Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations
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Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecanPseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionA mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasiaMultiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.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 COMPMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaArhgap28 is a RhoGAP that inactivates RhoA and downregulates stress fibersThe crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin bindingCharacterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix proteinMutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutationsSkeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagenMolecular basis of antiangiogenic thrombospondin-1 type 1 repeat domain interactions with CD36An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.Targeted induction of endoplasmic reticulum stress induces cartilage pathology.RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein.ADAMTS-12: a multifaced metalloproteinase in arthritis and inflammationMultiple epiphyseal dysplasiaMatrix assisted laser desorption ionization mass spectrometry imaging identifies markers of ageing and osteoarthritic cartilage.Genetic disorders of the skeleton: a developmental approachType IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage.A polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats.Pseudoachondroplasia/COMP - translating from the bench to the bedside.Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasiaIncreased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.The thrombospondins.Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case reportDifficult to control asthma in the patient with pseudoachondroplasia.Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.Cartilage oligomeric matrix protein enhances matrix assembly during chondrogenesis of human mesenchymal stem cells.A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutationCOMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasiaThe matrilins--adaptor proteins in the extracellular matrix.Proteomic analysis of Col11a1-associated protein complexes.
P2860
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P2860
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Pseudoachondroplasia and multi ...... type to phenotype correlations
@ast
Pseudoachondroplasia and multi ...... type to phenotype correlations
@en
Pseudoachondroplasia and multi ...... type to phenotype correlations
@nl
type
label
Pseudoachondroplasia and multi ...... type to phenotype correlations
@ast
Pseudoachondroplasia and multi ...... type to phenotype correlations
@en
Pseudoachondroplasia and multi ...... type to phenotype correlations
@nl
prefLabel
Pseudoachondroplasia and multi ...... type to phenotype correlations
@ast
Pseudoachondroplasia and multi ...... type to phenotype correlations
@en
Pseudoachondroplasia and multi ...... type to phenotype correlations
@nl
P2860
P3181
P356
P1433
P1476
Pseudoachondroplasia and multi ...... type to phenotype correlations
@en
P2093
Kathryn L Chapman
Michael D Briggs
P2860
P304
P3181
P356
10.1002/HUMU.10066
P407
P577
2002-05-01T00:00:00Z