ArticleEuropean journal of pediatrics1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
Article in European journal of pediatrics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 105 citations in OpenAlex.
- Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.BMC medical genomics · 2023Article
- Targeted gene correction and functional recovery in achondroplasia patient-derived iPSCs.Stem cell research & therapy · 2021Article
- 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
- Structure, activation and dysregulation of fibroblast growth factor receptor kinases: perspectives for clinical targeting.Biochemical Society transactions · 2018Review
- Achondroplasia: Development, pathogenesis, and therapy.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report.Experimental and therapeutic medicine · 2015Article
- 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
- The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.Journal of human genetics · 2007Article
- FGF signaling in the developing endochondral skeleton.Cytokine & growth factor reviews · 2005Review
- Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.The Journal of clinical investigation · 1999Article
- A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.American journal of human genetics · 1999Article
- 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
- Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
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