INT262005

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Context Info
Confidence 0.62
First Reported 2009
Last Reported 2010
Negated 0
Speculated 1
Reported most in Body
Documents 4
Total Number 7
Disease Relevance 4.52
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.

small molecule metabolic process (CYP1B1) endoplasmic reticulum (CYP1B1)
Anatomy Link Frequency
outflow 1
CYP1B1 (Homo sapiens)
Pain Link Frequency Relevance Heat
anesthesia 16 39.36 Quite Low
halothane 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Glaucoma 642 98.68 Very High Very High Very High
Ocular Hypertension 78 96.64 Very High Very High Very High
Disease 79 94.64 High High
Congenital Anomalies 8 73.68 Quite High
Photophobia 6 48.08 Quite Low
Dystonia 3 46.80 Quite Low
Nervous System Injury 3 12.08 Low Low
Blindness 7 11.76 Low Low
Corneal Edema 7 5.00 Very Low Very Low Very Low
Hydrophthalmos 5 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
To experimentally assess the effect of the mutations on the function of CYP1B1 and to analyze whether different levels of enzymatic activity correlate with the phenotype, we analyzed their enzymatic activity and protein stability.
Regulation (effect) of CYP1B1
1) Confidence 0.62 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2645906 Disease Relevance 0 Pain Relevance 0
These data strongly suggested that p.C470Y which affect a critical amino-acid of CYP1B1, is a pathogenic mutation.
Regulation (affect) of CYP1B1
2) Confidence 0.60 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2901188 Disease Relevance 0.20 Pain Relevance 0
To verify the results of this pilot study, to further delineate the role of CYP1B1 mutations in the pathogenesis of PCG in the Omani population, and to identify new or modifier genes contributing to the manifestations of PCG in this region, further studies with a larger sample of patients are being planned.
Regulation (role) of CYP1B1 associated with glaucoma
3) Confidence 0.45 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2709423 Disease Relevance 0.66 Pain Relevance 0
To investigate the role of CYP1B1 mutations in the development of PCG in Spanish patients, we retrospectively studied a total of 38 unrelated families affected by the disease.
Spec (investigate) Regulation (role) of CYP1B1 associated with glaucoma and disease
4) Confidence 0.45 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2645906 Disease Relevance 0.63 Pain Relevance 0
In our study three patients were heterozygous for only one mutation in CYP1B1 or MYOC, and 46 (51.11%) didn’t carry any mutation.
Regulation (heterozygous) of CYP1B1
5) Confidence 0.44 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2901188 Disease Relevance 1.00 Pain Relevance 0
This cytochrome has been proposed to participate in iridocorneal angle development [32], thus alteration of CYP1B1 catalytic activity could impair the morphogenesis of the outflow angle, leading to IOP elevation and glaucoma.
Regulation (alteration) of CYP1B1 in outflow associated with glaucoma and ocular hypertension
6) Confidence 0.27 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2645906 Disease Relevance 0.83 Pain Relevance 0
Structural data analysis suggested that the p.R390S, along with p.R390H and p.R390C, could affect the stability of the CYP1B1 protein [5,47].
Regulation (affect) of CYP1B1 protein
7) Confidence 0.27 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2901188 Disease Relevance 1.21 Pain Relevance 0

General Comments

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