ArticlePLoS genetics2016
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 59 citations in OpenAlex.
- A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.Journal of medical case reports · 2026Review
- Case Report: Compound heterozygous variants inFrontiers in medicine · 2026Article
- A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.Molecular syndromology · 2025Article
- Genome-wide association studies of Alzheimer's disease and related disorders stratified by sex, onset age, and Apolipoprotein E genotype reveal novel risk loci in African Americans.Alzheimer's research & therapy · 2025Article
- Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study.Genes · 2025Article
- Potential radiosensitive germline biomarkers in the testes of wild mice after the Fukushima accident.FEBS open bio · 2025Article
- Developmental basis of natural tooth shape variation in cichlid fishes.Die Naturwissenschaften · 2025Article
- Novel compound heterozygous variants in thePediatric investigation · 2024Article
- Insights into trait-association of selection signatures and adaptive eQTL in indigenous African cattle.BMC genomics · 2024Article
- Comprehensive analysis of the expression profiles of mRNA, lncRNA, circRNA, and miRNA in primary hair follicles of coarse sheep fetal skin.BMC genomics · 2024Article
- Comprehensive analysis reveals TSPEAR as a prognostic biomarker in colorectal cancer.Journal of Cancer · 2024Article
- Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs.BMC genomics · 2023Article
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss.Nature communications · 2023Article
- Article
- Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.Advances in experimental medicine and biology · 2023Article
- The Genes Involved in Dentinogenesis.Organogenesis · 2022Article
- Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.Genes · 2022Article
- Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.Current osteoporosis reports · 2022Review
- Article
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.Human molecular genetics · 2022Article
Corrections and comments
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Authors and funding
24 authors at 6 institutions in 5 countries.
Funding
Abstract
Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, scalp hypotrichosis and hypodontia. Using whole exome sequencing, we identified 2 frameshift and 2 missense mutations in TSPEAR segregating with the disease phenotype in 3 families. TSPEAR encodes the thrombospondin-type laminin G domain and EAR repeats (TSPEAR) protein, whose function is poorly understood. TSPEAR knock-down resulted in altered expression of genes known to be regulated by NOTCH and to be involved in murine hair and tooth development. Pathway analysis confirmed that down-regulation of TSPEAR in keratinocytes is likely to affect Notch signaling. Accordingly, using a luciferase-based reporter assay, we showed that TSPEAR knock-down is associated with decreased Notch signaling. In addition, NOTCH1 protein expression was reduced in patient scalp skin. Moreover, TSPEAR silencing in mouse hair follicle organ cultures was found to induce apoptosis in follicular epithelial cells, resulting in decreased hair bulb diameter. Collectively, these observations indicate that TSPEAR plays a critical, previously unrecognized role in human tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway.
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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.