{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:09:34Z","timestamp":1791047374456,"version":"4.1.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[1993,5,1]],"date-time":"1993-05-01T00:00:00Z","timestamp":736214400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diabetologia"],"published-print":{"date-parts":[[1993,5]]},"DOI":"10.1007\/bf00402277","type":"journal-article","created":{"date-parts":[[2004,11,9]],"date-time":"2004-11-09T07:17:54Z","timestamp":1099984674000},"page":"414-422","source":"Crossref","is-referenced-by-count":39,"title":["A mutation (Trp1193?Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance"],"prefix":"10.1007","volume":"36","author":[{"given":"M.","family":"Iwanishi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Haruta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Takata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Ishibashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Sasaoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Egawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Imamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Naitou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Itazu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.2337\/diacare.13.3.257","volume":"13","author":"SI Taylor","year":"1990","unstructured":"Taylor SI, Kadowaki T, Kadowaki H, Accili D, Cama A, McKeon C (1990) Mutations in insulin receptor gene in insulin resistant patients. Diabetes Care 13: 257?279","journal-title":"Diabetes Care"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0006-291X(88)81145-8","volume":"153","author":"M Kobayashi","year":"1988","unstructured":"Kobayashi M, Sasaoka T, Takata Y et al. (1988) Insulin resistance by unprocessed insulin proreceptors: point mutation at the cleavage site. Biochem Biophys Res Commun 153: 657?663","journal-title":"Biochem Biophys Res Commun"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/0006-291X(90)90632-W","volume":"167","author":"M Kobayashi","year":"1990","unstructured":"Kobayashi M, Sugibayashi M, Sasaoka T et al. (1990) Transfection of cDNA with G?T point mutation at the cleavage site of insulin receptors to cos 7 cells. Biochem Biophys Res Commun 167: 1073?1078","journal-title":"Biochem Biophys Res Commun"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/0026-0495(86)90060-0","volume":"35","author":"Y Takata","year":"1986","unstructured":"Takata Y, Kobayashi M, Maegawa H et al. (1986) A primary defect in insulin receptor in a young male patient with insulin resistance. Metabolism 35: 950?955","journal-title":"Metabolism"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1007\/BF00277261","volume":"32","author":"T Sasaoka","year":"1989","unstructured":"Sasaoka T, Shigeta Y, Takata Y et al. (1989) Binding specificity and intramolecular signal transmission of uncleaved insulin proreceptor in transformed lymphocytes from a patient with extreme insulin resistance. Diabetologia 32: 371?377","journal-title":"Diabetologia"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.2337\/diab.37.11.1515","volume":"37","author":"T Sasaoka","year":"1988","unstructured":"Sasaoka T, Kobayashi M, Takata Y et al. (1988) Clarification of signaling pathways mediated by insulin and insulin-like growth factor I receptors in fibroblasts from patients with specific defect in insulin receptor. Diabetes 37: 1515?1523","journal-title":"Diabetes"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"3375","DOI":"10.1016\/S0021-9258(18)50770-5","volume":"254","author":"PF Pilch","year":"1989","unstructured":"Pilch PF, Czech MP (1989) Interaction of cross-linking agents with the insulin effector system of isolated fat cells. J Biol Chem 254: 3375?3381","journal-title":"J Biol Chem"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.1073\/pnas.78.4.2554","volume":"78","author":"AB Knight","year":"1981","unstructured":"Knight AB, Rechler MM, Romanus JA, Van Obberghen-Schilling EE, Nissley SP (1981) Stimulation of glucose incorporation and amino acid transport by insulin and an insulin-like growth factor in fibroblasts with defective insulin receptors cultured from a patient with leprechaunism. Proc Natl Acad Sci USA 78: 2554?2558","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1073\/pnas.83.3.664","volume":"83","author":"JS Flier","year":"1986","unstructured":"Flier JS, Usher P, Moses AC (1986) Monoclonal antibody to the type I insulin-like growth factor (IGF-I) receptor blocks IGF-I receptor-mediated DNA synthesis clarification of the mitogenic mechanisms of IGF-I and insulin in human skin fibroblasts. Proc Natl Acad Sci USA 83: 664?668","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR10","first-page":"156","volume":"162","author":"P Chomczynsky","year":"1987","unstructured":"Chomczynsky P, Sacci N (1987) Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156?159","journal-title":"Anal Biochem"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"5201","DOI":"10.1073\/pnas.77.9.5201","volume":"77","author":"PS Thomas","year":"1980","unstructured":"Thomas PS (1980) Hybridization of denatured RNA and DNA fragments transfered to nitrocellulose. Proc Natl Acad Sci USA 77: 5201?5205","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR12","first-page":"914","volume-title":"Molecular cloning. A laboratory manual","author":"J Sambrook","year":"1989","unstructured":"Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning. A laboratory manual, 2nd ed, Vol.2. Cold Spring Harbor Laboratory, Cold Spring Harbor, pp 914?923","edition":"2nd ed"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0378-1119(83)90230-5","volume":"25","author":"U Gubler","year":"1983","unstructured":"Gubler U, Hoffman BJ (1983) A simple and very efficient method for generating cDNA libraries. Gene 25: 