founder effect mutations.
|
18577654 |
2008 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is caused by polyalanine expansion in nuclear protein PABPN1 [poly(A) binding protein nuclear 1] and characterized by muscle degeneration.
|
18397876 |
2008 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
AlteredExpression
|
disease |
LHGDN |
This raises the possibility that a compromise of the anti-apoptotic function of PABPN1 might contribute to the disease mechanism of OPMD.
|
18178579 |
2008 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
OPMD is caused by a small expansion of a short polyalanine tract in the poly (A) binding protein nuclear 1 protein (PABPN1).
|
17110089 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD.
|
17138075 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive OPMD with a homozygous (GCG)7 expansion of PABPN1 has only been described in two Canadian patients, who showed a comparably mild phenotype, suggesting that it is less severe than the dominant form.
|
17206657 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.
|
17418585 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
LHGDN |
Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the fibrillation properties of the N-terminal domain of PABPN1.
|
17229142 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.
|
18175083 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Detailed family history and clinical assessment of the OPMD patient were followed by mutation analysis of the PABPN1 gene by direct DNA sequencing and by our newly developed method, fluorescent PABPN1 polymerase chain reaction (PCR) product (flPPP) method.
|
16481821 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, autosomal dominant disease caused by the abnormal expansion of a polyalanine tract within the coding region of poly(A) binding protein nuclear 1 (PABPN1).
|
16530457 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the PABPN1 in OPMD provokes premature senescence in dividing myoblasts, that may be due to intranuclear toxic aggregates.
|
17005403 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Mutation of the PABPN1 in OPMD provokes premature senescence in dividing myoblasts, that may be due to intranuclear toxic aggregates.
|
17005403 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is due to short elongations of a polyalanine tract in the poly(A) binding protein nuclear 1 (PABPN1) gene.
|
16619122 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
We have created a Drosophila model of OPMD that recapitulates the features of the human disorder: progressive muscle degeneration, with muscle defects proportional to the number of alanines in the tract, and formation of PABPN1 nuclear inclusions.
|
16642034 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is caused by expansion of a (GCN)10 to a (GCN)11-17 repeat coding for a polyalanine domain at the N-terminal part of poly(A) binding protein nuclear 1 (PABPN1).
|
16860991 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
The presence of PABPN1-containing intranuclear aggregates in skeletal muscle is unique for OPMD and is also observed in transgenic mouse and cell models for OPMD.
|
16319127 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A case was identified with typical symptoms of OPMD, negative for the repeat expansion mutation but with a missense mutation in PABPN1 close to the 3' end of the normal polyalanine codon repeat sequence.
|
16648376 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
|
15725589 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.
|
15645184 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Our results indicate that the nuclear localization of mutant PABPN1 is crucial to OPMD pathogenesis.
|
16101680 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder caused by a (GCG)n trinucleotide repeat expansion in the poly(A) binding protein nuclear-1 (PABPN1) gene, which in turn leads to an expanded polyalanine tract in the protein.
|
15755680 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
CTD_human |
Nuclear inclusions formed by the aggregation of a polyalanine expansion mutant of the nuclear poly(A)-binding protein (PABPN1) is a hallmark of oculopharyngeal muscular dystrophy (OPMD).
|
16239242 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that the nuclear localization of mutant PABPN1 is crucial to OPMD pathogenesis.
|
16101680 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
OPMD is characterized by intranuclear inclusions (INIs) in skeletal muscle fibers, which contain PABPN1, molecular chaperones, ubiquitin, proteasome subunits, and poly(A)-mRNA.
|
15755682 |
2005 |