Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): A 30-year prospective

Medicine

Volumn 83, Issue 4, 2004, Pages 209-222

  Musso, Carla ^a   Cochran, Elaine ^a   Moran, Stephanie Ann ^a,b   Skarulis, Monica C ^a   Arioglu Oral, Elif ^a,c   Taylor, Simeon ^a   Gorden, Phillip ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b BRISTOL MYERS SQUIBB   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; GLITAZONE DERIVATIVE; GLUCOSE; INSULIN; INSULIN RECEPTOR; METFORMIN; RECOMBINANT LEPTIN; SOMATOMEDIN C; TESTOSTERONE; UNCLASSIFIED DRUG;

ACANTHOSIS NIGRICANS; ADOLESCENT; ADULT; ARTICLE; BODY WEIGHT; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL TRIAL; DIABETES MELLITUS; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GLUCOSE BLOOD LEVEL; HUMAN; HYPERANDROGENISM; HYPERGLYCEMIA; HYPERINSULINEMIA; IMPAIRED GLUCOSE TOLERANCE; INSULIN BLOOD LEVEL; INSULIN METABOLISM; INSULIN RECEPTOR GENE; INSULIN RESISTANCE; INSULIN RESISTANCE TYPE A; INSULINEMIA; LEPRECHAUNISM; MALE; METABOLIC SYNDROME X; MORBIDITY; MORTALITY; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; OVARIECTOMY; OVARY POLYCYSTIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROBABILITY; PROSPECTIVE STUDY; RABSON MENDENHALL SYNDROME; SCHOOL CHILD; SYNDROME DELINEATION; TESTOSTERONE BLOOD LEVEL;

ACANTHOSIS NIGRICANS; ADOLESCENT; ADULT; CHILD; FEMALE; FOLLOW-UP STUDIES; HIRSUTISM; HUMANS; HYPERANDROGENISM; INSULIN RESISTANCE; MALE; MUTATION; POLYCYSTIC OVARY SYNDROME; RECEPTOR, INSULIN; SYNDROME; TIME FACTORS;

EID: 3242714887     PISSN: 00257974     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.md.0000133625.73570.54     Document Type: Article

References (98)

1. Accili D, Frapier C, Mosthaf L, McKeon C, Elbein SC, Permutt MA, Lander E, Ullrich A, Taylor SI. A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin resistant diabetes. EMBO J. 1989;8:2509-2517.
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.
3. 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). Medicine (Baltimore). 2002;81:87-100.
4. Arioglu E, Rother KI, Reitman ML, Premkumar A, Taylor S. Lipoatrophy syndromes: When too little fat is a clinical problem [review]. Pediatr Diabetes. 2000;1:155-168.
5. Backeljauw PF, Alves C, Eidson M, Cleveland W, Underwood LE, Davenport M. Effect of intravenous insulin-like growth factor I in two patients with leprechaunism. Pediatr Res. 1994;36:749-754.
6. Bar RS, Muggeo M, Kahn CR, Gorden P, Roth J. Characterization of insulin receptor in patients with the syndromes of insulin resistance and acanthosis nigricans. Diabetologia. 1980;18,209-216.
7. Bar RS, Muggeo M, Roth J, Kahn RC, Havrankova J, McGinley JI. Insulin resistance, acanthosis nigricans and normal insulin receptors in a young woman: Evidence for a postreceptor defect. J Clin Endocrinol Metab. 1978;47:620-625.
8. 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 electophoresis. Diabetes. 1992;41:408-415.
9. Barbieri RL, Ryan KJ. Hyperandrogenism, insulin resistance and acanthosis nigricans syndrome: A common endocrinopathy with distinct pathophysiologic features. Am J Obstet Gynecol. 1983;147:90-101.
10. Bames ND, Palumbo PJ, Hayles AB, Folgar H. Insulin resistance, skin changes and virilization: A recessively inherited syndrome possibly due to pineal gland dysfuntion. Diabetologia. 1974;10:285-289.
11. Barroso I, Gurnell M, Crowley VEF, Agostini M, Schwabe JW, Soos MA, Williams TDM, Lewis H, Schafer AJ, Chatterjee VKK, O'Rahilly S. Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension. Nature. 1999;402:880-883.
12. Brunetti A, Brunetti L, Foti D, Accili D, Goldfine ID. Human diabetes associated with defects in nuclear regulatory proteins for the insulin receptor gene. J Clin Invest. 1996;97:258-262.
