{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T17:47:54Z","timestamp":1759600074785},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[1992,9,1]],"date-time":"1992-09-01T00:00:00Z","timestamp":715305600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Endocrinol Invest"],"published-print":{"date-parts":[[1992,9]]},"DOI":"10.1007\/bf03344927","type":"journal-article","created":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T10:05:17Z","timestamp":1395137117000},"page":"573-579","source":"Crossref","is-referenced-by-count":19,"title":["Generalized thyroid hormone resistance: Identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor"],"prefix":"10.1007","volume":"15","author":[{"given":"Kenneth D.","family":"Burman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. Y.","family":"Djuh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Nicholson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Rhooms","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Wartofsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. G.","family":"Fein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. J.","family":"Usala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. -H.","family":"Hao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. E. C.","family":"Bradley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Berard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. C.","family":"Smallridge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,3,18]]},"reference":[{"key":"BF03344927_CR1","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1210\/jcem-27-2-279","volume":"27","author":"S Refetoff","year":"1967","unstructured":"Refetoff S., Dewind LT., DeGroot L.J. Familial syndrome combining deaf mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J. Clin. Endocrinol. Metab. 27: 279, 1967.","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BF03344927_CR2","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/0002-9343(89)90298-2","volume":"86","author":"RC Smallridge","year":"1989","unstructured":"Smallridge R.C., Parker RA, Wiggs E.A., Rajagopal K.R., Fein H.G. Thyroid hormone resistance in a large kindred: physiologic, biochemical, pharmacologic, and neuropsychologic studies. Am. J. Med. 86: 289, 1989.","journal-title":"Am. J. Med."},{"key":"BF03344927_CR3","first-page":"E88","volume":"243","author":"S Refetoff","year":"1982","unstructured":"Refetoff S. Syndromes of thyroid hormone resistance. Am. J. Physiol. 243: E88, 1982.","journal-title":"Am. J. Physiol."},{"key":"BF03344927_CR4","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1210\/jcem-55-3-502","volume":"55","author":"C Eil","year":"1982","unstructured":"Eil C., Fein H.G., Smith T.J., Furlanetto R.W., Bourgeois M., Stelling M.W., Weintraub B.D. Nuclear binding of 125-I triiodothyronine in dispersed cultured skin fibroblasts from patients with resistance to thyroid hormone. J. Clin. Endocrinol. Metab. 55: 502, 1982.","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BF03344927_CR5","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1210\/jcem-59-6-1081","volume":"59","author":"MM Menezes-Ferreira","year":"1984","unstructured":"Menezes-Ferreira M.M., Eil C., Wortsman J., Weintraub B.D. Decreased nuclear uptake of I-125 triiodothyronine in fibroblasts from patients with resistance to thyroid hormone. J. Clin. Endocrinol. Metab. 59: 1081, 1984.","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BF03344927_CR6","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/0026-0495(87)90214-9","volume":"36","author":"K Ichikawa","year":"1987","unstructured":"Ichikawa K., Hughes I.A., Horwitz A.L., DeGroot L.J. Characterization of nuclear thyroid receptors of cultured skin fibroblasts from patients with resistance to thyroid hormone. Metabolism 36: 392, 1987.","journal-title":"Metabolism"},{"key":"BF03344927_CR7","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1038\/324641a0","volume":"324","author":"C Weinberger","year":"1986","unstructured":"Weinberger C., Thompson C.C., Ong E.S., Lebo R., Gruol D.J., Evans R.M. The c-erb-A