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

Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.

Human molecular genetics - 15 Nov 2018

Forouhan Mitra, Sonntag Stephan, Boot-Handford Raymond P

Abstract excerpt

Mutations, mostly in the region of the COL10A1 gene encoding the C-terminal non-collagenous domain, cause the dwarfism metaphyseal chondrodysplasia type Schmid (MCDS). In most cases, the disease mechanism involves the misfolding of the mutant protein causing increased endoplasmic reticulum (ER) stress and an unfolded protein response (UPR). However, in an iliac crest biopsy, the COL10A1 p.Y632X mutation was found...

Read the complete abstract on PubMed

Topics

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

Share to Carbamazepine
Share to Chondrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Collagen Type X

Share to Endoplasmic Reticulum Stress

Share to Growth Plate

Share to Osteochondrodysplasias

Share to Unfolded Protein Response

Source

Open in PubMed Open full text

Identifiers

PMID: 30010889
DOI: 10.1093/hmg/ddy253
PMCID: PMC6216233

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.PMID 30010889Read ↗

Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.Semantic proximity Read ↗

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.Semantic proximity Read ↗

The effect of carbamazepine on bone structure and strength in control and Osteogenesis Imperfecta ( <i>Col1a2</i> <sup> +/ <i>p.G610C</i> </sup> ) miceSemantic proximity Read ↗

The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 +/p.G610C ) mice.Semantic proximity Read ↗

Elevated <em>MMP9</em> Expression – a Potential <em>In Vitro</em> Biomarker for COMPopathiesSemantic proximity Read ↗

Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.Semantic proximity Read ↗

Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response.Semantic proximity Read ↗

Deletion of Zfp521 rescues the growth plate phenotype in a mouse model of Jansen metaphyseal chondrodysplasia.Semantic proximity Read ↗

Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.Semantic proximity Read ↗

Chubby: a new autosomal recessive skeletal mutation producing dwarfism in the mouse.Semantic proximity Read ↗

A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

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