13. Cama A, Sierra ML, Ottini L, Kadowaki T, Gorden P, McGinley IJ, Taylor SI. A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman. J Clin Endocrinol Metab. 1991;73:894-901.
14. Cochran E, Young JR, Sebring N, DePaoli A, Oral EA, Gorden P. Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. J Clin Endocrinol Metab. 2004;89:1548-1554.
15. Der Kaloustian VM, Nabil M, Kronfol MN, Takla R, Habash A, Khazin A, Najjar SS. Leprechaunism: A report of two new cases. Am J Dis Child. 1971;122:442-445.
16. Desbois-Mouthon C, Girodon E, Ghanem N, Caron M, Pennerath A, Conteville P, Magre J, Besmond C, Goossens M, Capeau J, Amselem S. Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families. Prenat Diagn. 1997;17:657-663.
17. Desbois Mouthon C, Sert-Langeron C, Magre J, Oreal E, Blivet MJ, Flori E, Besmond C, Capeau J, Caron M. Deletion of Asn281 in the α-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization. J Clin Endocrinol Metab. 1996;81:719-727.
18. Desbois-Mouthon CH, Magre J, Duprey J, Caron M, Blivet-Van Eggelpoel MJ, Daubas C, Gourmelen M, Chevallier B, Riskalla S, Robert JJ, Capeau J. Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-Tyr) in the insulin receptor α-subunit. Pediatr Res. 1997;42:72-77.
19. Donohue WL, Uchida IA. Leprechaunism: A euphuism for a rare familial disorder. J Pediatr. 1954;45:505-519.
20. Dunaif A, Graf M, Mandeli J, Laumas V, Dobrjansky A. Characterization of groups of hyperandrogenic women with acanthosis nigricans, impaired glucose tolerance, and/or hyperinsulinemia. J Clin Endocrinol Metab. 1987;65:499-507.
21. Dunaif A. Insulin resistance and the polycystic ovary syndrome: Mechanism and implications for pathogenesis. Endocr Rev. 1997;18:774-800.
22. Flier SJ, Eastman RC, Kenneth L, Minaker KL, Matteson D, Rowe JW. Acanthosis nigricans in obese women with hyperandrogenism. Diabetes. 1985;34:101-107.
23. George S, Johansen A, Soos MA, Mortensen H, Gammeltoft V, Saudek K, Siddle L, Hansen L, O'Rahilly S. Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject. Endocrinology. 2003;144:631-637.
24. Grigorescu F, Flier JS, Kahn R. Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance. Diabetes. 1986;35:127-138.
25. Grunberger G, Comi RJ, Taylor SI, Gorden P. Tyrosine kinase activity of the insulin receptor of patients with type A extreme insulin resistance: Studies with circulating mononuclear and cultured lymphocytes. J Clin Endocrinol Metab. 1984;59:1152-1158.
26. Grunberger G, McElduff A, Podskalny JM, Comi R, Taylor SI, Gorden P. Structure of the insulin receptor and post-receptor events in cells from a type A insulin-resistant patient with normal α-subunit but defective function of the β-subunit of the insulin receptor. Trans Assoc Am Physicians. 1985;98:171-181.
27. Grunberger G, Taylor S, Dons RF, Gorden P. Insulin receptors in normal and disease states. Clin Endocrinol Metab. 1983;12:191-219.
28. Grunberger G, Zick Y, Gorden P. Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding. Science. 1984;223:932-934.
29. 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.
30. Hamer I, Foti M, Emkey R, Cordier-Bussat J, Philippe J, De Meyts P, Maeder C, Kahn CR, Carpentier JL. An arginine to cysteine 252 mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events. Diabetologia. 2002;45:657-667.
31. Hart LM, Lindhout D, Van der Zon GC, Kayserilli H, Apak MY, Kleijer WJ, Van der Vorm ER, Maassen JA. An insulin receptor mutant (Asp707→Ala) involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin. J Biol Chem. 1996;271:18719-18724.
32. Haruta T, Takata Y, Iwanishi M, Maegawa H, Imamura T, Egawa K, Itazu T, Kobayashi M. Domain of insulin receptor causes defective kinase activity and insulin resistance. Diabetes. 1993;42:1837-1844.
33. Hone J, Accili D, Al-Gazali LI, Lestringent G, Orban T, Taylor S. Homozygosity for a new mutation (Ile 119→Met) in the insulin receptor gene in five sibs with familial insulin resistance. J Med Genet. 1994;31:715-716.
34. Hone J, Accili D, Psiachou H, Alghband-Zadeh J, Mitton S, Wertheimer E, Sinclair L, Taylor S. Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism. Hum Mutat. 1995;6:17-22.
