Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.P398H
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THRA

NM_199334.5:p.P398H

Associated Papers

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

The In Vitro Functional Impairment of Thyroid Hormone Receptor Alpha 1 Isoform Mutants Is Mainly Dictated by Reduced Ligand Sensitivity.

Wejaphikul K et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

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

Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients.

Kalikiri MK et al.

Autism Research : Official Journal of the International Society for Autism Research, 2017

In vivo Functional Consequences of Human THRA Variants Expressed in the Zebrafish.

Marelli F et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

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

Resistance to thyroid hormone due to defective thyroid receptor alpha.

Moran C et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2015

Thyroid hormone receptor sumoylation is required for preadipocyte differentiation and proliferation.

Liu YY et al.

The Journal of Biological Chemistry, 2015

Thyroid hormone receptors and resistance to thyroid hormone disorders.

Ortiga-Carvalho TM et al.

Nature Reviews. Endocrinology, 2014

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

Moran C et al.

The Lancet. Diabetes & Endocrinology, 2014

Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.

van Mullem AA et al.

European Thyroid Journal, 2014

Thyroid hormone receptor alpha gene variants increase the risk of developing obesity and show gene-diet interactions.

Fernández-Real JM et al.

International Journal of Obesity (2005), 2013

Serum copper as a novel biomarker for resistance to thyroid hormone.

Mittag J et al.

The Biochemical Journal, 2012

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

NCoR1 regulates thyroid hormone receptor isoform-dependent adipogenesis.

Zhu XG et al.

Journal of Molecular Endocrinology, 2011

New insights into regulation of lipid metabolism by thyroid hormone.

Zhu X et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2010

Molecular aspects of thyroid hormone actions.

Cheng SY et al.

Endocrine 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

Distinct dysregulation of lipid metabolism by unliganded thyroid hormone receptor isoforms.

Araki O et al.

Molecular Endocrinology (baltimore, Md.), 2009

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

An intron control region differentially regulates expression of thyroid hormone receptor beta2 in the cochlea, pituitary, and cone photoreceptors.

Jones I et al.

Molecular Endocrinology (baltimore, Md.), 2007

A mutant thyroid hormone receptor alpha antagonizes peroxisome proliferator-activated receptor alpha signaling in vivo and impairs fatty acid oxidation.

Liu YY et al.

Endocrinology, 2007

Thyroid hormone receptors in brain development and function.

Bernal J

Nature Clinical Practice. Endocrinology & Metabolism, 2007

Thyroid hormone resistance.

Olateju TO et al.

Annals of Clinical Biochemistry, 2006

Thyroid hormone-mediated negative transcriptional regulation of Necdin expression.

Nygård M et al.

Journal of Molecular Endocrinology, 2006

Characterization of skeletal phenotypes of TRalpha1 and TRbeta mutant mice: implications for tissue thyroid status and T3 target gene expression.

O'Shea PJ et al.

Nuclear Receptor Signaling, 2006

Thyroid hormone-dependent gene expression in differentiated embryonic stem cells and embryonal carcinoma cells: identification of novel thyroid hormone target genes by deoxyribonucleic acid microarray analysis.

Liu YY et al.

Endocrinology, 2005

A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors.

Perissi V et al.

Cell, 2004

A thyroid hormone receptor alpha gene mutation (P398H) is associated with visceral adiposity and impaired catecholamine-stimulated lipolysis in mice.

Liu YY et al.

The Journal of Biological Chemistry, 2003

Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1.

Tinnikov A et al.

The Embo Journal, 2002

Twists in the tail-change-of-function mutations in thyroid hormone receptors.

Forrest D

Endocrinology, 2002

A targeted thyroid hormone receptor alpha gene dominant-negative mutation (P398H) selectively impairs gene expression in differentiated embryonic stem cells.

Liu YY et al.

Endocrinology, 2002

[Pendred's syndrome. Current features].

Wémeau JL et al.

Presse Medicale (paris, France : 1983), 2001

A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.

McDermott JH et al.

Irish Journal of Medical Science, 0

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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."