Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.S398T
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TPO

NM_001206744.2:p.S398T

Associated Papers

Thyroid peroxidase gene variants and autoimmunity in subclinical hypothyroidism: molecular mechanisms and clinical implications.

Adam LN et al.

Molecular Biology Reports, 2025

Altered carnitine-acylcarnitine profiles in levothyroxine-treated congenital hypothyroid patients with fatigue: An LC-MS/MS-based study from Bangladesh.

Begum MN et al.

Plos One, 2025

Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.

Arteaga-Jacobo MC et al.

Medicina (kaunas, Lithuania), 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

High-resolution melt curve analysis: An approach for variant detection in the TPO gene of congenital hypothyroid patients in Bangladesh.

Begum MN et al.

Plos One, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.

Molina MF et al.

Endocrine, 2022

Molecular insights into the role of genetic determinants of congenital hypothyroidism.

Kollati Y et al.

Genomics & Informatics, 2021

Graves' disease: introducing new genetic and epigenetic contributors.

Razmara E et al.

Journal of Molecular Endocrinology, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_

Mutation Spectrum in TPO Gene of Bangladeshi Patients with Thyroid Dyshormonogenesis and Analysis of the Effects of Different Mutations on the Structural Features and Functions of TPO Protein through In Silico Approach.

Begum MN et al.

Biomed Research International, 2019

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Association between TPO Asn698Thr and Thr725Pro gene polymorphisms and serum anti-TPO levels in Iranian patients with subclinical hypothyroidism.

Khoshi A et al.

Hormones (athens, Greece), 2017

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Bougacha-Elleuch N et al.

European Journal of Pediatrics, 2015

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1

Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis.

Guria S et al.

International Journal of Endocrinology, 2014

Exomic sequencing of four rare central nervous system tumor types.

Bettegowda C et al.

Oncotarget, 2013

23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1c

A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter.

Lee CC et al.

International Journal of Endocrinology, 2013

Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism.

Ma SG et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.

Belforte FS et al.

Clinical Endocrinology, 2012

Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.

Neves SC et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2010

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.

Turkkahraman D et al.

Endocrine, 2010

Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).

Turkkahraman D et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.

Rivolta CM et al.

Clinical Endocrinology, 2007

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.

Avbelj M et al.

European Journal of Endocrinology, 2007

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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."