INT242853

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Context Info
Confidence 0.42
First Reported 2008
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 10
Total Number 12
Disease Relevance 1.38
Pain Relevance 0.07

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

cell proliferation (TGFBI) extracellular space (TGFBI) extracellular region (TGFBI)
plasma membrane (TGFBI) extracellular matrix organization (TGFBI)
Anatomy Link Frequency
extracellular matrix 1
TGFBI (Homo sapiens)
TGFBI - R124C (1)
Pain Link Frequency Relevance Heat
Pain 19 73.28 Quite High
Disease Link Frequency Relevance Heat
Adhesions 31 100.00 Very High Very High Very High
Recurrence 44 95.24 Very High Very High Very High
Death 6 92.64 High High
Inborn Genetic Diseases 4 86.24 High High
Disease 69 85.12 High High
Wound Healing 3 82.96 Quite High
Alzheimer's Dementia 13 52.96 Quite High
Amyloid Plaque 20 46.36 Quite Low
Low Vision 6 40.84 Quite Low
Hereditary Corneal Dystrophies 2 23.72 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In addition, several atypical forms of LCD, which can not be classified as LCD I, II, III, IIIA, and IV, have been observed to be associated with various TGFBI mutations [16-18].
TGFBI Binding (associated) of
1) Confidence 0.42 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2786890 Disease Relevance 0.09 Pain Relevance 0
Here, we demonstrated an unusual R124C mutation in TGFBI associated with the RBCD, which was a mutation known to be responsible for corneal lattice dystrophy type I.
TGFBI (R124C) Binding (associated) of
2) Confidence 0.42 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2847680 Disease Relevance 0.07 Pain Relevance 0
Predominantly expressed by the corneal epithelium, TGFBI is believed to be an adhesion protein secreted into the extracellular matrix and bound to Type I, II, and IV collagens responsible for the structure of microfibrils and cell surface.
TGFBI Binding (bound) of in extracellular matrix associated with adhesions
3) Confidence 0.40 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2822555 Disease Relevance 0.10 Pain Relevance 0
Only LCD type II is caused by mutations in the GSN gene, while the others are all linked to mutant TGFBI and different phenotypes resulting from distinct mutation points in the same gene.
TGFBI Binding (linked) of
4) Confidence 0.33 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2786890 Disease Relevance 0.07 Pain Relevance 0
To date, TGFBI was the only gene found to be associated with RBCD.
TGFBI Binding (associated) of
5) Confidence 0.33 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2847680 Disease Relevance 0.07 Pain Relevance 0
It contains a Arg-Gly-Asp (RGD) motif that acts as a ligand recognition sequence for several integrins, and thus is associated with cell-collagen interactions with a role in the regulation of cell-adhesion.
RGD Binding (recognition) of associated with adhesions
6) Confidence 0.31 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2847680 Disease Relevance 0.34 Pain Relevance 0.07
Following linkage of CDB1 and other corneal dystrophies (Granular, Avellino, and Lattice) to 5q31 [8,9], Munier et al. [10] reported mutations in the TGFBI (transforming growth factor -beta-induced) gene (OMIM 601692) correlating the R555Q mutation with CDB1.
CDB1 Binding (linkage) of
7) Confidence 0.30 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2518171 Disease Relevance 0.10 Pain Relevance 0
With the addition of this report, significant phenotypic variability has now been demonstrated with the histidine at position 626, segregating with CDB, GCD, and LCD IIIB phenotypes.
CDB Binding (segregating) of
8) Confidence 0.23 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2518171 Disease Relevance 0.08 Pain Relevance 0
Features typically associated with CDB1 include marked visual loss (BCVA range pre-treatment 6/18?
CDB1 Binding (associated) of
9) Confidence 0.22 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2518171 Disease Relevance 0.25 Pain Relevance 0
In contrast CDB occurring with mutations other than the 124 or 555 mutations can be termed “Atypical” CDB; however histology is not recorded in these cases.
CDB Binding (termed) of
10) Confidence 0.20 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2518171 Disease Relevance 0.11 Pain Relevance 0
In contrast CDB occurring with mutations other than the 124 or 555 mutations can be termed “Atypical” CDB; however histology is not recorded in these cases.
CDB Binding (occurring) of
11) Confidence 0.20 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2518171 Disease Relevance 0.12 Pain Relevance 0
The association of this pedigree with the phenotype CDB and the mutation H626P is in keeping with the majority of the published TGFBI mutations occurring either at Arg124 or within the Fas4 domain, and the absence of this mutation in our 100 control chromosomes and in previous controls suggests it is pathogenic rather than polymorphic.
CDB Binding (association) of
12) Confidence 0.20 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2518171 Disease Relevance 0 Pain Relevance 0

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