Open Access

Insulin Receptor and its Relationship with Different Forms of Insulin Resistance


Cite

[1] ADJEI AA, HIDALGO M. Intracellular signal transduction pathway proteins as targets for cancer therapy. J Clin Oncol 2005; 23: 5386-5403.10.1200/JCO.2005.23.648Open DOISearch in Google Scholar

[2] AL-GAZALI LI, KHALIL M, DEVADAS K. A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. J Med Genet 1993; 30: 470-475.10.1136/jmg.30.6.470Search in Google Scholar

[3] ARAKI E, SHIMADA F, UZAWA H, MORI M, EBINA Y. Characterization of the promoter region of the human insulin receptor gene. Evidence for promoter activity. J Biol Chem 1987; 262(33): 16186-16191.10.1016/S0021-9258(18)47714-9Search in Google Scholar

[4] ARAKI E, MURAKAMI T, SHIROTANI T, KANAI F, SHINOHARA Y, SHIMADA F, MORI M, SHICHIRI M, EBINA Y. A cluster of four Sp1 binding sites required for efficient expression of the human insulin receptor gene. J Biol Chem 1991; 266: 3944-3948.10.1016/S0021-9258(19)67884-1Search in Google Scholar

[5] ARIDOR M, BALCH WE. Integration of endoplasmic reticulum signaling in health and disease. Nat Med 1999; 5: 745-751.10.1038/104661039531810395318Open DOISearch in Google Scholar

[6] ARIOGLU E, ANDEWELT A, DIABO C, BELL M, TAYLOR SI, GORDEN P. Clinical course of the syndrome of autoantibodies to the insulin receptor (type B insulin resistance): a 28-year perspective. Medicine (Baltimore) 2002; 81: 87-100. 10.1097/00005792-200203000-0000111889410Open DOISearch in Google Scholar

[7] BACKELJAUW PF, ALVES C, EIDSON M, CLEVELAND W, UNDERWOOD LE, DAVENPORT ML. Effect of intravenous insulin-like growth factor I in two patients with leprechaunism. Pediatr Res 1994; 36: 749-754.10.1203/00006450-199412000-000127534902Open DOISearch in Google Scholar

[8] BALVAY L, LIBRI D, FISZMAN MY. Pre-mRNA secondary structure and the regulation of splicing. BioEssays 1993; 15: 165-169.10.1002/bies.9501503048489523Open DOISearch in Google Scholar

[9] BARBETTI F, GEJMAN PV, TAYLOR SI, RABEN N, CAMA A, BONORA E, PIZZO P, MOGHETTI P, MUGGEO M, ROTH J. Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. Diabetes 1992; 41: 408-415.10.2337/diab.41.4.4081607067Open DOISearch in Google Scholar

[10] BENYOUCEF S, SURINYA KH, HADASCHIK D, SIDDLE K. Characterization of insulin/IGF hybrid receptors: contributions of the insulin receptor L2 and Fn1 domains and the alternatively spliced exon 11 sequence to ligand binding and receptor activation. Biochem J 2007; 403: 603-613.10.1042/BJ20061709187638417291192Search in Google Scholar

[11] BLACK DL. Mechanisms of alternative pre-messanger RNA splicing. Annu Rev Biochem 2003; 72: 291-336.10.1146/annurev.biochem.72.121801.161720Open DOISearch in Google Scholar

[12] BRUNETTI A, MADDUX BA, WONG KY, GOLDFINE ID. Muscle differentiation is associated with increased insulin receptor biosynthesis and messenger RNA levels. J Clin Invest 1989; 83: 192-198.10.1172/JCI113858Open DOISearch in Google Scholar

[13] BRUNETTI A, GOLDFINE ID. Differential effects of fibroblast growth factor on insulin receptor and muscle specific protein gene expression in BC3H-1 myocytes. Mol Endocrinol 1990; 4: 880-885.10.1210/mend-4-6-880Search in Google Scholar

[14] [14] BRUNETTI A, FOTI D, GOLDFINE ID. Identification of unique nuclear regulatory proteins for the insulin receptor gene which appear during myocyte and adipocyte differentiation. J Clin Invest 1993; 92: 1288-1295.10.1172/JCI116702Open DOISearch in Google Scholar

[15] BRUNETTI A, MANFIOLETTI G, CHIEFARI E, GOLDFINE ID, FOTI D. Transcriptional regulation of human insulin receptor gene by the high-mobility group protein HMGI-Y. FASEB J 2001; 15: 492-500.10.1096/fj.00-0190comOpen DOISearch in Google Scholar

[16] BRUNING PF, BONFRER JM, VAN NOORD PA, et al. Insulin resistance and breast-cancer risk. Int J Cancer 1992; 52: 511-516.10.1002/ijc.2910520402Open DOISearch in Google Scholar

[17] BUCHNER J. Hsp90 & Co. - a holding for holding. Trends Biochem Sci 1999; 24: 136-141.10.1016/S0968-0004(99)01373-0Open DOISearch in Google Scholar

[18] BURATTI E, BARALLE M, BARALLE FE. Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res 2006; 34: 3494-3510.10.1093/nar/gkl498Open DOISearch in Google Scholar

[19] BURD CG, DREYFUSS G. Conserved structures and diversity of functions of RNA-binding proteins. EMBO J 1994; 13: 1197-1204.Search in Google Scholar

[20] BUSTIN M, REEVES R. High-mobility-group proteins: architectural components that facilitates chromatin function. Prog Nucleic Acids Res 1996; 54: 35-100.10.1016/S0079-6603(08)60360-8Open DOISearch in Google Scholar

[21] CÀCERES JF, STAMM S, Helfman DM, KRAINER AR. Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors. Science 1994; 265: 1706-1709.10.1126/science.80851568085156Search in Google Scholar

[22] COCHRAN E, YOUNG JR, SEBRING N, DE PAOLLI A. Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall Syndrome. J Clin Endocrinol Metab 2004; 89(4): 1548-1554.10.1210/jc.2003-031952Open DOISearch in Google Scholar

