Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
作者信息
Refetoff Samuel, Bassett J H Duncan, Beck-Peccoz Paolo, Bernal Juan, Brent Gregory, Chatterjee Krishna, De Groot Leslie J, Dumitrescu Alexandra M, Jameson J Larry, Kopp Peter A, Murata Yoshiharu, Persani Luca, Samarut Jacques, Weiss Roy E, Williams Graham R, Yen Paul M
机构信息
Department of Medicine, The University of Chicago, Chicago, Ill., USA ; Department of Pediatrics, The University of Chicago, Chicago, Ill., USA ; Department of Genetics, The University of Chicago, Chicago, Ill., USA.
Department of Medicine, Imperial College London, London, UK.
出版信息
Eur Thyroid J. 2014 Mar;3(1):7-9. doi: 10.1159/000358180. Epub 2014 Mar 4.
Abstract
摘要
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Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.甲状腺激素作用、细胞转运及代谢遗传性缺陷的分类及拟用命名法。
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Clinical phenotype and mutant TRα1.临床表型与突变型TRα1
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A mutation in the thyroid hormone receptor alpha gene.甲状腺激素受体α基因突变。
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.硒代半胱氨酸插入序列结合蛋白2（SECISBP2）的突变会导致甲状腺激素代谢异常。
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Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.甲状腺激素转运体突变与严重的X连锁精神运动发育迟缓之间的关联。
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.一种合并甲状腺和神经异常的新型综合征与单羧酸转运蛋白基因突变有关。
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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.对甲状腺激素抵抗的显性遗传与甲状腺激素受体α或β基因缺陷无关，可能是由于辅助因子缺陷所致。
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The syndromes of resistance to thyroid hormone.甲状腺激素抵抗综合征
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Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom.甲状腺激素抵抗中甲状腺激素受体β基因突变的命名：1993年7月10 - 11日于英国剑桥举行的首届甲状腺激素抵抗研讨会的共识声明
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Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.伴有聋哑、骨骺发育不全、甲状腺肿及异常高的蛋白结合碘的家族性综合征：可能存在对甲状腺激素的靶器官不应性。
J Clin Endocrinol Metab. 1967 Feb;27(2):279-94. doi: 10.1210/jcem-27-2-279.
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The c-erb-A gene encodes a thyroid hormone receptor.c-erb-A基因编码一种甲状腺激素受体。
Nature. 1986;324(6098):641-6. doi: 10.1038/324641a0.
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