35. Imano E, Kadowaki H, Kadowaki T, Iwama N, Watarai T, Kawamori R, Kamada T, Taylor SI. Two patients with insulin resistance due to decreased levels of insulin-receptor mRNA. Diabetes. 1991;40:548-557.
36. Iwanishi M, Haruta T, Takata Y, Ishibashi O, Egawa K, Imamura T, Naitou K, Itazu T, Kobayashi M. A mutation (Trp1193→Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance. J Clin Endocrinol Metab. 1991;73:894-901.
37. 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 α-subunit in a patient with leprechaunism: Binding, phosphorylation, and biological activity. J Clin Endocrinol Metab. 1994;79:1294-1302.
38. Kadowaki H, Kadowaki T, Cama A, Marcus-Samuels B, Rovira A, Bevins CL, Taylor SI. Mutagenesis of lysine 460 in the human insulin receptor. J Biol Chem. 1990;265:21285-21296.
39. Kadowaki H, Takahashi Y, Ando A, Momomura K, Kaburagi Y, Quin JD, Maccuish AC, Koda N, Fukushima Y, Taylor SI, Akanuma Y, Yasaki Y, Kadowaki T. Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. Biochem Biophys Res Com. 1997;237:516-520.
40. Kadowaki T, Bevins CI, 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.
41. Kadowaki T, Kadowaki H, Rechler MM, Serrano-Rios M, Roth J, Gorden P, Taylor SI. Five mutants alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest. 1990;86:254-264.
42. Kahn CR, Flier JS, Bar RS, Archer JA, Gorden P, Malcolm MM, Roth J. The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. N Engl J Med. 1976;294:739-745.
43. Kahn R, Podskalny JM. Demonstration of a primary (genetic) defect in insulin receptors in fibroblast from a patient with the syndrome of insulin resistance and acanthosis nigricans type A. J Clin Endocrinol Metab. 1980;50:1139-1141.
44. Kakehi T, Hisatomi A, Kuzuya H, Yoshimasa Y, Okamoto M, Yamada K, Nishimura A, Nawata H, Umeda F, Ibayashi H, Imura H. Defective processing of insulin-receptor precursor in cultured lymphocytes from a patient with extreme insulin resistance. J Clin Invest. 1988;81:2020-2022.
45. Kallo A, Lakatos I, Szijarto L. Leprechaunism (Donohue's syndrome). J Pediatr. 1965;66:372-379.
46. Kasuga M, Kadowaki T. Insulin receptor disorders in Japan. Diabetes Res Clin Pract. 1994;24S:145-151.
47. Kim H, Kadowaki H, Sakura H, Odawara M, Takahashi Y, Miyazaki Y, Ohtani T, Akanuma Y, Yazaki Y, Kasuga M, Taylor SI, Kadowaki T. Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms. Diabetologia. 1992;35:261-266.
48. Klinkhamer M, Groen NA, Van der Zon CM, Lindhout D, Sandkuyl LA, Krans J, Moller W, Maassen JA. A leucine to proline mutation receptor in a family with insulin resistance. EMBO J. 1989;8:2503-2507.
49. Kobayashi M, Olefsky JM, Elders J, Mako ME, Given BD, Schedwie HK, Fiser RH, Hintz RL, Horner JA, Rubinstein AH. Insulin resistance due to a defect distal to the insulin receptor: Demonstration in a patient with leprechaunism. Proc Natl Acad Sci USA. 1978;75:3469-3473.
50. Kobayashi M, Sasaoka T, Takata Y, Hisatomi A, Shigeta Y. Insulin resistance by uncleaved insulin pro-receptor: Emergence of binding site by trypsin. Diabetes. 1988;37:653-656.
51. Kosztolanyi G. Leprechaunism/Donohue syndrome/insulin receptor gene mutations: A syndrome delineation story from clinicopathological description to molecular understanding. Eur J Pediatr. 1997;156:253-255.
52. Krook A, Brueton L, O'Rahilly S. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet. 1993;342:277-278.
53. Krook A, Kumar S, Laing I, Boulton AJM, Wass JAH, O'Rahilly S. Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. Diabetes. 1994;43:357-368.
54. Longo N, Griffin LD, Shuster RC, Langley S, Elsas LJ. Increased glucose transport by human fibroblast with a heritable defect in insulin binding. Metabolism. 1989;38:690-697.
