ArticleClinical genetics2019
Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 56 citations in OpenAlex.
- Amelogenin Phosphorylation Affects Key Regulatory Genes in the Enamel Organ.Calcified tissue international · 2026Review
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- Antisense oligonucleotides-mediated rescue of theJournal of dental sciences · 2026Article
- The Interplay of Immune Response and Dental Enamel Formation in Health and Sickness.Advances in experimental medicine and biology · 2026Review
- Ectodysplasin overexpression reveals spatiotemporally dynamic tooth formation competency in stickleback and zebrafish.Development (Cambridge, England) · 2025Article
- [Frameshift mutation inBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.PloS one · 2025Article
- Immune-related RELT drives clear cell renal cell carcinoma progression through JAK/STAT signaling pathway activation.Frontiers in immunology · 2025Article
- ADAM10 Expression by Ameloblasts Is Essential for Proper Enamel Formation.International journal of molecular sciences · 2024Article
- Article
- A novelJournal of dental sciences · 2024Article
- Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.European journal of human genetics : EJHG · 2023Article
- Phenotypic variability in LAMA3-associated amelogenesis imperfecta.Oral diseases · 2023Article
- The RELT Family of Proteins: An Increasing Awareness of Their Importance for Cancer, the Immune System, and Development.Biomedicines · 2023Review
- Organoids from mouse molar and incisor as new tools to study tooth-specific biology and development.Stem cell reports · 2023Article
- Review
- NovelJournal of personalized medicine · 2023Article
- Delivering co-stimulatory tumor necrosis factor receptor agonism for cancer immunotherapy: past, current and future perspectives.Frontiers in immunology · 2023Review
- Article
- Enamel defects in Acp4Scientific reports · 2022Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 4 countries.
Funding
Abstract
Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild-type mouse molars and incisors showed specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts. Relt
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Registered trials
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