Results 31 to 40 of about 188,223,062 (256)

Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families

International Journal of Pediatrics & Adolescent Medicine, 2022
Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early ...
Said Trhanint, Laila Bouguenouch, Sana Abourazzak, Hanan El Ouahabi, Hanane Latrech, Salma Benyakhlef, Bahia Bennani, Ihssane El Bouchikhi, Fatima Zahra Moufid, Karim Ouldim, Lahsen El Ghadraoui, Nadia Maazouzi   +11 more
doaj   +1 more source

Prevalence of Obesity and Dyslipidemia in Maturity Onset Diabetes of the Young Patients

Endocrinology Research and Practice
Objective: Maturity-onset diabetes of the young (MODY) is an uncommon type of diabetes distinct from type 1 and type 2 diabetes. Diagnosis often depends on clinical suspicion, and misdiagnosis may lead to inappropriate treatment.
Murat Calapkulu, İlknur Öztürk Ünsal, Muhammed Erkam Sencar, Davut Sakiz, Mustafa Ozbek, Erman Cakal   +5 more
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +25 more
core   +1 more source

MODY: Strategies for a unique form of diabetes

Journal of Education and Health Promotion
Maturity-onset diabetes of the young (MODY) is a monogenic, autosomal dominant form of diabetes that typically presents before the age of 25. It is caused by mutations in single genes involved in insulin production and glucose regulation, leading to ...
Ram K. Garg
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Update on clinical screening of maturity-onset diabetes of the young (MODY)

Diabetology & Metabolic Syndrome, 2020
Background Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes, being characterized by beta-cell disfunction, early onset, and autosomal dominant inheritance.
Renata Peixoto-Barbosa, André F. Reis, Fernando M. A. Giuffrida   +2 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia

Journal of Diabetes Investigation, 2019
Aims/Introduction To investigate the clinical and genetic characteristics of Chinese patients with a phenotype consistent with maturity‐onset diabetes of the young type 2 and explore the pathogenic mechanism of their hyperglycemia.
Zhixin Wang, Chengming Diao, Yijing Liu, Mingmin Li, Jia Zheng, Qian Zhang, Miao Yu, Huabing Zhang, Fan Ping, Ming Li, Xinhua Xiao   +10 more
doaj   +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