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Our results suggest that the polymorphism of CYP3A4 *18B and GCK G-30A might affect the new-onset diabetes after transplantation (NODAT) development under tacrolimus-based immunotherapy. We suspect that the depression of GCK function may be a crucial pathogenic factor of tacrolimus-induced NODAT in variant carrier with A allele of GCK, but not be simply reflecting of glucose change.
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Data suggest that the following genetic modifications are involved in neonatal diabetes mellitus patients in Oman: (1) mutation in KCNJ11 (potassium voltage-gated channel subfamily J member 11; one patient); (2) mutation in GCK (glucokinase); (3) mutation in SLC2A2 (glucose transporter type 2); (4) chromosome 6q24 methylation abnormalities.
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GCK gene mutations were detected in Chinese children and their family members with typical clinical features of glucokinase-maturity-onset diabetes of the young. Four novel mutations were detected.
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The studies screening criteria allowed for the identification of glucokinase (GCK)-deficient patients who were diagnosed with gestational diabetes, and these mutations in the GCK gene were not common in Chinese women with gestational diabetes.
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Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase.
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44 different mutations affecting the GCK and co-segregating with the clinical phenotype of MODY were identified.
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Twenty-five different variants were identified in GCK gene (30 probands-61% of positivity), and 7 variants in HNF1A (10 probands-17% of positivity). Fourteen of them were novel (12- GCK /2- HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%- GCK /86%- HNF1A ) and likely pathogenic (44%- GCK /14%- HNF1A ), with 16% (5/32) as uncertain significance.
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a nuclear import of glucokinase mediated by a redundant mechanism, involving a nuclear localization signal, and which is modulated by its SUMOylation, is reported.
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La variante confirmada of the glucokinase gene para esta familia es c.148C>T, p.His50Tyr. Tiene caracter patogenico, dado que produce una disminucion de la actividad enzimatica de GCK y ha sido reportada en la literatura
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described the clinical and genetic presentation of four families with activating GCK mutations The clinical phenotype of the GCK activating mutation carriers was heterogeneous, the severity of symptoms and age at presentation varied markedly between affected individuals, even within the same family.
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the contribution of the Maturity Onset Diabetes of the Young gene GCK in the etiology of 23 unrelated Tunisian families
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GCK-dependent glycolysis regulates Treg cell migration.
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Mutations in the GCK gene were identified in 79 out of 177.
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GCK GCK GCK GCK
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GCK gene mutations (pathogenic or likely pathogenic variants) and a novel intronic variant of uncertain significance (c.208 + 3A>T) were identified in 13/54 probands (24%).
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Data suggest that hepatic glucokinase activity is regulated by reversible binding to specific inhibitor protein glucokinase regulatory protein (GKRP) and by binding to activator proteins such as 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase (PFK2/FBP2); changes in glucokinase expression and activity are associated with poorly controlled type 2 diabetes and nonalcoholic fatty liver disease. [REVIEW]
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GCK expression is regulated by nutrient-sensing O-linked beta-N-acetylglucosaminylation cycling in liver.
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GCK mutations are associated with MODY2.
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Glucokinase mutations are associated with Maturity-Onset Diabetes of the Young.
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The results show that p.Leu77Arg but not p.Val101Met GCK mutation is considered a pathogenic mutation associated with maturity onset diabetes of the young.