[23] DE MEYTS P, ROTH J, NEVILLE DM JR, GAVIN JR III, LESNIAK MA. Insulin interactions with its receptors: experimental evidence for negative cooperativity. Biochem Biophys Res Commun 1973; 55(1): 154-161.10.1016/S0006-291X(73)80072-5Open DOISearch in Google Scholar

[24] DE MEYTS P, BAINCO AR, ROTH J. Site-site interactions among insulin receptors. Characterization of the negative cooperativity. J Biol Chem 1976; 251(7): 1877-1888.10.1016/S0021-9258(17)33630-XSearch in Google Scholar

[25] DE MEYTS P, WHITTAKER J. Structural biology of insulin and IGF1 receptors: implications for drug design. Nat Rev Drug Discov 2002; 1: 769-783.10.1038/nrd917Search in Google Scholar

[26] DONOHUE WL, UCHIDA I. Leprechaunism: an euphemism for a rare familial disorder. J Pediatr 1954; 45: 505-519.10.1016/S0022-3476(54)80113-2Open DOISearch in Google Scholar

[27] EBINA Y, ELLIS L, YARNAGIN K, EDERY M, GRAF L, CLAUSER E, OU JH, MASIARZ F, KAN YW, GOLDFINE ID, et al. The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell 1975; 40: 747-758.10.1016/0092-8674(85)90334-4Search in Google Scholar

[28] EHRMANN DA, BARNES RB, ROSENFIELD RL. Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocr Rev 1995; 16: 322-353. 10.1210/er.16.3.322Open DOISearch in Google Scholar

[29] EHRMANN DA, CAVAGHAN MK, IMPERIAL J, STURIS J, ROSENFIELD RL, POLONSKY KS. Effects of metformin on insulin secretion, insulin action, and ovarian steroidogenesis in women with polycystic ovary syndrome. J Clin Endocrinol Metab 1997; 82: 524-530.10.1210/jc.82.2.524Search in Google Scholar

[30] EHRMANN DA, SCHNEIDER DJ, SOBEL BE, CAVAGHAN MK, IMPERIAL J, ROSENFIELD RL, POLONSKY KS. Troglitazone improves defects in insulin action, insulin secretion, ovarian steroidogenesis, and fibrinolysis in women with polycystic ovary syndrome. J Clin Endocrinol Metab 1997; 82: 2108-2116.10.1210/jc.82.7.2108Search in Google Scholar

[31] ELLGAARD L, HELENIUS A. ER quality control: towards an understanding at the molecular level. Curr Opin Cell Biol 2001; 13: 431-437.10.1016/S0955-0674(00)00233-7Open DOISearch in Google Scholar

[32] EPERON LP, GRAHAM IR, GRIFFITHS AD, EPERON IC. Effects of RNA secondary structure on alternative splicing of pre-mRNA: is folding limited to a region behind the transcribing RNA polymerase? Cell 1988; 54(3): 393-401.10.1016/0092-8674(88)90202-4Open DOISearch in Google Scholar

[33] FAIVRE S, DJELLOUL S, RAYMOND E. New paradigms in anticancer therapy: Targeting multiple signaling pathways with kinase inhibitors. Semin Oncol 2006; 33: 407-420.10.1053/j.seminoncol.2006.04.00516890796Open DOISearch in Google Scholar

[34] FEDERICI M, PORZIO O, ZUCARO L, et al. Distribution of insulin/insulin-like growth factor-I hybrid receptors in human tissues. Mol Cell Endocrinol 1997; 129: 121-126.10.1016/S0303-7207(97)04050-1Open DOISearch in Google Scholar

[35] FEDERICI M, LAURO D, D’ADAMO M, et al. Expression of insulin/IGF-I hybrid receptors is increased in skeletal muscle of patients with chronic primary hyperinsulinemia. Diabetes 1998; 47: 87-92.10.2337/diab.47.1.87Open DOISearch in Google Scholar

[36] FEDERICI M, PORZIO O, LAURO D, et al. Increased abundance of insulin/insulin-like growth factor-I hybrid receptors in skeletal muscle of obese subjects is correlated with in vivo insulin sensitivity. J Clin Endocrinol Metab 1998; 83: 2911-2915.10.1210/jc.83.8.2911Search in Google Scholar

[37] FOTI D, JULIANO R, CHIEFARI E, BRUNETTI A. A nucleoprotein complex containing Sp1, C/EBPβ, and HMGI-Y controls human insulin receptor gene transcription. Moll Cell Biol 2003; 23(8): 2720-2732.10.1128/MCB.23.8.2720-2732.2003Open DOISearch in Google Scholar

[38] FRASCA F, PANDINI G, SCIACCA L, et al. Insulin receptor isoform A, a newly recognized, high-affinity insulin-like growth factor II receptor in fetal and cancer cells. Mol Cell Biol 1999; 19: 3278-3288.10.1128/MCB.19.5.3278Search in Google Scholar

[39] FREYCHET P, ROTH J, NEVILLE Jr DM. Insulin receptors in the liver: specific binding of [125I]insulin to the plasma membrane and its relation to insulin bioactivity. Proc Natl Acad Sci USA 1971; 68(8): 1833-1837.10.1073/pnas.68.8.1833Search in Google Scholar

[40] GARG A, AGARWAL AK. Lipodystrophies: Disorders of adipose tissue biology. Biochem Biophys Acta 2009; 91(6): 507-513.10.1016/j.bbalip.2008.12.014Search in Google Scholar

[41] GHAZEERI G, KUTTEH WH, BRYER-ASH M, HAAS D, KE RW. Effect of rosiglitazone on spontaneous and clomiphene citrateinduced ovulation in women with polycystic ovary syndrome. Fertil Steril 2003; 79: 562-566.10.1016/S0015-0282(02)04843-4Open DOISearch in Google Scholar

