Results 31 to 40 of about 14,116 (173)

Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing [PDF]

Endocrinology and Metabolism, 2017
Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with
Eun-Hee Cho, Jae Woong Min, Sun Shim Choi, Hoon Sung Choi, Sang-Wook Kim   +4 more
doaj   +1 more source

Genetic counseling in monogenic diabetes GCK MODY

Pediatric Endocrinology Diabetes and Metabolism, 2016
Genetic testing in families with monogenic GCK MODY has predictive, diagnostic, and preventive utility. Predictive tests relate to people who have no features of the disorder themselves at the time of testing. Diagnostic tests relate to family members who have been previously diagnosed with diabetes mellitus or glucose metabolism disturbances.
Eliza, Skała-Zamorowska, Grażyna, Deja, Maciej, Borowiec, Wojciech, Fendler, Beata, Małachowska, Halla, Kamińska, Wojciech, Młynarski, Przemysława, Jarosz-Chobot   +7 more
openaire   +5 more sources

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. [PDF]

PLoS ONE, 2008
BACKGROUND: Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK). METHODOLOGY/PRINCIPAL FINDINGS: We screened the GCK gene by direct sequencing in 30 patients
Nadia Tinto, Adriana Zagari, Marina Capuano, Alfonso De Simone, Valentina Capobianco, Gerardo Daniele, Michela Giugliano, Raffaella Spadaro, Adriana Franzese, Lucia Sacchetti   +9 more
doaj   +1 more source

Humoral response markers in GCK MODY

Pediatric Endocrinology Diabetes and Metabolism, 2016
The prevalence of antibodies to pancreatic islets in monogenic diabetes remains unknown and the incidence estimation is difficult as the occurrence of autoantibodies in patient is one of the well-known exclusion criteria for further genetic diagnostics.
Eliza Skała-Zamorowska, Grażyna Deja, Borowiec, Maciej, Fendler, Wojciech, Małachowska, Beata, Halla Kamińska, Wyka, Krystyna, Młynarski, Wojciech, Przemysława Jarosz-Chobot   +8 more
openaire   +2 more sources

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

Neonatal outcome and diabetes course in children with GCK-MODY born from women with GCK-MODY

Pediatric Endocrinology Diabetes and Metabolism, 2018
Gestational diabetes is one of the most common medical disorders and may cause numerous of maternal and foetal complications, such as: preterm births, congenital defects, hypertrophic cardiomyopathy, metabolic changes, and macrosomia in neonates. One of the types of diabetes that may clinically manifest in pregnancy is GCK-MODY, caused by mutations in ...
Katarzyna, Kopacz-Petranyuk, Agnieszka, Brandt-Varma, Marta, Buraczewska, Anna, Wołoszyn-Durkiewicz, Jagoda, Peczyńska, Krzysztof, Preis, Przemysława, Jarosz-Chobot, Agnieszka, Szadkowska, Wojciech, Młynarski, Małgorzata, Myśliwiec   +9 more
openaire   +3 more sources

Glucokinase Deficit Prevalence in Women With Diabetes in Pregnancy: A Matter of Screening Selection

Frontiers in Endocrinology, 2020
Introduction: The prevalence among pregnant women with diabetes of monogenic diabetes due to glucokinase deficit (GCK-MODY) varies from 0 to 80% in different studies, based on the chosen selection criteria for genetic test.
Olimpia Bitterman, Chiara Giuliani, Camilla Festa, Angela Napoli   +3 more
doaj   +1 more source

High prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study. [PDF]

Diabet Med
Abstract Aims Maturity‐Onset Diabetes of the Young (MODY) results from a single‐gene defect. This study aimed to determine the minimal prevalence, screening indicators, as well as clinical characteristics of MODY in the Czech Republic based on data from 25 years of the nationwide registry.
Dusatkova P, Pavlikova M, Cermakova M, Vesela K, Kolarova K, Elblova L, Sumnik Z, Lebl J, Pruhova S.   +8 more
europepmc   +2 more sources

DataSheet_1_Distinguishing the lipid profile of GCK-MODY patients and its correlation with hsCRP levels.docx

, 2022
AimsGlucokinase–maturity-onset diabetes of the young (GCK-MODY) is the most common monogenic diabetes in China. We have previously reported on the low levels of high-sensitivity C-reactive protein (hsCRP) in patients with GCK-MODY.
Xinhua Xiao (486688), Fan Ping (339769), Junling Fu (3434762)   +2 more
core   +1 more source

GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated [PDF]

Acta Diabetologica, 2016
Siri Atma W Greeley, Louis Philipson, David Carmody   +2 more
exaly   +2 more sources