Results 71 to 80 of about 14,116 (173)

Case Report: New insights about clinical manifestations of patients with GCK genetic variants

Frontiers in Endocrinology
GCK-MODY is a genetic condition characterized by alterations in the GCK gene, which can include several types of inactivating genetic variants - ranging from missense and nonsense variants, and splice site variants, to small and large deletions and ...
Ritiele Bastos de Souza, Gabriella de Medeiros Abreu, Gabriella de Medeiros Abreu, Marília Chaves Bernardo, Roberta Magalhães Tarantino, Melanie Rodacki, Lenita Zajdenverg, Amanda Ferreira de Andrade, Deborah Snaider Nicolay, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Renata Szundy Berardo, Jorge Luiz Luescher, Verônica Marques Zembrzuski, Pedro Hernan Cabello, Mario Campos Junior   +19 more
doaj   +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

Lipid profile indices in young people with different types of diabetes mellitus

Атеросклероз, 2022
Of all types of diabetes mellitus (DM), type 1 diabetes mellitus (DM1) and type 2 diabetes (DM2) are most often diagnosed in young people. However, up to 10 % of all cases of DM diagnosed at a young age are monogenic forms of DM – MODY (Maturity-Onset ...
Alla K. Ovsyannikova, Vlada I. Alferova, Oksana D. Rymar   +2 more
doaj   +1 more source

Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults

Medical Journal of Australia, Volume 223, Issue 9, Page 484-491, November 2025.
Abstract Introduction Monogenic diabetes accounts for 2–5% of diabetes. Although its identification has substantial therapeutic implications, more than 80% of affected individuals are undiagnosed or misdiagnosed as having type 1 or 2 diabetes. This consensus statement reviews genetic testing for monogenic diabetes in adults and provides evidence‐based ...
Sunita MC De Sousa, Timothy ME Davis, James Harraway, Mark Greenslade, Kathy HC Wu, Ryan G Paul, Juliet Taylor, Aleena S Ali, Elif I Ekinci, Rinki Murphy, Jerry R Greenfield   +10 more
wiley   +1 more source

Development of a Chinese‐Specific Clinical Model to Predict Maturity‐Onset Diabetes of the Young

Diabetes/Metabolism Research and Reviews, Volume 41, Issue 6, September 2025.
ABSTRACT Aims Accurate identification of individuals with maturity‐onset diabetes of the young (MODY) can support precision diabetes management. However, diagnosing MODY is challenging due to overlapping clinical features with type 2 diabetes. We aimed to develop a prediction model for identifying Chinese with high likelihood of MODY for further ...
Sandra T. F. Tsoi, Cadmon K. P. Lim, Ronald C. W. Ma, Eric S. H. Lau, Baoqi Fan, Chun Kwan O, Yingnan Fan, Elaine Chow, Alice P. S. Kong, Wing‐Yee So, Juliana C. N. Chan, Andrea O. Y. Luk   +11 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

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Pharmacogenomics in the UK National Health Service: Progress towards implementation

British Journal of Clinical Pharmacology, Volume 91, Issue 8, Page 2241-2250, August 2025.
Over the past decade there has been considerable and growing enthusiasm about the promise of using genomics to inform healthcare. In particular, using genetic data to inform prescribing practice has emerged as a compelling policy priority for health systems around the world, not least in the NHS.
John H. McDermott, Maria Tsakiroglou, William G. Newman, Munir Pirmohamed   +3 more
wiley   +1 more source

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