Associated Papers
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
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
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.
Jelena B et al.
American Journal of Medical Genetics. Part A, 2014
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
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
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Chaoui A et al.
Human Mutation, 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
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
SOX10 mutation in Waardenburg syndrome type II.
Iso M et al.
American Journal of Medical Genetics. Part A, 2008
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.
Sznajer Y et al.
American Journal of Medical Genetics. Part A, 2008
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Morín M et al.
American Journal of Medical Genetics. Part A, 2008
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
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
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.
Sham MH et al.
Journal of Medical Genetics, 2001
Expression of the Sox10 gene during mouse inner ear development.
Watanabe K et al.
Brain Research. Molecular Brain Research, 2000
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
Potterf SB et al.
Human Genetics, 2000
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
Bondurand N et al.
Human Molecular Genetics, 1999