Results 51 to 60 of about 14,720 (176)

Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene

Trends in Pediatrics, 2020
Objective: Maturity-Onset Diabetes of the Young (MODY) is the most common type of monogenic diabetes. Heterozygous inactivating variants in glucokinase (GCK) gene are related to MODY2 (GCK–MODY).
Mustafa Altan, Ayşe Anık, Nilay Tuğçe Işık Bayar, Gokay Bozkurt, Tolga Ünüvar, Ahmet Anık   +5 more
doaj   +1 more source

Genetics‐Informed Pharmacological Intervention in Gestational Diabetes Mellitus: Current Therapeutic Alignment, Emerging Targets and a Translational Roadmap

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Gestational diabetes mellitus (GDM) complicates roughly one in seven pregnancies and predicts later maternal type 2 diabetes mellitus (T2DM). Yet its pharmacological management still rests on a handful of agents (insulin, metformin and glibenclamide), none of them selected on the basis of the disease's molecular genetics.
Wael Osman
wiley   +1 more source

Identification of GCK - Monogenic diabetes (GCK-MODY) in gestational diabetes subjects – diagnostic and treatment approach: literature review. [PDF]

Background. Maturity-onset diabetes of the young (MODY) is an autosomal dominant diabetes caused by a single gene mutation, leading to early-onset pancreatic beta-cell dysfunction. Its non-specific symptoms often result in misdiagnosis.
Boguševičiūtė, Agnė,
core   +1 more source

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

PLoS ONE, 2012
Heterozygous glucokinase (GCK) mutations cause a subtype of maturity-onset diabetes of the young (GCK-MODY). Over 600 GCK mutations have been reported of which ∼65% are missense.
Lucia Valentínová, Nicola L Beer, Juraj Staník, Nicholas D Tribble, Martijn van de Bunt, Miroslava Hučková, Amy Barrett, Iwar Klimeš, Daniela Gašperíková, Anna L Gloyn   +9 more
doaj   +1 more source

Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation

Frontiers in Endocrinology, 2021
Introduction/AimsMaturity-Onset Diabetes of the Young (MODY) is a monogenic non-autoimmune diabetes with 14 different genetic forms. MODY-related mutations are rarely found in the Tunisian population.
Mariam Moalla, Wajdi Safi, Maab Babiker Mansour, Mohamed Hadj Kacem, Mona Mahfood, Mohamed Abid, Thouraya Kammoun, Mongia Hachicha, Mouna Mnif-Feki, Faten Hadj Kacem, Hassen Hadj Kacem   +10 more
doaj   +1 more source

Glycaemic Management and Pregnancy Outcomes in HNF1A‐MODY

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Introduction Birthweight of HNF1A‐affected offspring is largely similar to the background population with rarely reported cases of large for gestational age (LGA) and neonatal hypoglycaemia (NH). Conventional clinical management of pre‐gestational diabetes appears to be sufficient in managing HNF1A‐affected women in pregnancy.
M. T. Crowley, P. McCluskey, N. Ng, B. Sanchez‐Lechuga, A. Fleming, M. Hatunic, B. Kinsley, S. Bacon, K. Colclough, M. Kennelly, M. M. Byrne   +10 more
wiley   +1 more source

Genetic basis of Asian diabetes

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Recent genomic studies in Asian populations have advanced our understanding of the diagnosis, pathophysiology, risk prediction, and precision care of diabetes. Monogenic diabetes, including maturity‐onset diabetes of the young (MODY) and mitochondrial diabetes, highlights the importance of genetic diagnosis for subtype‐specific care.
Takafumi Ojima, Toshimasa Yamauchi
wiley   +1 more source

A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes

Life, 2021
Maturity-onset diabetes of the young (MODY) has about a dozen known causal genes to date, the most common ones being HNF1A, HNF4A, HNF1B and GCK. The phenotype of this clinically and genetically heterogeneous form of diabetes depends on the gene in which
Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh   +9 more
doaj   +1 more source

Type 1 diabetes in the era of obesity: Pathophysiology and therapeutic implications

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Type 1 diabetes is defined by immune‐mediated beta‐cell failure and dependence on exogenous insulin. That definition is correct, but it may not fully describe many people seen in current clinical practice. Overweight and obesity are now common in type 1 diabetes, leading to variable combinations of high insulin requirement, hypertension ...
Zachary Bloomgarden
wiley   +1 more source

Hemoglobin A(1C) can differentiate subjects with GCK mutations among patients suspected to have MODY.

, 2022
Objectives The aim of this study is to determine the clinical and molecular characteristics enabling differential diagnosis in a group of Turkish children clinically diagnosed with MODY and identify the cut-off value of HbA(1c), which can distinguish ...
Kulalı, Melike Ataseven, Kekilli, Arda, Paketçi, Ahu, Böber, Ece, Erçal, Murat Derya, Abacı, Ayhan, Çağlayan, Ahmet Okay, Giray Bozkaya, ÖZLEM, Çinleti, Tayfun, Demir, Korcan, Yılmaz Uzman, Ceren, Erbaş, İbrahim Mert   +11 more
core   +1 more source