Condition: Achondroplasia
rs121913105 in
FGFR3 gene and
Achondroplasia
PMID 10611230 2000 The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
PMID 12297284 2002 FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
PMID 7847369 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3.
PMID 8599935 1996 Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
PMID 8078586 1994 Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
PMID 7758520 1995 A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.