ArticleHuman genetics1995
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.
Article in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 65 citations in OpenAlex.
- Review of published 467 achondroplasia patients: clinical and mutational spectrum.Orphanet journal of rare diseases · 2024Review
- Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.BMC medical genomics · 2023Article
- Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.American journal of medical genetics. Part A · 2021Article
- Achondroplasia: a comprehensive clinical review.Orphanet journal of rare diseases · 2019Review
- Advances in research on and diagnosis and treatment of achondroplasia in China.Intractable & rare diseases research · 2013Review
- Molecular genesis of non-muscle-invasive urothelial carcinoma (NMIUC).Expert reviews in molecular medicine · 2010Review
- Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.Indian journal of pediatrics · 2009Article
- The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.Journal of human genetics · 2007Article
- Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.Biochemistry · 2006Review
- Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.Journal of human genetics · 2006Review
- FGF signaling in the developing endochondral skeleton.Cytokine & growth factor reviews · 2005Review
- Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.American journal of human genetics · 2005Article
- Somatic mutations of fibroblast growth factor receptor 3 (FGFR3) are uncommon in carcinomas of the uterine cervix.Oncogene · 2000Article
- Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene.Canadian journal of veterinary research = Revue canadienne de recherche veterinaire · 2000Article
- Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.Molecular and cellular biology · 1997Article
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achondroplasia, the most common cause of chondrodysplasia in man, is characterized by short-limbed dwarfism, macrocephaly, and dysplasia of metaphyses of the tubular bones. Recently, mutations in the gene encoding fibroblast growth factor receptor-3 (FGFR-3) have been found in patients with achondroplasia. All mutations so far reported had occurred at codon 380, resulting in the substitution of an arginine for a glycine in the transmembrane domain of the predicted protein. We have examined the transmembrane domain of the FGFR-3 gene in seven Japanese patients with achondroplasia. Of the six cases that were sporadic, all carried a mutation in codon 380; the single familial case bore a novel mutation of a G-to-T transition at codon 375, which resulted in substitution of a cysteine for a glycine.
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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.