Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Generalized Thyroid Hormone Resistance"'
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1992 Nov . 89(22), 10633-10637.
Externí odkaz:
https://www.jstor.org/stable/2361964
Publikováno v:
Journal of the Endocrine Society
Background: Thyroid hormone exerts systemic actions mediated by its specific receptors. These actions encompass a wide array of functions, including energy homeostasis, skeletal growth, neural development, cardiac function, and gastrointestinal funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d66ab3dea1db34edebbd459c055eca
https://doi.org/10.1210/js.2019-sun-594
https://doi.org/10.1210/js.2019-sun-594
Autor:
Bruce D. Weintraub, Donald Seto
Publikováno v:
Human Mutation. 8:247-257
Generalized thyroid hormone resistance (GTHR) is a syndrome characterized by tissue nonresponsiveness to thyroid hormones and by variable clinical phenotype manifestations. This syndrome has also been implicated as a predisposing factor in some cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::295b23188d4ee3b53479ea787824c672
https://doi.org/10.1002/(sici)1098-1004(1996)8:3<247::aid-humu8>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1996)8:3<247::aid-humu8>3.3.co
Publikováno v:
Molecular Endocrinology. 9:563-578
Unlike the steroid hormone receptors that bind their response elements as homodimers, thyroid hormone receptor (TRs) as well as retinoic acid receptors and several other receptors have been shown to require heterodimerization with retinoid X receptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17cc4a5a24f6424d204669ce163a5f7b
https://doi.org/10.1210/mend.9.5.7565804
https://doi.org/10.1210/mend.9.5.7565804
Publikováno v:
Biochemistry. 33:4319-4326
To understand the nature of the thyroid hormone binding site, we characterized the binding of 3,3',5-triiodo-L-thyronine (T3) and its analogues to eight naturally occurring mutated human beta 1 thyroid hormone receptors (h-TR beta 1). The mutant rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846cb5a1afb06fcb15d3c0c13738f9f9
https://doi.org/10.1021/bi00180a028
https://doi.org/10.1021/bi00180a028
Publikováno v:
Proceedings of the National Academy of Sciences. 89:10633-10637
Mutations in the gene encoding the human thyroid hormone receptor beta (hTR beta) have been associated with generalized thyroid hormone resistance (GTHR). However, the molecular basis by which the receptor mutants cause the clinical symptoms is large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e1256122a221c7ac67de17a65482bd
https://doi.org/10.1073/pnas.89.22.10633
https://doi.org/10.1073/pnas.89.22.10633
Autor:
Ulrich Loos, Michael Behr
Publikováno v:
Molecular Endocrinology. 6:1119-1126
Various point mutations in the c-erbA thyroid hormone receptor (TR) beta gene of unrelated kindreds have been reported to be responsible for different phenotypes of generalized thyroid hormone resistance. We now report a new point mutation, Td, in on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ceac0b2b6bef27d317d6c7efb71e4e6
https://doi.org/10.1210/mend.6.7.1324420
https://doi.org/10.1210/mend.6.7.1324420
Autor:
P. De Nayer
Publikováno v:
Hormone Research. 38:57-61
Major progress has been achieved in the mechanism of action of thyroid hormones thanks to the identification of the T3 receptor as the product of the proto-oncogene c-erbA. Recognition of subsets of receptors with and without T3-binding properties an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01fc8194040c8d12e6d861182eb4d3f1
https://doi.org/10.1159/000182487
https://doi.org/10.1159/000182487
Autor:
Stephen J. Usala, Bruce D. Weintraub
Publikováno v:
Trends in Endocrinology & Metabolism. 2:140-144
The gene for generalized thyroid hormone resistance has been mapped to the c- erb Aβ thyroid hormone receptor on chromosome 3 in multiple kindreds. Different mutations have been identified in the triiodothyronine (T 3 )-binding domain of c- erb Aβ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::279bca087d03bb79b030499e66666f9d
https://doi.org/10.1016/1043-2760(91)90004-7
https://doi.org/10.1016/1043-2760(91)90004-7
Autor:
Jay B. Menke, Bruce D. Weintraub, Stephen J. Usala, Jacques Bérard, W. Edward C. Bradley, Robert W. Lash, Allen E. Bale, Tracey L. Watson
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 72:32-38
Two different mutations in the c-erbA beta thyroid hormone receptor have recently been reported as genetic abnormalities responsible for the syndrome of generalized thyroid hormone resistance (GTHR). We have now found in a third kindred, D, in which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ddfba6cb17f50a10383fdc7fd111012
https://doi.org/10.1210/jcem-72-1-32
https://doi.org/10.1210/jcem-72-1-32