PubMed

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I.

Diabetes Care. 2008 Sep;31(9):1736-7. Epub 2008 Jun 12.PMID: 18556340 [PubMed - indexed for MEDLINE]Related articlesFree article

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L.

Diabet Med. 2007 Jul;24(7):707-13. Epub 2007 May 8.PMID: 17490422 [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

Molecular basis of neonatal diabetes in Japanese patients.

Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K.

J Clin Endocrinol Metab. 2007 Oct;92(10):3979-85. Epub 2007 Jul 17. Erratum in: J Clin Endocrinol Metab. 2008 Jan;93(1):153. PMID: 17635943 [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

[Neonatal diabetes mellitus]

Gurgel LC, Moisés RS.

Arq Bras Endocrinol Metabol. 2008 Mar;52(2):181-7. Review. Portuguese. PMID: 18438528 [PubMed - indexed for MEDLINE]Related articlesFree article

Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.

Bremer AA, Ranadive S, Lustig RH.

Pediatr Diabetes. 2008 Jun;9(3 Pt 1):236-9. Epub 2008 Jan 24.PMID: 18221420 [PubMed - indexed for MEDLINE]Related articles

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.

Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group.

Diabetes. 2008 Apr;57(4):1115-9. Epub 2008 Jan 2.PMID: 18171712 [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

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.

Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S.

Diabetes. 2008 Jan;57(1):255-8. Epub 2007 Oct 17.PMID: 17942821 [PubMed - indexed for MEDLINE]Related articlesFree article

Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.

D'Amato E, Tammaro P, Craig TJ, Tosi A, Giorgetti R, Lorini R, Ashcroft FM.

Diabet Med. 2008 Jun;25(6):651-6.PMID: 18544102 [PubMed - indexed for MEDLINE]Related articles

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

Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Polak M, Cavé H.

Orphanet J Rare Dis. 2007 Mar 9;2:12. Review.PMID: 17349054 [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

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

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.

Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S.

Diabetes Obes Metab. 2007 Nov;9 Suppl 2:28-39.PMID: 17919176 [PubMed - indexed for MEDLINE]Related articles

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

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, Hosokawa M, Yamada Y, Inagaki N, Nakahata T.

J Clin Endocrinol Metab. 2005 Jun;90(6):3174-8. Epub 2005 Mar 22.PMID: 15784703 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

Kim MS, Kim SY, Kim GH, Yoo HW, Lee DW, Lee DY.

J Korean Med Sci. 2007 Aug;22(4):616-20.PMID: 17728498 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I.

J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9.PMID: 17213273 [PubMed - indexed for MEDLINE]Related articlesFree article