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Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor

Autor: Takashi Nagaya, Yoshitaka Hayashi, Kevin J. Petty, Samuel Refetoff, Hisao Seo, Yoshiharu Murata, Roy E. Weiss, Hakan Tunca

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 81:4196-4203

Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone. To date, all individuals expressing the RTH phenotype have been found to harbor mutations in the thyroid hormone receptor beta (TR beta)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd80fdbb517107e41e6dbe4c72615b3
https://doi.org/10.1210/jcem.81.12.8954015

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A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study

Autor: Samuel Refetoff, Hakan Tunca, Roy E. Weiss, Maria M. Byrne, Ventzislav S. Z. Marinov, Thongkum Sunthornthepvarakul

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 81:3335-3340

Serum transthyretin (TTR) is a protein of liver origin that under normal conditions transports approximately 20% T4. Missense mutations of the TTR gene produce familial amyloidotic polyneuropathy and rarely, euthyroid hyperthyroxinemia (EHT). Of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9f360ccb1d3a1a62d2e6b6c5f24be40
https://doi.org/10.1210/jcem.81.9.8784093

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Mutation in the Thyroid Hormone Receptor (TR) β Gene (M313T) Not Previously Reported in Two Unrelated Families with Resistance to Thyroid Hormone (RTH)

Autor: Roy E. Weiss, Douglas L. Wilansky, Victoria C. Mussey, Hakan Tunca, Samuel Refetoff

Publikováno v: Thyroid. 6:571-573

Two families expressing the RTH phenotype and harboring the same mutation in the TRbeta gene are described. Five and four affected members in each family were investigated as well as a total of 12 unaffected relatives. The mutation, a T to C transiti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ff37aef10b8aff4ccaf3730ee06a30
https://doi.org/10.1089/thy.1996.6.571

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Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C)

Autor: Fred H. Faas, Samuel Refetoff, Hakan Tunca, Whitfield L. Knapple, Roy E. Weiss

Publikováno v: Thyroid : official journal of the American Thyroid Association. 7(1)

A new family with resistance to thyroid hormone (RTH) harboring a mutation in the thyroid hormone receptor (TR) beta gene (R320C) is reported. The phenotype of affected members is compared to that of affected members of an unrelated family with an id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51f36745498caa6a0b179f7cdb676a5f
https://pubmed.ncbi.nlm.nih.gov/9086567

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A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH)

Autor: Hertzel C. Gerstein, Hakan Tunca, Roy E. Weiss, Samuel Refetoff

Publikováno v: Thyroid : official journal of the American Thyroid Association. 6(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09c6aa8e2a3db8f1f4fa7264332e16f8
https://pubmed.ncbi.nlm.nih.gov/8875752

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