About: Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

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

About: Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) 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	Background: Insulin gene (INS) mutations have recently been described as a common cause of permanent neonatal diabetes (PNDM) and a rare cause of diabetes diagnosed in childhood or adulthood. Methods: INS was sequenced in 116 maturity-onset diabetes of the young (MODYX) patients (n = 48 Danish and n = 68 Czech), 83 patients with gestational diabetes mellitus (GDM), 34 type 1 diabetic patients screened negative for glutamic acid decarboxylase (GAD), and 96 glucose tolerant individuals. The control group was randomly selected from the population-based sampled Inter99 study. Results: One novel heterozygous mutation c. 17G>A, R6H, was identified in the pre-proinsulin gene (INS) in a Danish MODYX family. The proband was diagnosed at 20 years of age with mild diabetes and treated with diet and oral hypoglycaemic agent. Two other family members who carried the INS R6H were diagnosed with diabetes when 51 years old and with GDM when 27 years old, respectively. A fourth mutation carrier had normal glucose t Background: Insulin gene (INS) mutations have recently been described as a common cause of permanent neonatal diabetes (PNDM) and a rare cause of diabetes diagnosed in childhood or adulthood. Methods: INS was sequenced in 116 maturity-onset diabetes of the young (MODYX) patients (n = 48 Danish and n = 68 Czech), 83 patients with gestational diabetes mellitus (GDM), 34 type 1 diabetic patients screened negative for glutamic acid decarboxylase (GAD), and 96 glucose tolerant individuals. The control group was randomly selected from the population-based sampled Inter99 study. Results: One novel heterozygous mutation c. 17G>A, R6H, was identified in the pre-proinsulin gene (INS) in a Danish MODYX family. The proband was diagnosed at 20 years of age with mild diabetes and treated with diet and oral hypoglycaemic agent. Two other family members who carried the INS R6H were diagnosed with diabetes when 51 years old and with GDM when 27 years old, respectively. A fourth mutation carrier had normal glucose t (en)
Title	Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) (en)
skos:prefLabel	Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) (en)
skos:notation	RIV/00064203:_____/10:6181!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I P V
http://linked.open...avai/riv/aktivity	I, P(7F09015), V
http://linked.open...iv/cisloPeriodika	42
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Lebl, Jan Cinek, Ondřej Průhová, Štěpánka Obermannová, Barbora
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	260074
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6181
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	insulin gene-mutations; children; MODY; MODY X (en)
http://linked.open.../riv/klicoveSlovo	MODY children MODY X insulin gene-mutations
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[2A782E981291]
http://linked.open...i/riv/nazevZdroje	BMC Medical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (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 Lebl, Jan Hansen, T. Pedersen, O. Průhová, Štěpánka Obermannová, Barbora Boesgaard, TW Pisinger, C. Andersson, E. A. Barbetti, F. Bergholdt, R. Damm, P. Lauenborg, J. Pociot, F.
http://linked.open...ain/vavai/riv/wos	000276394100001
issn	1471-2350
number of pages	4 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

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, 112 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software