Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations - sprookjes - yvandenbroek - TriplyDB

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

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Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors Mechanisms of change in gene copy number The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10 Sumoylation of the SOX10 transcription factor regulates its transcriptional activity HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment Identification of differentially expressed genes in blood cells of narcolepsy patients PAX6 mutations: genotype-phenotype correlations Absence 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 development Adult-onset degeneration of adipose tissue in mice deficient for the Sox8 transcription factor Frame disruptions in human mRNA transcripts, and their relationship with splicing and protein structures Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10 Haplotype-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 promoter Missense 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 vesicle Sox10-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 aniridia Identification 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 syndrome Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

http://www.wikidata.org/entity/Q28248837

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2004 nî lūn-bûn

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2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2004 թվականի ապրիլին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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Molecular mechanism for distin ...... y allelic truncating mutations

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Molecular mechanism for distin ...... y allelic truncating mutations

@en

Molecular mechanism for distin ...... y allelic truncating mutations

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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

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Nature Genetics

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Molecular mechanism for distin ...... y allelic truncating mutations

@en

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Ian J Butler

http://www.w3.org/2001/XMLSchema#string

James D Reggin

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James R Lupski

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John Wilson

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Ken Inoue

http://www.w3.org/2001/XMLSchema#string

Mehrdad Khajavi

http://www.w3.org/2001/XMLSchema#string

Miles F Wilkinson

http://www.w3.org/2001/XMLSchema#string

Pedro Mancias

http://www.w3.org/2001/XMLSchema#string

Shin-ichi Hirabayashi

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P2860

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

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10.1038/NG1322

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4

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36

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2004-04-01T00:00:00Z

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6283856

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15004559

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