|
Tyrosinemia, Type III
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a boy with tyrosinemia Type III detected using neonatal screening, who is homozygous for the splice donor mutation IVS11+1G>A in intron 11 of the HPD gene.
|
23036342 |
2012 |
|
Tyrosinemia, Type III
|
0.940 |
Biomarker
|
disease |
BEFREE |
Congenital HPD deficiency is a rare, relatively benign condition known as hereditary type III tyrosinemia.
|
12127941 |
2002 |
|
Tyrosinemia, Type III
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III.
|
11073718 |
2000 |
|
Tyrosinemia, Type III
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III.
|
10942115 |
2000 |
|
Hawkinsinuria
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Two mutations of HPD gene, A33T, which are associated with hawkinsinuria and a novel one (V212M) were detected for the 1st time in Greek newborns.
|
26226126 |
2016 |
|
Hawkinsinuria
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.
|
20677779 |
2010 |
|
Hawkinsinuria
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria.
|
11073718 |
2000 |
|
Tyrosinemias
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
The enzyme, 4-hydroxyphenylpyruvate dioxygenase (HPD), is critical to tyrosine metabolism; its deficiency can cause tyrosinemia.
|
31277952 |
2019 |
|
Tyrosinemias
|
0.440 |
Biomarker
|
disease |
BEFREE |
We observed long-term postnatal persistence of edited cells in both models, with reduction of plasma PCSK9 and cholesterol levels following in utero Pcsk9 targeting and rescue of the lethal phenotype of hereditary tyrosinemia type 1 following in utero Hpd targeting.
|
30297903 |
2018 |
|
Tyrosinemias
|
0.440 |
AlteredExpression
|
disease |
BEFREE |
Research discovered that NTBC caused tyrosinaemia which was due to inhibition of the enzyme 4-hydroxyphenylpyruvate dioxygenase in both mammals and plants thereby finding a novel target for killing plants.
|
28755195 |
2017 |
|
Tyrosinemias
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human HPD gene (encoding 4-hydroxyphenylpyruvic acid dioxygenase) cause hereditary tyrosinemia type 3 (HT3).
|
16896227 |
2006 |
|
Tyrosinemia, Type I
|
0.360 |
Biomarker
|
disease |
BEFREE |
Involved in the tyrosine degradation pathway, 4-hydroxyphenylpyruvate dioxygenase (HPPD) is an important target for treating type I tyrosinemia.
|
30684868 |
2019 |
|
Tyrosinemia, Type I
|
0.360 |
Biomarker
|
disease |
BEFREE |
Using tail-vein hydrodynamic-based delivery of NmeCas9 plasmid to target the Hpd gene, we successfully reprogram the tyrosine degradation pathway in Hereditary Tyrosinemia Type I mice.
|
30231914 |
2018 |
|
Tyrosinemia, Type I
|
0.360 |
Biomarker
|
disease |
BEFREE |
We observed long-term postnatal persistence of edited cells in both models, with reduction of plasma PCSK9 and cholesterol levels following in utero Pcsk9 targeting and rescue of the lethal phenotype of hereditary tyrosinemia type 1 following in utero Hpd targeting.
|
30297903 |
2018 |
|
Tyrosinemia, Type I
|
0.360 |
Biomarker
|
disease |
BEFREE |
4-Hydroxyphenylpyruvate dioxygenase (HPPD), converting phydroxyphenylpyruvate (HPPA) to homogentisate (HGA), is an important target for treating type I tyrosinemia and synthesizing novel herbicides due to its significant role in tyrosine catabolism.
|
28637410 |
2017 |
|
Tyrosinemia, Type I
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
4-hydroxyphenylpyruvate dioxygenase activity in liver was normal, which is atypical for tyrosinemia type I.
|
20003495 |
2009 |
|
Tyrosinemia, Type I
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
The severe type I tyrosinemia, caused by a deficiency of fumarylacetoacetate hydrolase which functions downstream of HPD in the tyrosine degradation pathway, is often associated with decreased expression of HPD, and interestingly, inhibition of HPD activity seems to ameliorate the clinical symptoms of type I tyrosinemia.
|
12127941 |
2002 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
PPD skin test was positive but tuberculosis antibody test and T-SPOT were negative.
|
30813161 |
2019 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The current results indicate that PPD is a better antigen for antibody-based detection of TB than ESAT-6 and CFP-10.
|
31421107 |
2019 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Synergy between tuberculin skin test and proliferative T cell responses to PPD or cell-membrane antigens of Mycobacterium tuberculosis for detection of latent TB infection in a high disease-burden setting.
|
30248144 |
2018 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Highest diagnostic accuracies for active TB (AUC ≥ 0.91) were achieved for: (i) CD27 within IFN-γ<sup>+</sup>TNF-α<sup>+</sup>CD4<sup>+</sup> T-cells in response to ESAT-6/CFP-10, (ii) CD27 and CCR4 markers together within IFN-γ<sup>+</sup>CD4<sup>+</sup> T-cells in response to PPD, and (iii) CD27 MFI ratio performed on IFN-γ<sup>+</sup>TNF-α<sup>+</sup>CD4<sup>+</sup> T-cells after ESAT-6/CFP-10 stimulation.
|
30687314 |
2018 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Finally, we also measured the levels of IL-10 family cytokines in tuberculosis antigen (purified protein derivative, PPD) stimulated and unstimulated LN culture supernatants.
|
29871780 |
2018 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Comparative sensitivity of the test with tuberculosis recombinant allergen, containing ESAT6-CFP10 protein, and Mantoux test with 2 TU PPD-L in newly diagnosed tuberculosis children and adolescents in Moscow.
|
30576322 |
2018 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Immunity to 15 antigens including two QFT antigens, PPD and 12 non-QFT antigens (representing early, constitutive and latent Mtb infection) was assessed by measuring immune responses using whole-blood antigen stimulation and interferon gamma measurement.
|
28570574 |
2017 |
|
Tuberculosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To describe the factors associated with the induction of monocyte mitochondrial and membrane damage in response to PPD as well as determine if this type of damage might predict the susceptibility of developing active tuberculosis in a cohort of household contacts (HHCs) from Medellin, Colombia from 2005 to 2008.
|
28222109 |
2017 |