gene encodes a thyroid hormone receptor. Nature 324: 2641, 1986.","journal-title":"Nature"},{"key":"BF03344927_CR8","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/324635a0","volume":"324","author":"J Sap","year":"1986","unstructured":"Sap J., Munoz A., Damm H., Goldberg Y., Ghysdael J., Lentz A., Beug H., Vennstrom B. The c-erb A protein is a high affinity receptor for thyroid hormone. Nature 324: 635, 1986.","journal-title":"Nature"},{"key":"BF03344927_CR9","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1126\/science.3283939","volume":"240","author":"RM Evans","year":"1988","unstructured":"Evans R.M. The steroid and thyroid hormone receptor super-family. Science 240: 889, 1988.","journal-title":"Science"},{"key":"BF03344927_CR10","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1007\/BF03350080","volume":"72","author":"LJ DeGroot","year":"1989","unstructured":"DeGroot L.J., Nakai A., Sakurai A., Macchia E. The molecular basis of thyroid hormone action. J. Endocrinol. Invest. 72: 843, 1989.","journal-title":"J. Endocrinol. Invest."},{"key":"BF03344927_CR11","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1210\/jcem-72-1-32","volume":"72","author":"SJ Usala","year":"1991","unstructured":"Usala S.J., Menke J.B., Watson T.L., Berard J., Bradley W.E.C., Bale A.E., Lash R.W., Weintraub B.D. A new point mutation in the 3, 5, 3\u2032-Triiodothyronine-binding domain of the c-erb A beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance. J. Clin. Endocrinol. Metab. 72: 32, 1991.","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BF03344927_CR12","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/BF03346792","volume":"14","author":"HG Fein","year":"1991","unstructured":"Fein H.G., Burman K.D., Djuh Y.-Y., Usala S.J., Bale A.E., Weintraub B.D., Smallridge R.C. Tight linkage of the human c-erb A Beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. J. Endocrinol. Invest. 14: 219, 1991.","journal-title":"J. Endocrinol. Invest."},{"key":"BF03344927_CR13","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1172\/JCI114438","volume":"85","author":"SJ Usala","year":"1990","unstructured":"Usala S.J., Tennyson G.E., Bale A.E., Lash R.W., Gesundheit N.. Wondisford E.E., Accili D., Hauser P., Weintraub B.D. A base mutation of the C-erb A Beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance: molecular heterogeneity in two other kindreds. J. Clin. Invest. 85: 93, 1990.","journal-title":"J. Clin. Invest."},{"key":"BF03344927_CR14","doi-asserted-by":"crossref","first-page":"8977","DOI":"10.1073\/pnas.86.22.8977","volume":"86","author":"A Sakurai","year":"1989","unstructured":"Sakurai A., Takeda H., Ain K., Ceccarelli P., Nakai A., Seino S., Bell G.I., Refetoff S., DeGroot L.J. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor Beta. Proc. Natl. Acad. Sci. USA 86: 8977, 1989.","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BF03344927_CR15","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1172\/JCI115023","volume":"87","author":"K Takeda","year":"1991","unstructured":"Takeda K., Balzano S., Sakurai A., DeGroot L.J., Refetoff S. Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. J.Clin. Invest. 87: 496, 1991.","journal-title":"J.Clin. Invest."},{"key":"BF03344927_CR16","first-page":"575","volume":"171","author":"SJ Usala","year":"1990","unstructured":"Usala S.J., Wondisford F.E., Watson T.L, Menke J.B., Weintraub B.D. Thyroid hormone and DNA binding properties of a mutant c-erb A beta receptor associated with generalized thyroid hormone resistance. BBRC 171: 575, 1990.","journal-title":"BBRC"},{"key":"BF03344927_CR17","first-page":"32","volume":"11","author":"SE Bromley","year":"1989","unstructured":"Bromley S.E., Klupt S.F. Genomic DNA isolation system. Focus 11: 32, 1989.","journal-title":"Focus"},{"key":"BF03344927_CR18","first-page":"A175","volume":"45","author":"J Berard","year":"1989","unstructured":"Berard J., Gareau P., Bradley W.E.C. The structure of the c-erb A beta gene [Abstract]. Am. J. Hum. Genet. 45: A175, 1989.","journal-title":"Am. J. Hum. Genet."