Molecular pathology of the fibroblast growth factor family.

KREJČÍ, Pavel, Jiřina PROCHÁZKOVÁ, Vítězslav BRYJA, Alois KOZUBÍK and William WILCOX. Molecular pathology of the fibroblast growth factor family. Human Mutation. 2009, vol. 30, No 9, p. 1245-55, 11 pp. ISSN 1059-7794. Available from: https://dx.doi.org/10.1002/humu.21067.

Basic information

• Original name: Molecular pathology of the fibroblast growth factor family.
• Name in Czech: Molekularni patologie fibroblastovych růstových faktorů
• Authors: KREJČÍ, Pavel (203 Czech Republic, guarantor), Jiřina PROCHÁZKOVÁ (203 Czech Republic, belonging to the institution), Vítězslav BRYJA (203 Czech Republic, belonging to the institution), Alois KOZUBÍK (203 Czech Republic, belonging to the institution) and William WILCOX (840 United States of America).
• Edition: Human Mutation, 2009, 1059-7794.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 10603 Genetics and heredity
• Country of publisher: United States of America
• Confidentiality degree: is not subject to a state or trade secret
• WWW: URL
• Impact factor: Impact factor: 6.887
• RIV identification code: RIV/00216224:14310/09:00028625
• Organization unit: Faculty of Science
• Doi: http://dx.doi.org/10.1002/humu.21067
• UT WoS: 000269675400001
• Keywords (in Czech): fibroblastovy rustovy faktor, FGF, nemoc, mutace, genetika, clovek
• Keywords in English: fibroblast growth factor; FGF; disease; mutation; genetics; human

Abstract

The human fibroblast growth factor (FGF) family contains 22 proteins that regulate a plethora of physiological processes in both developing and adult organism. The mutations in the FGF genes were not known to play role in human disease until the year 2000, when mutations in FGF23 were found to cause hypophosphatemic rickets. Nine years later, seven FGFs have been associated with human disorders. These include FGF3 in Michel aplasia; FGF8 in cleft lip/palate and in hypogonadotropic hypogonadism; FGF9 in carcinoma; FGF10 in the lacrimal/salivary glands aplasia, and lacrimo-auriculo-dento-digital syndrome; FGF14 in spinocerebellar ataxia; FGF20 in Parkinson disease; and FGF23 in tumoral calcinosis and hypophosphatemic rickets. The heterogeneity in the functional consequences of FGF mutations, the modes of inheritance, pattern of involved tissues/organs, and effects in different developmental stages provide fascinating insights into the physiology of the FGF signaling system. We review the current knowledge about the molecular pathology of the FGF family.

Abstract (in Czech)

Rodina fibroblastových růstových faktorů (FGF) má u člověka 22 členů a reguluje široké spektrum fyziologických procesu, jak během vývoje, tak v dospělém organismu. V tomto review se pokoušíme shrnout veškerou dostupnou literaturu, která implikuje členy FGF rodiny v patogenezi lidských chorob.

Links

• GA301/09/0587, research and development project: Name: Nové dráhy FGFR3 signalingu v achondroplázii

Investor: Czech Science Foundation, Novel pathway of FGFR3 signaling in achondroplasia

• MSM0021622430, plan (intention): Name: Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie

Investor: Ministry of Education, Youth and Sports of the CR, Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies

• 1658, interní kód MU: Name: EMBO Young Investigator Programme (Acronym: EMBO)

Investor: EMBO (European Molecular Biology Organization), EMBO Young Investigator Programme