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 Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

Human genetics - 1 Mar 2012

Zhang Hua, Chen Hongsheng, Luo Hunjin, An Jing, Sun Lin, Mei Lingyun, He Chufeng, Jiang Lu, Jiang Wen, Xia Kun, Li Jia-Da, Feng Yong

Abstract excerpt

Waardenburg syndrome (WS) is an auditory-pigmentary disorder resulting from melanocyte defects, with 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. PAX3 and SOX10 are two transcription factors that can activate the expression of microphthalmia-associated transcription factor...

Read the complete abstract on PubMed

Topics

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

Share to Gene Expression
Share to Paired Box Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to PAX3 Transcription Factor

Share to Pedigree

Share to SOXE Transcription Factors

Share to Tissue Distribution

Share to Transfection

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 21965087
DOI: 10.1007/s00439-011-1098-2

Genes

SOX10
PAX3
MITF

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 Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.PMID 21965087Read ↗

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

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome 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 a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.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 ↗

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

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.Semantic proximity Read ↗

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.Semantic proximity Read ↗

Identification Functional Analysis of A Novel Mutation of the PAX3 Gene in A Chinese Family Associated with Waardenburg Syndrome Type I Running title: Novel PAX3 Mutation in Waardenburg Syndrome Type ISemantic proximity Read ↗

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

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

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.Semantic proximity Read ↗

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