Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
about
Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumorsMechanisms of change in gene copy numberThe MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10Sumoylation of the SOX10 transcription factor regulates its transcriptional activityHNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitmentIdentification of differentially expressed genes in blood cells of narcolepsy patientsPAX6 mutations: genotype-phenotype correlationsAbsence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.Functions of the nonsense-mediated mRNA decay pathway in Drosophila developmentAdult-onset degeneration of adipose tissue in mice deficient for the Sox8 transcription factorFrame disruptions in human mRNA transcripts, and their relationship with splicing and protein structuresGenome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's diseaseNeuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoterMissense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.SOX10 mutation with peripheral amyelination and developmental disturbance of axons.The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicleSox10-Venus mice: a new tool for real-time labeling of neural crest lineage cells and oligodendrocytes.Multiple conserved regulatory elements with overlapping functions determine Sox10 expression in mouse embryogenesis.Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridiaIdentification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.Distribution and effects of nonsense polymorphisms in human genes.An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues.HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer.A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Mutations affecting GABAergic signaling in seizures and epilepsy.SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.Sox proteins in melanocyte development and melanoma.Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.The molecular machinery of myelin gene transcription in Schwann cells.Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeScreening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.
P2860
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P2860
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
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
Molecular mechanism for distin ...... y allelic truncating mutations
@ast
Molecular mechanism for distin ...... y allelic truncating mutations
@en
Molecular mechanism for distin ...... y allelic truncating mutations
@nl
type
label
Molecular mechanism for distin ...... y allelic truncating mutations
@ast
Molecular mechanism for distin ...... y allelic truncating mutations
@en
Molecular mechanism for distin ...... y allelic truncating mutations
@nl
prefLabel
Molecular mechanism for distin ...... y allelic truncating mutations
@ast
Molecular mechanism for distin ...... y allelic truncating mutations
@en
Molecular mechanism for distin ...... y allelic truncating mutations
@nl
P2093
P2860
P3181
P356
P1433
P1476
Molecular mechanism for distin ...... y allelic truncating mutations
@en
P2093
Ian J Butler
James D Reggin
James R Lupski
John Wilson
Mehrdad Khajavi
Miles F Wilkinson
Pedro Mancias
Shin-ichi Hirabayashi
P2860
P2888
P3181
P356
10.1038/NG1322
P407
P577
2004-04-01T00:00:00Z