ArticleGenes2021
Gene Mutations of the Three Ectodysplasin Pathway Key Players (
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.BMC medical genomics · 2025Pooled it
- Selective advantages, selective mismatches, chronic inflammation, obesity, and type 2 diabetes: a new hypothesis to explain the effects of natural selection on genetic variation at the ectodysplasin A receptor locus.BMJ open diabetes research & care · 2026Review
- Integrating biological aging into clinical practice: a review and path forward for precision longevity medicine.GeroScience · 2026Review
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- Delayed tooth eruption as an early clinical indicator of genetical tooth agenesis: A family-based study of cases with whole-exome sequencing.Journal of dental sciences · 2026Article
- Intrafamilial Phenotypic Variability and Dental Management of Ectodermal Dysplasia in Three Siblings: A Case Report.Case reports in dentistry · 2026Article
- Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.BMC oral health · 2025Article
- A novel variation inFrontiers in pediatrics · 2025Article
- Multi-omics and AI-driven advances in miRNA-mediated hair follicle regulation in cashmere goats.Frontiers in veterinary science · 2025Review
- Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.Frontiers in cell and developmental biology · 2025Article
- Critical Considerations in Calling Disease-CausingJournal of clinical medicine · 2024Article
- Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.Italian journal of pediatrics · 2024Review
- The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.Scientific reports · 2024Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.Frontiers in genetics · 2023Review
- Confirmation of a Phenotypic Entity forGenes · 2022Article
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 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and some glands, e.g., sweat glands. Molecular pathogenesis of ED involves mutations of genes encoding key proteins of major developmental pathways, including ectodysplasin (EDA) and wingless-type (WNT) pathways. The most common ED phenotype is hypohidrotic/anhidrotic ectodermal dysplasia (HED) featuring hypotrichosis, hypohidrosis/anhidrosis, and hypodontia. Molecular diagnosis is fundamental for disease management and emerging treatments. We used targeted next generation sequencing to study
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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.