Results 171 to 180 of about 12,946 (215)

Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.

J Clin Endocrinol Metab
Boodhansingh KE, Lord K, Sigal W, Benjet JE, Chen P, Juliana CA, Mitteer L, Bhatti T, Stanley CA, De Leon DD, Ganguly A.   +10 more
europepmc   +1 more source

Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes

Molecular and Cellular Biochemistry, 2022
Precise differentiation of glucokinase (GCK) monogenic diabetes from gestational diabetes mellitus (GDM) is critical for accurate management of the pregnancy outcome.
Qingkai Wu, Limei Liu
exaly   +2 more sources

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GCK mutants

2023
Sanger sequencing of three patients with GCK ...
openaire   +1 more source

A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype

Diabetes Research and Clinical Practice, 2011
GCK gene analysis in an Italian MODY patient revealed a novel synonymous substitution in exon 4 (c.459T>G; p.Pro153Pro) resulting in an aberrant transcript lacking the last eight codons of the same exon. Our findings emphazise the importance of not underestimating synonymous variations when screening for disease-causing mutations.
COSTANTINI, Silvia, PRANDINI, PAOLA, CORRADI, Massimiliano, PASQUALI, Alessandra, CONTREAS, Giovanna, PIGNATTI, Pierfranco, PINELLI, Leonardo, TRABETTI, Elisabetta, MAFFEIS, Claudio   +8 more
openaire   +3 more sources

Insights into pathogenesis of five novel GCK mutations identified in Chinese MODY patients [PDF]

Metabolism: Clinical and Experimental, 2018
Objective Heterozygous inactivating mutations in GCK are associated with defects in pancreatic insulin secretion and/or hepatic glycogen synthesis leading to mild chronic hyperglycemia of maturity onset diabetes of young type 2 (MODY2).
Limei Liu, Jun Yin
exaly   +2 more sources

MODY2 caused by a novel mutation of GCK gene

Journal of Pediatric Endocrinology and Metabolism, 2012
Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene and is characterized by mild noninsulin-dependent fasting hyperglycemia. It is treated with diet only, and complications are extremely rare. We present a report of a family with MODY2
Kerti, Pulst, Triin, Arbo, Tiina, Kahre, Aleksandr, Peet, Vallo, Tillmann   +4 more
openaire   +2 more sources

GCK-MODY in a child with cystic fibrosis: the doubt of the treatment plan

Journal of Pediatric Endocrinology and Metabolism, 2020
Abstract Objectives The diagnosis of cystic fibrosis related diabetes (CFRD) is not often easy as glucose homeostasis may be influenced by various disease-related conditions such as enteral continuous drip feeding, frequent acute illness, use of systemic corticosteroids and other concomitant ...
Salzano G., Passanisi S., Lucanto M. C., Costa S., Pajno G. B., Lombardo F.   +5 more
openaire   +3 more sources

A novel genetic mutation in a Portuguese family with GCK-MODY

Journal of Pediatric Endocrinology and Metabolism, 2014
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous form of diabetes mellitus, with autosomal dominant inheritance. It accounts for 2%-5% of all diabetes cases. Glucokinase-MODY is the second most frequent form, which has been shown to be the result of mutations in the glucokinase (GCK) gene.
Cláudia, Almeida, Sónia Regina, Silva, Elsa, Garcia, Ana Luísa, Leite, Andreia, Teles, Rosa Arménia, Campos   +5 more
openaire   +2 more sources

Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection

Frontiers in Medicine
BackgroundMutations in the GCK gene cause Maturity Onset Diabetes of the Young (GCK-MODY) by impairing glucose-sensing in pancreatic beta cells. During pregnancy, managing this type of diabetes varies based on fetal genotype. Fetuses carrying a GCK mutation can derive benefit from moderate maternal hyperglycemia, stimulating insulin secretion in fetal ...
Marc Abramowicz, Thierry Nouspikel
exaly   +5 more sources