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

Multiple genetic factors in the heterogeneity of thyroid hormone resistance.

The Journal of clinical endocrinology and metabolism - 1 Jan 1993

Weiss R E, Marcocci C, Bruno-Bossio G, Refetoff S

Abstract excerpt

Generalized resistance to thyroid hormone (GRTH), a syndrome of inherited tissue hyposensitivity to thyroid hormone, is linked to thyroid hormone receptor (TR) mutations. A typical feature of GRTH is variable severity of organ involvement among families that, surprisingly, does not correlate with the degree of T3-binding impairment of the corresponding in vitro synthesized mutant TRs. Furthermore, variations in...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cloning, Molecular
Share to Drug Resistance

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

Share to Mutation

Share to Oligodeoxyribonucleotides

Share to Polymerase Chain Reaction

Share to Receptors, Thyroid Hormone

Share to Triiodothyronine

Source

Identifiers

PMID: 8421095
DOI: 10.1210/jcem.76.1.8421095

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiple genetic factors in the heterogeneity of thyroid hormone resistance.PMID 8421095Read ↗

Resistance to thyroid hormone and its molecular basis.Semantic proximity Read ↗

The variable clinical phenotype in thyroid hormone resistance syndrome.Semantic proximity Read ↗

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.Semantic proximity Read ↗

Thyroid hormone resistance.Semantic proximity Read ↗

Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.Semantic proximity Read ↗

Resistance to thyroid hormone.Semantic proximity Read ↗

Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.Semantic proximity Read ↗

New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone.Semantic proximity Read ↗

A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.Semantic proximity Read ↗

The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.Semantic proximity Read ↗

Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.Semantic proximity Read ↗

Phenotypic variability in patients with generalised resistance to thyroid hormone.Semantic proximity Read ↗

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