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Volumn 361, Issue 9354, 2003, Pages 301-307

A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN; RECEPTOR SUBTYPE; SULFONYLUREA RECEPTOR;

EID: 0037464795     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(03)12325-2     Document Type: Article
Times cited : (163)

References (28)
  • 2
    • 0033911742 scopus 로고    scopus 로고
    • Recent advances in the genetics of maturity-onset diabetes of the young and other forms of autosomal dominant diabetes
    • Doria A., Plengvidhya N. Recent advances in the genetics of maturity-onset diabetes of the young and other forms of autosomal dominant diabetes. Curr Opin Endocrinol Diabetes. 7:2000;203-210.
    • (2000) Curr Opin Endocrinol Diabetes , vol.7 , pp. 203-210
    • Doria, A.1    Plengvidhya, N.2
  • 3
    • 0032788372 scopus 로고    scopus 로고
    • Molecular biology of adenosine triphosphate-sensitive potassium channels
    • Aguilar-Bryan L., Bryan J. Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev. 20:1999;101-135.
    • (1999) Endocr Rev , vol.20 , pp. 101-135
    • Aguilar-Bryan, L.1    Bryan, J.2
  • 4
    • 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., et al. Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch Dis Child. 56:1981;496-508.
    • (1981) Arch Dis Child , vol.56 , pp. 496-508
    • Aynsley-Green, A.1    Polak, J.M.2    Bloom, S.R.3
  • 6
    • 0033853921 scopus 로고    scopus 로고
    • Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy
    • Kassem S.A., Ariel I., Thornton P.S., Scheimberg I., Glaser B. Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy. Diabetes. 49:2000;1325-1333.
    • (2000) Diabetes , vol.49 , pp. 1325-1333
    • Kassem, S.A.1    Ariel, I.2    Thornton, P.S.3    Scheimberg, I.4    Glaser, B.5
  • 7
    • 0033803049 scopus 로고    scopus 로고
    • Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
    • Huopio H., Reimann F., Ashfield R., et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest. 106:2000;897-906.
    • (2000) J Clin Invest , vol.106 , pp. 897-906
    • Huopio, H.1    Reimann, F.2    Ashfield, R.3
  • 8
    • 0003721372 scopus 로고
    • Geneva: WHO
    • Diabetes mellitus. 1985;10-11 WHO, Geneva.
    • (1985) Diabetes Mellitus , pp. 10-11
  • 9
    • 0031027502 scopus 로고    scopus 로고
    • Characterization of the MODY3 phenotype: Early-onset diabetes caused by an insulin secretion defect
    • Lehto M., Tuomi T., Mahtani M.M., et al. Characterization of the MODY3 phenotype: early-onset diabetes caused by an insulin secretion defect. J Clin Invest. 99:1997;582-591.
    • (1997) J Clin Invest , vol.99 , pp. 582-591
    • Lehto, M.1    Tuomi, T.2    Mahtani, M.M.3
  • 10
    • 0031963964 scopus 로고    scopus 로고
    • Defects in insulin secretion and insulin action in non-insulin dependent diabetes mellitus are inherited: Metabolic studies on offspring of diabetic probands
    • Vauhkonen I., Niskanen L., Vanninen E., et al. Defects in insulin secretion and insulin action in non-insulin dependent diabetes mellitus are inherited: metabolic studies on offspring of diabetic probands. J Clin Invest. 101:1998;86-96.
    • (1998) J Clin Invest , vol.101 , pp. 86-96
    • Vauhkonen, I.1    Niskanen, L.2    Vanninen, E.3
  • 11
    • 0031851293 scopus 로고    scopus 로고
    • Definition, diagnosis and classification of diabetes mellitus and its complications: Part 1 - Diagnosis and classification of diabetes mellitus, provisional report of a WHO consultation
    • Alberti K.G., Zimmet P.Z. Definition, diagnosis and classification of diabetes mellitus and its complications: part 1 - diagnosis and classification of diabetes mellitus, provisional report of a WHO consultation. Diabet Med. 15:1998;539-553.
