|
Seizures
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
|
21850436 |
2012 |
|
Electroencephalogram abnormal
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
|
21850436 |
2012 |
|
Global developmental delay
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
|
21850436 |
2012 |
|
Seizures
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Electroencephalogram abnormal
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Global developmental delay
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormal behavior
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
|
21850436 |
2012 |
|
Abnormal muscle tone
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
|
21850436 |
2012 |
|
Intellectual Disability
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
|
21850436 |
2012 |
|
Abnormality of head or neck
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
|
21850436 |
2012 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study was performed to investigate mutations in the dihydropteroate synthase (DHPS) gene and their clinical consequences in HIV-infected patients with PCP.
|
30658203 |
2019 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Especially with the long-term use of trimethoprim-sulfamethoxazole (TMP-SMX) and dapsone, certain point mutations in the Pneumocystis jirovecii (P. jirovecii) dihydropteroate synthase (DHPS) gene are known to play an important role in the development of resistance.
|
30027382 |
2018 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pneumocystis jirovecii 23S mitochondrial large subunit of ribosomal RNA (23S mtLSU-rRNA), 26S rRNA, and dihydropteroate synthase (DHPS) genes were amplified by polymerase chain reaction (PCR), sequenced, and analysed for genetic variation.
|
29992629 |
2018 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
Biomarker
|
disease |
BEFREE |
A transmission map was drawn up.P. jirovecii typing at DHPS, ITS and mtLSU rRNA sequences was performed in the patients of the cluster (18 patients with Pneumocystis pneumonia (PCP) and seven colonized patients), 10 unlinked control patients (six PCP patients and four colonized patients), as well as 23 other patients diagnosed with P. jirovecii (nine PCP patients and 14 colonized patients) in the same department over a three-year post-epidemic period.
|
28943270 |
2018 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dihydropteroate synthase (DHPS) gene of Pneumocystis jirovecii are associated with the failure of sulfa prophylaxis.
|
27855071 |
2017 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The dihydropteroate sulfate (DHPS) gene is associated with resistance to sulfa/sulfone drugs in Pneumocystis jirovecii.
|
25631478 |
2015 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular analysis based on mtLSU-rRNA and DHPS sequences of Pneumocystis jirovecii from immunocompromised and immunocompetent patients in Italy.
|
23183313 |
2013 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pneumocystis jirovecii dihydropteroate synthase (DHPS) gene mutations are well-reported.
|
23470037 |
2013 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Low prevalence of Pneumocystis pneumonia (PCP) but high prevalence of pneumocystis dihydropteroate synthase (dhps) gene mutations in HIV-infected persons in Uganda.
|
23166805 |
2012 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dihydropteroate synthase (DHPS) gene mutation study in HIV-Infected Indian patients with Pneumocystis jirovecii pneumonia.
|
21252456 |
2010 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to determine whether the prevalence of Pneumocystis jirovecii dihydropteroate synthase (DHPS) gene mutations has changed since the introduction of combined antiretroviral therapy (cART) and whether the mutations are associated with poor outcome in Spanish HIV-1-infected patients with Pneumocystis pneumonia (PcP).
|
20727472 |
2010 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The CYB, DHFR, DHPS, mtLSU rRNA, SOD and the ITS loci are suitable genetic targets to be used in further epidemiological studies focused on the identification and characterization of P. jirovecii haplotypes correlated with drug resistance and PcP outcome.
|
20722602 |
2010 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linking Pneumocystis jiroveci sulfamethoxazole resistance to the alleles of the DHPS gene using functional complementation in Saccharomyces cerevisiae.
|
19673964 |
2010 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pneumocystis jirovecii dihydropteroate synthase (DHPS) gene mutations are associated with failure of sulfur prophylaxis of Pneumocystis pneumonia.
|
19085210 |
2009 |
|
Pneumocystis jiroveci pneumonia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The impact of Pneumocystis jirovecii (formerly P. carinii) dihydropteroate synthase (DHPS) gene mutations on morbidity and mortality of Pneumocystis pneumonia (PCP) in HIV-positive patients is unclear.
|
15867494 |
2005 |