Results 11 to 20 of about 12,946 (215)

ADe NovoWhole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency [PDF]

Case Reports in Genetics, 2011
We report on a boy with diabetes mellitus and a phenotype indicatingglucokinase(GCK) insufficiency, but a normalGCKgene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father, grandfather and great grandfather suffered type 2 DM. Several blood glucose profiles showed (BG) of 6.5–10 mmol/L L.
Birkebæk, Niels H, Sørensen, Jesper Sand, Vikre-Jørgensen, Jennifer, Jensen, Peter K.A., Pedersen, Oluf, Hansen, Torben   +5 more
core   +6 more sources

Evaluation of pregnancy outcomes in women with GCK‐MODY

Diabetic Medicine, 2021
AbstractAimsTo determine the fetal and maternal outcomes in pregnant women with Glucokinase‐Maturity onset diabetes of the young (GCK‐MODY).MethodsWe studied the obstetric and perinatal outcomes in 99 pregnancies of 34 women with GCK‐MODY. The mutation status of the offspring was known in 29 and presumed in 33.
Cristina López Tinoco, Begoña Sánchez Lechuga, Siobhan Bacon, Kevin Colclough, Nicholas Ng, Eleanor Wong, Eirena L. Goulden, Jackie Edwards, Aileen Fleming, Bridgette Byrne, Maria M. Byrne   +10 more
openaire   +4 more sources

Hypoglycemic response to dorzagliatin in a patient with GCK-MODY

Diabetes Care
<p dir="ltr"><a href="" target="_blank">OBJECTIVE</a></p><p dir="ltr"><a href="" target="_blank">M</a>etformin, insulin, and insulin<a href="" target="_blank"> s</a><a href="" target="_blank">ecretagogue</a>s do not alter HbA1c levels in glucokinase-maturity-onset diabetes of the young ...
Yilin Zhao, Yumin Ma, Tianhao Ba, Xueyao Han, Qian Ren, Linong Ji   +5 more
openaire   +3 more sources

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. [PDF]

European Journal of Endocrinology, 2008
ObjectiveActivating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known.MethodsFrom a pooled cohort of 201 non-syndromic children with CHI from three European referral centres (Denmark, n=141; Norway, n=26; UK, n=34), 108 children had no KATP-channel (ABCC8/KCNJ11)
Christesen, Henrik B T, Tribble, Nicholas D, Molven, Anders, Siddiqui, Juveria, Sandal, Tone, Brusgaard, Klaus, Ellard, Sian, Njølstad, Pål R, Alm, Jan, Brock Jacobsen, Bendt, Hussain, Khalid, Gloyn, Anna L   +11 more
openaire   +5 more sources

MODY2 in Asia: analysis of GCK mutations and clinical characteristics [PDF]

Endocrine Connections, 2020
Aims: Heterozygous inactivating mutations in the GCK gene cause the familial, mild fasting hyperglycaemia named MODY2. Many patients with MODY2 in Asia have delayed timely treatment because they did not receive the correct diagn osis.
Yuan Zhou, ShengNan Wang, Jing Wu, JianJun Dong, Lin Liao   +4 more
doaj   +3 more sources

Association of a homozygous GCK missense mutation with mild diabetes [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM).
Antonella Marucci, Tommaso Biagini, Rosa Di Paola, Claudia Menzaghi, Grazia Fini, Stefano Castellana, Giuliana Marcella Cardinale, Tommaso Mazza, Vincenzo Trischitta   +8 more
doaj   +4 more sources

Characteristics of Glycemic Variability in Patients with GCK-MODY

The Russian Archives of Internal Medicine, 2022
GCK-MODY is one of the most common MODY variants (40–60 %) in the European population. It is possible to use continuous glucose monitoring systems (CGMS) when diagnosing GCK-MODY which allows for an analysis of glucose variability (GV) using mathematical indices and a detailed assessment of the glycemic profile.
A. K. Ovsyannikova, M. V. Dudina, Yu. A. Dolinskaya, O. D. Rymar   +3 more
openaire   +3 more sources

Identification of GCK - Monogenic diabetes (GCK-MODY) in gestational diabetes subjects – diagnostic and treatment approach - literature review [PDF]

Medical Sciences
Background. Maturity-onset diabetes of the young (MODY) is an autosomal dominant diabetes caused by a single gene mutation, leading to early-onset pancreatic beta-cell dysfunction. Its non-specific symptoms often result in misdiagnosis.
Boguševičiūtė, Agnė,
openaire   +2 more sources

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes

Communications Medicine
Background Natural HbA1c levels in GCK Maturity-onset diabetes of the young (GCK-MODY) patients often sit above the diagnostic threshold for type 2 diabetes (T2D).
Kelly M. Schiabor Barrett, Natalie Telis, Lisa M. McEwen, Evanette K. Burrows, Basil Khuder, Daniel P. Judge, Pamala A. Pawloski, Joseph J. Grzymski, Nicole L. Washington, Alexandre Bolze, Elizabeth T. Cirulli   +10 more
doaj   +2 more sources

Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK‐MODY phenotype

Clinical Genetics, 2014
Heterozygous loss‐of‐function mutations in the glucokinase (GCK) gene cause maturity‐onset diabetes of the young (MODY) subtype GCK (GCK‐MODY/MODY2). GCK sequencing revealed 16 distinct mutations (13 missense, 1 nonsense, 1 splice site, and 1 frameshift‐deletion) co‐segregating with hyperglycaemia in 23 GCK‐MODY families. Four missense substitutions (c.
Costantini S, MALERBA, Giovanni, Contreas G, CORRADI, Massimiliano, Marin Vargas, Sergio Paul, GIORGETTI, ALEJANDRO, MAFFEIS, Claudio   +6 more
openaire   +4 more sources