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Items: 1 to 20 of 98

1.

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F.

Diabetes. 2002 Apr;51(4):1240-6.

2.

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.

3.

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.

Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R, Grimsby J, Matschinsky FM, Stanley CA.

Diabetes. 2009 Jun;58(6):1419-27. doi: 10.2337/db08-1792.

4.

[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
5.

High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F; Diabetes Study Group of the Italian Society of Paediatic Endocrinology and Diabetes (SIEDP)..

Diabetologia. 2001 Jul;44(7):898-905.

PMID:
11508276
6.

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.

PMID:
17976205
7.

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

Gloyn AL, Noordam K, Willemsen MA, Ellard S, Lam WW, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, Matschinsky FM, Hattersley AT.

Diabetes. 2003 Sep;52(9):2433-40.

8.

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

Davis EA, Cuesta-Muñoz A, Raoul M, Buettger C, Sweet I, Moates M, Magnuson MA, Matschinsky FM.

Diabetologia. 1999 Oct;42(10):1175-86.

PMID:
10525657
9.

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. Review.

PMID:
23890519
10.

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.

11.

Counterregulatory responses to hypoglycemia in patients with glucokinase gene mutations.

Guenat E, Seematter G, Philippe J, Temler E, Jequier E, Tappy L.

Diabetes Metab. 2000 Nov;26(5):377-84.

12.
13.

Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations.

Pino MF, Kim KA, Shelton KD, Lindner J, Odili S, Li C, Collins HW, Shiota M, Matschinsky FM, Magnuson MA.

J Biol Chem. 2007 May 4;282(18):13906-16.

14.
15.

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. Erratum in: Clin Endocrinol (Oxf). 2008 Jun;68(6):1011.

PMID:
18208578
16.

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.

17.

Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.

Rubio-Cabezas O, Díaz González F, Aragonés A, Argente J, Campos-Barros A.

Pediatr Diabetes. 2008 Jun;9(3 Pt 1):245-9. doi: 10.1111/j.1399-5448.2007.00361.x.

PMID:
18298419
18.

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.

PMID:
19053014
19.

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR, Sagen JV, Bjørkhaug L, Odili S, Shehadeh N, Bakry D, Sarici SU, Alpay F, Molnes J, Molven A, Søvik O, Matschinsky FM.

Diabetes. 2003 Nov;52(11):2854-60.

20.

The genetic abnormality in the beta cell determines the response to an oral glucose load.

Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njølstad PR, Hansen T, Costa A, Conget I, Pedersen O, Søvik O, Lorini R, Groop L, Froguel P, Hattersley AT.

Diabetologia. 2002 Mar;45(3):427-35.

PMID:
11914749

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