Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor β gene (P453T)

Wu, Sharon Y.; Sadow, Peter M.; Refetoff, Samuel; Weiss, Roy E.

doi:10.1016/j.lab.2005.04.005

Cited by 16 publications

(7 citation statements)

References 18 publications

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“…Our patient had a higher TSH than those in a report of 8 unrelated families with RTH and the P453T mutation (10). Her TSH returned to the normal range, similar to these other RTH patients, after the surgery.…”

Section: Discussionsupporting

confidence: 68%

A Patient With a Thyrotropin-Secreting Microadenoma and Resistance to Thyroid Hormone (P453T)

Teng

Jin

Brent

et al. 2015

The Journal of Clinical Endocrinology &Amp; Metabolism

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Section: Discussionsupporting

confidence: 68%

A Patient With a Thyrotropin-Secreting Microadenoma and Resistance to Thyroid Hormone (P453T)

Teng

Jin

Brent

et al. 2015

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…However, due in part to the cellular complexity of bone marrow (31), the stage(s) of erythropoiesis and the molecular mechanism(s) by which TH stimulates red cell production has remained obscure. In addition, GWASs identified human genetic variants in the TRβ locus that are associated with abnormal hematocrits (18) and mutations in the THRB gene are common in RTH patients with anemia (32).…”

Section: Discussionmentioning

confidence: 99%

Thyroid hormone receptor beta and NCOA4 regulate terminal erythrocyte differentiation

Gao

Lee

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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An effect of thyroid hormone (TH) on erythropoiesis has been known for more than a century but the molecular mechanism(s) by which TH affects red cell formation is still elusive. Here we demonstrate an essential role of TH during terminal human erythroid cell differentiation; specific depletion of TH from the culture medium completely blocked terminal erythroid differentiation and enucleation. Treatment with TRβ agonists stimulated premature erythroblast differentiation in vivo and alleviated anemic symptoms in a chronic anemia mouse model by regulating erythroid gene expression. To identify factors that cooperate with TRβ during human erythroid terminal differentiation, we conducted RNA-seq in human reticulocytes and identified nuclear receptor coactivator 4 (NCOA4) as a critical regulator of terminal differentiation. Furthermore, mice are anemic in perinatal periods and fail to respond to TH by enhanced erythropoiesis. Genome-wide analysis suggests that TH promotes NCOA4 recruitment to chromatin regions that are in proximity to Pol II and are highly associated with transcripts abundant during terminal differentiation. Collectively, our results reveal the molecular mechanism by which TH functions during red blood cell formation, results that are potentially useful to treat certain anemias.

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“…She presented with goitre, in addition to tachycardia and phobias. This mutation has been described in eight unrelated families with RTH 3,10,16–19 . Detailed clinical data were not available for several of these kindreds; however, most of the affected patients had goitre.…”

Section: Discussionmentioning

confidence: 99%

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone

Magalhães

Dare

Santos

et al. 2007

Clinical Endocrinology

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Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor β gene (P453T)

Cited by 16 publications

References 18 publications

A Patient With a Thyrotropin-Secreting Microadenoma and Resistance to Thyroid Hormone (P453T)

A Patient With a Thyrotropin-Secreting Microadenoma and Resistance to Thyroid Hormone (P453T)

Thyroid hormone receptor beta and NCOA4 regulate terminal erythrocyte differentiation

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone

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