ArticleJournal of rare diseases research & treatment2017
Waardenburg Syndrome Expression and Penetrance.
Article in Journal of rare diseases research & treatment, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Genetics of Waardenburg Syndrome in Africa: A Systematic Review.International journal of molecular sciences · 2025Pooled it
- PAX3: A Driver of Normal Development and Disease.Biomolecules · 2026Review
- Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.Scientific reports · 2025Article
- Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series.Translational pediatrics · 2022Article
- Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.BMC medical genomics · 2021Article
- [Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation inLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.BMC pediatrics · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Through a combination of in silico research and reviews of previous work, mechanisms by which nonsense-mediated mRNA decay (NMD) affects the inheritance and expressivity of Waardenburg syndrome is realized. While expressivity and inheritance both relate to biochemical processes underlying a gene's function, this research explores how alternative splicing and premature termination codons (PTC's) within mRNAs mutated in the disease are either translated into deleterious proteins or decayed to minimize expression of altered proteins. Elucidation of splice variants coupled with NMD perpetuating the various symptoms and inheritance patterns of this disease represent novel findings. By investigating nonsense mutations that lie within and outside the NMD boundary of these transcripts we can evaluate the effects of protein truncation versus minimized protein expression on the variable expressivity found between Type I and Type III Waardenburg syndrome,
Indexed as
Identifiers
30854529PMC6404762W2934821657What 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.