Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
about
The armadillo repeat-containing protein, ARMCX3, physically and functionally interacts with the developmental regulatory factor Sox10Enteric nervous system development: migration, differentiation, and diseaseTargeted deletion of Sox10 by Wnt1-cre defects neuronal migration and projection in the mouse inner earA sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathyEDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateSOX10 mutation with peripheral amyelination and developmental disturbance of axons.Clinical and genetic investigation of families with type II Waardenburg syndrome.A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicleNovel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiationPAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1Sox proteins in melanocyte development and melanoma.Analysis of early human neural crest development.Interaction of Sox1, Sox2, Sox3 and Oct4 during primary neurogenesis.A curated online resource for SOX10 and pigment cell molecular genetic pathwaysScreening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.Antagonistic cross-regulation between Sox9 and Sox10 controls an anti-tumorigenic program in melanoma.Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patientMicrophthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo.Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.Genetics of Hearing Loss: SyndromicCellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.Primary anorectal melanoma: an updateNew loci for body fat percentage reveal link between adiposity and cardiometabolic disease riskA novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafnessWaardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.The etiology and molecular genetics of human pigmentation disordersMolecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing lossPiebaldism.Development and developmental disorders of the enteric nervous system.Hirschsprung disease: a developmental disorder of the enteric nervous system.
P2860
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P2860
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
@ast
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
@en
type
label
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
@ast
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
@en
prefLabel
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
@ast
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
@en
P2093
P2860
P50
P356
P1476
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
@en
P2093
Anis Echaieb
Florence Dastot-Le Moal
Irina Giurgea
Laure Stanchina
Laurent Skopinski
Marilyn Lackmy-Port-Lis
Michel Goossens
Nadege Bondurand
Nathalie Collot
Pierre Sarda
P2860
P304
P356
10.1086/522090
P407
P577
2007-10-22T00:00:00Z