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Year Number of Results
1980 3
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1993 7
1994 6
1995 6
1996 5
1997 13
1998 6
1999 10
2000 15
2001 14
2002 16
2003 20
2004 16
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2006 36
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2009 64
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1,577 results

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Page 1
Clinical implications of the glucokinase impaired function - GCK MODY today.
Hulín J, Škopková M, Valkovičová T, Mikulajová S, Rosoľanková M, Papcun P, Gašperíková D, Staník J. Hulín J, et al. Physiol Res. 2020 Dec 22;69(6):995-1011. doi: 10.33549/physiolres.934487. Epub 2020 Nov 2. Physiol Res. 2020. PMID: 33129248 Free PMC article. Review.
Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the Young (MODY). ...Despite the mild clinical course, GCK-MODY could be misdiagnosed as type 1 or type 2 di …
Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Ma …
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.
The relative risk of diabetes was similar across the clinically unselected cohorts highlighting the role of environment/other genetic factors. Surprisingly, the penetrance of pathogenic GCK variants was similar across all cohorts (89%-97%). We highlight that pathogenic var …
The relative risk of diabetes was similar across the clinically unselected cohorts highlighting the role of environment/other genetic factor …
MODY2 in Asia: analysis of GCK mutations and clinical characteristics.
Zhou Y, Wang S, Wu J, Dong J, Liao L. Zhou Y, et al. Endocr Connect. 2020 May;9(5):471-478. doi: 10.1530/EC-20-0074. Endocr Connect. 2020. PMID: 32375122 Free PMC article.
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 diagnosis. This study aims to analyze the clinical …
AIMS: Heterozygous inactivating mutations in the GCK gene cause the familial, mild fasting hyperglycaemia named MODY2. Many patients …
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL. Osbak KK, et al. Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Hum Mutat. 2009. PMID: 19790256 Review.
Given its central role in the regulation of insulin release it is understandable that mutations in the gene encoding glucokinase (GCK) can cause both hyper- and hypoglycemia. Heterozygous inactivating mutations in GCK cause maturity-onset diabetes of the young (MODY …
Given its central role in the regulation of insulin release it is understandable that mutations in the gene encoding glucokinase (GCK …
GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.
Ping Xiao Y, Hua Xu X, Lan Fang Y, Jiang L, Chen C, Liang L, Lin Wang C. Ping Xiao Y, et al. J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):959-64. doi: 10.1515/jpem-2015-0354. J Pediatr Endocrinol Metab. 2016. PMID: 27269892 Review.
BACKGROUND: Maturity-onset diabetes of the young type 2 (MODY2) is caused by mutations in the glucokinase (GCK) gene and is rare in the Chinese population. We report three Chinese families with MODY2 and the sequencing of the GCK gene. ...CONCLUSIONS: The thorough i …
BACKGROUND: Maturity-onset diabetes of the young type 2 (MODY2) is caused by mutations in the glucokinase (GCK) gene and is rare in t …
Partial GCK gene deletion mutations causing maturity-onset diabetes of the young.
Yu R, Zhang H, Xiao X. Yu R, et al. Acta Diabetol. 2024 Jan;61(1):107-115. doi: 10.1007/s00592-023-02173-1. Epub 2023 Sep 13. Acta Diabetol. 2024. PMID: 37704826 Review.
Additionally, we reviewed the previously reported cases caused by heterozygous exon deletion of the GCK gene. RESULTS: WES-based CNV detection revealed a heterozygous exon 8-10 deletion in the GCK gene within this particular pedigree after Sanger sequencing and WES …
Additionally, we reviewed the previously reported cases caused by heterozygous exon deletion of the GCK gene. RESULTS: WES-based CNV …
Maternal and Infant Outcomes in GCK-MODY Complicated by Pregnancy.
Ren Q, Wang Z, Yang W, Han X, Ji L. Ren Q, et al. J Clin Endocrinol Metab. 2023 Sep 18;108(10):2739-2746. doi: 10.1210/clinem/dgad188. J Clin Endocrinol Metab. 2023. PMID: 37011183
Five were of high quality and 3 were of medium quality evaluated by NOS. A total of 257 GCK-MODY mothers and 499 offspring were enrolled. Among them, 370 offspring were divided into 2 groups: GCK-affected offspring (GCK+, n = 238) and GCK-unaffected of …
Five were of high quality and 3 were of medium quality evaluated by NOS. A total of 257 GCK-MODY mothers and 499 offspring were enrol …
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL. Gloyn AL. Hum Mutat. 2003 Nov;22(5):353-62. doi: 10.1002/humu.10277. Hum Mutat. 2003. PMID: 14517946 Review.
Homozygous inactivating GCK mutations result in a more severe phenotype, presenting at birth as permanent neonatal diabetes mellitus (PNDM). Several heterozygous activating GCK mutations that cause hypoglycemia have also been reported. A total of 195 mutations in th …
Homozygous inactivating GCK mutations result in a more severe phenotype, presenting at birth as permanent neonatal diabetes mellitus …
GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY.
Dai T, Yang Y, Zhang J, Ma X, Chen L, Zhang C, Lv S, Li L, Tang R, Zhen N, Lu W, Li C, Hu R, Xiao Y, Dong Z. Dai T, et al. Front Genet. 2023 Apr 4;14:1120153. doi: 10.3389/fgene.2023.1120153. eCollection 2023. Front Genet. 2023. PMID: 37082200 Free PMC article.
The biochemical characteristics of the protein encoded by wild-type GCK and mutant GCK were different, compared to wild-type GCK, the enzyme activity encoded by the mutant GCK was reduced, suggesting thermal instability of the mutant GST-GCK. .. …
The biochemical characteristics of the protein encoded by wild-type GCK and mutant GCK were different, compared to wild-type …
The GCK II and III subfamilies of the STE20 group kinases.
Pombo CM, Force T, Kyriakis J, Nogueira E, Fidalgo M, Zalvide J. Pombo CM, et al. Front Biosci. 2007 Jan 1;12:850-9. doi: 10.2741/2107. Front Biosci. 2007. PMID: 17127342 Review.
In this review we will focus on two subfamilies of the group, GCK-II and GCK-III, families that are closely related but, again, unique in their structural features and biological functions. ...
In this review we will focus on two subfamilies of the group, GCK-II and GCK-III, families that are closely related but, again …
1,577 results