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Statements

Subject Item
n2:RIV%2F00216208%3A11120%2F08%3A00002134%21RIV11-MSM-11120___
rdf:type
n3:Vysledek skos:Concept
dcterms: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
dcterms: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
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
skos:notation
RIV/00216208:11120/08:00002134!RIV11-MSM-11120___
n4:aktivita
n7:P n7:V
n4:aktivity
P(NR7809), V
n4:cisloPeriodika
Suppl. 1
n4:dodaniDat
n13:2011
n4:domaciTvurceVysledku
n16:2318784
n4:druhVysledku
n11:J
n4:duvernostUdaju
n15:S
n4:entitaPredkladatele
n8:predkladatel
n4:idSjednocenehoVysledku
393916
n4:idVysledku
RIV/00216208:11120/08:00002134
n4:jazykVysledku
n17:eng
n4:klicovaSlova
glucokinase (GCK); MODY2; mutation; polymorphism; gestational diabetes; diabetes mellitus type 2
n4:klicoveSlovo
n6:mutation n6:MODY2 n6:gestational%20diabetes n6:glucokinase%20%28GCK%29 n6:diabetes%20mellitus%20type%202 n6:polymorphism
n4:kodStatuVydavatele
CZ - Česká republika
n4:kontrolniKodProRIV
[1498EC10621D]
n4:nazevZdroje
Physiological Research
n4:obor
n18:FB
n4:pocetDomacichTvurcuVysledku
1
n4:pocetTvurcuVysledku
6
n4:projekt
n5:NR7809
n4:rokUplatneniVysledku
n13:2008
n4:svazekPeriodika
57
n4:tvurceVysledku
Lukášová, P. Andělová, Kateřina
n4:wos
000256403500011
s:issn
0862-8408
s:numberOfPages
10
n14:organizacniJednotka
11120