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

Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X.

Molecular endocrinology (Baltimore, Md.) - 1 Sept 2016

Kleinau Gunnar, Kalveram Laura, Köhrle Josef, Szkudlinski Mariusz, Schomburg Lutz, Biebermann Heike, Grüters-Kieslich Annette

Abstract excerpt

Naturally occurring thyrotropin (TSH) mutations are rare, which is also the case for the homologous heterodimeric glycoprotein hormones (GPHs) follitropin (FSH), lutropin (LH), and choriogonadotropin (CG). Patients with TSH-inactivating mutations present with central congenital hypothyroidism. Here, we summarize insights into the most frequent loss-of-function β-subunit of TSH mutation C105Vfs114X, which is...

Read the complete abstract on PubMed

Topics

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

Share to Chorionic Gonadotropin
Share to Follicle Stimulating Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycoproteins

Share to Luteinizing Hormone

Share to Mutation

Share to Thyrotropin

Source

Open in PubMed Open full text

Identifiers

PMID: 27387040
DOI: 10.1210/me.2016-1065
PMCID: PMC5414609

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X.PMID 27387040Read ↗

The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.Semantic proximity Read ↗

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.Semantic proximity Read ↗

Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe.Semantic proximity Read ↗

Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.Semantic proximity Read ↗

Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.Semantic proximity Read ↗

Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.Semantic proximity Read ↗

Minireview: Structural and Functional Evolution of the Thyrotropin ReceptorSemantic proximity Read ↗

Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated HyperthyrotropinemiaSemantic proximity Read ↗

A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.Semantic proximity Read ↗

Thyrotropin receptor-associated diseases: from adenomata to Graves disease.Semantic proximity Read ↗

Extended and Structurally Supported Insights into Extracellular Hormone Binding, Signal Transduction and Organization of the Thyrotropin ReceptorSemantic proximity Read ↗

The human thyrotropin receptor is highly mutable: a review of gain-of-function mutations.Semantic proximity Read ↗

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