[42] GIDDINGS SJ, CARNAGHI LR. Insulin receptor gene expression during development: developmental regulation of insulin receptor mRNA abundance in embryonic rat liver and yolk sac, developmental regulation of insulin gene splicing, and comparison to abundance of insulin-like growth factor 1 receptor mRNA. Mol Endocrinol 1992; 6(10): 1665-1672.Search in Google Scholar

[43] GIOVANNONE B, SCALDAFERRI ML, FEDERICI M. et al. Insulin receptor substrate (IRS) transduction system: distinct and overlapping signaling potential. Diabetes Metab Res Rev 2000; 16: 434-441.10.1002/1520-7560(2000)9999:9999<::AID-DMRR159>3.0.CO;2-8Open DOISearch in Google Scholar

[44] GOLLOB JA, SCOTT W, CARTER C, KELLEY SL. Role of Raf kinase in cancer: Therapeutic potential of targeting the Raf/Mek/Eerk signal transduction pathway. Sem Oncol 2006; 33: 392-406.10.1053/j.seminoncol.2006.04.002Open DOISearch in Google Scholar

[45] GRAVELEY BR. Mutually exclusive splicing of the insect Dscam pre-mRNA directed by competing intronic RNA secondary structures. Cell 2005; 123: 65-73.10.1016/j.cell.2005.07.028Open DOISearch in Google Scholar

[46] GUAN KL. The mitogen activated protein kinase signal transduction pathway: from the cell surface to the nucleus. Cell Signal 1994; 6: 581-589.10.1016/0898-6568(94)90041-8Open DOISearch in Google Scholar

[47] HAAS DA, CARR BR, ATTIA GR. Effects of metformin on body mass index, menstrual cyclicity, and ovulation induction in women with polycystic ovary syndrome. Fertil Steril 2003; 79: 469-481. 10.1016/S0015-0282(02)04800-8Open DOISearch in Google Scholar

[48] HANSEN T, BJØRBAEK C, VESTERGAARD H, GRØNSKOV K. Expression of insulin receptor spliced variants and their functional correlates in muscle from patients with non-insulin-dependent diabetes mellitus. J Clin Endocrinol Metab 1993; 77(6): 1500-1505.Search in Google Scholar

[49] HARDAWAY CA, GIBBS NF. What Syndrome Is This? Pediatr Dermatol 2002; 19(3): 267-270.10.1046/j.1525-1470.2002.00069.xSearch in Google Scholar

[50] HARRIS AM, HALL B, KRISS VM, FOWLKES JL, KIESSLING SG. Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. Pediatr Nephrol 2007; 22: 2141-2144.10.1007/s00467-007-0600-5Open DOISearch in Google Scholar

[51] HEGELE RA, ANDERSON CM, WANG J, JONES DC, CAO H. Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. Genome Res 2000; 10(5): 652-658.10.1101/gr.10.5.652Search in Google Scholar

[52] HELENIUS A, TROMBETTA ES, HEBERT DN, SIMONS JF. Calnexin, calreticulin and the folding of glycoproteins. Trends Cell Biol 1997; 7: 193-200.10.1016/S0962-8924(97)01032-5Search in Google Scholar

[53] HILLER M, ZHANG Z, BACKOFEN R, STAMM S. Pre-mRNA secondary structures influence exon recognition. PLoS Genet 2007; 3: c204.10.1371/journal.pgen.0030204Open DOISearch in Google Scholar

[54] HOEY T, WEINZIERL RO, GILL G, CHEN JL, DYNLACHT BD, TJIAN R. Molecular cloning and functional analysis of Drosophila TAF110 reveal properties expected of coactivators. Cell 1993; 72(2): 247-260.10.1016/0092-8674(93)90664-COpen DOISearch in Google Scholar

[55] HSU IR, KIM SP, KABIR M, BERGMAN RN. Metabolic syndrome, hyperinsulinemia, and cancer. Am J Clin Nutr 2007; 86(3): Suppl. 867-871.10.1093/ajcn/86.3.867SSearch in Google Scholar

[56] HU FB, MANSON JE, LIU S, et al. Prospective study of adult onset diabetes mellitus (type 2) and risk of colorectal cancer in women. J Natl Cancer Inst 1999; 91: 542-547.10.1093/jnci/91.6.542Open DOISearch in Google Scholar

[57] Insulin receptor no. 147670: defect in insulin receptor, with insulin resistant diabetes mellitus, acanthosis nigricans, and Type A. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Victor A. McKusick. 6/2/1986. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi? id=147670.Search in Google Scholar

[58] ISHII S, XU Y-H, STRATTON RH, ROE BA, MERLINO GT, PASTAN I. Characterization and sequence of the promoter region of the human epidermal growth factor receptor gene. PNAS 1985; 82(15): 4920-4924.10.1073/pnas.82.15.4920Open DOISearch in Google Scholar

[59] JOSPE N, ZHU J, LIU R, LIVINGSTON JN, FURLANETTO RW. Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity. J Clin Endocrinol Metab 1994; 79: 1294-1302.Search in Google Scholar

[60] KADOWAKI T, BEVINS CL, CAMA A, OJAMAA K, MARCUS-SAMUELS B, KADOWAKI H, BEITZ L, MCKEON C, TAYLOR SI. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science 1988; 240: 787-790.10.1126/science.2834824Search in Google Scholar

[61] KADOWAKI T, KADOWAKI H, RECHLER MM, SERRANO-RIOS M, ROTH J, GORDEN P, et al. Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest 1990; 86: 254-264.10.1172/JCI114693Open DOISearch in Google Scholar

[62] KAHN CR, FLIER JS, BAR RS, ARCHER JA, GORDEN P, MARTIN MM, ROTH J. The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. N Engl J Med 1976; 294: 739-745.10.1056/NEJM197604012941401Search in Google Scholar

[63] KALLO A, LAKATOS I, SZIJARTO L. Leprechaunism (Donohue’s syndrome). J Pediatr 1965; 66: 372-379.10.1016/S0022-3476(65)80195-0Open DOISearch in Google Scholar

