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Monogenic genetic analysis has led to improved patient care.

Molecular Genetics, Monogenic - Publications list

  1. Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS.
    Linkage of type 2 diabetes to the glucokinase gene.
    Lancet 1992;30: 1307-10
    248 Citations
  2. Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S.
    Mutations in the glucokinase gene of the fetus result in reduced birth weight.
    Nat Genet 1998;19:268-70.
    286 citations
  3. Hattersley AT, Tooke JE.
    The fetal insulin hypothesis: an alternative explanation of the association of low birthweight with diabetes and vascular disease.
    Lancet 1999;22:1789-92
    449 citations
  4. Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT.
    Mutations in the Hepatocyte Nuclear Factor-1beta Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease.
    Am J Hum Genet 2001;68:219-224
    116 citations
  5. Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, Hattersley AT. A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young.
    Hum Mol Genet 2001;15:2089-97.
    125 citations
  6. Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT.
    Genetic cause of hyperglycaemia and response to treatment in diabetes.
    Lancet 2003;362:1275-81.
    150 citations
  7. Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003;52:568-72.
    345 citations
  8. 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, Njolstad PR, Ashcroft FM, Hattersley AT.
    Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
    N Engl J Med 2004;350: 1838-49
    419 citations
  9. 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.
    Relapsing diabetes can result from moderately activating mutations in KCNJ11.
    Hum Mol Genet 2005;1:925-34.
    97 citations
  10. Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvänen AC, Leon D, Hattersley AT.
    Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.
    Diabetes. 2005 Feb;54(2):576-81
    68 citations
  11. Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.
    A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
    Hum Mol Genet 2006;1:1793-800.
    93 citations
  12. Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ.
    Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
    Diabetologia. 2006;49(11):2559-63.
    39 Citations
  13. Edghill EL, Bingham C, Ellard S, Hattersley AT.
    Mutations in Hepatocyte nuclear factor-1beta and their related phenotypes.
    J Med Genet. 2006;43(1):84-90
    95 Citations
  14. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B,Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ,Holst JJ, Clark PM, Neonatal Diabetes International Collaborative Group, Ellard S, Sovik O, Polak M, Hattersley AT.
    Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
    N Engl J Med 2006;3:467-77
    235 citations
  15. Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT.
    Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.
    Diabet Med. 2006 Dec;23(12):1301-6
    41 citations
  16. Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS; Wellcome Trust Case Control Consortium (WTCCC), Paterson J, Pichert G, Porteous M, Rahman N, Rogers M, Rowe S, Shanley S, Saggar A, Scott G, Side L, Snadden L, Steel M, Thomas M, Thomas S, McCarthy MI*, Hattersley AT*(*Joint corresponding authors).
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    Science 2007;1:1336-41
    1051 citations
  17. Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Smith GD, Hattersley AT*, McCarthy MI*. (*Joint corresponding authors).
    A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.
    Science 2007;11:889-94.
    1211 citations
  18. Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT.
    Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
    PLoS Med 2007;4: e118.
    85 citations
  19. Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP,Temple K, Ellard S, Hattersley AT.
    Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
    Diabetes. 2007 Jul;56(7):1930-7
    99 citations
  20. Rafiq M, Flanagan SE, Patch AM, Shields BM, Neonatal Diabetes International Collaborative Group Ellard S, Hattersley
    AT.
    Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
    Diabetes Care. 2008 Feb;31(2):204-9.
    55 citations
  21. Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, Perry JR, Pouta A, Ruokonen A, Hyppönen E, Power, C, Elliott P, Strachan DP, Järvelin MR, Smith GD, McCarthy MI, Frayling TM, Hattersley AT.
    Type 2 diabetes risk alleles are associated with reduced size at birth.
    Diabetes. 2009 Jun;58(6):1428-33
    51 citations
  22. Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group, Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, de Nanclares GP, Hattersley AT.
    Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
    Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10.
    31 Citations
  23. Rubio-Cabezas O, Minton JA, Kantor I, Williams D, Ellard S, Hattersley AT.
    Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.
    Diabetes. 2010 Sep;59(9):2326-31
    14 citations
  24. Rubio-Cabezas O, Jensen JN, Hodgson MI, Codner E, Ellard S, Serup P, Hattersley AT. Permanent Neonatal Diabetes and Enteric Anendocrinosis associated with biallelic mutations in NEUROG3.
    Diabetes. 2011 Apr;60(4):1349-53
    9 citations
  25. Lango Allen H, Flanagan S, Shaw-Smith C, De Franco E, Akerman I, Caswell R, the International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, S Ellard (2011)
    GATA6 haploinsufficiency causes pancreatic agenesis in humans.
    Nat. Genet. 2012 44(1) 20-22
    3 citations