Results 81 to 90 of about 14,720 (176)

Coexistence of T1DM and GCK-MODY: Case Report and Literature Review

Journal of Clinical Research in Pediatric Endocrinology
Coexistence of Type 1 diabetes mellitus (T1DM) with glucokinase maturity-onset diabetes of the young (GCK-MODY) is extremely rare. Herein, we reported a case, conducted a systematic review and summarized the other reported cases to enhance the awareness of this rare diabetes subtype.
Yurong, Piao, Congli, Chen, Yuqi, Miao, Di, Wu, Yanmei, Sang   +4 more
openaire   +2 more sources

Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY) [PDF]

Diabetes Care, 2009
OBJECTIVE To evaluate the heterogeneity in the clinical expression in a family with glucokinase mature-onset diabetes of the young (GCK-MODY). RESEARCH DESIGN AND METHODS Members (three generations) of the same family presented either with overt ...
Cuesta-Muñoz, Antonio L., Tuomi, Tiinamaija, Cobo-Vuilleumier, Nadia, Koskela, Hanna, Odili, Stella, Stride, Amanda, Buettger, Carol, Otonkoski, Timo, Froguel, Philippe, Grimsby, Joseph, Garcia-Gimeno, Maria, Matschinsky, Franz M.   +11 more
openaire   +2 more sources

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

Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives

Diabetes, Metabolic Syndrome and Obesity, 2019
Victoria L Rudland1,21Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, NSW, Australia; 2Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaAbstract: Glucokinase–maturity-onset diabetes of the young ...
Rudland VL
doaj  

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

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

Targeted sequencing identifies novel variants in common and rare MODY genes

Molecular Genetics & Genomic Medicine, 2019
Background Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype.
Lucas S. deSantana, Lilian A. Caetano, Aline D. Costa‐Riquetto, Pedro C. Franco, Renata P. Dotto, André F. Reis, Letícia S. Weinert, Sandra P. Silveiro, Marcio F. Vendramini, Flaviene A. doPrado, Giovanna C. P. Abrahão, Ana Gregória F. P. deAlmeida, Maria da G. Rodrigues Tavares, Wagner Rodrigo B. Gonçalves, Augusto C. Santomauro Junior, Bruno Halpern, Alexander A. L. Jorge, Marcia Nery, Milena G. Teles   +18 more
doaj   +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

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes

Communications Medicine
Background Natural HbA1c levels in GCK Maturity-onset diabetes of the young (GCK-MODY) patients often sit above the diagnostic threshold for type 2 diabetes (T2D).
Kelly M. Schiabor Barrett, Natalie Telis, Lisa M. McEwen, Evanette K. Burrows, Basil Khuder, Daniel P. Judge, Pamala A. Pawloski, Joseph J. Grzymski, Nicole L. Washington, Alexandre Bolze, Elizabeth T. Cirulli   +10 more
doaj   +1 more source

Genetic risk and polygenic risk score assessment of prediabetes and progression to type 2 diabetes

Diabetes, Obesity and Metabolism, Volume 27, Issue 8, Page 4469-4479, August 2025.
Abstract Aims To identify susceptibility loci to prediabetes and evaluate the performance of existing polygenic risk scores (PGS) for type 2 diabetes (T2D) in predicting prevalent prediabetes and progression to diabetes. Materials and Methods We conducted a case–control Genome‐Wide Association Study (GWAS) on Qatar Biobank (QBB) participants with ...
Usama Aliyu, Umm‐Kulthum Ismail Umlai, Nayra M. Al‐Thani, Salman M. Toor, Abdul Badi Abou‐Samra, Omar M. E. Albagha   +5 more
wiley   +1 more source