ArticleHuman genetics2012
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 43 citations in OpenAlex.
- Targeting the melanocytes of the inner ear: A comparison of different CreER lines.Developmental biology · 2026Article
- Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.Translational psychiatry · 2025Article
- A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.Molecular biology reports · 2024Article
- Melanin Biopolymers in Pharmacology and Medicine-Skin Pigmentation Disorders, Implications for Drug Action, Adverse Effects and Therapy.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Genetically modified pigs: Emerging animal models for hereditary hearing loss.Zoological research · 2024Review
- Translocations and Gene Fusions in Sinonasal Malignancies.Current oncology reports · 2023Review
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.Nucleic acids research · 2021Article
- Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2021Article
- Article
- ARMC Subfamily: Structures, Functions, Evolutions, Interactions, and Diseases.Frontiers in molecular biosciences · 2021Review
- A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With aFrontiers in cell and developmental biology · 2021Article
- Chemical-induced craniofacial anomalies caused by disruption of neural crest cell development in a zebrafish model.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.Molecular genetics & genomic medicine · 2020Article
- NovelFrontiers in genetics · 2020Article
- A Novel Spontaneous Mutation of theNeural plasticity · 2020Article
- Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.Neural plasticity · 2019Article
- Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.Journal of human genetics · 2018Article
- ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.Human genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 (MITF), a critical transcription factor for melanocyte development. Mutations of PAX3 are associated with WS1 and WS3, while mutations of SOX10 cause WS2 and WS4. Recently, we identified some novel WS-associated mutations in PAX3 and SOX10 in a cohort of Chinese WS patients. Here, we further identified an E248fsX30 SOX10 mutation in a family of WS2. We analyzed the subcellular distribution, expression and in vitro activity of two PAX3 mutations (p.H80D, p.H186fsX5) and four SOX10 mutations (p.E248fsX30, p.G37fsX58, p.G38fsX69 and p.R43X). Except H80D PAX3, which retained partial activity, the other mutants were unable to activate MITF promoter. The H80D PAX3 and E248fsX30 SOX10 were localized in the nucleus as wild type (WT) proteins, whereas the other mutant proteins were distributed in both cytoplasm and nucleus. Furthermore, E248fsX30 SOX10 protein retained the DNA-binding activity and showed dominant-negative effect on WT SOX10. However, E248fsX30 SOX10 protein seems to decay faster than the WT one, which may underlie the mild WS2 phenotype caused by this mutation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.