Associated Papers
22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome.
Zhang W et al.
European Journal of Ophthalmology, 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
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Burke EA et al.
American Journal of Medical Genetics. Part A, 2020
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
Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease.
Truch K et al.
Human Molecular Genetics, 2018
Waardenburg Syndrome Expression and Penetrance.
Shelby MV
Journal of Rare Diseases Research & Treatment, 2017
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene.
Oshimo T et al.
The Journal of Dermatology, 2012
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
Jiang L et al.
Biochemical and Biophysical Research Communications, 2011
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
Hypomorphic Sox10 alleles reveal novel protein functions and unravel developmental differences in glial lineages.
Schreiner S et al.
Development (cambridge, England), 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
SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells.
Yokoyama S et al.
The Febs Journal, 2006
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
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
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.
Sham MH et al.
Journal of Medical Genetics, 2001
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
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.
Southard-Smith EM et al.
Genome Research, 1999