نتایج جستجو برای: onset diabetes of the young mody

تعداد نتایج: 22867488  

2010
Torben Hansen Hans Eiberg Mathias Rouard Martine Vaxillaire Jens J. Hoist Katrine Almind S0ren M. Echwald Lars Hansen Graeme I. Bell Oluf Pedersen

One form of maturity-onset diabetes of the young (M0DY3) results from mutations in the hepatocyte nuclear factor (HNF)-la gene, located on chromosome 12q24.2. The primary objective of the present study was to search for genetic variation in the HNF-la gene in nine nonrelated Danish Caucasian subjects with MODY. Direct sequencing of the coding region and intron-exon boundaries of the HNF-la gene...

Journal: :Diabetes 1997
P Boutin J C Chèvre E H Hani R Gomis V C Pardini P J Guillausseau M Vaxillaire G Velho P Froguel

Maturity-onset diabetes of the young (MODY) is a form of NIDDM characterized by an early age of onset and autosomal-dominant inheritance (1). So far, three MODY-causing genes have been identified; namely, the hepatocyte nuclear factor4a (HNF-4a)/M0DYl on chromosome 20q, the glucokinase/M0DY2 on chromosome 7p, and the HNFla/M0DY3 on chromosome 12 q (2-4). The identification of the MODY genes has...

2013
Stepanka Pruhova Petra Dusatkova David Neumann Erik Hollay Ondrej Cinek Jan Lebl Zdenek Sumnik

OBJECTIVE Hepatocyte nuclear factor-1A maturity-onset diabetes of the young (HNF1A-MODY) is a monogenic form of diabetes caused by heterozygous mutations in HNF1A. Currently, a history of diabetic ketoacidosis (DKA) is an exclusion criterion for genetic testing for MODY. HISTORY AND EXAMINATION In this article, we describe two unrelated patients aged 17 and 24 years with severe DKA developed ...

Journal: :Diabetes Care 2008
Jan Skupien Sylwia Gorczynska-Kosiorz Tomasz Klupa Krzysztof Wanic Eric A. Button Jacek Sieradzki Maciej T. Malecki

OBJECTIVE 1,5-anhydroglucitol (1,5-AG) is a short-term marker of metabolic control in diabetes. Its renal loss is stimulated in hyperglycemic conditions by glycosuria, which results in a lowered plasma concentration. As a low renal threshold for glucose has been described in hepatocyte nuclear factor-1alpha (HNF-1alpha) maturity-onset diabetes of the young (MODY), the 1,5-AG level may be altere...

2011
Francesca Semplici Martine Vaxillaire Sarah Fogarty Meriem Semache Amélie Bonnefond Ghislaine Fontés Julien Philippe Gargi Meur Frederique Diraison Richard B. Sessions Jared Rutter Vincent Poitout Philippe Froguel Guy A. Rutter

PAS kinase (PASK) is a glucose-regulated protein kinase involved in the control of pancreatic islet hormone release and insulin sensitivity. We aimed here to identify mutations in the PASK gene that may be associated with young-onset diabetes in humans. We screened 18 diabetic probands with unelucidated maturity-onset diabetes of the young (MODY). We identified two rare nonsynonymous mutations ...

2013
Shahab Noorian Fatemeh Sayarifard Elham Farhadi Fabrizio Barbetti Nima Rezaei

BACKGROUND Maturity onset diabetes of the young type 2 (MODY) is an inherited disorder due to mutations in glucokinase (GCK) gene, which lead to mild fasting hyperglycemia. CASE PRESENTATION Herein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 (c.101...

Journal: :Diabetic medicine : a journal of the British Diabetic Association 2015
J R Flack G P Ross N W Cheung

AIM To determine if the previously published clinical criteria for identifying glucokinase monogenic diabetes [GCK gene mutation in maturity-onset diabetes of the young (GCK-MODY)], an elevated antenatal fasting blood glucose of 5.5-8.0 mmol/l, an increment of < 4.6 mmol/l at 2 h in an oral glucose tolerance test and slim are applicable in a large multi-ethnic cohort of women with gestational d...

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