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

PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling.

PloS one - 1 Jan 2016

Subramanian Hariharan, Döring Frank, Kollert Sina, Rukoyatkina Natalia, Sturm Julia, Gambaryan Stepan, Stellzig-Eisenhauer Angelika, Meyer-Marcotty Philipp, Eigenthaler Martin, Wischmeyer Erhard

Abstract excerpt

AIM: Primary failure of tooth eruption (PFE) is causally linked to heterozygous mutations of the parathyroid hormone receptor (PTH1R) gene. The mutants described so far lead to exchange of amino acids or truncation of the protein that may result in structural changes of the expressed PTH1R. However, functional effects of these mutations have not been investigated yet. MATERIALS AND METHODS: In HEK293 cells, PTH1R...

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion Molecules
Share to Cyclic AMP

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

Share to Electrophysiology

Share to Mitogen-Activated Protein Kinase 1

Share to Mitogen-Activated Protein Kinase 3

Share to Parathyroid Hormone

Share to Receptor, Parathyroid Hormone, Type 1

Share to Xenopus laevis

Source

Open in PubMed Open full text

Identifiers

PMID: 27898723
DOI: 10.1371/journal.pone.0167033
PMCID: PMC5127517

Genes

PTH
VASP

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

PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling.PMID 27898723Read ↗

In silico and functional evaluation of PTH1R mutations found in patients with primary failure of eruption (PFE).Semantic proximity Read ↗

Etiological Mechanisms and Genetic/Biological Modulation Related to PTH1R in Primary Failure of Tooth Eruption.Semantic proximity Read ↗

Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants.Semantic proximity Read ↗

Identification of a novel PTH1R variant in a family with primary failure of eruptionSemantic proximity Read ↗

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.Semantic proximity Read ↗

Functional Analysis of PTH1R Variants Found in Primary Failure of Eruption.Semantic proximity Read ↗

A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathwaySemantic proximity Read ↗

Identification of a novel PTH1R variant in a family with primary failure of eruption.Semantic proximity Read ↗

Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis.Semantic proximity Read ↗

Human diseases caused by homozygous PTH1R mutations.Semantic proximity Read ↗

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.Semantic proximity Read ↗

Live-cell imaging reveals decreased cAMP in a PFE-associated c.1050-3C>G PTH1R cell model.Semantic proximity Read ↗

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