ArticleAmerican journal of human genetics2007
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 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
100 citing papers in PubMed, 248 citations in OpenAlex.
- Wnt Signaling Across Adult Skin Mini-Organs: Interfollicular Epidermis, Hair Follicle, and Nail-Implications for Disease and Regeneration.International journal of molecular sciences · 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
- A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.BMC pregnancy and childbirth · 2025Article
- The development of hair follicles and nail.Developmental biology · 2024Review
- wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosis.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Article
- Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.BMC oral health · 2024Article
- Article
- Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.Dentistry journal · 2023Review
- Wnt signaling: Essential roles in osteoblast differentiation, bone metabolism and therapeutic implications for bone and skeletal disorders.Genes & diseases · 2023Review
- Genetic/Protein Association of Atopic Dermatitis and Tooth Agenesis.International journal of molecular sciences · 2023Review
- Dose Dependence Effect in BiallelicDiagnostics (Basel, Switzerland) · 2022Article
- Overactive Wnt5a signaling disrupts hair follicle polarity during mouse skin development.Development (Cambridge, England) · 2022Article
- NovelJournal of personalized medicine · 2022Article
- Deletion of Wnt10a Is Implicated in Hippocampal Neurodegeneration in Mice.Biomedicines · 2022Article
- Confirmation of a Phenotypic Entity forGenes · 2022Article
- Review
- Deficiency of Wnt10a causes female infertility via the β-catenin/Cyp19a1 pathway in mice.International journal of medical sciences · 2022Article
- Article
- A genetic model for the secretory stage of dental enamel formation.Journal of structural biology · 2021Review
- A novel LRP6 variant in a Japanese family with oligodontia.Human genome variation · 2021Article
40 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.
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.