    • (1998) Diabet Med , vol.15 , pp. 539-553
    • Alberti, K.G.1    Zimmet, P.Z.2
  • 12
    • 6344234148 scopus 로고    scopus 로고
    • Diagnostics of endocrine function in children and adolescents
    • E. Heinze, & R. Holl. Tybingen: Johann Ambrosius Barth Verlag
    • Ranke M. Diagnostics of endocrine function in children and adolescents. Heinze E., Holl R. Tests for beta cell function in childhood and adolescence. 1996;448 Johann Ambrosius Barth Verlag, Tybingen.
    • (1996) Tests for Beta Cell Function in Childhood and Adolescence , pp. 448
    • Ranke, M.1
  • 13
    • 0028813928 scopus 로고
    • Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: High incidence of diabetes mellitus and persistent beta-cell dysfunction at long-term follow-up
    • Leibowitz G., Glaser B., Higazi A.A., et al. Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: high incidence of diabetes mellitus and persistent beta-cell dysfunction at long-term follow-up. J Clin Endocrinol Metab. 80:1995;386-392.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 386-392
    • Leibowitz, G.1    Glaser, B.2    Higazi, A.A.3
  • 14
    • 0032790274 scopus 로고    scopus 로고
    • Hyperinsulism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene
    • Glaser B., Ryan F., Donath M., et al. Hyperinsulism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. Diabetes. 48:1999;1652-1657.
    • (1999) Diabetes , vol.48 , pp. 1652-1657
    • Glaser, B.1    Ryan, F.2    Donath, M.3
  • 16
    • 0030671407 scopus 로고    scopus 로고
    • Abnormalities of pancreatic islets by targeted expression of a dominant-negative KATP channel
    • Miki T., Tashiro F., Iwanaga T., et al. Abnormalities of pancreatic islets by targeted expression of a dominant-negative KATP channel. Proc Natl Acad Sci USA. 94:1997;11969-11973.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 11969-11973
    • Miki, T.1    Tashiro, F.2    Iwanaga, T.3
  • 17
    • 0032857518 scopus 로고    scopus 로고
    • High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
    • Lehto M., Wipemo C., Ivarsson S.A., et al. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia. 42:1999;1131-1137.
    • (1999) Diabetologia , vol.42 , pp. 1131-1137
    • Lehto, M.1    Wipemo, C.2    Ivarsson, S.A.3
  • 18
    • 15844366738 scopus 로고    scopus 로고
    • Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians
    • Inoue H., Ferrer J., Welling C.M., et al. Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. Diabetes. 45:1996;825-831.
    • (1996) Diabetes , vol.45 , pp. 825-831
    • Inoue, H.1    Ferrer, J.2    Welling, C.M.3
  • 19
    • 0031925068 scopus 로고    scopus 로고
    • Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene
    • Hansen T., Echwald S.M., Hansen L., et al. Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. Diabetes. 47:1998;598-605.
    • (1998) Diabetes , vol.47 , pp. 598-605
    • Hansen, T.1    Echwald, S.M.2    Hansen, L.3
  • 20
    • 0031702660 scopus 로고    scopus 로고
    • Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia
    • Goksel D.L., Fischbach K., Duggirala R., et al. Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia. Hum Genet. 103:1998;280-285.
    • (1998) Hum Genet , vol.103 , pp. 280-285
    • Goksel, D.L.1    Fischbach, K.2    Duggirala, R.3
  • 21
    • 0033007968 scopus 로고    scopus 로고
    • Variants in the sulphonylurea receptor gene: Association of the exon 16-3t variant with Type II diabetes mellitus in Dutch Caucasians
    • t'Hart L.M., de Knijff P., Dekker J.M., et al. Variants in the sulphonylurea receptor gene: association of the exon 16-3t variant with Type II diabetes mellitus in Dutch Caucasians. Diabetologia. 42:1999;617-620.
