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Statements

Subject Item
n2:RIV%2F00216224%3A14310%2F09%3A00028625%21RIV10-MSM-14310___
rdf:type
skos:Concept n19:Vysledek
dcterms: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.
dcterms:title
Molecular pathology of the fibroblast growth factor family. Molecular pathology of the fibroblast growth factor family.
skos:prefLabel
Molecular pathology of the fibroblast growth factor family. Molecular pathology of the fibroblast growth factor family.
skos:notation
RIV/00216224:14310/09:00028625!RIV10-MSM-14310___
n4:aktivita
n8:P n8:Z
n4:aktivity
P(GA301/09/0587), Z(AV0Z50040507), Z(AV0Z50040702), Z(MSM0021622430)
n4:cisloPeriodika
9
n4:dodaniDat
n15:2010
n4:domaciTvurceVysledku
n9:5067847 n9:7240325 n9:8855803 n9:1706063
n4:druhVysledku
n11:J
n4:duvernostUdaju
n18:S
n4:entitaPredkladatele
n16:predkladatel
n4:idSjednocenehoVysledku
327240
n4:idVysledku
RIV/00216224:14310/09:00028625
n4:jazykVysledku
n10:eng
n4:klicovaSlova
fibroblast growth factor; FGF; disease; mutation; genetics; human
n4:klicoveSlovo
n5:disease n5:fibroblast%20growth%20factor n5:mutation n5:genetics n5:human n5:FGF
n4:kodStatuVydavatele
US - Spojené státy americké
n4:kontrolniKodProRIV
[D303A2554DFC]
n4:nazevZdroje
Human Mutation
n4:obor
n7:EB
n4:pocetDomacichTvurcuVysledku
4
n4:pocetTvurcuVysledku
5
n4:projekt
n14:GA301%2F09%2F0587
n4:rokUplatneniVysledku
n15:2009
n4:svazekPeriodika
30
n4:tvurceVysledku
Bryja, Vítězslav Kozubík, Alois Procházková, Jiřina Wilcox, William Krejčí, Pavel
n4:wos
000269675400001
n4:zamer
n12:AV0Z50040507 n12:AV0Z50040702 n12:MSM0021622430
s:issn
1059-7794
s:numberOfPages
11
n17:organizacniJednotka
14310