INT135879

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Context Info
Confidence 0.80
First Reported 2005
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 12
Total Number 12
Disease Relevance 10.31
Pain Relevance 1.44

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

extracellular region (MATN3) proteinaceous extracellular matrix (MATN3)
Anatomy Link Frequency
joints 2
chondrocytes 1
forearms 1
MATN3 (Homo sapiens)
Pain Link Frequency Relevance Heat
Osteoarthritis 68 100.00 Very High Very High Very High
cINOD 7 96.24 Very High Very High Very High
Pain 40 95.36 Very High Very High Very High
Paracetamol 2 95.36 Very High Very High Very High
Arthritis 3 88.96 High High
rheumatoid arthritis 3 70.56 Quite High
adenocard 3 58.80 Quite High
Inflammation 12 53.88 Quite High
Pain scale 11 5.00 Very Low Very Low Very Low
headache 8 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Osteoarthropathy 37 100.00 Very High Very High Very High
Osteochondrodysplasias 354 99.84 Very High Very High Very High
Cv General 4 Under Development 1 99.20 Very High Very High Very High
Chondrosarcoma 12 98.90 Very High Very High Very High
Syndrome 10 98.44 Very High Very High Very High
Pulmonary Disease 1 97.76 Very High Very High Very High
Cleidocranial Dysplasia 33 97.12 Very High Very High Very High
Sepsis 1 96.68 Very High Very High Very High
Lung Cancer 2 96.64 Very High Very High Very High
Arthralgia 7 96.16 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
These data therefore suggested that the p.Val194Asp mutation prevented the proper trafficking and secretion of matrilin-3, whereas as the p.Glu252Lys polymorphism did not.


Localization (secretion) of matrilin
1) Confidence 0.80 Published 2005 Journal Human Mutation Section Body Doc Link PMC2726956 Disease Relevance 0.57 Pain Relevance 0
To determine the effect of MED mutations on the secretion of matrilin-3 we cloned and expressed in mammalian cells full-length wt matrilin-3 and matrilin-3 harboring a MED mutation (p.Val194Asp) and non-synonymous polymorphism (p.Glu252Lys).
Localization (secretion) of matrilin associated with osteochondrodysplasias
2) Confidence 0.80 Published 2005 Journal Human Mutation Section Body Doc Link PMC2726956 Disease Relevance 0.66 Pain Relevance 0
More recently, Hecht et al. [2005] showed that mutant COMP can also dramatically affect the secretion of normal matrilin-3 from PSACH chondrocytes.
Localization (secretion) of matrilin in chondrocytes
3) Confidence 0.80 Published 2005 Journal Human Mutation Section Body Doc Link PMC2726956 Disease Relevance 0.45 Pain Relevance 0
To study the effect of these mutations on the secretion of matrilin-3 we cloned and expressed full-length wt, mutant (p.Val194Asp) and polymorphic (p.Glu252Lys) matrilin-3 in mammalian cells.
Localization (secretion) of matrilin
4) Confidence 0.80 Published 2005 Journal Human Mutation Section Body Doc Link PMC2726956 Disease Relevance 0.81 Pain Relevance 0
Wild-type (wt) matrilin-3 was efficiently secreted into conditioned medium, whereas mutant matrilin-3 was retained and accumulated within the cell.
Localization (secreted) of matrilin
5) Confidence 0.80 Published 2005 Journal Human Mutation Section Abstract Doc Link PMC2726956 Disease Relevance 0.77 Pain Relevance 0.12
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in adulthood.

Localization (secretion) of MATN3 in joints associated with pain, osteochondrodysplasias, cleidocranial dysplasia, osteoarthritis and growth problems
6) Confidence 0.75 Published 2005 Journal Human Mutation Section Title Doc Link PMC2726956 Disease Relevance 0.89 Pain Relevance 0.14
Wild-type (wt) matrilin-3 was efficiently secreted into conditioned medium, whereas mutant matrilin-3 was retained and accumulated within the cell.
Localization (secreted) of matrilin
7) Confidence 0.70 Published 2005 Journal Human Mutation Section Abstract Doc Link PMC2726956 Disease Relevance 0.77 Pain Relevance 0.12
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in adulthood.

Localization (secretion) of matrilin in joints associated with pain, osteochondrodysplasias, cleidocranial dysplasia, osteoarthritis and growth problems
8) Confidence 0.70 Published 2005 Journal Human Mutation Section Title Doc Link PMC2726956 Disease Relevance 0.89 Pain Relevance 0.14
The presentation of HOA sometimes precedes the diagnosis of underlining malignancies, and consists of finger clubbing, polyarthralgia, and pain and swelling of forearms and lower thighs.
Localization (presentation) of HOA in forearms associated with pain, pressure and volume under development, arthralgia and osteoarthropathy
9) Confidence 0.64 Published 2010 Journal Gan To Kagaku Ryoho Section Abstract Doc Link 20567102 Disease Relevance 1.91 Pain Relevance 0.14
The finding of symptoms and signs of localized HOA in patients with arterial prosthesis may be the presenting manifestation of graft sepsis.
Localization (localized) of HOA associated with osteoarthropathy and sepsis
10) Confidence 0.60 Published 2006 Journal Medicine (Baltimore) Section Abstract Doc Link 16721260 Disease Relevance 1.26 Pain Relevance 0.08
We also demonstrated in RCS cells that shRNA 3B efficiently reduced intracellular retention of MT-COMP, MATN3 and type IX collagen, thereby preventing the development of intracellular matrix that defines the PSACH and MED/EDM1 cellular phenotype.
Localization (retention) of MATN3 associated with chondrosarcoma
11) Confidence 0.50 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2858657 Disease Relevance 0.35 Pain Relevance 0
For feasibility reasons we chose not to include other hand indexes that are alternatives to AUSCAN in the assessment of HOA.40 41
Localization (assessment) of HOA associated with osteoarthritis
12) Confidence 0.13 Published 2008 Journal Annals of the Rheumatic Diseases Section Body Doc Link PMC2564788 Disease Relevance 0.98 Pain Relevance 0.70

General Comments

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