    • (1999) Diabetologia , vol.42 , pp. 617-620
    • T'Hart, L.M.1    De Knijff, P.2    Dekker, J.M.3
  • 22
    • 0031684712 scopus 로고    scopus 로고
    • Clinical characterization of polymorphims in the sulphonylurea receptor 1 gene in Japanese subjects with type 2 diabetes mellitus
    • Ishiyama-Shigenoto S., Yamada K., Yuan X., et al. Clinical characterization of polymorphims in the sulphonylurea receptor 1 gene in Japanese subjects with type 2 diabetes mellitus. Diabet Med. 15:1998;826-829.
    • (1998) Diabet Med , vol.15 , pp. 826-829
    • Ishiyama-Shigenoto, S.1    Yamada, K.2    Yuan, X.3
  • 23
    • 0035120195 scopus 로고    scopus 로고
    • Decreased fasting and oral glucose stimulated C-peptide in nondiabetic subjects with sequence variants in the sulfonylurea receptor 1 gene
    • Weisnagel S.J., Rankinen T., Nadeau A., et al. Decreased fasting and oral glucose stimulated C-peptide in nondiabetic subjects with sequence variants in the sulfonylurea receptor 1 gene. Diabetes. 50:2001;697-702.
    • (2001) Diabetes , vol.50 , pp. 697-702
    • Weisnagel, S.J.1    Rankinen, T.2    Nadeau, A.3
  • 24
    • 0034737811 scopus 로고    scopus 로고
    • Sur1 knockout mice: A model for KATP channel-independent regulation of insulin secretion
    • Seghers V., Nakazaki M., DeMayo F., Aguilar-Bryan L., Bryan J. Sur1 knockout mice: a model for KATP channel-independent regulation of insulin secretion. J Biol Chem. 275:2000;9270-9277.
    • (2000) J Biol Chem , vol.275 , pp. 9270-9277
    • Seghers, V.1    Nakazaki, M.2    DeMayo, F.3    Aguilar-Bryan, L.4    Bryan, J.5
  • 25
    • 0034048298 scopus 로고    scopus 로고
    • Diverse roles of KATP channels learned from Kir6.2 genetically engineered mice
    • Seino S., Iwanaga T., Nagashima K., Miki T. Diverse roles of KATP channels learned from Kir6.2 genetically engineered mice. Diabetes. 49:2000;311-318.
    • (2000) Diabetes , vol.49 , pp. 311-318
    • Seino, S.1    Iwanaga, T.2    Nagashima, K.3    Miki, T.4
  • 26
    • 0029958404 scopus 로고    scopus 로고
    • Glucose intolerance but normal satiety in mice with a null mutation in the glucagon-like peptide 1 receptor gene
    • Scrocchi L.A., Brown T.J., MaClusky N., et al. Glucose intolerance but normal satiety in mice with a null mutation in the glucagon-like peptide 1 receptor gene. Nat Med. 11:1996;1254-1256.
    • (1996) Nat Med , vol.11 , pp. 1254-1256
    • Scrocchi, L.A.1    Brown, T.J.2    MaClusky, N.3
  • 27
    • 0007866067 scopus 로고    scopus 로고
    • Glucose intolerance caused by a defect in the entero-insular axis: A study in gastric inhibitory polypeptide receptor knockout mice
    • Miyawaki K., Yamada Y., Yano H., et al. Glucose intolerance caused by a defect in the entero-insular axis: a study in gastric inhibitory polypeptide receptor knockout mice. Proc Natl Acad Sci USA. 96:1999;14843-14847.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 14843-14847
    • Miyawaki, K.1    Yamada, Y.2    Yano, H.3
  • 28
    • 0034221270 scopus 로고    scopus 로고
    • The molecular and physiological basis of insulin resistance: Emerging implications for metabolic and cardiovascular diseases
    • Saltier A.R. The molecular and physiological basis of insulin resistance: emerging implications for metabolic and cardiovascular diseases. J Clin Invest. 106:2000;163-164.
    • (2000) J Clin Invest , vol.106 , pp. 163-164
    • Saltier, A.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.