Results 61 to 70 of about 14,720 (176)

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

JCRPE, 2021
Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics ...
Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, Filiz Tütüncüler Kökenli   +7 more
doaj   +1 more source

The First Case of Digenic MODY Diabetes Involving Compound Heterozygosity of Three Variants in the PDX1 and HNF1B Genes [PDF]

Mol Genet Genomic Med
A history of a woman diagnosed with diabetes at 15 led to the discovery of the first digenic MODY with compound heterozygosity of three variants in the PDX1 and HNF1B genes and family cascade screening. This underscores the importance of next‐generation sequencing in the differential diagnosis of diabetes type and extra‐pancreatic abnormalities ...
Płonka‐Stępień M, Szopa M, Zawada M, Malecki M.   +3 more
europepmc   +2 more sources

Glycemic and Renal Effects of SGLT2 Inhibitors in Monogenic Diabetes: A Real‐World National Study

Diabetes, Obesity and Metabolism, Volume 28, Issue 10, Page 9633-9643, October 2026.
ABSTRACT Aims Evidence regarding the efficacy and safety of sodium–glucose cotransporter 2 inhibitors (SGLT2i) in monogenic diabetes is limited. We evaluated real‐world metabolic, renal, and safety outcomes of SGLT2i therapy in adults with monogenic diabetes.
Estelle Audrain, Pierre Bel Lassen, Christine Bellanné‐Chantelot, Marie Christine Vantyghem, Hippolyte Dupuis, Tiphaine Vidal‐Trecan, Nicolas Chevalier, Danièle Dubois‐Laforgue, Sophie Lamothe, Camille Vatier, Orianne Villard, René Valéro, Claire Briet, Corinne Vigouroux, Cécile Ciangura, Chloé Amouyal   +15 more
wiley   +1 more source

Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

, 2021
Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK ‐MODY and HNF1A ‐MODY are the prevalent subtypes.
Caetano, L.A., Nery, M., Kohara, S.K., Collett-Solberg, P., Zarabia, Z.I., Teles, M.G., Crisostomo, L.G., Floh, F.O., Jorge, A.A.L., Santana, L.S., Costa-Riquetto, A.D., Sewaybricker, L.E., Passone, C.G.B., Quedas, E.P.S., Guastapaglia, L., Boguszewski, M.C.S., Vendramini, M.F.   +16 more
core   +1 more source

Molecular genetic analysis and clinical consideration of two families with GCK gene mutation [PDF]

Jichu yixue yu linchuang, 2020
Objective To explore the molecular genetics and clinical characteristics of two cases of maturity-onset diabetes of the young (MODY) type 2 caused by glucokinase (GCK) gene mutation.
WANG Zhi-xin, ZUO Qing-yao, LI Wei, CHEN Jia, DENG Wei
doaj  

A case of maturity‐onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant

Journal of Diabetes Investigation, Volume 17, Issue 9, Page 1457-1466, September 2026.
ABSTRACT Aims/Introduction Maturity‐onset diabetes of the young (MODY) accounts for at least 1%–5% of diabetes cases and is usually caused by single gene variants. Accurate diagnosis of MODY is important for effective management, especially in young individuals who are lean and lack islet autoantibodies.
Tomofumi Takayoshi, Yushi Hirota, Kenji Sugawara, Aki Sugano, Mika Ohta, Takehito Takeuchi, Akane Yamamoto, Wataru Satake, Yutaka Takaoka, Wataru Ogawa   +9 more
wiley   +1 more source

Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form.
Mafalda Cascais, Ester Pereira, Alexandra Vieira, Margarida Venâncio, Lina Ramos, Pascoal Moleiro   +5 more
doaj   +1 more source

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil

Frontiers in Endocrinology, 2022
Monogenic forms of diabetes mellitus may affect a significant number of patients of this disease, and it is an important molecular cause to be investigated.
Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Juliana Rosa Ferreira de Oliveira Andrade, Juliana Rosa Ferreira de Oliveira Andrade, Ritiele Bastos de Souza, Camila de Almeida Pereira Dias Soares, Amanda Cambraia, Pedro Hernan Cabello, Pedro Hernan Cabello, Melanie Rodacki, Lenita Zajdenverg, Verônica Marques Zembrzuski, Mário Campos Junior   +14 more
doaj   +1 more source

TBC1D4‐Related Monogenic Diabetes: Molecular Mechanisms, Clinical Recognition, and Therapeutic Implications

Journal of Diabetes, Volume 18, Issue 8, August 2026.
TBC1D4‐related monogenic diabetes is characterized by defective AS160‐mediated GLUT4 trafficking, skeletal muscle insulin resistance, and predominant postprandial hyperglycemia. Clinical recognition relies on atypical young‐onset diabetes with marked insulin resistance, followed by genetic confirmation and individualized management.
Wenjing Wang, Lidan Ma, Bingzi Dong, Peihan Gao, Xiaofang Sun   +4 more
wiley   +1 more source

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