Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
about
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowthY65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicingThe XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neuronsCCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityHybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.CDKL5 variants: Improving our understanding of a rare neurologic disorder.Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
P2860
Q24337053-9C972565-5C9F-4C49-BF59-B3A966DC5CC5Q24634410-52CE3585-623C-4C93-B976-39993D5871F4Q28570665-19EF8CEF-AAAD-47EE-8CD4-3083A53F730EQ34206730-7AA64131-C709-4916-BB47-415E43E3D35EQ35030967-141BF48B-5807-45EE-BA12-DD17DA979270Q39259322-BC3149AF-287B-41ED-ADC7-022BE12DEED3Q47134048-7710CCB5-6135-4620-BDB4-E6A4EBA022C8Q57757783-45410A87-ABAA-4038-9CEC-9717CD232134
P2860
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Common pathological mutations ...... exclusion of the mutant exon.
@en
Common pathological mutations ...... exclusion of the mutant exon.
@nl
type
label
Common pathological mutations ...... exclusion of the mutant exon.
@en
Common pathological mutations ...... exclusion of the mutant exon.
@nl
prefLabel
Common pathological mutations ...... exclusion of the mutant exon.
@en
Common pathological mutations ...... exclusion of the mutant exon.
@nl
P2093
P50
P356
P1433
P1476
Common pathological mutations ...... e exclusion of the mutant exon
@en
P2093
Astrid Grimme
Charles E Schwartz
Hans-Hilger Ropers
Luciana Musante
Stella-Amrei Kunde
Tina O Sulistio
Ute Fischer
P356
10.1002/HUMU.21146
P577
2010-01-01T00:00:00Z