Results 41 to 50 of about 14,116 (173)
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. [PDF]
Diabetes Res Clin Pract, 2019 We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY.
Sanyoura M +6 more
europepmc +4 more sources
A comprehensive map of human glucokinase variant activity
Genome Biology, 2023 Background Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia or hyperglycemia associated with GCK-maturity-onset diabetes of the ...
Sarah Gersing +14 more
doaj +1 more source
, 2023 Glucokinase variant-induced maturity-onset diabetes of the young (GCK-MODY) exhibits the unique clinical features of mild fasting hyperglycaemia. However, formal studies of its glucose excursion pattern in daily life in comparison with those with or ...
Tianhao Ba (14802617) +16 more
core +1 more source
Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients. [PDF]
J Clin Res Pediatr Endocrinol, 2017 The aim of the study was to evaluate the clinical phenotypes of glucokinase-maturity-onset diabetes of the young (GCK-MODY) pediatric patients from Southwest Poland and to search for phenotype-genotype correlations.We conducted a retrospective analysis of data on 37 CGK-MODY patients consisting of 21 girls and 16 boys of ages 1.9-20.1 (mean 12.5±5.2 ...
Wędrychowicz A +8 more
europepmc +4 more sources
Prevalence of Retinopathy in Adult Patients with GCK-MODY and HNF1A-MODY
Experimental and Clinical Endocrinology & Diabetes, 2015 We aimed to assess the prevalence of diabetic retinopathy (DR) in adult patients with GCK-MODY and HNF1A-MODY in Poland and to identify biochemical and clinical risk factors associated with its occurrence.We examined 74 GCK mutation carriers, 51 with diabetes and 23 with prediabetes, respectively, and 63 patients with HNF1A-MODY.
Szopa, Magdalena +9 more
openaire +3 more sources
, 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 +11 more
core +1 more source
ANALYSIS OF MICRORNA EXPRESSION PATTERN IN SMALL INTESTINE OF CELIAC PATIENTS [PDF]
, 2010 Celiac disease (CD) is a chronic inflammatory disease characterized by small intestinal mucosal injury and nutrient malabsorption in genetically susceptible individuals following the dietary ingestion of gluten1.
Capuano, Marina
core +1 more source
Chinese Medical Journal, 2023 . Background:. Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults. Methods:.
Yan Chen +11 more
doaj +1 more source
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations
, 2020 Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence.
Gomes, Leonor +43 more
core +1 more source
Functional inactivation of drosophila GCK orthologs causes genomic instability and oxidative stress in a fly model of MODY-2 [PDF]
, 2021 Maturity-onset diabetes of the young (MODY) type 2 is caused by heterozygous inactivating mutations in the gene encoding glucokinase (GCK), a pivotal enzyme for glucose homeostasis. In the pancreas GCK regulates insulin secretion, while in the liver it
Fiammetta Vernì +9 more
core +1 more source