55. Longo N, Langley SD, Griffin LD, Elsas LJ. Two mutations in the insulin receptor gene of a patient with leprechaunism: Application to prenatal diagnosis. J Clin Endocrinol Metab. 1995;80:1496-1501.
56. Longo N, Singh R, Griffin LD, Langley SD, Parks JS, Elsas LJ. Impaired growth in Rabson Mendenhall syndrome: Lack of effect of growth hormone and insulin-like growth factor I. J Clin Endocrinol Metab. 1994;79:799-805.
57. Longo N, Wang Y, Pasquali M. Progressive decline in insulin levels in Rabson Mendenhall syndrome. J Clin Endocrinol Metab. 1999;84:2623-2629.
58. Longo N, Wang Y, Smith SA, Langley SD, Dimeglio LA, Giannella-Neto D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet. 2002;11:1465-1475.
59. Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Hanes E, Kleijer WJ, Fery F, Van der Zon G. Identification and functional assessment of novel and known insulin receptor mutation in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. 2003;88:4251-4257.
60. Maassen JA, Van der Vorm ER, Van der Zon GCM, Klinkhamer MP, Krans HMJ, Moller W. A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the pro-receptor and transport to the cell surface. Biochemistry. 1991;30:10778-10783.
61. a. McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore: Johns Hopkins University Press; 1998. The online version is accessible from the National Center for Biotechnology Information, National Library of Medicine, http://www.ncbi.nlm.nih.gov/omim/.
62. Moller DE, Yokota A, White MF, Pazianos AG, Flier JS. A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase junction and is associated with dominantly inherited insulin resistance. J Biol Chem. 1990;265:14979-14985.
63. Moncada Y, Hedo JA, Serrano-Rios M, Taylor S. Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Diabetes. 1986;35:802-807.
64. Muller-Wieland D, Taub R, Tewari DS, Kriauciunas KM, Sethu S, Reddy K, Kahn R. Insulin-receptor gene and its expression in patients with insulin resistance. Diabetes. 1989;38:31-38.
65. Muller-Wieland D, Van der Vorm ER, Streicher R, Krone W, Seemanova E, Dreyer M, Rudiger 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.
66. Nakae J, Kato M, Murashita M, Shinohara N, Tajima T, Fujieda K. Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism. J Clin Endocrinol Metab. 1998;83:542-549.
67. Olswang Y, Cohen H, Papo O, Cassuto H, Croniger CM, Hakimi P, Tilghman SM, Hanson MW, Reshef L. A mutation in the peroxisome proliferators-activated receptor γ-binding site in the gene for the cytosolic form of phosphoenolpyruvate carboxykinase reduces adipose tissue size and fat content in mice. Proc Natl Acad Sci USA. 2002;99:625-630.
68. Oral Arioglu E, Simha V, Ruiz E, Andewelt A, Premkumar A, Snell P, Wagner A, DePaoli AM, Reitman ML, Taylor SI, Gorden P, Garg A. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002;346:570-578.
69. Patterson JH, Watkins L. Leprechaunism in a male infant. J Pediatr. 1962;60:730-739.
70. Podskalny J, Kahn R. Cell culture studies on patients with extreme insulin resistance. Receptor defects on cultured fibroblasts. J Clin Endocrinol Metab. 1982;54:261-268.
71. Quin JD, Miles Fisher B, Paterson KR, Inouh A, Beastall GH, MacCuish AC. Acute response to recombinant insulin-like growth factor I in a patient with Mendenhall's syndrome. N Engl J Med. 1990;323:1425-1426.
72. Rabson SM, Mendenhall EN. Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus. Am J Clin Pathol. 1956;26:283-290.
73. Richards GE, Cavallo A, Meyer WJ, Prince MJ, Peters EJ, Stuart CA, Smith ER. Obesity, acanthosis nigricans, insulin resistance, and hyperandrogenemia: Pediatric perspective and natural history. J Pediatr. 1985;107:893-897.
74. Rique S, Nogues C, Ibanez L, Marcos MV, Ferragut J, Carrascosa A, Potau N. Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. Clin Genet. 2000;57:67-69.
75. Roach P. Annual meeting of AAP. Clin Res. 1992;40:311a.
76. Roach P, Zick Y, Formisano P, Accili D, Taylor SI, Gorden P. A novel insulin receptor gene mutation uniquely inhibits insulin binding without impairing posttranslational processing. Diabetes. 1994;43:1096-1102.
77. 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 hyperinsulinemic obese patients with polycystic ovary syndrome. Hum Reprod. 2003;18:1210-1218.
