About: Molecular pathology of the fibroblast growth factor family.

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About: Molecular pathology of the fibroblast growth factor family. Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. 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. (en)
Title	Molecular pathology of the fibroblast growth factor family. Molecular pathology of the fibroblast growth factor family. (en)
skos:prefLabel	Molecular pathology of the fibroblast growth factor family. Molecular pathology of the fibroblast growth factor family. (en)
skos:notation	RIV/00216224:14310/09:00028625!RIV10-MSM-14310___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(GA301/09/0587), Z(AV0Z50040507), Z(AV0Z50040702), Z(MSM0021622430)
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Krejčí, Pavel Kozubík, Alois Bryja, Vítězslav Procházková, Jiřina
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	327240
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/09:00028625
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	fibroblast growth factor; FGF; disease; mutation; genetics; human (en)
http://linked.open.../riv/klicoveSlovo	fibroblast growth factor disease genetics human FGF mutation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[D303A2554DFC]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Novel pathways of FGFR3 signaling in achondroplasia
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	30
http://linked.open...iv/tvurceVysledku	Bryja, Vítězslav Kozubík, Alois Krejčí, Pavel Procházková, Jiřina Wilcox, William
http://linked.open...ain/vavai/riv/wos	000269675400001
http://linked.open...n/vavai/riv/zamer	Biophysics of dynamic structures and functions of biological systems Genome and epigenome: 1D and 3D Structure, Dynamics, Interactions with Proteins and Functions Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies
issn	1059-7794
number of pages	11 (xsd:int)
http://localhost/t...ganizacniJednotka	14310

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