Condition: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)


rs121913116 in FGFR3 gene and CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

PMID 7493034 1995 Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

PMID 17935505 2007 The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation.

PMID 18976668 2008 Pathogenic activation of receptor tyrosine kinases in mammalian membranes.

PMID 9857065 1998 Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation.

PMID 21536014 2011 The A391E mutation enhances FGFR3 activation in the absence of ligand.

PMID 20199409 2010 Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN.