Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.L400R
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THRA

NM_199334.5:p.L400R

Associated Papers

Thyroid Hormone Receptor α Regulates Autophagy, Mitochondrial Biogenesis, and Fatty Acid Use in Skeletal Muscle.

Zhou J et al.

Endocrinology, 2021

Generation and Characterization of a New Resistance to Thyroid Hormone Mouse Model with Thyroid Hormone Receptor Alpha Gene Mutation.

Liang Y et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Thyroid hormone receptor α in skeletal muscle is essential for T3-mediated increase in energy expenditure.

Nicolaisen TS et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Thyroid hormone receptors are required for the melatonin-dependent control of Rfrp gene expression in mice.

Quignon C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Role of thyroid hormones in craniofacial development.

Leitch VD et al.

Nature Reviews. Endocrinology, 2020

Syndromes of Resistance to Thyroid Hormone Action.

Persani L et al.

Experientia Supplementum (2012), 2019

CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone.

Markossian S et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

Vlaeminck-Guillem V et al.

Presse Medicale (paris, France : 1983), 2015

Thyroid hormone receptors and resistance to thyroid hormone disorders.

Ortiga-Carvalho TM et al.

Nature Reviews. Endocrinology, 2014

Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.

van Mullem AA et al.

European Thyroid Journal, 2014

Autonomous functions of murine thyroid hormone receptor TRα and TRβ in cochlear hair cells.

Dettling J et al.

Molecular and Cellular Endocrinology, 2014

Purkinje cells and Bergmann glia are primary targets of the TRα1 thyroid hormone receptor during mouse cerebellum postnatal development.

Fauquier T et al.

Development (cambridge, England), 2014

Different causes of reduced sensitivity to thyroid hormone: diagnosis and clinical management.

Visser WE et al.

Clinical Endocrinology, 2013

Severe impairment of cerebellum development in mice expressing a dominant-negative mutation inactivating thyroid hormone receptor alpha1 isoform.

Fauquier T et al.

Developmental Biology, 2011

Physiological consequences of the TRalpha1 aporeceptor state.

Mittag J et al.

Heart Failure Reviews, 2010

Use of a new model of transgenic mice to clarify the respective functions of thyroid hormone receptors in vivo.

Flamant F et al.

Heart Failure Reviews, 2010

A point mutation in the activation function 2 domain of thyroid hormone receptor alpha1 expressed after CRE-mediated recombination partially recapitulates hypothyroidism.

Quignodon L et al.

Molecular Endocrinology (baltimore, Md.), 2007

[Pendred's syndrome. Current features].

Wémeau JL et al.

Presse Medicale (paris, France : 1983), 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."