|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Different tests based on assessing DPD enzyme activity, genetic variants in DPYD and mRNA variants have been studied for screening for DPD deficiency, but none of these are implemented broadly into clinical practice.
|
23856855 |
2013 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leu, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport.
|
11988088 |
2002 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.
|
28929491 |
2018 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, severe toxicity is a major clinical problem and has been reported in association with deleterious sequence variants in dihydropyrimidine dehydrogenase (DPD) coding-gene (DPYD), causing DPD deficiency.
|
19795123 |
2010 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DPD gene mutation analysis was negative for the IVS14+1G>A mutation in the DPD gene, which accounts for 50% of the DPD deficiency alleles.
|
30875351 |
2019 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria.
|
8083224 |
1994 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotypic studies have identified >32 sequence variants in the DPYD gene; however, in a number of cases, sequence variants could not explain the molecular basis of DPD deficiency.
|
16361556 |
2005 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dihydropyrimidine dehydrogenase is prone to marked circadian rhythms, drug-drug interactions, and genetic polymorphisms; influence of its erratic activity on 5-FU pharmacokinetics and toxicity profile has been extensively investigated, and it is now well known that DPD deficiency leads to severe toxicities with 5-FU or possibly capecitabine exposure.
|
17241513 |
2006 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.
|
26265035 |
2016 |
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with partial DPD deficiency appeared to have a 3.4-fold higher risk of developing grade IV neutropenia than patients with normal DPD activity.
|
12209976 |
2002 |
|
Colorectal Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
The observed overexpression of several 5-FU activating genes and DPYD downregulation deduce that chemotherapy naïve colorectal tumors share favorable gene expression profile for 5-FU therapy.
|
27733154 |
2016 |
|
Colorectal Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
There was no correlation among DPD, TS, and TP expression values in this set of colorectal tumors, which indicated that these gene expressions are independent variables.
|
10778957 |
2000 |
|
Colorectal Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
In this study, the mRNA expression levels of these 81 selected genes and the genes of 5-FU-related enzymes, including thymidylate synthase (TS), dihydropyrimidine dehydrogenase (DPD) and orotate phosphoribosyltransferase (OPRT), were measured using real-time quantitative RT-PCR assays of surgically resected materials from primary colorectal tumors in 22 patients.
|
16477629 |
2006 |
|
Colorectal Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Median gene expression levels of TP and TS did not differ significantly between primary colorectal tumor and corresponding lymph node metastasis but median DPD gene expression levels in the lymph node metastases were significantly higher compared to matched primary colorectal tumors (p=0.015).
|
16391809 |
2006 |
|
Colorectal Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
We did not find any significant differences in TS, TP and DPD gene expression between colorectal tumor and surrounding mucosa.
|
15875081 |
2005 |
|
Colorectal Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
The tumor:normal ratio for DPD mRNA, protein, and activity was relatively stable in liver (0.25, 0.55, and 0.51, respectively) but varied considerably in colon (0.085, 0.9, and 1.25, respectively), consistent with enhanced translation of DPD transcript in primary colorectal tumor.
|
10499634 |
1999 |
|
Colorectal Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
In this study, we analyzed by real-time reverse transcription-PCR (RT-PCR) the expression of DPD and of members of the cellular oscillation machinery, period 1 (Per1), period 2 (Per2), and CLOCK, in primary colorectal tumors and normal colon mucosa derived from the same patients.
|
17699798 |
2007 |
|
Schizophrenia
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Differentially expressed genes that were confirmed by qPCR included others at genome-wide significant risk loci for schizophrenia (MAD1L1 and DPYD) and BDNF.
|
24556472 |
2014 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in DPD-coding gene (DPYD) were shown to increase the risk of severe toxicity in FP-treated cancer patients.
|
19288105 |
2009 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis.
|
30348537 |
2018 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Deficiency in human DPD is associated with autosomal recessive disease, thymine-uraciluria, and with severe 5-fluorouracil toxicity in cancer patients.
|
16556484 |
2007 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
1,4-DHP is a potent Voltage-Gated Calcium Channel (VGCC) antagonist derivative which acts as an anti-hypertensive, anti- anginal, anti-tumor, anti-inflammatory, anti-tubercular, anti-cancer, anti-hyperplasia, anti-mutagenic, anti-dyslipidemic, and anti-ulcer agent.
|
31735158 |
2019 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Methylation was detected in five of five DPD-deficient volunteers and in three of five of the DPD-deficient cancer patient samples.
|
16361556 |
2005 |
|
Malignant Neoplasms
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Intratumoral DPD mRNA expression level in pancreatic cancer was significantly higher than the other malignancies.
|
18309485 |
2008 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
A DPD-deficient phenotype among cancer patients, which has posed a serious problem in 5FU-based chemotherapy, was reported to be in part ascribed to germline mutations in dihydropyrimidine dehydrogenase (DPYD) gene.
|
11267945 |
2001 |