[64] KARIN M, HASLINGER A, HOLTGREVE H, RICHARDS RI, KRAUTER P, WESTPHAL HM, BEATO M. Characterization of DNA sequences through which cadmium and glucocorticoid hormones induce human metallothionein-IIA gene. Nature 1984; 308(5959): 513-519.10.1038/308513a06323998Search in Google Scholar

[65] KELLERER M, SESTI G, SEFFER B, OBERMAIER-KUSSER DE, PONGRATZ L, MOSTHAF L, HARING HU. Altered pattern of insulin receptor isotypes in skeletal muscle membranes of type 2 (non-insulin-dependent) diabetic subjects. Diabetologia 1993; 36: 628-632.10.1007/BF004040728359580Open DOISearch in Google Scholar

[66] KIM HS, LEE JK, TSAI SY. E1a activation of insulin receptor gene expression is mediated by Sp1- binding sites. Mol Endocrinol 1994; 9: 178-186.Search in Google Scholar

[67] KIM SH, MOORES JC, DAVID D, RESPESS JG, JOLLY DJ, FRIEDMANN T. The organization of the human HPRT gene. Nucleic Acids Res 1986; 14(7): 3130-3118.10.1093/nar/14.7.3103Search in Google Scholar

[68] KIRBY E, BEALS D. Fibroepithelial papillomatosis (“skin tags”) in Rabson-Mendenhall syndrome. J Pediatr Surg 2008; 43: E21-E26. 10.1016/j.jpedsurg.2008.01.001Open DOISearch in Google Scholar

[69] KOLCH W. Meaningful relationships: The regulation of the Ras/Raf/Mek/Erk pathway by protein interaction. Biochem J 2000; 351: 289-305.10.1042/0264-6021:3510289Open DOISearch in Google Scholar

[70] KOSAKI A, WEBSTER NJ. Effect of dexamethasone on the alternative splicing of the insulin receptor mRNA and insulin action in HepG2 hepatoma cells. J Biol Chem 1993; 268(29): 21990-21996.10.1016/S0021-9258(20)80638-3Search in Google Scholar

[71] KOSAKI A, PILLAY TS, XU L, WEBSTER NJG. The B isoform of the insulin receptor signals more efficiently than the A isoform in HepG2 cells. J Biol Chem 1995; 35(1): 20816-20823.10.1074/jbc.270.35.20816Open DOISearch in Google Scholar

[72] KOSAKI A, NELSON J, WEBSTER NJG. Identification of intron and exon sequences involved in alternative splicing of insulin receptor pre-mRNA. J Biol Chem 1998; 273: 10331-10337.10.1074/jbc.273.17.10331Open DOISearch in Google Scholar

[73] KRISTENSEN C, WIBERG FC, SCHAFFER L, ANDERSEN AS. Expression and characterization of a 70-kDa fragment of the insulin receptor that binds insulin. J Biol Chem 1998; 273: 17780-17786.10.1074/jbc.273.28.17780Search in Google Scholar

[74] KUO H-C, NASIM FH, GRABOWSKI PJ. Control of alternative splicing by the differential binding of U1 small nuclear ribonucleoprotein particle. Science 1991; 252: 1045-1050.10.1126/science.1825520Open DOISearch in Google Scholar

[75] LANGLOIS WJ, SASAOKA T, YIP CC, OLEFSKY JM. Functional characterization of hybrid receptors composed of a truncated insulin receptor and wild type insulin-like growth factor 1 or insulin receptor. Endocrinology 1995; 136: 1978-1986.10.1210/endo.136.5.7720646Search in Google Scholar

[76] LEE JK, TAM JW, TSAI MJ, TSAI SY. Identification of cis- and trans-acting factors regulating the expression of the human insulin receptor gene. J Biol Chem 1992; 267(7): 4638-4645.10.1016/S0021-9258(18)42881-5Search in Google Scholar

[77] LEITNER JW, KLINE T, CAREL K, et al. Hyperinsulinemia potentiates activation of p21Ras by growth factors. Endocrinology 1997; 138: 2211-2214.10.1210/endo.138.5.5240Search in Google Scholar

[78] Leprechaunism no. 246200: defect in insulin receptor, with Donohue syndrome. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Victor A. McKusick: 6/3/1986. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246200.Search in Google Scholar

[79] LIU K, STAMLER J, MOSS D, et al. Dietary cholesterol, fat, and fibre, and colon-cancer mortality. An analysis of international data. Lancet 1979; 2: 782-785.10.1016/S0140-6736(79)92126-3Open DOISearch in Google Scholar

[80] LONGO N, WANG Y, SMITH SA, LANGLEY SD, DIMEGLIO LA, GIANELLA-NETO D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet 2002; 11(12): 1465-1475.10.1093/hmg/11.12.146512023989Open DOISearch in Google Scholar

[81] MAMULA PW, MC DONALD AR, BRUNETTI A, OKABAYASHI Y, WONG KY, MADDUX BA, LOGSDON C, GOLDFINE ID. Regulating insulin-receptor-gene expression by differentiation and hormones. Diabetes Care 1990; 13(3): 288-301.10.2337/diacare.13.3.2882407479Open DOISearch in Google Scholar

[82] MARINO-BUSLJE C, MARTIN-MARTINEZ M, MIZUGUCHI K, SIDDLE K, BLUNDELL TL. The insulin receptor: from protein sequence to structure. Biochem Soc Trans 1999; 27: 715-726.10.1042/bst027071510917671Search in Google Scholar

[83] MC CLAIN DA. Different ligand affinities of the two insulin receptor splice variants are reflected in parallel changes in sensitivity for insulin action. Mol Endocrinol 1991; 5: 734-739.10.1210/mend-5-5-7342072930Open DOISearch in Google Scholar

