Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.N359Y
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THRA

NM_199334.5:p.N359Y

Associated Papers

Nuclear receptor corepressor 1 levels differentially impact the intracellular dynamics of mutant thyroid hormone receptors associated with resistance to thyroid hormone syndrome.

Simsek YK et al.

Molecular and Cellular Endocrinology, 2024

Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.

Wilpert NM et al.

International Journal of Molecular Sciences, 2024

39201272 (PubMed )
Supplement: ijms-25-08585-s001.zip › Table_S1.xlsx › Table_S1

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.

Persani L et al.

European Thyroid Journal, 2024

38963712 (PubMed )
Supplement: supplementary_table_1.pdf

TRα2-An Untuned Second Fiddle or Fine-Tuning Thyroid Hormone Action?

Hönes GS et al.

International Journal of Molecular Sciences, 2022

What is the Role of Thyroid Hormone Receptor Alpha 2 (TRα2) in Human Physiology?

Paisdzior S et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2022

Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family.

Verma S et al.

Frontiers in Endocrinology, 2022

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.

Furman AE et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.

Paisdzior S et al.

International Journal of Molecular Sciences, 2021

34069457 (PubMed )
Supplement: ijms-22-05338-s001.zip › ijms-1156618-supplementary.pdf

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 Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults

Erbaş İM et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

Role of thyroid hormones in craniofacial development.

Leitch VD et al.

Nature Reviews. Endocrinology, 2020

New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA /TRα1.

Sun H et al.

Journal of the Endocrine Society, 2019

Thyroid diseases and bone health.

Williams GR et al.

Journal of Endocrinological Investigation, 2018

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

Resistance to Thyroid Hormone α-Emerging Definition of a Disorder of Thyroid Hormone Action.

Moran C et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics.

van Gucht AL et al.

Thyroid : Official Journal of the American Thyroid Association, 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

A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

Espiard S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Resistance to thyroid hormone due to defective thyroid receptor alpha.

Moran C et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2015

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

[Pendred's syndrome. Current features].

Wémeau JL et al.

Presse Medicale (paris, France : 1983), 2001

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