Literature DB >> 29892829

TRα Mutations in Human.

C Briet1, Natacha Bouhours-Nouet1, F Illouz1, D Prunier-Mirebeau1, P Rodien2.   

Abstract

Resistance to thyroid hormone alpha is an emerging syndrome, with up to now a limited number of published cases. Some features are common to most of the patients, but there is still some work to provide a comprehensive description of the full spectrum of the syndrome. A survey of the strategy to screen for and characterize the mutations in TR α gene is given.

Entities:  

Keywords:  Resistance to thyroid hormone; THRA gene; Thyroid hormone receptor mutation

Mesh:

Substances:

Year:  2018        PMID: 29892829     DOI: 10.1007/978-1-4939-7902-8_19

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  2 in total

Review 1.  Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Authors:  Paola Concolino; Alessandra Costella; Rosa Maria Paragliola
Journal:  Mol Diagn Ther       Date:  2019-06       Impact factor: 4.074

Review 2.  Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back.

Authors:  Giuditta Rurale; Emery Di Cicco; Monica Dentice; Domenico Salvatore; Luca Persani; Federica Marelli; Cristina Luongo
Journal:  Front Endocrinol (Lausanne)       Date:  2020-01-24       Impact factor: 5.555

  2 in total

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