PubMed

Naturally Occurring Glucokinase Mutations Are Associated with Defects in Posttranslational S-Nitrosylation.

Ding SY, Tribble ND, Kraft CA, Markwardt M, Gloyn AL, Rizzo MA.

Mol Endocrinol. 2009 Nov 24. [Epub ahead of print]PMID: 19934346 [PubMed - as supplied by publisher]

Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes.

Pal A, Farmer AJ, Dudley C, Selwood MP, Barrow BA, Klyne R, Grew JP, McCarthy MI, Gloyn AL, Owen KR.

Diabetes Care. 2009 Nov 23. [Epub ahead of print]PMID: 19933992 [PubMed - as supplied by publisher]

RD Lawrence Lecture 2009 Old genes, new tricks: learning about blood glucose regulation from naturally occurring genetic variation in humans.

Gloyn AL.

Diabet Med. 2009 Nov;26(11):1083-9.PMID: 19929985 [PubMed - in process]

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.

Harries LW, Brown JE, Gloyn AL.

PLoS One. 2009 Nov 16;4(11):e7855.PMID: 19924231 [PubMed - in process]Related articlesFree article

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.PMID: 19790256 [PubMed - in process]Related articles

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Metabolism.

Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL.

Diabetes. 2009 Dec;58(12):2954-61. Epub 2009 Aug 31.PMID: 19720790 [PubMed - in process]Related articles

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.

Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL.

PLoS One. 2009 Aug 12;4(8):e6615.PMID: 19672314 [PubMed - in process]Related articlesFree article

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

Beer NL, Tribble ND, McCulloch LJ, Roos C, Johnson PR, Orho-Melander M, Gloyn AL.

Hum Mol Genet. 2009 Nov 1;18(21):4081-8. Epub 2009 Jul 30.PMID: 19643913 [PubMed - in process]Related articlesFree article

Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.

Hamming KS, Soliman D, Matemisz LC, Niazi O, Lang Y, Gloyn AL, Light PE.

Diabetes. 2009 Oct;58(10):2419-24. Epub 2009 Jul 8.PMID: 19587354 [PubMed - indexed for MEDLINE]Related articles

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.

Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL.

Diabetes. 2009 Aug;58(8):1929-35. Epub 2009 May 1.PMID: 19411616 [PubMed - indexed for MEDLINE]Related articlesFree article

Type 2 diabetes susceptibility gene TCF7L2 and its role in beta-cell function.

Gloyn AL, Braun M, Rorsman P.

Diabetes. 2009 Apr;58(4):800-2. No abstract available. PMID: 19336690 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction.

Edghill EL, McCulloch L, Fulton P, Beer N, Hattersley AT, Gloyn AL.

Diabet Med. 2009 Jan;26(1):113-4. No abstract available. PMID: 19125775 [PubMed - indexed for MEDLINE]Related articles

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, Holman RR.

Diabetologia. 2009 Jan;52(1):172-4. Epub 2008 Nov 11. No abstract available. PMID: 19002431 [PubMed - indexed for MEDLINE]Related articles

Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetes.

Gloyn AL, McCarthy MI.

Diabet Med. 2008 Aug;25 Suppl 2:35-40. Review.PMID: 18717977 [PubMed - indexed for MEDLINE]Related articles

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.

Hum Mutat. 2009 Feb;30(2):170-80. Review.PMID: 18767144 [PubMed - indexed for MEDLINE]Related articles

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.

Turkkahraman D, Bircan I, Tribble ND, Akçurin S, Ellard S, Gloyn AL.

J Pediatr. 2008 Jul;153(1):122-6. Epub 2008 Mar 6.PMID: 18571549 [PubMed - indexed for MEDLINE]Related articles

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.

Gloyn AL, Tribble ND, van de Bunt M, Barrett A, Johnson PR.

Biochem Soc Trans. 2008 Jun;36(Pt 3):306-11.PMID: 18481947 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 May 1.PMID: 18450771 [PubMed - indexed for MEDLINE]Related articlesFree article

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.

van de Bunt M, Edghill EL, Hussain K, Ellard S, Gloyn AL.

Mol Genet Metab. 2008 Jun;94(2):268-9. Epub 2008 Mar 5. No abstract available. PMID: 18325809 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka.

Katulanda P, Groves CJ, Barrett A, Sheriff R, Matthews DR, McCarthy MI, Gloyn AL.

Diabet Med. 2008 Mar;25(3):370-4. Epub 2008 Feb 13.PMID: 18279408 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.

Minton JA, van de Bunt M, Boustred C, Hussain K, Hattersley AT, Ellard S, Gloyn AL.

Diabetologia. 2007 Sep;50(9):2019-22. Epub 2007 Jul 6. No abstract available. PMID: 17618412 [PubMed - indexed for MEDLINE]Related articles

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT.

Diabetes. 2007 Jul;56(7):1930-7. Epub 2007 Apr 19. Erratum in: Diabetes. 2008 Feb;57(2):523. PMID: 17446535 [PubMed - indexed for MEDLINE]Related articlesFree article

Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.

