Gloyn AL - Search Results

1

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. Christesen HB, et al. Among authors: gloyn al. Eur J Endocrinol. 2008 Jul;159(1):27-34. doi: 10.1530/EJE-08-0203. Epub 2008 May 1. Eur J Endocrinol. 2008. PMID: 18450771

2

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJ, Polak M, Barrett T, Hattersley AT. Gloyn AL, et al. Diabetologia. 2002 Feb;45(2):290. doi: 10.1007/s00125-001-0746-9. Diabetologia. 2002. PMID: 11942315 No abstract available.

3

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. Gloyn AL, et al. Diabetes. 2003 Sep;52(9):2433-40. doi: 10.2337/diabetes.52.9.2433. Diabetes. 2003. PMID: 12941786

4

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S. Thomson KL, et al. Among authors: gloyn al. Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9186. Hum Mutat. 2003. PMID: 14517956

5

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. Gloyn AL, et al. N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922. N Engl J Med. 2004. PMID: 15115830 Free article.

6

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S. Gloyn AL, et al. J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5. doi: 10.1210/jc.2004-0568. J Clin Endocrinol Metab. 2004. PMID: 15292329

7

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR. Sagen JV, et al. Among authors: gloyn al. Diabetes. 2004 Oct;53(10):2713-8. doi: 10.2337/diabetes.53.10.2713. Diabetes. 2004. PMID: 15448106

8

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT. Edghill EL, et al. Among authors: gloyn al. Diabetes. 2004 Nov;53(11):2998-3001. doi: 10.2337/diabetes.53.11.2998. Diabetes. 2004. PMID: 15504982

9

Permanent neonatal diabetes in an Asian infant.

Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL. Porter JR, et al. Among authors: gloyn al. J Pediatr. 2005 Jan;146(1):131-3. doi: 10.1016/j.jpeds.2004.09.008. J Pediatr. 2005. PMID: 15644838 Review.

10

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. Gloyn AL, et al. J Biol Chem. 2005 Apr 8;280(14):14105-13. doi: 10.1074/jbc.M413146200. Epub 2005 Jan 25. J Biol Chem. 2005. PMID: 15677479 Free article.

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