INT181315

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Context Info
Confidence 0.54
First Reported 2005
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 2
Total Number 10
Disease Relevance 3.64
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.

cytosol (DPYD) small molecule metabolic process (DPYD) oxidoreductase activity (DPYD)
cytoplasm (DPYD)
DPYD (Homo sapiens)
Pain Link Frequency Relevance Heat
palliative 9 5.00 Very Low Very Low Very Low
Inflammation 1 5.00 Very Low Very Low Very Low
headache 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Hypercalcemia 8 99.80 Very High Very High Very High
Toxicity 279 98.04 Very High Very High Very High
Cancer 155 91.76 High High
Neurological Disease 9 91.60 High High
Disease 10 87.28 High High
Genomic Instability 9 78.72 Quite High
Stress 9 77.60 Quite High
Body Weight 4 30.08 Quite Low
Syndrome 9 16.64 Low Low
Diarrhoea 9 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Therefore, a conspicuous finding was a deep intronic mutation affecting DPD pre-mRNA splicing in five individuals.
Regulation (affecting) of DPD
1) Confidence 0.54 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955237 Disease Relevance 0.23 Pain Relevance 0
Our study demonstrates that a genomic deletion affecting DPYD and a deep intronic mutation affecting pre-mRNA splicing can cause severe 5FU-associated toxicity.
Regulation (affecting) of DPYD associated with toxicity
2) Confidence 0.54 Published 2010 Journal Hum Genet Section Abstract Doc Link PMC2955237 Disease Relevance 0.48 Pain Relevance 0
The present study showed the presence of a genomic deletion affecting DPYD and for the first time, a deep intronic mutation affecting DPD pre-mRNA splicing.
Regulation (affecting) of DPD
3) Confidence 0.54 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955237 Disease Relevance 0.36 Pain Relevance 0
The present study showed the presence of a genomic deletion affecting DPYD and for the first time, a deep intronic mutation affecting DPD pre-mRNA splicing.
Regulation (affecting) of DPYD
4) Confidence 0.54 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955237 Disease Relevance 0.36 Pain Relevance 0
The fact that a genomic deletion affecting DPYD was observed in only 1 out of 92 patients with reduced DPD activity and/or severe 5FU toxicity indicates that rearrangements in DPYD are not a major genetic cause underlying a partial DPD deficiency.
Regulation (affecting) of DPYD associated with toxicity
5) Confidence 0.54 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955237 Disease Relevance 0.54 Pain Relevance 0
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

Dihydropyrimidine dehydrogenase (DPD) is the initial enzyme acting in the catabolism of the widely used antineoplastic agent 5-fluorouracil (5FU).

Regulation (affecting) of dihydropyrimidine dehydrogenase associated with toxicity
6) Confidence 0.27 Published 2010 Journal Hum Genet Section Title Doc Link PMC2955237 Disease Relevance 0.44 Pain Relevance 0
A relatively large variation was observed for the exon 1.1 probe and unfortunately, no DNA was available anymore from this patient for further studies.Fig. 1Analysis of copy number changes in DPYD using MLPA. a The box-plots of the quantitative analysis of the copy number of the 23 coding exons and four intronic sequences of DPYD and nine control probes specific for DNA sequences outside DPYD of 92 cancer patients.
Regulation (changes) of DPYD associated with cancer
7) Confidence 0.24 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955237 Disease Relevance 0.31 Pain Relevance 0
So far, no deep intronic mutations in DPYD have been described affecting the splicing of DPD pre-mRNA.
Regulation (affecting) of DPD
8) Confidence 0.24 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955237 Disease Relevance 0.35 Pain Relevance 0
Recently, we showed that genomic deletions affecting DPYD occurred in 7% of paediatric patients with a complete DPD deficiency (van Kuilenburg et al. 2009).
Regulation (affecting) of DPYD
9) Confidence 0.24 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955237 Disease Relevance 0.34 Pain Relevance 0
However, the specific marker of bone resorption, urinary Dpd, was not altered.
Neg (not) Regulation (altered) of Dpd associated with hypercalcemia
10) Confidence 0.16 Published 2005 Journal Nutr J Section Body Doc Link PMC554088 Disease Relevance 0.23 Pain Relevance 0

General Comments

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