ArticleJournal of human genetics2016
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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.
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Who cites it
19 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- 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
- Skin Development and Disease: A Molecular Perspective.Current issues in molecular biology · 2024Review
- The genome of African manateeiScience · 2024Article
- Spatial and Temporal Expression of Ectodysplasin-A Signaling Pathway Members During Mandibular Condylar Development in Postnatal Mice.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2023Article
- Ectodysplasin Signaling through XEDAR Is Required for Mammary Gland Morphogenesis.The Journal of investigative dermatology · 2023Article
- Hypohidrotic ectodermal dysplasia: a case report.Annals of medicine and surgery (2012) · 2023Article
- Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.Genes · 2022Article
- Article
- Functional and clinical analysis of fiveFrontiers in genetics · 2022Article
- Article
- Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia.Orphanet journal of rare diseases · 2021Article
- No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.Orphanet journal of rare diseases · 2021Article
- Correction of Vertebral Bone Development in Ectodysplasin A1-Deficient Mice by Prenatal Treatment With a Replacement Protein.Frontiers in genetics · 2021Article
- Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.Orphanet journal of rare diseases · 2020Article
- PathogenicFrontiers in genetics · 2020Article
- EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.Orphanet journal of rare diseases · 2019Article
- A case of anhidrotic ectodermal dysplasia presenting with pyrexia, atopic eczema, and food allergy.Asia Pacific allergy · 2019Article
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a common signaling pathway. Single-nucleotide polymorphisms (SNPs) affecting any gene product in this pathway may cause inter- and intrafamilial variability. In a cohort of 124 HED patients, genotyping was attempted by Sanger sequencing of EDA, EDA1R, EDARADD, TRAF6 and EDA2R and by multiplex ligation-dependent probe amplification (MLPA). Pathogenic mutations were detected in 101 subjects with HED, affecting EDA, EDA1R and EDARADD in 88%, 9% and 3% of the cases, respectively, and including 23 novel mutations. MLPA revealed exon copy-number variations in five unrelated HED families (two deletions and three duplications). In four of them, the genomic breakpoints could be localized. The EDA1R variant rs3827760 (p.Val370Ala), known to lessen HED-related symptoms, was found only in a single individual of Asian origin, but in none of the 123 European patients. Another SNP, rs1385699 (p.Arg57Lys) in EDA2R, however, appeared to have some impact on the hair phenotype of European subjects with EDA mutations.
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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.