Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways (Q39735942)

14 September 2017

Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways (English)

1 reference

14 September 2017

Robert Dinser

1

1 reference

14 September 2017

Frank Zaucke

2

1 reference

14 September 2017

Florian Kreppel

3

1 reference

14 September 2017

Kjell Hultenby

4

1 reference

14 September 2017

Stefan Kochanek

5

1 reference

14 September 2017

Mats Paulsson

6

1 reference

14 September 2017

Patrik Maurer

7

1 reference

14 September 2017

language of work or name

English

0 references

publication date

1 August 2002

1 reference

Journal of Clinical Investigation

14 September 2017

1 reference

14 September 2017

110

1 reference

14 September 2017

4

1 reference

14 September 2017

505-513

1 reference

describes a project that uses

14 September 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC150414/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Cartilage oligomeric matrix protein-deficient mice have normal skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Comparison of long-term transgene expression after non-viral and adenoviral gene transfer into primary articular chondrocytes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Oligosaccharide-based information in endoplasmic reticulum quality control and other biological systems

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

High-capacity adenoviral vectors for gene transfer and somatic gene therapy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

COL9A3: A third locus for multiple epiphyseal dysplasia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Herpes simplex virus type 1 glycoprotein B requires a cysteine residue at position 633 for folding, processing, and incorporation into mature infectious virus particles

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Promotion of transferrin folding by cyclic interactions with calnexin and calreticulin

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Post-translational modifications in cartilage oligomeric matrix protein. Characterization of the N-linked oligosaccharides by matrix-assisted laser desorption ionization time-of-flight mass spectrometry

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Multiple molecular chaperones complex with misfolded large oligomeric glycoproteins in the endoplasmic reticulum

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Characterization of human and mouse cartilage oligomeric matrix protein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Cartilage and bone metabolism in rheumatoid arthritis. Differences between rapid and slow progression of disease identified by serum markers of cartilage metabolism

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Molecular structure, processing, and tissue distribution of matrilin-4.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Changes in serum cartilage marker levels indicate altered cartilage metabolism in families with the osteoarthritis-related type II collagen gene COL2A1 mutation

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Cartilage oligomeric matrix protein (COMP) and collagen IX are sensitive markers for the differentiation state of articular primary chondrocytes

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: disorders of protein trafficking and the role of ER molecular chaperones

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

A DNA-based method to assay total and infectious particle contents and helper virus contamination in high-capacity adenoviral vector preparations

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

Persistent high serum levels of cartilage oligomeric matrix protein in a subgroup of patients with traumatic knee injury

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

A large family with multiple epiphyseal dysplasia linked to COL9A2 gene

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=150414

The biochemical defect of pseudoachondroplasia

20 August 2018

1 reference

12 December 2020

Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture

1 reference

12 December 2020

Electron microscopy of native cartilage oligomeric matrix protein purified from the Swarm rat chondrosarcoma reveals a five-armed structure

1 reference

12 December 2020

Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage

1 reference

12 December 2020

Distribution of integrin subunits on rat metaphyseal osteoclasts and osteoblasts

1 reference

12 December 2020

Phenotypic stability of bovine articular chondrocytes after long-term culture in alginate beads

1 reference

12 December 2020

International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone

1 reference

12 December 2020

Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes

1 reference

12 December 2020

Distribution of cartilage molecules in the developing mouse joint

1 reference

12 December 2020

A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain

1 reference

12 December 2020

COMP (cartilage oligomeric matrix protein) is synthesized in ligament, tendon, meniscus, and articular cartilage

1 reference

12 December 2020

A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia

1 reference

12 December 2020

Ultrastructural immunolocalization of cartilage oligomeric matrix protein (COMP) in porcine growth cartilage

1 reference

12 December 2020

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI0214386

1 reference

14 September 2017

1 reference

14 September 2017

PubMed publication ID

12189245

1 reference