Arden C, Trainer A, de la Iglesia N, Scougall KT, Gloyn AL, Lange AJ, Shaw JA, Matschinsky FM, Agius L.

Diabetes. 2007 Jul;56(7):1773-82. Epub 2007 Mar 27.PMID: 17389332 [PubMed - indexed for MEDLINE]Related articlesFree article

Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.

Barber TM, Bennett AJ, Gloyn AL, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Weedon MN, Hartikainen AL, Wass JA, Järvelin MR, Zeggini E, Franks S, McCarthy MI.

Eur J Hum Genet. 2007 Jun;15(6):679-84. Epub 2007 Mar 7.PMID: 17342155 [PubMed - indexed for MEDLINE]Related articlesFree article

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, Rankin J, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2007 May;92(5):1773-7. Epub 2007 Feb 27.PMID: 17327377 [PubMed - indexed for MEDLINE]Related articlesFree article

Asian MODY: are we missing an important diagnosis?

Porter JR, Rangasami JJ, Ellard S, Gloyn AL, Shields BM, Edwards J, Anderson JM, Shaw NJ, Hattersley AT, Frayling TM, Plunkett M, Barrett TG.

Diabet Med. 2006 Nov;23(11):1257-60.PMID: 17054605 [PubMed - indexed for MEDLINE]Related articles

Defining the genetic aetiology of monogenic diabetes can improve treatment.

Gloyn AL, Ellard S.

Expert Opin Pharmacother. 2006 Sep;7(13):1759-67. Review.PMID: 16925503 [PubMed - indexed for MEDLINE]Related articles

Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach.

Gloyn AL, Mackay DJ, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM.

Diabetes. 2006 Aug;55(8):2272-6.PMID: 16873690 [PubMed - indexed for MEDLINE]Related articlesFree article

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.

Eur J Hum Genet. 2006 Jul;14(7):824-30. Epub 2006 May 3.PMID: 16670688 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.

Diabetologia. 2006 Jun;49(6):1190-7. Epub 2006 Apr 12.PMID: 16609879 [PubMed - indexed for MEDLINE]Related articles

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL, Siddiqui J, Ellard S.

Hum Mutat. 2006 Mar;27(3):220-31. Review.PMID: 16416420 [PubMed - indexed for MEDLINE]Related articles

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MS, Ashcroft FM.

EMBO Rep. 2005 May;6(5):470-5.PMID: 15864298 [PubMed - indexed for MEDLINE]Related articlesFree article

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT.

Hum Mol Genet. 2005 Apr 1;14(7):925-34. Epub 2005 Feb 17.PMID: 15718250 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 15677479 [PubMed - indexed for MEDLINE]Related articlesFree article

Permanent neonatal diabetes in an Asian infant.

Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL.

J Pediatr. 2005 Jan;146(1):131-3. Review.PMID: 15644838 [PubMed - indexed for MEDLINE]Related articles

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.

Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. Epub 2004 Dec 6.PMID: 15583126 [PubMed - indexed for MEDLINE]Related articlesFree article

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Hum Mutat. 2005 Jan;25(1):22-7.PMID: 15580558 [PubMed - indexed for MEDLINE]Related articles

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS.

Nat Genet. 2004 Dec;36(12):1301-5. Epub 2004 Nov 14.PMID: 15543146 [PubMed - indexed for MEDLINE]Related articles

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.

Diabetes. 2004 Nov;53(11):2998-3001.PMID: 15504982 [PubMed - indexed for MEDLINE]Related articlesFree article

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

Vaxillaire M, Populaire C, Busiah K, Cavé H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M.

Diabetes. 2004 Oct;53(10):2719-22.PMID: 15448107 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Diabetes. 2004 Oct;53(10):2713-8.PMID: 15448106 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5.PMID: 15292329 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

N Engl J Med. 2004 Apr 29;350(18):1838-49. Erratum in: N Engl J Med. 2004 Sep 30;351(14):1470. PMID: 15115830 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetics for Endocrinologists: The Molecular Genetic Basis of Endocrine Disorders.

McCarthy MI, Gloyn AL.

Clin Endocrinol (Oxf). 2003 Dec;59(6):826. No abstract available. PMID: 14974932 [PubMed - as supplied by publisher]Related articles

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.

Hum Mutat. 2003 Nov;22(5):417.PMID: 14517956 [PubMed - indexed for MEDLINE]Related articles

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL.

Hum Mutat. 2003 Nov;22(5):353-62. Review.PMID: 14517946 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 12941786 [PubMed - indexed for MEDLINE]Related articlesFree article

Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.

Weedon MN, Gloyn AL, Frayling TM, Hattersley AT, Davey Smith G, Ben-Shlomo Y.

Diabetologia. 2003 Jul;46(7):1021-3. Epub 2003 Jun 18. No abstract available. PMID: 12819904 [PubMed - indexed for MEDLINE]Related articles

The search for type 2 diabetes genes.

Gloyn AL.

Ageing Res Rev. 2003 Apr;2(2):111-27. Review.PMID: 12605956 [PubMed - indexed for MEDLINE]Related articles