Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.

Molecular and cellular endocrinology - 20 Aug 2021

Pio Mauricio Gomes, Siffo Sofia, Scheps Karen G, Molina Maricel F, Adrover Ezequiela, Abelleyro Miguel M, Rivolta Carina M, Targovnik Héctor M

Abstract excerpt

Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead to permanent congenital hypothyroidism. In the present work, we report a detailed population and bioinformatic prediction analyses of the TG variants indexed in the Genome Aggregation Database...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Algorithms
Share to Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Congenital Hypothyroidism

Share to Databases, Genetic

Share to Ethnicity

Share to Protein Domains

Share to Thyroglobulin

Source

Identifiers

PMID: 34119605
DOI: 10.1016/j.mce.2021.111359

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.PMID 34119605Read ↗

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review.Semantic proximity Read ↗

Clinical, Biochemical, and Molecular Genetic Characterization of Two Patients with Congenital Hypothyroidism Harboring Novel Compound Heterozygous Variants in the Thyroglobulin GeneSemantic proximity Read ↗

Structure and genetic variants of thyroglobulin: Pathophysiological implications.Semantic proximity Read ↗

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.Semantic proximity Read ↗

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.Semantic proximity Read ↗

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.Semantic proximity Read ↗

Thyroglobulin gene mutations in congenital hypothyroidism.Semantic proximity Read ↗

A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis.Semantic proximity Read ↗

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.Semantic proximity Read ↗

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.Semantic proximity Read ↗

Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk FactorsSemantic proximity Read ↗

Molecular advances in thyroglobulin disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.