|
Dihydropyrimidinase deficiency
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
|
29054612 |
2017 |
|
Dihydropyrimidinuria
|
0.320 |
Biomarker
|
disease |
BEFREE |
Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable clinical phenotype.
|
9718352 |
1998 |
|
Dihydropyrimidinuria
|
0.320 |
Biomarker
|
disease |
BEFREE |
DPYS and CTSC were found to be associated with dihydropyrimidinuria and Papillon-Lefevre syndrome phenotypes using OMIM.
|
20797317 |
2010 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes.
|
7650604 |
1995 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
We have characterized patient-specific DHP receptor mutations in 11 probands of 33 independent hypoKPP kindreds that occur at one of two adjacent nucleotides within the same codon and predict substitution of a highly conserved arginine in the S4 segment of domain 4 with either histidine or glycine.
|
8004673 |
1994 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
No recombinants were found between HypoPP and D1S412 and a microsatellite contained within the DHP receptor alpha 1 subunit (CACLN1A3) gene.
|
7897626 |
1995 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Recent molecular work has shown that hypoPP is due to mutations in a skeletal muscle voltage-gated calcium channel: the dihydropyridine receptor (DHP receptor).
|
9196905 |
1997 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.
|
9132138 |
1997 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
We recently showed genetic linkage of hypoPP to loci on chromosome 1q31-32, co-localized with the DHP-sensitive calcium channel CACNL1A3.We propose to term this locus hypoPP-1.
|
7959693 |
1994 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S).
|
10599760 |
1999 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
The results indicate that the DHP-receptor alpha 1-subunit mutation causes HypoPP.
|
7987325 |
1994 |
|
Hypokalemic periodic paralysis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis.
|
8584443 |
1996 |
|
Septicemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
However, the prognostic factors of PMX-DHPs in patients with sepsis using the new definition are unclear.
|
29478200 |
2018 |
|
Septicemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
To evaluate the efficacy and safety of direct hemoperfusion with polymyxin B-immobilized fiber (PMX-DHP) therapy in patients with sepsis.
|
28092497 |
2017 |
|
Septicemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
To evaluate the effect of direct hemoperfusion with polymyxin B immobilized cartridge (DHP-PMX) on meropenem pharmacokinetics in critically ill patients with sepsis requiring continuous venovenous hemofiltration (CVVH).
|
30769293 |
2019 |
|
Sepsis
|
0.030 |
Biomarker
|
disease |
BEFREE |
To evaluate the efficacy and safety of direct hemoperfusion with polymyxin B-immobilized fiber (PMX-DHP) therapy in patients with sepsis.
|
28092497 |
2017 |
|
Sepsis
|
0.030 |
Biomarker
|
disease |
BEFREE |
However, the prognostic factors of PMX-DHPs in patients with sepsis using the new definition are unclear.
|
29478200 |
2018 |
|
Sepsis
|
0.030 |
Biomarker
|
disease |
BEFREE |
To evaluate the effect of direct hemoperfusion with polymyxin B immobilized cartridge (DHP-PMX) on meropenem pharmacokinetics in critically ill patients with sepsis requiring continuous venovenous hemofiltration (CVVH).
|
30769293 |
2019 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
We performed genotyping of DPYS based on denaturing high-performance liquid chromatography in 113 cancer patients including 67 with severe FP-related toxicity and 46 without toxicity excellently tolerating FPs treatment.
|
19649633 |
2010 |
|
Malignant Neoplasms
|
0.020 |
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 tumor of colon
|
0.020 |
Biomarker
|
disease |
BEFREE |
We performed genetic analyses of the family of a patient with advanced colon cancer who underwent radical colectomy followed by treatment with 5-FU prodrug capecitabine and developed severe toxicity attributable to a lack of DHP.
|
25915935 |
2015 |
|
Malignant tumor of colon
|
0.020 |
Biomarker
|
disease |
BEFREE |
Similarly NKX2-5, SPOCK2, SLC16A12, DPYS and GALR2 are candidate biomarkers for colon cancer (methylation range 60%-95%) and GALR2 hypermethylation showed a sensitivity of 85% and specificity of 95%.
|
18446232 |
2008 |
|
Diabetes
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The Diabetes Health Profile-18 (DHP-18) was developed to measure disease-specific health-related quality of life.
|
30613400 |
2018 |
|
Diabetes
|
0.020 |
Biomarker
|
disease |
BEFREE |
Developing preference-based measures for diabetes: DHP-3D and DHP-5D.
|
28477411 |
2017 |
|
Diabetes Mellitus
|
0.020 |
Biomarker
|
group |
BEFREE |
Developing preference-based measures for diabetes: DHP-3D and DHP-5D.
|
28477411 |
2017 |