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[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
Ned Tijdschr Geneeskd. 2002 Jan 12; 146(2):63-6.NT

Abstract

One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascade of signals that influence cell division and differentiation. FGFR2 mutations have been found in the Apert, Crouzon and Pfeiffer craniosynostosis syndromes. Most mutations are gain of function mutations, inducing ligand-independent receptor activation or altered ligand binding. With the exception of Apert syndrome, there is no clear genotype-phenotype correlation. Many different mutations have been found in Pfeiffer and Crouzon syndrome, but all of the mutations occur in the same extracellular region of the receptor. Identical mutations have been found in Pfeiffer and Crouzon syndrome. So within one family, both Crouzon and Pfeiffer syndrome may occur. Mutations in other FGFR-genes have also been found in craniosynostosis syndromes.

Authors+Show Affiliations

Universitair Medisch Centrum St Radboud, afd. Antropogenetica 417, Postbus 9101, 6500 HB Nijmegen. c.vanravenswaay@antrg.azn.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

dut

PubMed ID

11820058

Citation

van Ravenswaaij-Arts, C M A., et al. "[From Gene to Disease; Craniosynostosis Syndromes Due to FGFR2-mutation]." Nederlands Tijdschrift Voor Geneeskunde, vol. 146, no. 2, 2002, pp. 63-6.
van Ravenswaaij-Arts CM, van den Ouweland AM, Hoogeboom AJ, et al. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]. Ned Tijdschr Geneeskd. 2002;146(2):63-6.
van Ravenswaaij-Arts, C. M., van den Ouweland, A. M., Hoogeboom, A. J., Herbergs, J., & Pals, G. (2002). [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]. Nederlands Tijdschrift Voor Geneeskunde, 146(2), 63-6.
van Ravenswaaij-Arts CM, et al. [From Gene to Disease; Craniosynostosis Syndromes Due to FGFR2-mutation]. Ned Tijdschr Geneeskd. 2002 Jan 12;146(2):63-6. PubMed PMID: 11820058.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]. AU - van Ravenswaaij-Arts,C M A, AU - van den Ouweland,A M W, AU - Hoogeboom,A J M, AU - Herbergs,J, AU - Pals,G, PY - 2002/2/1/pubmed PY - 2002/2/23/medline PY - 2002/2/1/entrez SP - 63 EP - 6 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 146 IS - 2 N2 - One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascade of signals that influence cell division and differentiation. FGFR2 mutations have been found in the Apert, Crouzon and Pfeiffer craniosynostosis syndromes. Most mutations are gain of function mutations, inducing ligand-independent receptor activation or altered ligand binding. With the exception of Apert syndrome, there is no clear genotype-phenotype correlation. Many different mutations have been found in Pfeiffer and Crouzon syndrome, but all of the mutations occur in the same extracellular region of the receptor. Identical mutations have been found in Pfeiffer and Crouzon syndrome. So within one family, both Crouzon and Pfeiffer syndrome may occur. Mutations in other FGFR-genes have also been found in craniosynostosis syndromes. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/11820058/[From_gene_to_disease L2 - http://www.diseaseinfosearch.org/result/1982 DB - PRIME DP - Unbound Medicine ER -