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Volumn 4, Issue SUPPL. 1, 2006, Pages 71-75

The genetic basis of neonatal diabetes mellitus

Author keywords

KATP channels; Maturity onset of diabetes in the young (MODY); Neonatal diabetes mellitus; Permanent neonatal diabetes; Transient neonatal diabetes

Indexed keywords

ADENOSINE TRIPHOSPHATE; DIFFERENTIATION INDUCING FACTOR; GROWTH FACTOR; HOMEODOMAIN PROTEIN; HORMONE; INSULIN; ION CHANNEL; POTASSIUM CHANNEL; SULFONYLUREA; SULFONYLUREA RECEPTOR 1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXP3; ZINC FINGER PROTEIN;

EID: 33846851524     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (18)

References (30)
  • 2
    • 23344439106 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus: From understudy to center stage
    • Sperling MA. Neonatal diabetes mellitus: from understudy to center stage. Curr Opin Pediatr 2005;17:512-518
    • (2005) Curr Opin Pediatr , vol.17 , pp. 512-518
    • Sperling, M.A.1
  • 5
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001;345:971-980
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 8
    • 2942666206 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism
    • Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. J Clin Endocrinol Metab 2004;89:2905-2908
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 2905-2908
    • Yorifuji, T.1    Kurokawa, K.2    Mamada, M.3    Imai, T.4    Kawai, M.5    Nishi, Y.6    Shishido, S.7    Hasegawa, Y.8    Nakahata, T.9
  • 9
    • 4143059174 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome: A clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature
    • Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG. Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr 2004;93:1195-1201
    • (2004) Acta Paediatr , vol.93 , pp. 1195-1201
    • Iyer, S.1    Korada, M.2    Rainbow, L.3    Kirk, J.4    Brown, R.M.5    Shaw, N.6    Barrett, T.G.7
  • 10
    • 0036346861 scopus 로고    scopus 로고
    • Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
    • Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002;39:537-545
    • (2002) J Med Genet , vol.39 , pp. 537-545
    • Wildin, R.S.1    Smyk-Pearson, S.2    Filipovich, A.H.3
  • 11
    • 0038345163 scopus 로고    scopus 로고
    • A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes
    • Bassuny WM, Ihara K, Sasaki Y, Kuromaru R, Kohno H, Matsuura N, Hara T. A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. Immunogenetics 2003;55:149-156
    • (2003) Immunogenetics , vol.55 , pp. 149-156
    • Bassuny, W.M.1    Ihara, K.2    Sasaki, Y.3    Kuromaru, R.4    Kohno, H.5    Matsuura, N.6    Hara, T.7
  • 12
  • 14
    • 4043117827 scopus 로고    scopus 로고
    • Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus TNDM
    • Ma D, Shield JP, Dean W, Ledere I, Knauf C, Burcelin RR, Rutter GA, Kelsey G. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus TNDM. J Clin Invest 2004;114:339-348
    • (2004) J Clin Invest , vol.114 , pp. 339-348
    • Ma, D.1    Shield, J.P.2    Dean, W.3    Ledere, I.4    Knauf, C.5    Burcelin, R.R.6    Rutter, G.A.7    Kelsey, G.8
  • 15
    • 4043096481 scopus 로고    scopus 로고
    • Unlocking the secrets of the pancreatic beta cell: Man and mouse provide the key
    • Hattersley AT. Unlocking the secrets of the pancreatic beta cell: man and mouse provide the key. J Clin Invest 2004;114:314-316
    • (2004) J Clin Invest , vol.114 , pp. 314-316
    • Hattersley, A.T.1
  • 16
    • 23644446162 scopus 로고    scopus 로고
    • The channelopathies: Novel insights into molecular and genetic mechanisms of human disease
    • Kass RS. The channelopathies: novel insights into molecular and genetic mechanisms of human disease. J Clin Invest 2005;115:1986-1989
    • (2005) J Clin Invest , vol.115 , pp. 1986-1989
    • Kass, R.S.1
  • 17
    • 23644442552 scopus 로고    scopus 로고
    • ATP-sensitive potassium channelopathies: Focus on insulin secretion
    • Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005;115:2047-2058
    • (2005) J Clin Invest , vol.115 , pp. 2047-2058
    • Ashcroft, F.M.1
  • 23
    • 0025164846 scopus 로고
    • Glucose, sulfonylureas, and neurotransmitter release: Role of ATP-sensitive K+ channels
    • Amoroso S, Schmid-Antomarchi H, Fosset M, Lazdunski M. Glucose, sulfonylureas, and neurotransmitter release: role of ATP-sensitive K+ channels. Science 1990;247:852-854
    • (1990) Science , vol.247 , pp. 852-854
    • Amoroso, S.1    Schmid-Antomarchi, H.2    Fosset, M.3    Lazdunski, M.4
  • 24
    • 0025372475 scopus 로고
    • K+ channel openers activate brain sulfonylurea-sensitive K+ channels and block neurosecretion
    • Schmid-Antomarchi H, Amoroso S, Fosset M, Lazdunski M. K+ channel openers activate brain sulfonylurea-sensitive K+ channels and block neurosecretion. Proc Natl Acad Sci USA 1990;87:3489-3492
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 3489-3492
    • Schmid-Antomarchi, H.1    Amoroso, S.2    Fosset, M.3    Lazdunski, M.4
  • 25
    • 10644233000 scopus 로고    scopus 로고
    • 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. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci USA 2004;101:17539-17544
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 17539-17544
    • Proks, P.1    Antcliff, J.F.2    Lippiat, J.3    Gloyn, A.L.4    Hattersley, A.T.5    Ashcroft, F.M.6
  • 27
    • 7044269434 scopus 로고    scopus 로고
    • 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. 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. Diabetes 2004;53:2998-3001
    • (2004) Diabetes , vol.53 , pp. 2998-3001
    • Edghill, E.L.1    Gloyn, A.L.2    Gillespie, K.M.3    Lambert, A.P.4    Raymond, N.T.5    Swift, P.G.6    Ellard, S.7    Gale, E.A.8    Hattersley, A.T.9
  • 29
    • 0037464795 scopus 로고    scopus 로고
    • A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1
    • Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, Laakso M. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 2003;361:301-307
    • (2003) Lancet , vol.361 , pp. 301-307
    • Huopio, H.1    Otonkoski, T.2    Vauhkonen, I.3    Reimann, F.4    Ashcroft, F.M.5    Laakso, M.6
  • 30
    • 33746681908 scopus 로고    scopus 로고
    • ATP-sensitive potassium channels - neonatal diabetes mellitus and beyond
    • Sperling MA. ATP-sensitive potassium channels - neonatal diabetes mellitus and beyond. N Engl J Med 2006;355:507-510
    • (2006) N Engl J Med , vol.355 , pp. 507-510
    • Sperling, M.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.