About: Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations 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)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Glucokinase diabetes (GCK-MODY, MODY2) is caused by heterozygous mutations in the gene GCK. We investigated the current prevalence of GCK mutations in a cohort of 140 Czech patients with typical clinical appearance of GCK-MODY. We also reanalyzed the negative results obtained previously by dHPLC screening. A mutation in GCK was identified in 103 probands (74%). Several mutations were detected in multiple families: p.Glu40Lys, p.Gly318Arg, p.Leu315His and p.Val33Ala. Direct sequencing detected a GCK mutations in 9 of 20 previously dHPLC-negative samples; the sensitivity of the dHPLC screening was 84%. The study confirmed the effectiveness of carefully applied clinical criteria prior to genetic testing. In the Czech MODY registry, GCK-MODY represents the biggest subgroup (35%). We report several prevalent GCK mutations with a likely founder. Moreover, our results provide ground for a possible recommendation to reinspect all negative results previously obtained by dHPLC screening. Glucokinase diabetes (GCK-MODY, MODY2) is caused by heterozygous mutations in the gene GCK. We investigated the current prevalence of GCK mutations in a cohort of 140 Czech patients with typical clinical appearance of GCK-MODY. We also reanalyzed the negative results obtained previously by dHPLC screening. A mutation in GCK was identified in 103 probands (74%). Several mutations were detected in multiple families: p.Glu40Lys, p.Gly318Arg, p.Leu315His and p.Val33Ala. Direct sequencing detected a GCK mutations in 9 of 20 previously dHPLC-negative samples; the sensitivity of the dHPLC screening was 84%. The study confirmed the effectiveness of carefully applied clinical criteria prior to genetic testing. In the Czech MODY registry, GCK-MODY represents the biggest subgroup (35%). We report several prevalent GCK mutations with a likely founder. Moreover, our results provide ground for a possible recommendation to reinspect all negative results previously obtained by dHPLC screening. (en)
Title	Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations (en)
skos:prefLabel	Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations (en)
skos:notation	RIV/00064203:_____/10:6711!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	N P Z
http://linked.open...avai/riv/aktivity	N, P(7F09015), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	8
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Šumník, Zdeněk Lebl, Jan Cinek, Ondřej Koloušková, Stanislava Průhová, Štěpánka Dušátková, Petra
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	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	260842
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6711
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	dHPLC,diabetes, efekt zakladatele, GCK-MODY, glukokináza; dHPLC, diabetes, founder effect, GCK-MODY, glucokinase (en)
http://linked.open.../riv/klicoveSlovo	GCK-MODY founder effect diabetes dHPLC efekt zakladatele glucokinase glukokináza
http://linked.open...odStatuVydavatele	DK - Dánské království
http://linked.open...ontrolniKodProRIV	[7324D5565D7D]
http://linked.open...i/riv/nazevZdroje	Pediatric Diabetes
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Infections in the pathogenesis of type 1 diabetes: The MIDIA study
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	11
http://linked.open...iv/tvurceVysledku	Cinek, Ondřej Koloušková, Stanislava Lebl, Jan Šumník, Zdeněk Dušátková, Petra Průhová, Štěpánka Hansen, Torben Pedersen, Oluf
http://linked.open...ain/vavai/riv/wos	000284854900004
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1399-543X
number of pages	7 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 77 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software