78. Rosenberg AM, Haworth JC, Degroot GW, Trevenen CL, Rechler MM. A case of leprechaunism with severe hyperinsulinemia. Am J Dis Child. 1980;134:170-175.
79. Roth SI, Schedewie HK, Herzberg VK, Olefsky J, Elders JM, Rubenstein A. Cutaneous manifestations of leprechaunism. Arch Dermatol. 1981;117:531-535.
80. Sasaoka T, Shigeta Y, Takata Y, Ishibashi O, Sugibayashi M, Hisatomi A, Kobayashi M. Unprocessed insulin proceptor in cultured fibroblasts from a patient with extreme insulin resistance. Metabolism. 1989;38:990-996.
81. Savage D, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby AM, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Krishna V, Chatterjee K, O' Rahilly S. Human mutation syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferators-activated receptor-γ. Diabetes. 2003;52:910-917.
82. Sethu-Kumar Reddy S, Muller-Wieland D, Kriauciunas K, Kahn CR. Molecular defects in the insulin receptor in patients with leprechaunism and in their parents. J Lab Clin Med. 1989;114:165-170.
83. Shimada F, Taira M, Suzuki Y, Hashimoto O, Nozaki O, Taira M, Tatibana M, Ebina Y, Tawata M, Toshimasa O, Makino H, Yoshida S. Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene. Lancet. 1990;335:1179-1181.
84. Stuart CA, Pate CJ, Peters EJ. Prevalence of acanthosis nigricans in an unselected population. Am J Med. 1989;87:269-272.
85. Summitt RL, Favara BE. Leprechaunism (Donohue's syndrome): A case report. J Pediatr. 1969;74:601-610.
86. Taira M, Taira M, Hashimoto N, Shimada F, Suzuki Y, Kanatsuka A, Nakamura F, Ebina Y, Tatibana M, Makino H, Yoshida S. Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. Science. 1989;245:63-66.
87. Takahashi Y, Kadowaki H, Momomura K, Fukushima Y, Orban T, Okai T, Taketani Y, Akanuma Y, Yazaki Y, Kadowaki T. A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism. Diabetologia. 1997;40:412-420.
88. Taylor SI, Cama A, Accili D, Barbetti F, Quon MJ, Sierra ML, Suzuki Y, Koller E, Levy-Toledano R, Wertheimer E, Moncada VY, Kadowaki H, Kadowaki T. Mutations in the insulin receptor gene. Endocr Rev. 1992;13:566-595.
89. Taylor SI, Kadowaki T, Kadowaki H, Accili D, Cama A, McKeon C. Mutations in insulin-receptor gene in insulin-resistant patients. Diabetes Care. 1990;13:257-279.
90. Taylor SI, Hedo J, Underhill LH, Kasuga M, Elders MJ, Roth J. Extreme insulin resistance in association with abnormally high binding affinity of insulin receptors from a patient with leprechaunism: Evidence for a defect intrinsic to the receptor. J Clin Endocrinol Metab. 1982;55:1108-1113.
91. Taylor SI, Samuels B, Roth J, Kasuga M, Hedo J, Gorden P, Brasel DE, Pokora T, Engel RR. Decreased insulin binding in cultured lymphocytes from two patients with extreme insulin resistance. J Clin Endocrinol Metab. 1982;54:919-930.
92. Taylor SI. Lilly lecture: Molecular mechanism of insulin resistance. Diabetes. 1992;41:1473-1490.
93. Taylor SI. Insulin action and inaction. Clin Res. 1987;35:459-472.
94. Taylor SI. Receptor defects in patients with extreme insulin resistance. Diabetes Metab Rev. 1985;1:171-202.
95. Usala AL, Madigan T, Burguera B, Sinha MK, Caro JF, Cunningham P, Powell JG, Butler PC. Treatment of insulin resistant diabetic ketoacidosis with insulin-like growth factor I in an adolescent with insulin dependent diabetes. N Engl J Med. 1992;327:853-857.
96. Van der Vorm ER, Moller W, Krans HMJ, Lindhout D, Maassen A. An arg for gly substitution at position 31 in the insulin receptor, linked to insulin resistance processing and transport. J Biol Chem. 1992;267:66-71.
97. West R, Leonard J. Familial insulin resistance with pineal hyperplasia: Metabolic studies and effect of hypophysectomy. Arch Dis Child. 1980;55:619-621.
98. Yoshimasa Y, Seino S, Whittaker J, Kakehi T, Kosaki A, Kuzuya H, Imamura H, Bell GI, Steiner DF, Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. Science. 1988;240:784-787.