نتایج جستجو برای: mody

تعداد نتایج: 686  

Journal: :Advances in Cell Biology 2023

Maturity-onset diabetes of the young (MODY) is a monogenic disorder with autosomal dominant inheritance. MODY rarely diagnosed form diabetes, its incidence, depending on population, estimated at 1-5% children diabetes. currently includes 14 forms different etiology. Each subtypes conditioned by mutation in one identified genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK...

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...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2012
Lílian A Caetano Alexander A L Jorge Alexsandra C Malaquias Ericka B Trarbach Márcia S Queiroz Márcia Nery Milena G Teles

Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode of inheritance, early onset of hyperglycemia, and defects of insulin secretion. MODY subtypes described present genetic, metabolic, and clinical differences. MODY 2 is characterized by mild asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. Hence, precise diagnosis of MODY ...

2014
Jalal Taneera Petter Storm Leif Groop

Although several molecular pathways have been linked to type 2 diabetes (T2D) pathogenesis, it is uncertain which pathway has the most implication on the disease. Changes in the expression of an entire pathway might be more important for disease pathogenesis than changes in the expression of individual genes. To identify the molecular alterations in T2D, DNA microarrays of human pancreatic isle...

Journal: :Diabetes 2001
L del Bosque-Plata J Lin Y Horikawa P E Schwarz N J Cox N Iwasaki M Ogata Y Iwamoto M S German G I Bell

Mutations in transcription factors that play a role in the development of the endocrine pancreas, such as insulin promoter factor-1 and NeuroD1/BETA2, have been associated with diabetes. Cell type-specific members of the basic helix-loop-helix (bHLH) family of transcription factors play essential roles in the development and maintenance of many differentiated cell types, including pancreatic be...

2017
V. Radha V. Mohan

Advances in the understanding of monogenic causes of diabetes and the discovery of single-gene mutations responsible for different phenotypes have greatly increased our knowledge of β-cell physiology. Such advances have had implications for the individual patient diagnosed with the specific monogenic cause of diabetes, especially in maturity onset diabetes of the young (MODY) and neonatal diabe...

Journal: :Cell Metabolism 2005

Journal: :Diabetes research and clinical practice 2000
Maciej T Malecki

The clinical picture of type 2 diabetes mellitus (T2DM) is formed by impairment in insulin secretion and resistance to insulin action. As a result of intensive efforts of the scientists around the world mutations and polymorphisms in a number of genes were linked with monogenic and polygenic forms of T2DM. Two major strategies were used in this research: genome scanning and the candidate gene a...

Journal: :Arquivos Brasileiros de Endocrinologia & Metabologia 2002

2010
Gargi Meur Albane Simon Nasret Harun Marie Virally Aurélie Dechaume Amélie Bonnefond Sabrina Fetita Andrei I. Tarasov Pierre-Jean Guillausseau Trine Welløv Boesgaard Oluf Pedersen Torben Hansen Michel Polak Jean-François Gautier Philippe Froguel Guy A. Rutter Martine Vaxillaire

OBJECTIVE Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. Here, we sought to identify INS mutations associated with maturity-onset diabetes of the young (MODY) or nonautoimmune diabetes in mid-adult life, and to explore the molecular mechanisms involved. RESEARCH DESIGN AND METHODS The INS gene was sequenced in 16 Fr...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید