INT101487

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Context Info
Confidence 0.77
First Reported 2002
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 6
Disease Relevance 3.54
Pain Relevance 0

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

extracellular space (Fbn1) proteinaceous extracellular matrix (Fbn1)
Anatomy Link Frequency
fibroblasts 2
Fbn1 (Rattus norvegicus)
Pain Link Frequency Relevance Heat
Angina 4 21.08 Low Low
headache 8 10.00 Low Low
nud 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 100 99.68 Very High Very High Very High
Marfan Syndrome 108 99.62 Very High Very High Very High
Aortic Aneurysms 56 92.96 High High
Congenital Anomalies 6 86.40 High High
Aneurism 36 65.24 Quite High
Aortic Disease 4 60.72 Quite High
Aortic Valve Insufficiency 4 56.84 Quite High
Syndrome 12 56.56 Quite High
Malignant Neoplastic Disease 20 55.92 Quite High
Coronary Heart Disease 4 54.40 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The results from skin biopsies of 3 family members with TAAD were reported as suggestive for Marfan syndrome based on abnormal expression of FBN1 in fibroblasts.
Gene_expression (expression) of FBN1 in fibroblasts associated with marfan syndrome
1) Confidence 0.77 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2958900 Disease Relevance 0.99 Pain Relevance 0
Mutation analysis and FBN1 expression
Gene_expression (expression) of FBN1
2) Confidence 0.77 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2958900 Disease Relevance 0.59 Pain Relevance 0
Cultured fibroblasts were studied for fibrillin-1 synthesis and incorporation into the extracellular matrix (ECM) by performing quantitative metabolic labeling and immunohistochemical analysis.
Gene_expression (synthesis) of fibrillin-1 in fibroblasts
3) Confidence 0.75 Published 2002 Journal J. Neurosurg. Section Body Doc Link 11883832 Disease Relevance 0.17 Pain Relevance 0
The disease gene for TAAD in this kindred was mapped to a single interval with a significant lod score that peaked at the FBN1gene locus (Lod = 3.6, ?
Gene_expression (locus) of FBN1gene associated with disease
4) Confidence 0.67 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2958900 Disease Relevance 0.51 Pain Relevance 0
It is a general consensus that absence of FBN1 mutation does not exclude diagnosis because of high rates of false negative results, likely due to presence of intronic mutations.
Gene_expression (mutation) of FBN1
5) Confidence 0.67 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2958900 Disease Relevance 1.17 Pain Relevance 0
The authors demonstrated abnormalities in fibrillin-1 protein deposition in all patients examined, but only one person was found to have a fibrillin-1 abnormality typically found in classic Marfan syndrome.
Gene_expression (deposition) of fibrillin-1
6) Confidence 0.65 Published 2002 Journal J. Neurosurg. Section Body Doc Link 11883832 Disease Relevance 0.10 Pain Relevance 0

General Comments

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