Gloyn AL - Search Results

1

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. Beer NL, et al. Among authors: gloyn al. J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29. J Biol Chem. 2011. PMID: 21454522 Free PMC article.

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

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT. Gloyn AL, et al. Diabetes. 2002 Jul;51(7):2329-33. doi: 10.2337/diabetes.51.7.2329. Diabetes. 2002. PMID: 12086970

4

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

5

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.

6

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

7

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.

8

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

9

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

10

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.

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