Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-pairedPromiscuous modification of the nuclear poly(A)-binding protein by multiple protein-arginine methyltransferases does not affect the aggregation behaviorOver- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismSomatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery.Involvement of the HLXB9 homeobox gene in Currarino syndromeTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyThe Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis3' end mRNA processing: molecular mechanisms and implications for health and diseaseUgMicroSatdb: database for mining microsatellites from unigenesComparative genomics and molecular dynamics of DNA repeats in eukaryotesChromosomal localization of three human poly(A)-binding protein genes and four related pseudogenesPoly(A)-binding proteins: multifunctional scaffolds for the post-transcriptional control of gene expressionProcessing and transcriptome expansion at the mRNA 3' end in health and disease: finding the right endA muscle stem cell for every muscle: variability of satellite cell biology among different muscle groupsThe long and the short of it: the role of the zinc finger polyadenosine RNA binding protein, Nab2, in control of poly(A) tail lengthEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseAll's well that ends well: alternative polyadenylation and its implications for stem cell biologyAutomated design of hammerhead ribozymes and validation by targeting the PABPN1 gene transcript.Human HOX gene mutationsA mass spectrometry-based proteomic approach for identification of serine/threonine-phosphorylated proteins by enrichment with phospho-specific antibodies: identification of a novel protein, Frigg, as a protein kinase A substrateHnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophyMutations in the caveolin-3 gene: When are they pathogenic?Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humansMammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophyPolyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibilityPolyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1Formation of mRNA 3' ends in eukaryotes: mechanism, regulation, and interrelationships with other steps in mRNA synthesisOculopharyngeal muscular dystrophy as a rare cause of dysphagia.Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1).Effect of trehalose on protein structureAutologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study.Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.Ethical issues in DNA testing.Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1Identification of the neuromuscular junction transcriptome of extraocular muscle by laser capture microdissection.Cleidocranial dysplasia: clinical and molecular genetics.Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis.Influence of the stability of a fused protein and its distance to the amyloidogenic segment on fibril formation.Biology of the fragile X mental retardation protein, an RNA-binding protein.
P2860
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P2860
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@ast
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@en
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@en-gb
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@nl
type
label
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@ast
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@en
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@en-gb
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@nl
prefLabel
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@ast
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@en
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@en-gb
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
@en
P2093
A D Korcyn
A Duranceau
D L Rochefort
G A Rouleau
J M Rommens
N Chrétien
P2860
P2888
P3181
P356
10.1038/NG0298-164
P407
P577
1998-02-01T00:00:00Z
P5875
P6179
1029399242