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

Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.

The Journal of clinical endocrinology and metabolism - 1 Mar 2007

Hoogendam J, Farih-Sips H, Wÿnaendts L C, Löwik C W G M, Wit J M, Karperien M

Abstract excerpt

CONTEXT: The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases resulting from mutations in the PTHR1 gene. Among these diseases is Blomstrand osteochondrodysplasia (BOCD). OBJECTIVE: BOCD can be divided into two types, depending on the severity of the skeletal abnormalities. The molecular basis for this heterogenic presentation is unknown. DESIGN AND...

Read the complete abstract on PubMed

Topics

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

Share to Chlorocebus aethiops
Share to COS Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Models, Biological

Share to Osteochondrodysplasias

Share to Parathyroid Hormone

Share to Receptor, Parathyroid Hormone, Type 1

Share to Transfection

Source

Identifiers

PMID: 17164305
DOI: 10.1210/jc.2006-0300

Genes

PTH

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

Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.PMID 17164305Read ↗

A Frame-Shift Mutation in the Type I Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Causing Blomstrand Lethal OsteochondrodysplasiaSemantic proximity Read ↗

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.Semantic proximity Read ↗

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

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

A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.Semantic proximity Read ↗

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromesSemantic proximity Read ↗

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.Semantic proximity Read ↗

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

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

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

A new acro-osteolysis syndrome caused by duplications including PTHLH.Semantic proximity Read ↗

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.Semantic proximity Read ↗

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