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Volumn 7, Issue 7, 1998, Pages 1119-1128

Genetic heterogeneity in familial hyperinsulinism

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; INSULIN;

EID: 0031802399     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1119     Document Type: Article
Times cited : (111)

References (50)
  • 1
    • 0017278130 scopus 로고
    • Hyperinsulinism in infants and children, diagnosis and therapy
    • Stanley, C.A. and Baker, L, (1976) Hyperinsulinism in infants and children, diagnosis and therapy. Adv. Pediatr., 23. 315-355.
    • (1976) Adv. Pediatr. , vol.23 , pp. 315-355
    • Stanley, C.A.1    Baker, L.2
  • 2
    • 0017164828 scopus 로고
    • Idiopathic hypoglycemia in sibs with morphologic evidence of nesidioblastosis of the pancreas
    • Woo, D., Scopes, J.W. and Polak, J.M. (1976) Idiopathic hypoglycemia in sibs with morphologic evidence of nesidioblastosis of the pancreas. Arch. Dis. Child., 51, 528-531.
    • (1976) Arch. Dis. Child. , vol.51 , pp. 528-531
    • Woo, D.1    Scopes, J.W.2    Polak, J.M.3
  • 3
    • 0019416744 scopus 로고
    • Nesidioblastosis of the pancreas, definition of the syndrome and the management of the severe neonatal hyperinsulinemic hypoglycemia
    • Aynsley-Green, A., Polak, J.M., Bloom, S.R., Gough, M.H., Keeling, J., Ashcroft, S.J., Turner, R.C. and Baum, J.D. (1981) Nesidioblastosis of the pancreas, definition of the syndrome and the management of the severe neonatal hyperinsulinemic hypoglycemia. 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.6    Turner, R.C.7    Baum, J.D.8
  • 4
    • 0010585067 scopus 로고
    • Persistent hyperinsulinemic hypoglycemia of infancy and childhood
    • Schiller, M. (ed.), W.B. Saunders, Philadelphia, PA
    • Landau, H. and Schiller, M. (1991) Persistent hyperinsulinemic hypoglycemia of infancy and childhood. In Schiller, M. (ed.), Pediatric Surgery of the Liver, Pancreas and Spleen. W.B. Saunders, Philadelphia, PA, pp. 187-201.
    • (1991) Pediatric Surgery of the Liver, Pancreas and Spleen , pp. 187-201
    • Landau, H.1    Schiller, M.2
  • 5
    • 0030936881 scopus 로고    scopus 로고
    • Hyperinsulinism in infants and children
    • Stanley, CA. (1997) Hyperinsulinism in infants and children. Pediatr. Clinics N. Am., 44, 363-374.
    • (1997) Pediatr. Clinics N. Am. , vol.44 , pp. 363-374
    • Stanley, C.A.1
  • 6
    • 0026053121 scopus 로고
    • Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder
    • Thomton, P.S., Sumner, A.E., Ruchell, E.D., Spielman, R.S., Baker, L. and Stanley, CA. (1991) Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder. J. Pediatr., 119, 721-724.
    • (1991) J. Pediatr. , vol.119 , pp. 721-724
    • Thomton, P.S.1    Sumner, A.E.2    Ruchell, E.D.3    Spielman, R.S.4    Baker, L.5    Stanley, C.A.6
  • 8
    • 0030936044 scopus 로고    scopus 로고
    • An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus
    • Kukuvitis, A., Deal, C., Arbour, L. and Polychronakos, C. (1997) An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. J. Clin. Endocrinol. Metab., 82, 1192-1194.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , pp. 1192-1194
    • Kukuvitis, A.1    Deal, C.2    Arbour, L.3    Polychronakos, C.4
  • 10
    • 0028801579 scopus 로고
    • Homozygosity mapping, to chromosome 1lp, 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 1lp, 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
  • 14
    • 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., Wohlik, 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    Wohlik, N.2    Huang, E.3    Kuhnle, E.4    Rabl, W.5    Gagel, R.F.6    Cote, G.J.7
  • 17
    • 0029836983 scopus 로고    scopus 로고
    • Mutation of the pancreatic islet inward rectifier, Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas, P., Yuyang, Y. and Lightner, E. (1996) Mutation of the pancreatic islet inward rectifier, Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol. Genet., 5, 1809-1812.
    • (1996) Hum Mol. Genet. , vol.5 , pp. 1809-1812
