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

Polymorphism of a variant human thyrotropin receptor (hTSHR) gene.

Thyroid : official journal of the American Thyroid Association - 1 Jan 1994

Sunthornthepvarakul T, Hayashi Y, Refetoff S

Abstract excerpt

Sequencing of the human thyrotropin receptor (hTSHR) gene using genomic DNA from peripheral blood leukocytes revealed a substitution of nucleotide 253 in the cDNA sequence. The replacement of the wild-type cytosine-253 to adenine results in the replacement of the wild-type Pro at codon 52 (CCC) with Thr (ACC) located in exon 1 of the TSHR. We screened genomic DNAs from 60 unrelated individuals for the presence of...

Read the complete abstract on PubMed

Topics

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

Share to Genotype
Share to Base Sequence
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Molecular Sequence Data

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 7919995
DOI: 10.1089/thy.1994.4.147

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polymorphism of a variant human thyrotropin receptor (hTSHR) gene.PMID 7919995Read ↗

Lack of association between a polymorphism of human thyrotropin receptor gene and autoimmune thyroid disease.Semantic proximity Read ↗

A heritable point mutation in an extracellular domain of the TSH receptor involved in the interaction with Graves' immunoglobulins.Semantic proximity Read ↗

Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.Semantic proximity Read ↗

Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants.Semantic proximity Read ↗

Cloning and sequencing of a 1.3 KB variant of human thyrotropin receptor mRNA lacking the transmembrane domain.Semantic proximity Read ↗

A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone.Semantic proximity Read ↗

Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves' disease.Semantic proximity Read ↗

The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.Semantic proximity Read ↗

Functional characteristics of a variant thyrotropin receptor.Semantic proximity Read ↗

[Polymorphism of the 52 triplet gene (nucleotide 253) of the TSH receptor in Basedow-Graves patients and in healthy controls].Semantic proximity Read ↗

Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism.Semantic proximity Read ↗

Lack of association between polymorphism of the thyrotropin receptor gene and Graves' disease in United Kingdom and Hong Kong Chinese patients: case control and family-based studies.Semantic proximity Read ↗

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