[84] MC DONALD AR, MADDUX BA, OKABAYASHI Y, WONG KY, HAWLEY DM, LOGSDON CD, GOLDFINE ID. Regulation of insulin-receptor mRNA levels by glucocorticoids. Diabetes 1987; 36(6):779-781.10.2337/diab.36.6.7793569675Open DOISearch in Google Scholar

[85] MC KEON C, ACCILI D, CHEN H, PHAM T, WALKER GE. A conserved region in the first intron of the insulin receptor gene binds nuclear proteins during adipocyte differentiation. Biochem Biophys Res Commun 1997; 240: 701-706.10.1006/bbrc.1997.77259398630Search in Google Scholar

[86] MC KEOWN M. Alternative mRNA splicing. Annu Rev Cell Biol 1992; 8: 133-155.10.1146/annurev.cb.08.110192.0010251335742Search in Google Scholar

[87] MC KERN NM, LAWRENCE MC, STRELTSOV VA, LOU MZ, ADAMS TE, LOVRECZ GO, ELLEMAN TC, RICHARDS KM, BENTLEY JD, PILLING PA, et al. Structure of the insulin receptor ectodomain reveals a folded-over conformation. Nature 2006; 443: 218-221.10.1038/nature0510616957736Search in Google Scholar

[88] MILOS PM, ZARET KS. A ubiquitous factor is required for C/EBP-related proteins to form stable transcription complexes on an albumin promoter segment in vitro. Genes Dev 1992; 6: 991-1004.10.1101/gad.6.6.9911592265Open DOISearch in Google Scholar

[89] MINK PJ, SHAHAR E, ROSAMOND WD, et al. Serum insulin and glucose levels and breast cancer incidence: the Atherosclerosis Risk in Communities study. Am J Epidemiol 2002; 156: 349-352.10.1093/aje/kwf05012181105Open DOISearch in Google Scholar

[90] MOGHETTI P, CASTELLO R, NEGRI C, TOSI F, PERRONE F, CAPUTO M, ZANOLIN E, MUGGEO M. Metformin effects on clinical features, endocrine and metabolic profiles, and insulin sensitivity in polycystic ovary syndrome: a randomized, double-blind, placebo controlled 6-month trial, followed by open, long-term clinical evaluation. J Clin Endocrinol Metab 2000; 85: 139-146 Search in Google Scholar

[91] MOLLER DE, YOKOTA A, CARO JF, FLIER JS. Tissue-specific expression of two alternatively spliced insulin receptor mRNAs in man. Mol Endocrinol 1989; 3: 1263-1269.10.1210/mend-3-8-12632779582Open DOISearch in Google Scholar

[92] MOLLER DE, YOKOTA A, PAZIANOS A, FLIER JS. A missense mutation in one allele of the tyrosine kinase domain of the insulin receptor gene is associated with dominantly inherited insulin resistance. (Abstract) Clin Res 1990; 38: 435A.Search in Google Scholar

[93] MOLLER DE, COHEN O, YAMAGUCHI Y, ASSIZ R, GRIGORESCU F, EBERLE A, MORROW LA, MOSES AC, FLIER JS. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Diabetes 1994; 43: 247-255.10.2337/diab.43.2.2478288049Open DOISearch in Google Scholar

[94] MOSTHAF L, GRAKO D, DULL TJ, COUSSENS L, ULLRICH A, MC CLAIN DA. Functionally distinct insulin receptors generated by tissue-specific alternative splicing. EMBO J 1990; 9: 2409-2413.10.1002/j.1460-2075.1990.tb07416.x5522652369896Search in Google Scholar

[95] MOSTHAF L, VOGT H, HARING U, ULLRICH A. Altered expression of insulin receptor types A and B in the skeletal muscle of non-insulin-dependent diabetes mellitus patients. Proc Natl Acad Sci USA 1991; 88: 4728-4730.10.1073/pnas.88.11.4728517391711209Open DOISearch in Google Scholar

[96] MURPHY TK, CALLE EE, RODRIGUEZ C, et al. Body mass index and colon cancer mortality in a large prospective study. Am J Epidemiol 2000; 152: 847-854.10.1093/aje/152.9.84711085396Open DOISearch in Google Scholar

[97] MUSSO C, COCHRAN E, MORAN SA, SKARULIS MC, ORAL EA, TAYLOR SI, GORDEN P. Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30 years prospective. Medicine (Baltimore) 2004; 83: 209-222.10.1097/01.md.0000133625.73570.5415232309Search in Google Scholar

[98] MUSSO C, COCHRAN E, JAVOR E, YOUNG J, DEPAOLI AM, GORDEN P. The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients. Metabolism 2005; 54: 255-263.10.1016/j.metabol.2004.08.02115690321Open DOISearch in Google Scholar

[99] MUSSO C, SHAWKER T, COCHRAN E, JAVOR ED, YOUNG J, GORDEN P. Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth. Clin Endocrinol 2005; 63: 73-78.10.1111/j.1365-2265.2005.02302.x15963065Open DOISearch in Google Scholar

[100] MÜLLER-WIELAND D, VAN DER VORM ER, STREICHER R, KRONE W, SEEMANOVA E, DREYER M, RÜDIGER HW, ROSIPAL SR, MAASSEN JA. An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome Diabetologia 1993; 36: 1168-1174.10.1007/BF00401062Open DOISearch in Google Scholar

[101] NELSON KK, GREEN MR. Mechanism for cryptic splice site activation during pre-mRNA splicing. Proc Natl Acad USA 1990; 87: 6253-6525.10.1073/pnas.87.16.6253Open DOISearch in Google Scholar

[102] NELSON VL, QIN KN, ROSENFIELD RL, WOOD JR, PENNING TM, LEGRO RS, STRAUSS JF, MC ALLISTER JM. The biochemical basis for increased testosterone production in theca cells propagated from patients with polycystic ovary syndrome. J Clin Endocrinol Metab 2001; 86: 5925-5933.10.1210/jcem.86.12.8088Open DOISearch in Google Scholar

