메뉴 건너뛰기




Volumn 5, Issue 11, 1996, Pages 1809-1812

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN; LEUCINE; POTASSIUM CHANNEL; PROLINE;

EID: 0029836983     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.11.1809     Document Type: Article
Times cited : (401)

References (26)
  • 1
    • 0019416744 scopus 로고
    • Nesidioblastosis of the pancreas: Definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia
    • Aynsley-Green, A., Polak, J.M., Bloom, S.R., Gough, M.H., Keeling, J., Ashcroft, S.J.H., Turner, R.C. and Boum, J.D. (1981) Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch. Dis. Child. 56, 496-508.
    • (1981) Arch. Dis. Child. , vol.56 , pp. 496-508
    • Aynsley-Green, A.1    Polak, J.M.2    Bloom, S.R.3    Gough, M.H.4    Keeling, J.5    Ashcroft, S.J.H.6    Turner, R.C.7    Boum, J.D.8
  • 3
    • 0028801579 scopus 로고
    • Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas, P.M., Cote, G.J., Hallman, D.M. and Mathew, P.M. (1995) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 56, 416-421.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 416-421
    • Thomas, P.M.1    Cote, G.J.2    Hallman, D.M.3    Mathew, P.M.4
  • 5
    • 0029756638 scopus 로고    scopus 로고
    • Inactivation of the first nucleotide binding fold of the sulfonylurea receptor and familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas, P.M., Wohllk, N., Huang, E., Kuhnle, E., Rabl, W., Gagel R.F. and Cote, G.J. (1996) Inactivation of the first nucleotide binding fold of the sulfonylurea receptor and familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet., 59, 510-518.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 510-518
    • Thomas, P.M.1    Wohllk, N.2    Huang, E.3    Kuhnle, E.4    Rabl, W.5    Gagel, R.F.6    Cote, G.J.7
  • 6
    • 0025300438 scopus 로고
    • Properties and functions of ATP-sensitive K-channels
    • Ashcroft, S.J.H. and Ashcroft, F.M. (1990) Properties and functions of ATP-sensitive K-channels. Cell. Signalling 2, 197-214.
    • (1990) Cell. Signalling , vol.2 , pp. 197-214
    • Ashcroft, S.J.H.1    Ashcroft, F.M.2
  • 8
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander, E.S. and Botstein, D. (1987) Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570.
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 10
    • 0029936310 scopus 로고    scopus 로고
    • Rat inwardly rectifying potassium channel Kir6.2: Cloning electrophysiological characterization, and decreased expression in pancreatic islets of male Zucker diabetic fatty rats
    • Tokuyama, Y., Fan, Z., Furuta, H., Makielski, J.C., Polonsky, K.S., Bell, G.I. and Yano, H. (1996) Rat inwardly rectifying potassium channel Kir6.2: cloning electrophysiological characterization, and decreased expression in pancreatic islets of male Zucker diabetic fatty rats. Biochem. Biophys. Res. Commun. 220, 532-538.
    • (1996) Biochem. Biophys. Res. Commun. , vol.220 , pp. 532-538
    • Tokuyama, Y.1    Fan, Z.2    Furuta, H.3    Makielski, J.C.4    Polonsky, K.S.5    Bell, G.I.6    Yano, H.7
  • 11
    • 0027403280 scopus 로고
    • Primary structure and functional expression of a mouse inward rectifier potassium channel
    • Kubo, Y., Baldwin, T.J., Jan, Y.N. and Jan, L.Y. (1993) Primary structure and functional expression of a mouse inward rectifier potassium channel. Nature 362, 127-133.
    • (1993) Nature , vol.362 , pp. 127-133
    • Kubo, Y.1    Baldwin, T.J.2    Jan, Y.N.3    Jan, L.Y.4
  • 13
    • 0028157551 scopus 로고
    • A transmembrane domain of the putative channel subunit MEC-4 influences mechanotransduction and neurodegeneration in C. elegans
    • Hong, K. and Driscoll, M. (1994) A transmembrane domain of the putative channel subunit MEC-4 influences mechanotransduction and neurodegeneration in C. elegans. Nature 367, 470-473.
    • (1994) Nature , vol.367 , pp. 470-473
    • Hong, K.1    Driscoll, M.2
  • 14
    • 0028093476 scopus 로고
    • Potassium channels and their evolving gates
    • Jan, L.Y. and Jan, Y.N. (1994) Potassium channels and their evolving gates. Nature 371, 119-122.
    • (1994) Nature , vol.371 , pp. 119-122
    • Jan, L.Y.1    Jan, Y.N.2
  • 15
    • 0026773754 scopus 로고
    • Atomic scale structure and functional models of voltage-gated potassium channels
    • Durrel, S.R. and Guy, R.H. (1992) Atomic scale structure and functional models of voltage-gated potassium channels. Biophys. J. 62, 238-250.
    • (1992) Biophys. J. , vol.62 , pp. 238-250
    • Durrel, S.R.1    Guy, R.H.2
  • 19
    • 0025782832 scopus 로고
    • Proline kinks in transmembrane α-helices
    • von Heijne, G. (1991) Proline kinks in transmembrane α-helices. J. Mol. Biol. 218, 499-503.
    • (1991) J. Mol. Biol. , vol.218 , pp. 499-503
    • Von Heijne, G.1
  • 20
    • 0029963793 scopus 로고
    • Defects in G protein-coupled signal transduction in human disease
    • Spiegel, A.M. (1995) Defects in G protein-coupled signal transduction in human disease. Annu. Rev. Physiol. 58, 143-170.
    • (1995) Annu. Rev. Physiol. , vol.58 , pp. 143-170
    • Spiegel, A.M.1
  • 23
    • 0029981205 scopus 로고    scopus 로고
    • A human pancreatic islet inwardly rectifying potassium channel: CDNA cloning, determination of the genomic structure and genetic variations in Japanese NIDDM patients
    • Tanizawa, Y., Matsubara, A., Ueda, K., Katagiri, H., Kuwano, A., Ferrer, J., Permutt, M.A. and Oka, Y. (1996) A human pancreatic islet inwardly rectifying potassium channel: cDNA cloning, determination of the genomic structure and genetic variations in Japanese NIDDM patients. Diabetologia 39, 447-452.
    • (1996) Diabetologia , vol.39 , pp. 447-452
    • Tanizawa, Y.1    Matsubara, A.2    Ueda, K.3    Katagiri, H.4    Kuwano, A.5    Ferrer, J.6    Permutt, M.A.7    Oka, Y.8
  • 26
    • 0028050545 scopus 로고
    • Direct sequencing of PCR products in agarose gel slices
    • Khorana, S., Gagel, R.F. and Cote, G.J. (1994) Direct sequencing of PCR products in agarose gel slices. Nucleic Acids Res. 22, 3425-3426.
    • (1994) Nucleic Acids Res. , vol.22 , pp. 3425-3426
    • Khorana, S.1    Gagel, R.F.2    Cote, G.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.