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Items: 1 to 20 of 132

1.

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.

Challis BG, Harris J, Sleigh A, Isaac I, Orme SM, Seevaratnam N, Dhatariya K, Simpson HL, Semple RK.

Clin Endocrinol (Oxf). 2014 Dec;81(6):855-61. doi: 10.1111/cen.12517. Epub 2014 Jul 2.

2.

Non-insulinoma persistent hyperinsulinaemic hypoglycaemia caused by an activating glucokinase mutation: hypoglycaemia unawareness and attacks.

Christesen HB, Brusgaard K, Beck Nielsen H, Brock Jacobsen B.

Clin Endocrinol (Oxf). 2008 May;68(5):747-55. doi: 10.1111/j.1365-2265.2008.03184.x. Epub 2008 Jan 15. Erratum in: Clin Endocrinol (Oxf). 2008 Jun;68(6):1011.

PMID:
18208578
3.

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL.

Diabet Med. 2007 Dec;24(12):1393-9. Epub 2007 Nov 1.

PMID:
17976205
4.

A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs.

Shammas C, Neocleous V, Phelan MM, Lian LY, Skordis N, Phylactou LA.

Metabolism. 2013 Nov;62(11):1535-42. doi: 10.1016/j.metabol.2013.06.007. Epub 2013 Jul 24. Review.

PMID:
23890519
5.

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Barbetti F, Cobo-Vuilleumier N, Dionisi-Vici C, Toni S, Ciampalini P, Massa O, Rodriguez-Bada P, Colombo C, Lenzi L, Garcia-Gimeno MA, Bermudez-Silva FJ, Rodriguez de Fonseca F, Banin P, Aledo JC, Baixeras E, Sanz P, Cuesta-Muñoz AL.

Mol Endocrinol. 2009 Dec;23(12):1983-9. doi: 10.1210/me.2009-0094. Epub 2009 Nov 2.

6.

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.

Borowiec M, Mysliwiec M, Fendler W, Antosik K, Brandt A, Malecki M, Mlynarski W.

Acta Diabetol. 2011 Sep;48(3):203-8. doi: 10.1007/s00592-011-0279-8. Epub 2011 Mar 25.

7.

Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.

Stanik J, Kusekova M, Huckova M, Valentinova L, Masindova I, Stanikova D, Ferenczova J, Gasperikova D, Klimes I.

Endocr Regul. 2012 Apr;46(2):99-105.

PMID:
22540858
8.

Hepatic glucokinase expression is associated with lipogenesis and fatty liver in humans.

Peter A, Stefan N, Cegan A, Walenta M, Wagner S, Königsrainer A, Königsrainer I, Machicao F, Schick F, Häring HU, Schleicher E.

J Clin Endocrinol Metab. 2011 Jul;96(7):E1126-30. doi: 10.1210/jc.2010-2017. Epub 2011 Apr 13.

PMID:
21490074
9.

Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.

Martínez R, Gutierrez-Nogués Á, Fernández-Ramos C, Velayos T, Vela A; Spanish Congenital Hyperinsulinism Group, Navas MÁ, Castaño L.

Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.

PMID:
28247534
10.

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, López-Enriquez S, García-Gimeno MA, Sanz P, Soriguer FC, Laakso M.

Diabetes. 2004 Aug;53(8):2164-8.

11.

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

Christesen HB, Tribble ND, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njølstad PR, Alm J, Brock Jacobsen B, Hussain K, Gloyn AL.

Eur J Endocrinol. 2008 Jul;159(1):27-34. doi: 10.1530/EJE-08-0203. Epub 2008 May 1.

12.

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.

Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT.

Diabetes. 2001 Feb;50 Suppl 1:S101-7.

14.

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.

Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Review.

PMID:
19790256
15.

Diagnostic difficulties in glucokinase hyperinsulinism.

Meissner T, Marquard J, Cobo-Vuilleumier N, Maringa M, Rodríguez-Bada P, García-Gimeno MA, Baixeras E, Weber J, Olek K, Sanz P, Mayatepek E, Cuesta-Muñoz AL.

Horm Metab Res. 2009 Apr;41(4):320-6. doi: 10.1055/s-0028-1102922. Epub 2008 Dec 3.

PMID:
19053014
16.

[Maturity-onset diabetes of the young 2 with a novel mutation of glucokinase gene in a Chinese boy and the clinical follow-up].

Li X, Liu L, Liang C, Sheng H, Zhao X.

Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):867-71. Chinese.

PMID:
25582477
17.

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

Beer NL, van de Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL.

J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29.

18.

Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies.

Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, Hattersley AT, Shields BM.

PLoS One. 2013 Jun 14;8(6):e65326. doi: 10.1371/journal.pone.0065326. Print 2013.

19.

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HA, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM.

J Biol Chem. 2005 Apr 8;280(14):14105-13. Epub 2005 Jan 25.

20.

Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor.

Murphy R, Tura A, Clark PM, Holst JJ, Mari A, Hattersley AT.

Diabetologia. 2009 Jan;52(1):154-9. doi: 10.1007/s00125-008-1183-9. Epub 2008 Oct 31.

PMID:
18974968

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