A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia (Q24642755)

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English	A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia	scientific article

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scholarly article

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A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia (English)

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Cartilage oligomeric matrix protein

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GOA release 2020-03-11

multiple epiphyseal dysplasia

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based on heuristic

inferred from title

Katarzyna A. Piróg

object named as

Katarzyna A Piróg

1

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Michael D Briggs

7

object named as

Michael D Briggs

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Yoshihisa Katakura

3

object named as

Yoshihisa Katakura

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Roger S Meadows

4

object named as

Roger S Meadows

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Raymond P Boot-Handford

6

object named as

Raymond P Boot-Handford

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author name string

Oihane Jaka

2

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Karl E Kadler

5

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language of work or name

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publication date

1 January 2010

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Human Molecular Genetics

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19

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1

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52-64

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Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

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=2792148

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

7 April 2017

The role of cartilage oligomeric matrix protein (COMP) in skeletal disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Tendinopathy--from basic science to treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Variability in tendon and knee joint biomechanics among inbred mouse strains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Tendon proteoglycans: biochemistry and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Role of extracellular matrix in adaptation of tendon and skeletal muscle to mechanical loading

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Characterization of a pseudoachondroplasia-associated mutation (His587 Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Collagen in connective tissue: from tendon to bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

The implications of the adaptable fatigue quality of tendons for their construction, repair and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Structure of the tendon connective tissue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

The distribution of cartilage oligomeric matrix protein (COMP) in tendon and its variation with tendon site, age and load

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

The biomechanical and biochemical properties of swine tendons--long term effects of exercise on the digital extensors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

The birth prevalence rates for the skeletal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Force transmission across muscle cell membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

The endoplasmic reticulum-sarcoplasmic reticulum connection: distribution of endoplasmic reticulum markers in the sarcoplasmic reticulum of skeletal muscle fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

27 September 2017

Bcl-2 overexpression prevents calcium overload and subsequent apoptosis in dystrophic myotubes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

30 May 2018

Decorin antisense gene therapy improves functional healing of early rabbit ligament scar with enhanced collagen fibrillogenesis in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

30 May 2018

On fundamental and phenomenological models, structure and mechanical properties of collagen, elastin and glycosaminoglycan complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

30 May 2018

Pattern recognition in bone dysplasias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

30 May 2018

Improved quantitation and discrimination of sulphated glycosaminoglycans by use of dimethylmethylene blue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

30 May 2018

COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

30 May 2018

Different types of osteochondrodysplasia in a consecutive series of newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792148

30 May 2018

Molecular cloning, sequencing, and tissue and developmental expression of mouse cartilage oligomeric matrix protein (COMP).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

Expression of apoptosis related proteins in normal and diseased muscle: a possible role for Bcl-2 in protection of striated muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

Skeletal dysplasia presenting as a neuromuscular disorder - report of three children.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

Collagen fibril morphology and organization: implications for force transmission in ligament and tendon.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

Ultrastructural immunolocalization of cartilage oligomeric matrix protein, thrombospondin-4, and collagen fibril size in rodent achilles tendon in relation to exercise

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP466

21 January 2018

Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history study of pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cartilage oligomeric matrix protein (COMP) is an abundant component of tendon

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tendons in health and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of fascia in maintenance of muscle tension and pressure

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

COMP acts as a catalyst in collagen fibrillogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen synthesis and proteolytic activities in rat skeletal muscles: effect of cast-immobilization in the lengthened and shortened positions

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of cartilage oligomeric matrix protein by human synovium

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical continuity of the perimysium from myofibers to tendons: involvement in lateral force transmission in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microstructural morphology in the transition region between scar and intact residual segments of a healing rat medial collateral ligament

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gastrocnemius muscle-tendon behaviour during walking in young and older adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adaptational responses of the human Achilles tendon by modulation of the applied cyclic strain magnitude

1 reference

https://pubmed.ncbi.nlm.nih.gov/19808781

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1093/HMG/DDP466

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