},{"key":"BF03344927_CR19","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1210\/mend-5-3-327","volume":"5","author":"SJ Usala","year":"1991","unstructured":"Usala S.J., Menke J.B., Watson T.L, Wondisford F.E., Weintraub B.D., Berard J., Bradley W.E.C, Ono S., Mueller O.T., Bercu B.B. A homozygous deletion in the c-erb A beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: Isolation and characterization of the mutant receptor. Mol. Endocrinol. 5: 327, 1991.","journal-title":"Mol. Endocrinol."},{"key":"BF03344927_CR20","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-1-349-20235-5_4","volume-title":"PCR Technology","author":"R Higuchi","year":"1989","unstructured":"Higuchi R. Simple and rapid preparations of samples for PCR. In: Erlich H.A. (Ed.), PCR Technology. Stockton, New York, NY, 1989, p.31."},{"key":"BF03344927_CR21","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/0003-2697(83)90280-4","volume":"134","author":"A Inoue","year":"1983","unstructured":"Inoue A., Yamakawa J., Yakioka M., Morisawa S. Filter-binding assay procedure for thyroid hormone receptors. Anal. Biochem. 134: 176, 1983.","journal-title":"Anal. Biochem."},{"key":"BF03344927_CR22","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1210\/mend-4-2-227","volume":"4","author":"PA Schueler","year":"1990","unstructured":"Schueler P.A., Schwartz J.L., Strait K.A., Mariash C.N., Oppenheimer J.H. Binding of 3, 5, 3\u2032-triiodothyronine (T3) and its analogues to the in vitro translational products of c-erb A protooncogenes: Differences in the affinity of the alpha- and beta-forms for the acetic acid analog and failure of the human test is and kidney alpha-2 products to bind T3. Mol. Endocrinol. 4: 227, 1990.","journal-title":"Mol. Endocrinol."},{"key":"BF03344927_CR23","first-page":"293A","volume":"39","author":"SJ Usala","year":"1991","unstructured":"Usala S.J., Menke J.B., Cugini C.D. Jr., Leidy J.W. Jr., Zangeneh F., Chertow B.S., Driscoll H.K. A Mutation in codon 315 of c-erb A beta in a kindred with generalized thyroid hormone resistance and dyslexia. Clin. Res. 39: 293A, 1991.","journal-title":"Clin. Res."},{"key":"BF03344927_CR24","first-page":"1164","volume":"74","author":"CD Cugini","year":"1992","unstructured":"Cugini C.D., Leidy J.W., Chertow B.S., Berard J., Bradley W.E.C, Menke J.B., Hao E.-H., Usala S.J. An arginine to histidine mutation in codon 315 of the c-erb A Beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3, 5, 3\u2032-triiodothyronine binding activity. J. Clin. Endocrinol. Metab. 74: 1164, 1992.","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BF03344927_CR25","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1172\/JCI115225","volume":"87","author":"V Krishna","year":"1991","unstructured":"Krishna V., Chatterjee K., Nagaya T., Madison L.D., Datta S., Rentoumis A., Jameson L.J. Thyroid hormone resistance syndrome: Inhibition of normal receptor function by mutant thyroid hormone receptors. J.Clin. Invest. 87: 1977, 1991.","journal-title":"J.Clin. Invest."},{"key":"BF03344927_CR26","first-page":"1990","volume":"4","author":"A Sakurai","year":"1988","unstructured":"Sakurai A., Miyamoto T., Refetoff S., Degroot L.J. Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol. Endocrinol. 4: 1988, 1990.","journal-title":"Mol. Endocrinol."}],"container-title":["Journal of Endocrinological Investigation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03344927.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF03344927\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03344927","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T10:25:22Z","timestamp":1558520722000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF03344927"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9]]},"references-count":26,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1992,9]]}},"alternative-id":["BF03344927"],"URL":"https:\/\/doi.org\/10.1007\/bf03344927","relation":{},"ISSN":["0391-4097","1720-8386"],"issn-type":[{"value":"0391-4097","type":"print"},{"value":"1720-8386","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9]]}}}