Results 41 to 50 of about 14,720 (176)

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, Susanna Amadio, Roberto Contestabile, Elisa Mascolo, Lorenzo Stufera Mecarelli, Francesco Liguori, Cinzia Volonté, Noemi Amoroso, Chiara Merigliano, Angela Tramonti   +9 more
core   +1 more source

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.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We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.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, Letourneau L, Knight Johnson AE, Del Gaudio D, Greeley SAW, Philipson LH, Naylor RN.   +6 more
europepmc   +4 more sources

A comparison of daily glucose fluctuation among GCK-MODY and type 2 diabetes using continuous glucose monitoring technology

, 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), Leili Gao (14802638), Siqian Gong (9740455), Fang Zhang (197215), Xiaomei Zhang (147359), Linong Ji (131708), Fang Lv (300995), Xiangqing Wang (2588506), Wei Liu (20030), Yumin Ma (9740452), Qian Ren (230930), Wenjia Yang (2865512), Ping Zhang (86495), Wuyan Pang (5219804), Rui Zhang (13940), Xueyao Han (319175), Xiuying Zhang (56160), Tianhao Ba, Xiangqing Wang, Fang Lv, Yumin Ma, Wuyan Pang, Wenjia Yang, Linong Ji, Qian Ren, Rui Zhang, Xiaomei Zhang, Ping Zhang, Fang Zhang, Siqian Gong, Xiuying Zhang, Xueyao Han, Leili Gao, Wei Liu   +33 more
core   +1 more source

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, Matteo Cagiada, Marinella Gebbia, Anette P. Gjesing, Atina G. Coté, Gireesh Seesankar, Roujia Li, Daniel Tabet, Jochen Weile, Amelie Stein, Anna L. Gloyn, Torben Hansen, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen   +14 more
doaj   +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, Tobór E, Wilk M, Ziółkowska-Ledwith E, Rams A, Wzorek K, Sabal B, Stelmach M, Starzyk JB.   +8 more
europepmc   +4 more sources

High prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study. [PDF]

Diabet Med
Abstract Aims Maturity‐Onset Diabetes of the Young (MODY) results from a single‐gene defect. This study aimed to determine the minimal prevalence, screening indicators, as well as clinical characteristics of MODY in the Czech Republic based on data from 25 years of the nationwide registry.
Dusatkova P, Pavlikova M, Cermakova M, Vesela K, Kolarova K, Elblova L, Sumnik Z, Lebl J, Pruhova S.   +8 more
europepmc   +2 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, Wolkow, J., Matejko, Bartłomiej, Skupień, Jan, Klupa, Tomasz, Wybrańska, Iwona, Trznadel-Morawska, Iwona, Kieć-Wilk, Beata, Borowiec, M., Małecki, Maciej   +9 more
openaire   +3 more sources

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, Martins, Diana, Dinis, Isabel, Bastos, Margarida, Maria M. Gomes, Miguel Melo, Joana T. Almeida, Bernardo D. Pereira, Mirante, Alice, Sofia Martins, Diana Martins, Gomes, Maria M., Manuel C. Lemos, Coutinho, Eduarda, Joana Saraiva, Almeida, Joana T., Leonor Gomes, Lemos, Manuel C., Barros, Luisa, Alvelos, Maria I., Carolina Moreno, Guelho, Daniela, Alice Mirante, Saraiva, Joana, Mara Ventura, Isabel Dinis, Melo, Miguel, Eduarda Coutinho, Ventura, Mara, Maria L. Sampaio, Baptista, Carla, Martins, Sofia, Sampaio, Maria L., Daniela Guelho, Moreno, Carolina, Luísa Barros, Carla Baptista, Maria I. Alvelos, Catarina I. Gonçalves, Gama-de-Sousa, Susana, Pereira, Bernardo D., Margarida Bastos, Susana Gama-de-Sousa, Gonçalves, Catarina I.   +43 more
core   +1 more source

Prevalence of maturity-onset diabetes of the young in phenotypic type 2 diabetes in young adults: a nationwide, multi-center, cross-sectional survey in China

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, Jing Zhao, Xia Li, Zhiguo Xie, Gan Huang, Xiang Yan, Houde Zhou, Li Zheng, Tao Xu, Kaixin Zhou, Zhiguang Zhou, Lishao Guo   +11 more
doaj   +1 more source

An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?

, 2023
Maturity Onset Diabetes of the Young (MODY) is a monogenic autosomal dominant disorder affecting 1-5 % of all patients with diabetes mellitus. In Caucasians, GCK and HNF1A mutations are the most common cause of MODY.
Bianchi, Cristina, Randazzo, Emioli, Lucchesi, Daniela, Del Prato, Stefano   +3 more
core   +1 more source