Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
about
Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicingEpigenetic principles and mechanisms underlying nervous system functions in health and diseaseFragile 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 neuronsStatus quo of annotation of human disease variants.Prioritizing genes for X-linked diseases using population exome data.The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.In 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 syndromeComplex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.Ultra-Early Phase pathologies of Alzheimer's disease and other neurodegenerative diseases.Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.Sequence determinants of thermodynamic stability in a WW domain--an all-beta-sheet protein.
P2860
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P2860
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
description
2006 nî lūn-bûn
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2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
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name
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@ast
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@en
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@nl
type
label
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@ast
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@en
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@nl
prefLabel
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@ast
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@en
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@nl
P2093
P2860
P3181
P356
P1476
Golabi-Ito-Hall syndrome resul ...... he WW domain of the PQBP1 gene
@en
P2093
C E Schwartz
L Holloway
R E Stevenson
R Echeverri
P2860
P3181
P356
10.1136/JMG.2005.037556
P407
P577
2006-06-01T00:00:00Z