PubMed

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes.

Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT.

Diabet Med. 2009 Oct;26(10):1070-4.PMID: 19900242 [PubMed - in process]Related articles

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. Epub 2009 Oct 16.PMID: 19837917 [PubMed - in process]Related articlesFree article

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

Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.

Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RC, Buckley MF, Hussain K, Ellard S, Attersley AT.

JOP. 2009 Jul 6;10(4):457-8. No abstract available. PMID: 19581757 [PubMed - indexed for MEDLINE]Related articlesFree article

Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.

Abdul-Rahman OA, Edghill EL, Kwan A, Enns GM, Hattersley AT.

J Pediatr Hematol Oncol. 2009 Jul;31(7):527-9.PMID: 19564751 [PubMed - indexed for MEDLINE]Related articles

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2009 May;20(5):1123-31. Epub 2009 Apr 23.PMID: 19389850 [PubMed - indexed for MEDLINE]Related articles

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

Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL.

JOP. 2008 Nov 3;9(6):715-8.PMID: 18981553 [PubMed - indexed for MEDLINE]Related articlesFree article

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.

Thomas CP, Erlandson JC, Edghill EL, Hattersley AT, Stolpen AH.

Kidney Int. 2008 Oct;74(8):1094-9. Epub 2008 Jun 4. No abstract available. PMID: 18528323 [PubMed - indexed for MEDLINE]Related articles

Transcription factor HNF1beta and novel partners affect nephrogenesis.

Dudziak K, Mottalebi N, Senkel S, Edghill EL, Rosengarten S, Roose M, Bingham C, Ellard S, Ryffel GU.

Kidney Int. 2008 Jul;74(2):210-7. Epub 2008 Apr 16.PMID: 18418350 [PubMed - indexed for MEDLINE]Related articles

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.

Murray PJ, Thomas K, Mulgrew CJ, Ellard S, Edghill EL, Bingham C.

Nephrol Dial Transplant. 2008 Jul;23(7):2412-5. Epub 2008 Apr 14. No abstract available. PMID: 18411231 [PubMed - indexed for MEDLINE]Related articles

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

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.PMID: 18162506 [PubMed - indexed for MEDLINE]Related articlesFree article

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C.

Nephrol Dial Transplant. 2008 Feb;23(2):627-35. Epub 2007 Oct 30.PMID: 17971380 [PubMed - indexed for MEDLINE]Related articles

Insulin gene mutations as a cause of permanent neonatal diabetes.

Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. Epub 2007 Sep 12.PMID: 17855560 [PubMed - indexed for MEDLINE]Related articlesFree article

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT.

Diabetologia. 2007 Nov;50(11):2313-7. Epub 2007 Sep 8.PMID: 17828387 [PubMed - indexed for MEDLINE]Related articles

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM.

Am J Hum Genet. 2007 Aug;81(2):375-82. Epub 2007 Jun 29.PMID: 17668386 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion.

Eller P, Kaser S, Lhotta K, Edghill EL, Ellard S, Ebenbichler C, Patsch JR.

Nephrol Dial Transplant. 2007 Apr;22(4):1271-2. Epub 2006 Nov 24. No abstract available. PMID: 17127696 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT.

Diabet Med. 2006 Dec;23(12):1301-6.PMID: 17116179 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred.

Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, Rigden S, Flinter FA, Woolf AS.

Nephrol Dial Transplant. 2007 Jan;22(1):259-63. Epub 2006 Sep 23. No abstract available. PMID: 16998226 [PubMed - indexed for MEDLINE]Related articlesFree article

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months.

Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM.

Diabetes. 2006 Jun;55(6):1895-8.PMID: 16731860 [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 hepatocyte nuclear factor-1beta and their related phenotypes.

Edghill EL, Bingham C, Ellard S, Hattersley AT.

J Med Genet. 2006 Jan;43(1):84-90. Epub 2005 Jun 1.PMID: 15930087 [PubMed - indexed for MEDLINE]Related articlesFree article

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.

Klupa T, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT, Malecki MT.

Diabetologia. 2005 May;48(5):1029-31. Epub 2005 Apr 19. No abstract available. PMID: 15838686 [PubMed - indexed for MEDLINE]Related articles

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

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

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

Structure of the C-terminal RING finger from a RING-IBR-RING/TRIAD motif reveals a novel zinc-binding domain distinct from a RING.

Capili AD, Edghill EL, Wu K, Borden KL.

J Mol Biol. 2004 Jul 23;340(5):1117-29.PMID: 15236971 [PubMed - indexed for MEDLINE]Related articles

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