Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
about
Y65C 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 signalingPolyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stressNematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolismDetecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.A 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 cellsPQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.Solution model of the intrinsically disordered polyglutamine tract-binding protein-1.X linked mental retardation: a clinical guide.Complex 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.Nucleocytoplasmic shuttling of the splicing factor SIPP1.Exonic 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.Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs.Expression of human PQBP-1 in Drosophila impairs long-term memory and induces abnormal courtship.Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
P2860
Q24634410-64624933-387E-4ACE-B2AC-1B8FFACC586CQ24655073-7ED09418-61E1-4F79-8FD3-312818CC3F25Q27027343-E8AD6B72-34DE-4F08-A584-03D3DF71CE37Q27690128-4EE4014D-90FA-4756-B2D7-91428A291883Q28247678-580046EC-8C8F-4E7D-836C-FF418EC4C12EQ28267631-00CF1E90-DD7E-4869-87B0-DE490F3FD95FQ33396944-3CBE740D-FC1F-456E-8D69-9E189B94CA0BQ34124844-B9692249-1824-4218-9EC9-25F7F4FAB8D1Q34573174-CAA16B8B-B179-4DCA-A5CA-93E4EA467820Q34849912-BE110A0A-893E-4F23-8D96-34E7737C8F35Q35854630-70D15300-347A-4280-83FE-9C3722A0AE56Q35866822-D8CDAB97-E3C7-4905-881B-6F613CB2F7B4Q36239035-39EEAB57-D4D7-4EB7-96E0-A1C01C49B48BQ37408049-E7EA8B4C-74F1-4858-A671-3299EA817B94Q38089667-DE63A87D-717E-4F80-B375-E80F2B6AE90DQ38700619-226A3560-A082-4233-B076-694DD70F3163Q40373565-3AE9F7F7-B7B8-4B13-A82F-BC3993A83627Q41919819-7D713825-5DE3-44A3-9431-DAECE892D872Q42152388-F1A439D0-F120-4294-9AE0-3A166E8FB5A3Q43804873-7D813FC2-EF27-4DE1-A768-9ECF8D4FF4D9Q47070332-73B09EFD-ECB4-4858-9D62-F23A3CFDAE92Q48592641-C962E778-B449-4406-BE74-91FDC7E45470Q57757783-EB86DB8A-EE83-4233-80CE-CB3131EC4268
P2860
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
description
2004 nî lūn-bûn
@nan
2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Novel truncating mutations in ...... other family with microcephaly
@ast
Novel truncating mutations in ...... other family with microcephaly
@en
Novel truncating mutations in ...... other family with microcephaly
@nl
type
label
Novel truncating mutations in ...... other family with microcephaly
@ast
Novel truncating mutations in ...... other family with microcephaly
@en
Novel truncating mutations in ...... other family with microcephaly
@nl
prefLabel
Novel truncating mutations in ...... other family with microcephaly
@ast
Novel truncating mutations in ...... other family with microcephaly
@en
Novel truncating mutations in ...... other family with microcephaly
@nl
P2093
P2860
P356
P1476
Novel truncating mutations in ...... other family with microcephaly
@en
P2093
Alice Gibson
Charles E Schwartz
Claus Lenski
Fatima Abidi
Herbert A Lubs
Juliane Ramser
R Frank Kooy
Roger E Stevenson
P2860
P304
P356
10.1086/383205
P407
P577
2004-04-01T00:00:00Z