Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.

Biochemical and biophysical research communications - 4 Nov 2017

Wang Xue-Ping, Hao Zi-Qi, Liu Ya-Lan, Mei Ling-Yun, He Chu-Feng, Niu Zhi-Jie, Sun Jie, Zhao Yu-Lin, Feng Yong

Abstract excerpt

Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Recently, we identified a SOX10 missense...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to PAX3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Mutation

Share to PAX3 Transcription Factor

Share to Polymorphism, Single Nucleotide

Share to SOXE Transcription Factors

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 28893539
DOI: 10.1016/j.bbrc.2017.09.034

Genes

SOX10
MITF
PAX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.PMID 28893539Read ↗

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.Semantic proximity Read ↗

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.Semantic proximity Read ↗

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.Semantic proximity Read ↗

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype AnalysisSemantic proximity Read ↗

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.Semantic proximity Read ↗

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.Semantic proximity Read ↗

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.Semantic proximity Read ↗

A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IVSemantic proximity Read ↗

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.Semantic proximity Read ↗

Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.Semantic proximity Read ↗

Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.Semantic proximity Read ↗

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.