|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.
|
31177591 |
2019 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
While identifying the cellular pathologic mechanisms underlying the murine mutant (MT)-COMP model of pseudoachondroplasia, increased midline-1 (MID1) expression and mammalian target of rapamycin complex 1 (mTORC1) signaling was found.
|
30553437 |
2019 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pseudoachondroplasia is a diverse group of skeletal dysplasias with a common pathway of altered cartilage oligomeric matrix protein (COMP) production.
|
27299778 |
2018 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Previously, we showed that massive accumulation of misfolded COMP in the ER of growth plate chondrocytes in our MT-COMP mouse model of pseudoachondroplasia (PSACH) causes premature chondrocyte death and loss of linear growth.
|
29309831 |
2018 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
COMPopathies describe pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), two skeletal dysplasias caused by autosomal dominant COMP mutations.
|
29530484 |
2018 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The phenotypic spectrum associated with heterozygous mutations in cartilage oligomeric matrix protein gene (COMP) range from a mild form of multiple epiphyseal dysplasia (MED) to pseudoachondroplasia (PSACH).
|
28685811 |
2018 |
|
Pseudoachondroplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We demonstrate delivery of human cartilage oligomeric matrix protein-specific antisense oligonucleotides to cartilage and reduction of cartilage oligomeric matrix protein expression, which largely alleviates pseudoachondroplasia growth plate chondrocyte pathology.
|
28162960 |
2017 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that hZα<sub>ADAR1</sub> binding with the GAC hairpin stem in <i>COMP</i> can lead to a non-genetic, RNA editing-mediated substitution in COMP that may then play a crucial role in the development of pseudoachondroplasia.
|
28924040 |
2017 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified a novel <i>COMP</i> mutation (c.1675G>A, p.Glu559Lys) in a Chinese PSACH family.
|
29104872 |
2017 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.
|
27432013 |
2016 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
TSP-5 or Cartilage Oligomeric Matrix Protein (COMP) is the only TSP that has been associated with skeletal disorders in humans, including pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED).
|
24997222 |
2014 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Modulation of prenatal and postnatal expression of D469del-COMP showed minimal retention/cell death at P7 with some retention/cell death by P14, suggesting that earlier treatment intervention at the time of PSACH diagnosis may produce optimal results.
|
24194321 |
2014 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pseudoachondroplasia/COMP - translating from the bench to the bedside.
|
24892720 |
2014 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results of this analysis demonstrate that mutations in specific residues and/or regions of the type III repeats of COMP are significantly associated with either PSACH or MED.
|
24595329 |
2014 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the spectrum of known mutations in COMP leading to pseudoachondroplasia.
|
23562786 |
2013 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Overall, these data suggest that a novel form of chondrocyte stress triggered by the expression of mutant COMP is central to the pathogenesis of PSACH.
|
22006726 |
2012 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3).
|
21922596 |
2012 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3).
|
21922596 |
2012 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.
|
21599986 |
2011 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human cartilage oligomeric matrix protein (COMP) cause multiple epiphyseal dysplasia or pseudoachondroplasia.
|
20936634 |
2011 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study confirms the relationship between mutations of the COMP gene and clinical findings of pseudoachondroplasia; it also provides evidence for the importance of the calcium binding domains to the functioning of COMP.
|
21644213 |
2011 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report an 81% mutation detection rate for PSACH, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%).
|
21042783 |
2010 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COMP gene cause PSACH and some cases of multiple epiphyseal dysplasia.
|
20830670 |
2010 |
|
Pseudoachondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we investigated the role of this gene and the serum COMP concentration in Chinese patients with PSACH.
|
20819661 |
2010 |
|
Pseudoachondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures.
|
20578249 |
2010 |