Results 61 to 70 of about 14,116 (173)

A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes

Life, 2021
Maturity-onset diabetes of the young (MODY) has about a dozen known causal genes to date, the most common ones being HNF1A, HNF4A, HNF1B and GCK. The phenotype of this clinically and genetically heterogeneous form of diabetes depends on the gene in which
Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh   +9 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

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

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  

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

Retrospective examination of pediatric patients followed with the diagnosis of monogenic diabetes type 2 (mody type 2-GCK)

, 2022
Gençlikte ortaya çıkan erişkin tip diyabet (MODY), tek gende meydana gelen otozomal dominant mutasyonlar nedeniyle pankreas β hücrelerinde fonksiyon bozukluğuna yol açan diyabet formudur. Günümüzde MODY’ye yol açan 14 farklı gen mutasyonu tanımlanmıştır.
Tula, Burak
core  

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

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

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