[103] NESTLER JE. Role of hyperinsulinemia in the pathogenesis of the polycystic ovary syndrome, and its clinical implications. Semin Reprod Endocrinol 1997; 15: 111-122.10.1055/s-2007-1016294Open DOISearch in Google Scholar

[104] NORGREN S, ZIERATH J, WEDELL A, WALLEBERG-HENRIKSSON H, LUTHMAN H. Regulation of human insulin receptor RNA splicing in vivo. Proc Natl Acad Sci USA 1994; 91: 1465-1469.10.1073/pnas.91.4.1465Open DOISearch in Google Scholar

[105] NORGREN S, LI LS, LUTHMAN H. Regulation of human insulin receptor RNA splicing in HepG2 cells: effects of glucocorticoid and low glucose concentration. Biochem Biophys Res Commun 1994; 199: 277-284.10.1006/bbrc.1994.1225Open DOISearch in Google Scholar

[106] NORGREN S, ZIERATH J, GALUSKA D, WALLBERG-HENRIKSSON H, LUTHMAN H. Differences in the ratio of RNA encoding two isoforms of the insulin receptor between control and NIDDM patients. The RNA variant without Exon 11 predominates in both groups. Diabetes 1993; 42: 675-681.10.2337/diab.42.5.675Search in Google Scholar

[107] OLSON TS, BAMBERGER MJ, LANE MD. Post-translational changes in tertiary and quaternary structure of the insulin proreceptor: correlation with acquisition of function. J Biol Chem 1998; 263: 7342-7351.10.1016/S0021-9258(18)68648-XSearch in Google Scholar

[108] ORAL EA, SIMHA V, RUIZ E, ANDEWELT A, PREMKUMAR A, SNELL P, WAGNER AJ, DEPAOLI AM, REITMAN ML, TAYLOR SI, GORDEN P, GARG A. Leptin-replacement therapy for lipodystrophy. N Engl J Med 2002; 346: 570-578. 10.1056/NEJMoa01243711856796Search in Google Scholar

[109] ORAL EA, RUIZ E, ANDEWELT A, SEBRING N, WAGNER AJ, DE PAOLI AM, GORDEN P. Effect of leptin replacement on pituitary hormone regulation in patients with severe lipodystrophy. J Clin Endocrinol Metab 2002; 87: 3110-3117.10.1210/jcem.87.7.859112107209Open DOISearch in Google Scholar

[110] OŚWIĘCIMSKA J, ZIORA K, DYDUCH A. Lipodystrofia nabyta i wrodzona. Endokrynologia, Otyłość i Zaburzenia Przemiany Materii 2006; 2(1): 22-29.Search in Google Scholar

[111] PAYNE VA, GRIMSEY N, TUTHILL A, VIRTUE S, GRAY SL, DALLA NORA E, SEMPLE RK, O'RAHILLY S, ROCHFORD JJ. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes 2008; 57(8): 2055-2060.10.2337/db08-0184249468718458148Open DOISearch in Google Scholar

[112] PELLECANI A, CHIN M T, WIESEL P, IBANEZ M, PATEL A, YET S-F, HSIEH C-M, PAULAUSKIS JD, REEVES R, LEE M-E, PERRELLA MA. Induction of high mobility group- I(Y) protein by endotoxin and interleukin-1ß in vascular smooth muscle cells. J Biol Chem 1999; 274: 1525-1532.10.1074/jbc.274.3.15259880529Open DOISearch in Google Scholar

[113] RABSON SM, MENDENHALL EN. Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. Am J Clin Pathol 1956; 26: 283-290.10.1093/ajcp/26.3.28313302174Search in Google Scholar

[114] Rabson-Mendenhall syndrome. 262190: Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Creation date - Victor A. McKusick: 6/4/1986. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi? id=262190.Search in Google Scholar

[115] ROMUALDI D, GUIDO M, CIAMPELLI M, GIULIANI M, LEONI F, PERRI C, LANZONE A. Selective effects of pioglitazone on insulin and androgen abnormalities in normo- and hyperinsulinaemic obese patients with polycystic ovary syndrome. Hum Reprod 2003; 18: 1210-1218.10.1093/humrep/deg26412773448Open DOISearch in Google Scholar

[116] ROSE DP, KOMNINOU D, STEPHENSON GD. Obesity, adipocytokines, and insulin resistance in breast cancer. Obes Rev 2004; 5(3): 153-165.10.1111/j.1467-789X.2004.00142.x15245384Open DOISearch in Google Scholar

[117] ROSENSTEIN ED, ADVANI S, REITZ RE, KRAMER N. The prevalence of insulin receptor antibodies in patients with systemic lupus erythematosus and related conditions. J Clin Rheumatol 2001; 7: 371-373.10.1097/00124743-200112000-0000417039177Open DOISearch in Google Scholar

[118] ROTH SI, SCHEDEWIE HK, HERZBERG VK, OLEFSKY J, ELDERS MJ, RUBENSTEIN A. Cutaneous manifestations of leprechaunism. Arch Dermatol 1981; 117: 531-535.10.1001/archderm.1981.01650090013015Open DOISearch in Google Scholar

[119] RUBIN CM, HOUCK CM, DENINIGER PL, FRIEDMANN T, SCHMID CW. Partial nucleotide sequence of the 300-nucleotide interspersed repeated human DNA sequences. Nature 1980; 284: 372-374.10.1038/284372a06244506Open DOISearch in Google Scholar

[120] RUDDON RW, BEDOWS E. Assisted protein folding. J Biol Chem 1997; 272: 3125-3128.10.1074/jbc.272.6.31259081984Open DOISearch in Google Scholar

[121] RUDMAN D, FELLER AG, NAGRAJ HS, et al. Effects of human growth hormone in men over 60 years old. N Engl J Med 1990; 323: 1-6.10.1056/NEJM1990070532301012355952Search in Google Scholar

