Results 71 to 80 of about 14,720 (176)

Contrasting Effects of Chronic Glucokinase Activation and Inhibition on Pancreatic Beta‐Cell Function

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
In the non‐diabetic beta‐cell (top left) activation of glucokinase (bottom left) leads to inhibition of mitochondrial metabolism and thereby impairs insulin secretion. The effect is similar to that of chronic hyperglycaemia as seen in the diabetic beta‐cell (top right).
Matthew Lloyd, Natascia Vedovato, Samuel J. Mullan, Alice Elphick, Aerin J. Dumenil, Chantal Rufer, Alexandra C. Title, Burcak Yesildag, Elizabeth Haythorne, Frances M. Ashcroft   +9 more
wiley   +1 more source

Dorzagliatin, a dual-acting glucokinase activator, increases insulin secretion and glucose sensitivity in glucokinase-maturity-onset diabetes of the young (GCK-MODY) and recent-onset type 2 diabetes

, 2022
Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is caused by heterozygous inactivating mutations in glucokinase (GK, gene symbol GCK) and impaired glucose sensing.
Li Chen (5749), Ronald CW Ma (8985394), Cadmon KP Lim (8985365), Sandra TF Tsoi (14007694), Ele Ferrannini (248028), Juliana CN Chan (8712420), Andrea Mari (297970), Ke Wang (82395), Andrea OY Luk (14007697), Elaine Chow (8473992), Baoqi Fan (8985353), Emily Poon (3525038)   +11 more
core   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young

Endocrinology, Diabetes & Metabolism Case Reports
early-onset diabetes with dominant inheritance of beta-cell dysfunction. There are few reports of the coinheritance of glucokinase (GCK) and hepatocyte nuclear factor 1 alpha gene (HNF1A) variants underlying MODY in patients.
Daisuke Watanabe, Hideaki Yagasaki, Hiromune Narusawa, Takeshi Inukai   +3 more
doaj   +1 more source

The Double‐Edged Sword of Gestational Insulin Resistance: Navigating Maternal Adaptation and Its Risks for Pregnancy and Offspring Health

Obesity Reviews, Volume 27, Issue 4, April 2026.
ABSTRACT Although much research focuses on the effects of hyperglycemia during pregnancy on maternal and offspring health, this narrative review specifically centers on the role of insulin resistance (IR) in pregnancy complications and offspring long‐term health.
Runyu Du, Fei Wang, Ling Li, Qiuyue Wang
wiley   +1 more source

Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.

, 2014
Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes of the young (MODY) subtype GCK (GCK-MODY/MODY2).
Contreas G, GIORGETTI, ALEJANDRO, MAFFEIS, Claudio, Costantini S, S. Costantini, G. Contreas, MALERBA, Giovanni, S.P. Marin Vargas, Marin Vargas, Sergio Paul, M. Corradi, C. Maffeis, G. Malerba, A. Giorgetti, CORRADI, Massimiliano   +13 more
core   +1 more source

Implications of Genetic Elements on Type 2 Diabetes Mellitus Pathogenesis and Management

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 2, March 2026.
Genetic variations in T2DM, including key metabolic and insulin‐related genes, influence disease risk, insulin resistance, and drug response. Understanding these polymorphisms enables precision medicine, optimising therapy and improving glycaemic control across diverse populations.
Nokwanda N. Ngcobo, Ntethelelo H. Sibiya
wiley   +1 more source

Identification of GCK-MODY in cases of neonatal hyperglycemia: a case series and review of clinical features.

, 2021
Heterozygous mutations in GCK result in a persistent, mildly raised glucose from birth, but it is usually diagnosed in adulthood as maturity-onset diabetes of the young (MODY), where hyperglycemia is often an incidental finding.
SE Flanagan (21320006), E De Franco (21826052), AE Hughes (14500538), P Sifianou (21931955), AT Hattersley (7655273), D Hilgard (21931952), E Globa (21834269), N Zelinska (21834272)   +7 more
core   +2 more sources

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus

JCRPE
INTRODUCTION: Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes. To date, mutations have been identified in 14 different genes of patients with a clinical diagnosis of MODY. This study screened mutations in 14 MODY-
Enver Şimşek, Oğuz Çilingir, Tülay Şimşek, Sinem Kocagil, Ebru Erzurumluoğlu Gökalp, Meliha Demiral, Çiğdem Binay   +6 more
doaj   +1 more source

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

Journal of Diabetes Research, 2021
Background. Maturity-onset diabetes of the young (MODY) is commonly misdiagnosed as type 1 or type 2 diabetes. Common reasons for misdiagnosis are related to limitations in genetic testing.
Rumi Katashima, Mari Matsumoto, Yuka Watanabe, Maki Moritani, Ichiro Yokota   +4 more
doaj   +1 more source