    • Thomas, P.1    Yuyang, Y.2    Lightner, E.3
  • 22
    • 0030609142 scopus 로고    scopus 로고
    • ATP channel activity by diazoxide and MgADP: Distinct functions of the two nucleotide binding folds of the sulfonylurea receptor
    • ATP channel activity by diazoxide and MgADP: Distinct functions of the two nucleotide binding folds of the sulfonylurea receptor. J. Gen. Physiol., 110, 643-654.
    • (1997) J. Gen. Physiol. , vol.110 , pp. 643-654
    • Shyng, S.-L.1    Ferrigni, T.2    Nichols, C.G.3
  • 24
    • 0030611865 scopus 로고    scopus 로고
    • 2+-independent ATP binding of the sulfonylurea receptor SUR1
    • 2+-independent ATP binding of the sulfonylurea receptor SUR1. J. Biol. Chem., 272, 22983-22986.
    • (1997) J. Biol. Chem. , vol.272 , pp. 22983-22986
    • Ueda, K.1    Inagaki, N.2    Seino, S.3
  • 26
    • 0029995952 scopus 로고    scopus 로고
    • + channels, Generating excitement in pancreatic β-cells
    • + channels, Generating excitement in pancreatic β-cells. Diabetes, 45, 845-854.
    • (1996) Diabetes , vol.45 , pp. 845-854
    • Dukes, I.D.1    Philipson, L.H.2
  • 29
    • 0031026369 scopus 로고    scopus 로고
    • Membrane topology distinguishes a subfamily of the ATP-binding cassette (ABC) transporters
    • Tusnady, G.E., Bakos, E., Varadi, A. and Sakardi, B. (1997) Membrane topology distinguishes a subfamily of the ATP-binding cassette (ABC) transporters. FEBS Lett., 402, 1-3.
    • (1997) FEBS Lett. , vol.402 , pp. 1-3
    • Tusnady, G.E.1    Bakos, E.2    Varadi, A.3    Sakardi, B.4
  • 30
    • 0001607723 scopus 로고
    • Distantly related sequences in the α- and β-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold
    • Walker, J.E., Saraste, M., Runswick, M.J. and Gay, N.J. (1982) Distantly related sequences in the α- and β-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold. EMBO J., 1, 945-951.
    • (1982) EMBO J. , vol.1 , pp. 945-951
    • Walker, J.E.1    Saraste, M.2    Runswick, M.J.3    Gay, N.J.4
  • 31
    • 0026621245 scopus 로고
    • ABC transporters: From microorganisms to man
    • Higgins, C.F. (1992) ABC transporters: From microorganisms to man. Annu. Rev. Cell Biol., 8, 67-113.
    • (1992) Annu. Rev. Cell Biol. , vol.8 , pp. 67-113
    • Higgins, C.F.1
  • 33
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes, sequence statistics and functional implications in gene expression
    • Shapiro, M.B. and Senepathy, P. (1987) RNA splice junctions of different classes of eukaryotes, sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senepathy, P.2
  • 34
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes, causes and consequences
    • Krawczak, M., Reiss, J. and Cooper, D.N. (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes, causes and consequences. Hum. Genet., 90, 41-54.
    • (1992) Hum. Genet. , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 35
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai, K. and Sakamoto, H. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene, 141, 171-177.
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 37
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5264 microsatellites
    • Dib, C. et al. (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature, 380, 152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1
  • 38
    • 0028895417 scopus 로고
    • Exon recognition in vertebrate splicing
    • Berget, S.M. (1995) Exon recognition in vertebrate splicing. J. Biol. Chem., 270, 2411-2414.
    • (1995) J. Biol. Chem. , vol.270 , pp. 2411-2414
    • Berget, S.M.1
  • 39
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat, L.E. (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am. J. Hum. Genet., 59, 279-286.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 279-286
    • Maquat, L.E.1
  • 40
    • 0029820166 scopus 로고    scopus 로고
    • Characterization of the human ABC superfamily, isolation and mapping of 21 new genes using the Expressed Sequence Tags database