[122] SAITOH T, YANAGITA T, SHIRAISHI S, YOKOO H, KOBAYASHI H, MINAMI S-I, ONITSUKA T, WADA A. Down-regulation of cell surface insulin receptor and insulin receptor substrate-1 phosphorylation by inhibitor of 90-kDa Heat-Shock Protein family: endoplasmic reticulum retention of monomeric insulin receptor precursor with calnexin in adrenal chromaffin cells. Mol Pharmacol 2002; 62(4): 847-855.10.1124/mol.62.4.847Search in Google Scholar

[123] SAKATA S, KOBAYASHI M, MIURA K, ATASSI MZ. Molecular recognition of human insulin receptor by autoantibodies in a human serum. Immunol Invest 1988; 17: 237-242.10.3109/08820138809052963Open DOISearch in Google Scholar

[124] SALMERON J, ASCHERIO A, RIMM E. Dietary fiber, glycemic load, and risk of NIDDM in men. Diabetes Care 1997; 20: 545.10.2337/diacare.20.4.545Open DOISearch in Google Scholar

[125] SAWKA-VERHELLE D, TARTARE-DECKERT S, WHITE MF, VAN OBBERGHEN E. Insulin receptor substrate-2 binds to the insulin receptor through its phosphotyrosine-binding domain and through a newly identified domain comprising amino acid J Biol Chem 1996; 271: 5980-5983.10.1074/jbc.271.11.5980Search in Google Scholar

[126] SAVKUR RS, PHILIPS AV, COOPER TA. Abberant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001; 29: 40-47.10.1038/ng704Open DOISearch in Google Scholar

[127] SCHLESSINGER J. Ligand-induced, receptor-mediated dimerization and activation of EGF receptor. Cell 2002; 110: 669-672.10.1016/S0092-8674(02)00966-2Open DOISearch in Google Scholar

[128] SCIACCA L, COSTANTINO A, PANDINI G, et al. Insulin receptor activation by IGF-II inbreast cancer: evidence for a new autocrine/paracrine mechanism. Oncogene 1999; 18: 2471-2479.10.1038/sj.onc.1202600Open DOISearch in Google Scholar

[129] SEELY BL, REICHART DR, TAKATA Y, YIP CC, OLEFSKY JM. A functional assessment of insulin/insulin-like growth factor-I hybrid receptors. Endocrinology 1995; 136: 1635-1641. 10.1210/endo.136.4.7895674Search in Google Scholar

[130] SEINO S, BELL GI. Alternative splicing of human insulin receptor messenger RNA. Biochem Biophys Res Commun 1989; 159: 312-316.10.1016/0006-291X(89)92439-XOpen DOISearch in Google Scholar

[131] SEINO S, SEINO M, NISHI S, BELL GI. Structure of the human insulin receptor gene and of its promoter. Proc Natl Acad Sci USA 1989; 86: 114-118.10.1073/pnas.86.1.1142864142911561Open DOISearch in Google Scholar

[132] SELL SM, REESE D, OSSOWSKI VM. Insulin-inducible changes in insulin receptor mRNA splice variants. J Biol Chem 1994; 269: 30769-30772.10.1016/S0021-9258(18)47346-2Search in Google Scholar

[133] SEN S, TALUKDAR I, WEBSTER NJG. SRp20 and CUG-BP1 modulate insulin receptor exon 11 alternative splicing. Moll Cell Biol 2009; 29(3): 871-880.10.1128/MCB.01709-08Search in Google Scholar

[134] SESTI G, MARINI MA, MONTEMURRO A, et al. Evidence that two naturally occuring human insulin receptor alpha-subunit variants are immunologically distinct. Diabetes 1992; 41: 6-11.10.2337/diab.41.1.6Open DOISearch in Google Scholar

[135] SESTI G, TULLIO AN, MARINI MA, et al. Role of the exon 11 of the insulin receptor gene on insulin binding identified by antipeptide antibodies. Moll Cell Endocrinol 1994; 101: 121-127.10.1016/0303-7207(94)90226-7Search in Google Scholar

[136] SESTI G, TULLIO AN, D’ALFONSO R, et al. Tissue-specific expression of two alternatively spliced isoforms of the human insulin receptor protein. Acta Diabetologica 1994; 31: 59-65.10.1007/BF00570536Open DOISearch in Google Scholar

[137] SESTI G, FEDERICI M, LAURO D, SBRACCIA P, LAURO R. Molecular mechanism of insulin resistance in type 2 diabetes mellitus: role of the insulin receptor variant forms. Diabetes Metab Res Rev 2001; 17: 363-373.10.1002/dmrr.225Open DOISearch in Google Scholar

[138] SIMHA V, GARG A. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol 2009; 20(4): 300-308.10.1097/MOL.0b013e32832d4a33Open DOISearch in Google Scholar

[139] SINGER-SAM J, KEITH DH, TANI K, SIMMER RL, SHIVELY L, LINDSAY S, YOSHIDA A, RIGGS AD. Sequence of the promoter region of the gene for human X-linked 3-phosphoglycerate kinase. Gene 1984; 32: 409-417.10.1016/0378-1119(84)90016-7Open DOISearch in Google Scholar

[140] SINGH NN, SINGH RN, ANDROPHY EJ. Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. Nucleic Acids Res 2007; 35(2):371-389.10.1093/nar/gkl1050Search in Google Scholar

[141] SKUPIEŃ J, MAŁECKI MT. Rozbudowywanie podziału cukrzycy - nowe podtypy i możliwości lecznicze. Diabetologia Praktyczna 2007; 8(1): 1-12.Search in Google Scholar

[142] SOLNICK D. Alternative splicing caused by RNA secondary structure. Cell 1985; 43: 667-676.10.1016/0092-8674(85)90239-9Open DOISearch in Google Scholar

[143] SOLNICK D, LEE SI. Amount of RNA secondary structure required to induce an alternative splice. Moll Cell Biol 1987; 7: 3194-3198.Search in Google Scholar

[144] SOOS MA, FIELD CE, SIDDLE K. Purified hybrid insulin/insulin-like growth factor-I receptors bind insulin-line growth factor-I but not insulin, with high affinity. Biochem J 1993; 290: 419-426.10.1042/bj2900419Search in Google Scholar

