About: Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations

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About: Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Glucokinase (GCK) plays a key role in glucose metabolism. GCK mutations are known as a pathogenic cause of maturity-onset diabetes of the young type 2 (MODY2). These mutations are also found in gestational diabetics. The aim of our study was to assess the variability of the GCK gene in the Czech diabetic and control populations. We screened all 10 exons specific for the pancreatic isoform of glucokinase (1a and 2-10) including the intron flanking regions in 722 subjects (in 12 patients with an unrecognised type of MODY and their 10 family members, 313 patients with diabetes mellitus type 2 (DM2), 141 gestational diabetics (GDM), 130 healthy offspring of diabetic parents, and 116 healthy controls without family history of DM2). In two MODY families we identified two mutations in exon 2 of the GCK gene: a novel mutation Val33Ala and the previously described mutation Glu40Lys. In other subgroups (excluding MODY families) we detected only intronic variants and previously described polymorphisms in exons 6 Glucokinase (GCK) plays a key role in glucose metabolism. GCK mutations are known as a pathogenic cause of maturity-onset diabetes of the young type 2 (MODY2). These mutations are also found in gestational diabetics. The aim of our study was to assess the variability of the GCK gene in the Czech diabetic and control populations. We screened all 10 exons specific for the pancreatic isoform of glucokinase (1a and 2-10) including the intron flanking regions in 722 subjects (in 12 patients with an unrecognised type of MODY and their 10 family members, 313 patients with diabetes mellitus type 2 (DM2), 141 gestational diabetics (GDM), 130 healthy offspring of diabetic parents, and 116 healthy controls without family history of DM2). In two MODY families we identified two mutations in exon 2 of the GCK gene: a novel mutation Val33Ala and the previously described mutation Glu40Lys. In other subgroups (excluding MODY families) we detected only intronic variants and previously described polymorphisms in exons 6 (en)
Title	Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations (en)
skos:prefLabel	Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations (en)
skos:notation	RIV/00216208:11120/08:00002134!RIV11-MSM-11120___
http://linked.open...avai/riv/aktivita	P V
http://linked.open...avai/riv/aktivity	P(NR7809), V
http://linked.open...iv/cisloPeriodika	Suppl. 1
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Andělová, Kateřina
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	Univerzita Karlova v Praze / 3. lékařská fakulta
http://linked.open...dnocenehoVysledku	393916
http://linked.open...ai/riv/idVysledku	RIV/00216208:11120/08:00002134
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	glucokinase (GCK); MODY2; mutation; polymorphism; gestational diabetes; diabetes mellitus type 2 (en)
http://linked.open.../riv/klicoveSlovo	polymorphism gestational diabetes diabetes mellitus type 2 mutation MODY2 glucokinase (GCK)
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[1498EC10621D]
http://linked.open...i/riv/nazevZdroje	Physiological Research
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Candidate genes and their roles in the pathogenesis of diabetes mellitus type 2 and gestational diabetes
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	57
http://linked.open...iv/tvurceVysledku	Andělová, Kateřina Lukášová, P.
http://linked.open...ain/vavai/riv/wos	000256403500011
issn	0862-8408
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11120
is http://linked.open...avai/riv/vysledek of	Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations

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