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Resistance to Thyroid Hormone Beta: A Focused Review [PDF]

Frontiers in Endocrinology, 2021
Resistance to thyroid hormone (RTH) is a clinical syndrome defined by impaired sensitivity to thyroid hormone (TH) and its more common form is caused by mutations in the thyroid hormone receptor beta (THRB) gene, termed RTHβ.
Theodora Pappa, Samuel Refetoff
doaj   +4 more sources

Resistance to thyroid hormone induced tachycardia in RTHα syndrome [PDF]

Nature Communications, 2023
Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart.
Riccardo Dore, Laura Watson, Stefanie Hollidge, Christin Krause, Sarah Christine Sentis, Rebecca Oelkrug, Cathleen Geißler, Kornelia Johann, Mehdi Pedaran, Greta Lyons, Nuria Lopez-Alcantara, Julia Resch, Friedhelm Sayk, Karl Alexander Iwen, Andre Franke, Teide Jens Boysen, Jeffrey W. Dalley, Kristina Lorenz, Carla Moran, Kirsten L. Rennie, Anders Arner, Henriette Kirchner, Krishna Chatterjee, Jens Mittag   +23 more
doaj   +8 more sources

Graves’ disease coexisted with resistance to thyroid hormone: a case report [PDF]

Journal of Medical Case Reports, 2021
Background Resistance to thyroid hormone is a rare autosomal dominant disorder characterized by reduced responsiveness to thyroid hormone and can cause syndrome of inappropriate secretion of thyroid stimulating hormone.
Hiroshi Akahori, Rika Usuda
doaj   +2 more sources

Thyroid hormone receptors and resistance to thyroid hormone disorders [PDF]

Nature Reviews Endocrinology, 2014
Thyroid hormone action is predominantly mediated by thyroid hormone receptors (THRs), which are encoded by the thyroid hormone receptor α (THRA) and thyroid hormone receptor β (THRB) genes. Patients with mutations in THRB present with resistance to thyroid hormone β (RTHβ), which is a disorder characterized by elevated levels of thyroid hormone, normal
Tania M Ortiga-Carvalho, Ortiga-Carvalho Tania M, Wondisford Fredric E   +2 more
exaly   +3 more sources

Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review

Clinical Case Reports, 2021
The same thyroid hormone receptor B gene (THRB) mutation led to thyroid hormone resistance with different clinical manifestations in the kindreds.
Bingkun Huang, Changqin Liu, Fangsen Xiao, Peiying Huang, Jinyang Zeng, Zheng Chen, Mingzhu Lin, Xuejun Li   +7 more
doaj   +2 more sources

Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation [PDF]

European Thyroid Journal
Background: Patients with resistance to thyroid hormone β (RTHβ) show elevated thyroid hormone concentrations with non-suppressed thyroid-stimulating hormone (TSH) concentrations and large phenotypic variability.
Ferdy S van Geest, Wenjun Liao, Paul G Voorhoeve, Willemijn G Leen, Nitash Zwaveling-Soonawala, V Krishna Chatterjee, Sjoerd A A Van den Berg, Frederik A Verburg, Marcel E Meima, Erica L T van den Akker, W Edward Visser   +10 more
doaj   +2 more sources

Update on resistance to thyroid hormone syndromeβ [PDF]

Italian Journal of Pediatrics, 2020
Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene.
Hongping Sun, Lin Cao, Rendong Zheng, Shaofeng Xie, Chao Liu   +4 more
doaj   +2 more sources

Structure-Guided Approach to Relieving Transcriptional Repression in Resistance to Thyroid Hormone α [PDF]

Molecular and Cellular Biology, 2022
BEATRIZ Romartínez-Alonso, Maura Agostini, Nicholas C O Tomkinson   +2 more
exaly   +2 more sources

Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta [PDF]

Thyroid, 2021
Eveline Bruinstroop, Samuel Refetoff, Paul M Yen   +2 more
exaly   +2 more sources

The Syndromes of Resistance to Thyroid Hormone Beta

罕见病研究, 2023
The syndrome of resistance to thyroid hormone(RTH) is a rare syndrome caused by the mutation of thyroid hormone receptor (TR) gene, which reduces the sensitivity of target organs to thyroid hormone (TH) and leads to the dysfunction of TH. Thyroid hormone
WANG Huangman, SHAN Zhongyan, TENG Xiaochun   +2 more
doaj   +1 more source