A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
about
Y65C 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 diseaseMutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kDThe splicing factor PQBP1 regulates mesodermal and neural development through FGF signalingPrioritizing genes for X-linked diseases using population exome data.BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.Solution 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 syndromeAllosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.Ocular manifestations in the X-linked intellectual disability syndromes.Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
P2860
Q24634410-76F827E2-8120-4086-8013-434730041560Q24657549-7B35D81A-510B-4504-B274-2F091F7B69CFQ27690128-10B6C788-7FF2-4A24-9CC9-D3DEFB0C9BD7Q28247678-4A2B255C-39A2-4183-A15B-E4297CAFAA85Q30850994-735B0832-BEA5-4BBC-9208-1E4FB0362B0CQ33677028-C86F0E81-B587-45C2-B0C7-145130056A4BQ33719820-40C9763D-1E72-49B8-BBD7-E292B41EDFB5Q35866822-411313DD-32A5-4A80-BB8E-AD1B04C79449Q37125539-CA9AEE72-4B47-4CBE-A9B7-80BF7E171672Q42152388-E83E4C15-9A18-4CFE-9F52-90E06D99BE07Q47820674-46219491-24F0-4F55-BAF1-B60918760E5BQ50702701-9D895A92-0E3A-4ABD-A7ED-4E0AA2332B60
P2860
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին 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
@wuu
name
A two base pair deletion in th ...... phaly, and mental retardation.
@ast
A two base pair deletion in th ...... phaly, and mental retardation.
@en
A two base pair deletion in th ...... phaly, and mental retardation.
@nl
type
label
A two base pair deletion in th ...... phaly, and mental retardation.
@ast
A two base pair deletion in th ...... phaly, and mental retardation.
@en
A two base pair deletion in th ...... phaly, and mental retardation.
@nl
prefLabel
A two base pair deletion in th ...... phaly, and mental retardation.
@ast
A two base pair deletion in th ...... phaly, and mental retardation.
@en
A two base pair deletion in th ...... phaly, and mental retardation.
@nl
P2093
P2860
P50
P356
P1476
A two base pair deletion in th ...... ephaly, and mental retardation
@en
P2093
Félix Prieto
Juliane Ramser
Kerstin Kutsche
Maria D Moltó
Miguel Tomás
P2860
P2888
P356
10.1038/SJ.EJHG.5201717
P577
2006-10-11T00:00:00Z