J 2009

Molecular pathology of the fibroblast growth factor family.

KREJČÍ, Pavel, Jiřina PROCHÁZKOVÁ, Vítězslav BRYJA, Alois KOZUBÍK, William WILCOX et. al.

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10603 Genetics and heredity

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 6.887

RIV identification code

RIV/00216224:14310/09:00028625

Organization unit

Faculty of Science

DOI

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
Změněno: 3/6/2021 13:38, Mgr. Michal Petr

Abstract

ORIG CZ

V originále

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.

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