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 splicingGolabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 geneFragile X and X-linked intellectual disability: four decades of discoveryMutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kDThe splicing factor PQBP1 regulates mesodermal and neural development through FGF signalingThe XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neuronsNematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolismThe Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.Genetic basis of congenital cardiovascular malformationsA two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cellsIn utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cellsSolution model of the intrinsically disordered polyglutamine tract-binding protein-1.Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndromeExonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs.Ocular manifestations in the X-linked intellectual disability syndromes.Expression of human PQBP-1 in Drosophila impairs long-term memory and induces abnormal courtship.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Renpenning syndrome comes into focus
@ast
Renpenning syndrome comes into focus
@en
Renpenning syndrome comes into focus
@nl
type
label
Renpenning syndrome comes into focus
@ast
Renpenning syndrome comes into focus
@en
Renpenning syndrome comes into focus
@nl
prefLabel
Renpenning syndrome comes into focus
@ast
Renpenning syndrome comes into focus
@en
Renpenning syndrome comes into focus
@nl
P2093
P3181
P356
P1476
Renpenning syndrome comes into focus
@en
P2093
B C J Hamel
C E Schwartz
C W Bennett
M Porteous
R J Simensen
Roger E Stevenson
P304
P3181
P356
10.1002/AJMG.A.30664
P407
P577
2005-05-01T00:00:00Z