Results 91 to 100 of about 14,720 (176)

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

COPY NUMBER VARIATION IN MODY DIABETES - FAMILIAL CASE PRESENTATION

Genetics & Applications, 2018
MODY (Maturity-Onset Diabetes of the Young) is an autosomal dominant form of diabetes that usually have onset in adolecence. This type of diabetes is caused by defects in the primary insulin secretion.
Naida Lojo-Kadrić, Zelija Velija-Ašimi, Jasmin Ramić, Ksenija Radić, Lejla Pojskić   +4 more
doaj   +3 more sources

Comparison of Glomerular Filtration Rate Estimation from Serum Creatinine and Cystatin C in HNF1A-MODY and Other Types of Diabetes

Journal of Diabetes Research, 2015
Introduction. We previously showed that in HNF1A-MODY the cystatin C-based glomerular filtration rate (GFR) estimate is higher than the creatinine-based estimate. Currently, we aimed to replicate this finding and verify its clinical significance. Methods.
Magdalena Szopa, Maria Kapusta, Bartlomiej Matejko, Tomasz Klupa, Teresa Koblik, Beata Kiec-Wilk, Maciej Borowiec, Maciej T. Malecki   +7 more
doaj   +1 more source

The Challenges of Treating Glucokinase MODY during Pregnancy: A Review of Maternal and Fetal Outcomes

, 2022
Background: The optimal treatment strategy for the follow-up and management of women with glucokinase maturity-onset diabetes of the young (GCK−MODY)during pregnancy remains unknown. Data regarding maternal and fetal outcomes are lacking. Aim: This paper
Barak, Oren, Schiller, Tal, Kirzhner, Alena, Zornitzki, Taiba, Alena Kirzhner, Edi Vaisbuch, Tal Schiller, Oren Barak, Vaisbuch, Edi, Taiba Zornitzki   +9 more
core   +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  

Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young

Journal of Diabetes Investigation, 2019
Aims/Introduction Glucokinase–maturity‐onset diabetes of the young (GCK‐MODY; also known as MODY2) is a benign hyperglycemic condition, which generally does not require medical interventions.
Yuki Hosokawa, Shinji Higuchi, Rie Kawakita, Ikue Hata, Tatsuhiko Urakami, Tsuyoshi Isojima, Kei Takasawa, Yohei Matsubara, Haruo Mizuno, Yoshihiro Maruo, Katsuyuki Matsui, Katsuya Aizu, Kazuhiko Jinno, Shunsuke Araki, Yasuko Fujisawa, Koji Osugi, Chikako Tono, Yasuhiro Takeshima, Tohru Yorifuji   +18 more
doaj   +1 more source

DataSheet1_GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY.docx

, 2023
Objective: Glucokinase-maturity-onset diabetes of the young (GCK-MODY; MODY2) is a rare genetic disorder caused by mutations in the glucokinase (GCK) gene.
Lifen Chen (3769015), Xiaoyu Ma (831683), Juanjuan Zhang (432819), Chuanyin Li (384935), Lin Li (28817), Wenli Lu (507310), Ronggui Hu (1828948), Ni Zhen (3774214), Caiping Zhang (6745976), Tongtong Dai (15138055), Zhiya Dong (10228241), Renqiao Tang (15138061), Yuan Xiao (304208), Sheng Lv (15138058), Yun Yang (417125)   +14 more
core   +1 more source

MODY probability calculator for GCK and HNF1A screening in a multiethnic background population

Archives of Endocrinology and Metabolism
Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as ...
Roberta Magalhães Tarantino, Gabriella de Medeiros Abreu, Ana Carolina Proença de Fonseca, Rosane Kupfer, Maria de Fátima Carvalho Pereira, Mario Campos Júnior, Lenita Zajdenverg, Melanie Rodacki   +7 more
doaj   +1 more source

HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey

BMC Endocrine Disorders, 2019
Background The molecular basis of the Turkish population with suspected maturity-onset diabetes of the young (MODY) has not been identified. This is the first study to investigate the association between HNF1A-gene single-nucleotide polymorphisms (SNPs ...
Selvihan Beysel, Nilnur Eyerci, Ferda Alparslan Pinarli, Muhammed Kizilgul, Ozgur Ozcelik, Mustafa Caliskan, Erman Cakal   +6 more
doaj   +1 more source

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012
GCK-MODY, dominantly inherited mild fasting hyperglycemia, has been associated with >600 different mutations in the glucokinase (GK)-encoding gene (GCK). When expressed as recombinant pancreatic proteins, some mutations result in enzymes with normal/near-normal catalytic properties.
Negahdar, Maria, Aukrust, Ingvild, Johansson, Bente B., Molnes, Janne, Molven, Anders, Matschinsky, Franz M., Søvik, Oddmund, Kulkarni, Rohit N., Flatmark, Torgeir, Njølstad, Pål Rasmus, Bjørkhaug, Lise   +10 more
openaire   +2 more sources