263?269","journal-title":"Gene"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"123","DOI":"10.2337\/diacare.39.1.123","volume":"39","author":"S Seino","year":"1990","unstructured":"Seino S, Seino M, Bell GI (1990) Human insulin-receptor gene partial sequence and amplification of exons by polymerase chain reaction. Diabetes 39: 123?128","journal-title":"Diabetes"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/0092-8674(85)90334-4","volume":"40","author":"Y Ebina","year":"1985","unstructured":"Ebina Y, Ellis L, Jarnagin K et al. (1985) The human insulin receptor cDNA: the structure basis for hormone-activated trans-membrane signalling. Cell 40: 747?758","journal-title":"Cell"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1002\/j.1460-2075.1989.tb08388.x","volume":"8","author":"D Accili","year":"1989","unstructured":"Accili D, Frapier C, Mosthaf L et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin resistant diabetes. EMBO J 8: 2509?2517","journal-title":"EMBO J"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1172\/JCI114693","volume":"86","author":"T Kadowaki","year":"1990","unstructured":"Kadowaki T, Kadowaki H, Rechler MM et al. (1990) Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest 86: 254?264","journal-title":"J Clin Invest"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"21224","DOI":"10.1016\/S0021-9258(18)54844-4","volume":"266","author":"T Kadowaki","year":"1991","unstructured":"Kadowaki T, Kadowaki H, Accili D et al. (1991) Substitution of arginine for histidine at position 209 in the ?-subunit of the human insulin receptor. J Biol Chem 266: 21224?21231","journal-title":"J Biol Chem"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"10778","DOI":"10.1021\/bi00108a024","volume":"30","author":"JA Maassen","year":"1991","unstructured":"Maassen JA, Vorm ER, Zon GC et al. (1991) A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface. Biochemistry 30: 10778?10783","journal-title":"Biochemistry"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"21285","DOI":"10.1016\/S0021-9258(17)45358-0","volume":"265","author":"H Kadowaki","year":"1990","unstructured":"Kadowaki H, Kadowaki T, Cama A et al. (1990) Mutagenesis of lysine 460 in the human insulin receptor. J Biol Chem 265: 21285?21296","journal-title":"J Biol Chem"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"5260","DOI":"10.1016\/S0021-9258(19)67781-1","volume":"266","author":"J Kusari","year":"1991","unstructured":"Kusari J, Takata Y, Hatada E et al. (1991) Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. J Biol Chem 266: 5260?5267","journal-title":"J Biol Chem"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"14777","DOI":"10.1016\/S0021-9258(18)77180-9","volume":"265","author":"R Yamamoto","year":"1990","unstructured":"Yamamoto R, Koshio O, Tobe K et al. (1990) Phosphorylation state and biological function of a mutant human insulin receptor Val996. J Biol Chem 265: 14777?14783","journal-title":"J Biol Chem"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"14979","DOI":"10.1016\/S0021-9258(18)77212-8","volume":"265","author":"DE Moller","year":"1990","unstructured":"Moller DE, Yokota A, White MF et al. (1990) A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. J Biol Chem 265: 14979?14985","journal-title":"J Biol Chem"},{"key":"CR24","doi-asserted-by":"crossref","first-page":"8383","DOI":"10.1016\/S0021-9258(18)42456-8","volume":"267","author":"A Cama","year":"1992","unstructured":"Cama A, Quon MJ, de la Luz Sierra M, Taylor SI (1992) Substitution of isoleucine for methionine at position 1153 in the ?-subunit of the human insulin receptor. J Biol Chem 267: 8383?8389","journal-title":"J Biol Chem"},{"key":"CR25","doi-asserted-by":"crossref","first-page":"10995","DOI":"10.1016\/S0021-9258(18)99118-0","volume":"266","author":"DE Moller","year":"1991","unstructured":"Moller DE, Benecke H, Flier JS (1991) Biologic activities of naturally occurring human insulin receptor mutations. J Biol Chem 266: 10995?11001","journal-title":"J Biol Chem"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/0076-6879(91)00126-H","volume":"200","author":"SK Hanks","year":"1991","unstructured":"Hanks SK, Quinn AM (1991) Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members. Meth Enzymol 200: 38?62","journal-title":"Meth Enzymol"},{"key":"CR27","doi-asserted-by":"crossref","first-page":"5693","DOI":"10.1021\/bi00415a045","volume":"27","author":"T O'Hare","year":"1988","unstructured":"O'Hare T, Pilch PF (1988) Separation and characterization of three insulin receptor species that differ in subunit composition. Biochemistry 27: 5693?5700","journal-title":"Biochemistry"},{"key":"CR28","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1210\/mend-4-8-1183","volume":"4","author":"DE Moller","year":"1990","unstructured":"Moller DE, Yokota A, Ginsberg-Fellner F, Flier JS (1990) Functional properties of a naturally occurring Trp1200?Ser1200 mutation of the insulin receptor. Mol Endocrinol 4: 1183?1191","journal-title":"Mol Endocrinol"}],"container-title":["Diabetologia"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00402277.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00402277\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00402277","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T00:27:20Z","timestamp":1624840040000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00402277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5]]},"references-count":28,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,5]]}},"alternative-id":["BF00402277"],"URL":"https:\/\/doi.org\/10.1007\/bf00402277","relation":{},"ISSN":["0012-186X","1432-0428"],"issn-type":[{"value":"0012-186X","type":"print"},{"value":"1432-0428","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5]]}}}