Associated Papers
A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.
Wakabayashi T et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.
Yu X et al.
Neural Plasticity, 2020
A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
Hamada J et al.
Human Genome Variation, 2020
Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.
Chen K et al.
Frontiers in Endocrinology, 2020
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
Suzuki N et al.
Bmc Pediatrics, 2018
A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve.
Law WD et al.
Bmc Genomics, 2018
De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism.
Wang F et al.
Annals of Clinical and Laboratory Science, 2018
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
Fogarty EA et al.
Human Molecular Genetics, 2016
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
Ma J et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
Chaoui A et al.
Human Molecular Genetics, 2015
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.
Brewer MH et al.
Human Molecular Genetics, 2014
SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter.
Hodonsky CJ et al.
Molecular and Cellular Neurosciences, 2012
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Chaoui A et al.
Human Mutation, 2011
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.
Prasad MK et al.
Bmc Developmental Biology, 2011
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
Osaka H et al.
Annals of Neurology, 2010
SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies.
Cossais F et al.
Human Molecular Genetics, 2010
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.
Sánchez-Mejías A et al.
Journal of Molecular Medicine (berlin, Germany), 2010
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
Viñuela A et al.
American Journal of Medical Genetics. Part A, 2009
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Bondurand N et al.
American Journal of Human Genetics, 2007
Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
Yokoyama S et al.
Journal of Biochemistry, 2006
Sumoylation of the SOX10 transcription factor regulates its transcriptional activity.
Girard M et al.
Febs Letters, 2006
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
Verheij JB et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2006
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.
Chan KK et al.
Journal of Cellular Biochemistry, 2003
The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.
Mollaaghababa R et al.
Oncogene, 2003
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.
Lang D et al.
Human Molecular Genetics, 2003
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Inoue K et al.
Annals of Neurology, 2002
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.
Bondurand N et al.
Human Molecular Genetics, 2001
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.
Verastegui C et al.
The Journal of Biological Chemistry, 2000
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
Bondurand N et al.
Human Molecular Genetics, 2000
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
Potterf SB et al.
Human Genetics, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
Touraine RL et al.
American Journal of Human Genetics, 2000
Cell type-specific activation of neuronal nicotinic acetylcholine receptor subunit genes by Sox10.
Liu Q et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Pingault V et al.
Nature Genetics, 1998