Results 81 to 90 of about 14,116 (173)

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

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

The pathophysiology, presentation and classification of Type 1 diabetes

Diabetes, Obesity and Metabolism, Volume 27, Issue S6, Page 15-27, August 2025.
Abstract Type 1 diabetes is characterised by the autoimmune destruction of pancreatic β‐cells, leading to an absolute or near‐absolute insulin deficiency. Although traditionally associated with childhood onset, it can manifest at any age, and it is increasingly recognised that there is significant heterogeneity in its clinical presentation. This review
Kristie I. Aamodt, Alvin C. Powers
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  

Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees

Journal of Diabetes, Volume 17, Issue 7, July 2025.
We first collected the patients with diabetes, including the clinical data and blood. Then the high‐throughput sequencing platform was used to detected gene mutation using blood samples. After screening the possible mutation sites, we collected blood from the patient's family members and performed Sanger sequencing for verification.
ChangQing Liu, HangYu Fang, Dong Wang, YiPing Cheng, Ping Shi, ChunXiao Yu, XiaoHong Li, Hui Zhao, Wei Hou, ZhenKui Guo, Chao Xu, QingBo Guan   +11 more
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

Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes

Diabetic Medicine, Volume 42, Issue 5, May 2025.
Abstract Aims Pregnant women are occasionally misdiagnosed with gestational diabetes (GDM) when they may have glucokinase monogenic diabetes (GCK‐MODY). Differentiating between GCK‐MODY and GDM is critical due to the distinct treatment strategies required during and after pregnancy.
Sine Knorr, Laura L. Knudsen, Anne L. Madsen, Lene R. Madsen, Lene Mortensen, Henrik H. Thomsen, Lars Peter Sørensen, Per G. Ovesen, Jens Fuglsang, Ulla Kampmann   +9 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

Prevalence and Clinical Characteristics of NEUROD1‐MODY in Chinese Early‐Onset Type 2 Diabetes Mellitus and a Literature Review

Journal of Diabetes, Volume 17, Issue 4, April 2025.
We, for the first time, calculated that the prevalence of NEUROD1‐MODY was less than 0.15% in Chinese patients with early‐onset type 2 diabetes mellitus. The p.P197H variant of the NEUROD1 gene significantly decreased the transcriptional activity of the insulin promoter by nearly 50% compared with that of the wild type.
Tianhao Ba, Qian Ren, Siqian Gong, Meng Li, Hong Lian, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Xiuying Zhang, Jing Chen, Jing Wu, Xianghai Zhou, Yufeng Li, Xirui Wang, Fang Wang, Liyong Zhong, Xueyao Han, Linong Ji   +21 more
wiley   +1 more source