[145] STANDAERT ML, SCHIMMEL SD, POLLET RJ. The development of insulin receptors and responses in the differentiating non-fusing muscle cell line BC3H-1. J Biol Chem 1984; 259: 2337-2345.10.1016/S0021-9258(17)43357-6Search in Google Scholar

[146] STEFANOVSKY VY, PELLETIER G, HANNAN R, GAGNON-KUGLER T, ROTHBLUM LI, MOSS T. An immediate reponse of ribosomal transcription to growth factor stimulation in mammals is mediated by ERK phosphorylation of UBF. Mol Cell 2001; 8: 1063-1073.10.1016/S1097-2765(01)00384-7Open DOISearch in Google Scholar

[147] SZYMANSKI KM, BINNS D, BARTZ R, GRISHIN NV, LI WP, AGARWAL AK, GARG A, ANDERSON RG, GOODMAN JM. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci USA 2007; 104(52): 20890-20895.10.1073/pnas.0704154104Open DOISearch in Google Scholar

[148] TALUKDAR I, SEN S, WEBSTER N. SRp20, hnRNP A1 and F regulate alternative splicing of insulin receptor via binding to the intronic regulatory elements. FASEB J 2008; 22: 601.1.10.1096/fasebj.22.1_supplement.601.1Search in Google Scholar

[149] TANIGUCHI CM, EMANUELLI B, KHAN CR. Critical nodes in signalling pathways: insights into insulin action. Nat Rev Mol Cell Biol 2006; 7: 85-96.10.1038/nrm1837Open DOISearch in Google Scholar

[150] TEWARI DS, COOK DM, TAUB R. Characterization of the promoter region and 3’ end of the human insulin receptor gene. J Biol Chem 1989; 264(27): 16238-16245.10.1016/S0021-9258(18)71612-8Search in Google Scholar

[151] THIEL CT, KNEBEL B, KNERR I, STICHT H, MÜLLER-WIELAND D, ZENKER M, REIS A, DÖRR H-G, RAUCH A. Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. Mol Genet Metab 2008; 94: 356-362.10.1016/j.ymgme.2008.02.013Open DOISearch in Google Scholar

[152] TUTHILL A, SEMPLE RK, DAY R, SOOS M, SWEENEY E, SEYMOUR PJ, DIDI M, O’RAHILLY S. Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. Clin Endocrinol 2007; 66: 21-26. Search in Google Scholar

[153] ULLRICH A, BELL JR, CHEN EY, HERRERA R, PETRUZZELLI LM, DULL TJ, GRAY A, COUSSENS L, LIAO YC, TSUBOKAWA M, et al. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 1985; 313: 756-761.10.1038/313756a0Open DOISearch in Google Scholar

[154] VOGT B, CARRASCOSA JM, ERMEL B, ULLRICH A, HARING HU. The two isotypes of the human insulin receptor (HIR-A and HIR-B) follow different internalization kinetics. Biochem Biophys Res Commun 1991; 177: 1013-1018.10.1016/0006-291X(91)90639-OOpen DOISearch in Google Scholar

[155] VOJTEK AB, DER CJ. Increasing complexity of the Ras signaling pathway. J Biol Chem 1998; 273: 19925-19928.10.1074/jbc.273.32.19925Open DOISearch in Google Scholar

[156] VELAZQUEZ EM, MENDOZA S, HAMER T, SOSA F, GLUECK CJ. Metformin therapy in polycystic ovary syndrome reduces hyperinsulinemia, insulin resistance, hyperandrogenemia, and systolic blood pressure, while facilitating normal menses and pregnancy. Metabolism 1994; 43: 647-654.10.1016/0026-0495(94)90209-7Open DOISearch in Google Scholar

[157] WALDHAUSER F, WEISSENBACHER G, FRISCH H, POLLAK A. Pulsatile secretion of gonadotropins in early infancy. Eur J Pediatr 1981; 137: 71-74.10.1007/BF00441173Open DOISearch in Google Scholar

[158] WEBSTER NJG, EVANS L-G, CAPLES M, ERKER L, CHEW SL. Assembly of splicing complexes on exon 11 of the human insulin receptor gene does not correlate with splicing efficiency in-vitro. BMC Mol Biol 2004; 5(7).10.1186/1471-2199-5-7Open DOISearch in Google Scholar

[159] WHITE MF. The insulin signaling system and the IRS proteins. Diabetologia 1997; 40: Suppl. 2-17.10.1007/s001250051387Open DOISearch in Google Scholar

[160] WHITE MF, KAHN CR. The insulin signaling system. J Biol Chem 1994; 269: 1-4.10.1016/S0021-9258(17)42297-6Search in Google Scholar

[161] YAMAGUCHI Y, FLIER JS, YOKOTA A, BENECKE H, BACKER JM, MOLLER DE. Functional properties of two naturally occurring isoforms of the human insulin receptor in Chinese hamster ovary cells. Endocrinology 1991; 129: 2058-2066.10.1210/endo-129-4-20581655392Open DOISearch in Google Scholar

[162] YAMAGUCHI Y, FLIER JS, BENECKE H, RANSIL BJ, MOLLER DE. Ligand-binding properties of the two isoforms of the human insulin receptor. Endocrinology 1993; 132: 1132-1138.10.1210/endo.132.3.84401758440175Search in Google Scholar

[163] ZYROMSKI NJ, MATHUR A, PITT HA, WADE TE, WANG S, NAKSHATRI P, SWARTZBASILE DA, NAKSHATRI H. Obesity potentiates the growth and dissemination of pancreatic cancer. Surgery 2009; 146(2): 258-263 10.1016/j.surg.2009.02.02419628082Open DOISearch in Google Scholar

eISSN:
2544-3577
Language:
English
Publication timeframe:
4 times per year
Journal Subjects:
Life Sciences, Molecular Biology, Biochemistry