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Volumn 77, Issue 5, 2010, Pages 551-554

KCNJ11 activating mutation in an indian family with remitting and relapsing diabetes

Author keywords

KCNJ11; Neonatal diabetes; Relapse; Remit

Indexed keywords

CELL PROTEIN; GENOMIC DNA; GLIBENCLAMIDE; GLUCOSE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PROTEIN ABCC8; PROTEIN INS; UNCLASSIFIED DRUG;

EID: 77956186298     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-010-0062-9     Document Type: Article
Times cited : (10)

References (11)
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    • Hattersley, A.T.1    Ashcroft, F.M.2
  • 2
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    • 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 et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004; 350: 1838-1849.
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    • Gloyn, A.L.1    Pearson, E.R.2    Antcliff, J.F.3    Proks, P.4    Bruining, G.J.5    Slingerland, A.S.6
  • 3
    • 33646513278 scopus 로고    scopus 로고
    • 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. 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. Diabetologia 2006; 49: 1190-1197.
    • (2006) Diabetologia , vol.49 , pp. 1190-1197
    • Flanagan, S.E.1    Edghill, E.L.2    Gloyn, A.L.3    Ellard, S.4    Hattersley, A.T.5
  • 4
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    • 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 et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007; 56: 1930-1937.
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    • Flanagan, S.E.1    Patch, A.M.2    Mackay, D.J.3    Edghill, E.L.4    Gloyn, A.L.5    Robinson, D.6
  • 6
    • 4644260056 scopus 로고    scopus 로고
    • 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 et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004; 53: 2713-2718.
    • (2004) Diabetes , vol.53 , pp. 2713-2718
    • Sagen, J.V.1    Raeder, H.2    Hathout, E.3    Shehadeh, N.4    Gudmundsson, K.5    Baevre, H.6
  • 7
    • 20044389281 scopus 로고    scopus 로고
    • 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 SP et al. A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep 2005; 6: 470-475.
    • (2005) EMBO Rep , vol.6 , pp. 470-475
    • Proks, P.1    Girard, C.2    Haider, S.3    Gloyn, A.L.4    Hattersley, A.T.5    Sansom, S.P.6
  • 8
    • 33746686369 scopus 로고    scopus 로고
    • Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
    • Pearson ER, Flechtner I, Njølstad PR et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006; 355: 467-477.
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    • Pearson, E.R.1    Flechtner, I.2    Njølstad, P.R.3
  • 9
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    • 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 et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004; 53: 2719-2722.
    • (2004) Diabetes , vol.53 , pp. 2719-2722
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  • 10
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    • Edghill E, Flanagan S, Patch AM, Boustred C, Parrish, Shields B et al. Insulin Mutation Screening in 1044 Patients with Diabetes: Mutations in the INS gene are a Common Cause of Neonatal Diabetes but a Rarer Cause of Diabetes Diagnosed in Childhood or Adulthood. Diabetes 2008; 57: 1034-1042.
    • (2008) Diabetes , vol.57 , pp. 1034-1042
    • Edghill, E.1    Flanagan, S.2    Patch, A.M.3    Boustred, C.4    Parrish Shields, B.5
  • 11
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    • Ashcroft, F.M.1    Rorsman, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.