    • Allikmets, R., Gerrard, B., Hutchinson, A. and Dean, M. (1996) Characterization of the human ABC superfamily, isolation and mapping of 21 new genes using the Expressed Sequence Tags database. Hum. Mol. Genet., 5, 1649-1655.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1649-1655
    • Allikmets, R.1    Gerrard, B.2    Hutchinson, A.3    Dean, M.4
  • 42
    • 0028338693 scopus 로고
    • Primary structural constraints of the P-loop of mitochondrial FI-ATPase from yeast
    • Shen, H., Yao, B.-Y. and Mueller, D.M. (1994) Primary structural constraints of the P-loop of mitochondrial FI-ATPase from yeast. J. Biol. Chem., 269, 9424-9428.
    • (1994) J. Biol. Chem. , vol.269 , pp. 9424-9428
    • Shen, H.1    Yao, B.-Y.2    Mueller, D.M.3
  • 43
    • 0025954269 scopus 로고
    • Structurefunction analysis of the histidine permease and comparison with cystic fibrosis mutations
    • Shyamala, V., Baichwal, B., Beall, E. and Ames, G.F.-L. (1991) Structurefunction analysis of the histidine permease and comparison with cystic fibrosis mutations. J. Biol. Chem., 266, 18714-18719.
    • (1991) J. Biol. Chem. , vol.266 , pp. 18714-18719
    • Shyamala, V.1    Baichwal, B.2    Beall, E.3    Ames, G.F.-L.4
  • 44
    • 0028856292 scopus 로고
    • Defective protein folding as a basis of human disease
    • Thomas, P.J., Qu, B.-H. and Pederson, P.L. (1995) Defective protein folding as a basis of human disease. Trends Biochem. Sci., 20, 456-459.
    • (1995) Trends Biochem. Sci. , vol.20 , pp. 456-459
    • Thomas, P.J.1    Qu, B.-H.2    Pederson, P.L.3
  • 45
    • 0025242929 scopus 로고
    • Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
    • Cheng, S.H., Gregory, R.J., Marshall, J., Paul, S., Souza, D.W., White, G.A., O'Riordan, C.R. and Smith, A.E. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell, 63, 827-834.
    • (1990) Cell , vol.63 , pp. 827-834
    • Cheng, S.H.1    Gregory, R.J.2    Marshall, J.3    Paul, S.4    Souza, D.W.5    White, G.A.6    O'Riordan, C.R.7    Smith, A.E.8
  • 46
    • 0025912486 scopus 로고
    • Maturation and function of cystic fibrosis transmembrane regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
    • Gregory, R.J., Rich, D.P., Cheng, S.H., Souza, D.W., Paul, S., Manavalan, P., Anderson, M.P., Welsh, M.J. and Smith, A.E. (1991) Maturation and function of cystic fibrosis transmembrane regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol. Cell. Biol., 11, 3886-3893.
    • (1991) Mol. Cell. Biol. , vol.11 , pp. 3886-3893
    • Gregory, R.J.1    Rich, D.P.2    Cheng, S.H.3    Souza, D.W.4    Paul, S.5    Manavalan, P.6    Anderson, M.P.7    Welsh, M.J.8    Smith, A.E.9
  • 47
    • 0028929909 scopus 로고
    • Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic insufficiency
    • Sheppard, D.N., Ostedgaard, L.S., Wonter, M.C. and Welsh, MJ. (1995) Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic insufficiency. EMBO J., 14, 876-883.
    • (1995) EMBO J. , vol.14 , pp. 876-883
    • Sheppard, D.N.1    Ostedgaard, L.S.2    Wonter, M.C.3    Welsh, M.J.4
  • 48
    • 0029835571 scopus 로고    scopus 로고
    • Effect of cystic fibrosis associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator
    • Cotton, J.F., Ostegaard, L.S., Carson, M.R. and Welsh, M.J. (1996) Effect of cystic fibrosis associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator. J. Biol. Chem., 271, 21279-21284.
    • (1996) J. Biol. Chem. , vol.271 , pp. 21279-21284
    • Cotton, J.F.1    Ostegaard, L.S.2    Carson, M.R.3    Welsh, M.J.4
  • 49
    • 0029932863 scopus 로고    scopus 로고
    • Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy
    • Feigenbaum, V., Lombard-Platet, G., Guidoux, S., Sarde, C-O., Mandel, J.-L. and Auborg, P. (1996) Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am. J. Hum. Genet., 58, 1135-1144.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1135-1144
    • Feigenbaum, V.1    Lombard-Platet, G.2    Guidoux, S.3    Sarde, C.-O.4    Mandel, J.-L.5    Auborg, P.6


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