Variegate Porphyria
|
0.900 |
Biomarker
|
disease |
BEFREE |
These diseases are caused by a deficiency of coproporphyrinogen oxidase (CPOX) in HCP, and protoporphyrinogen oxidase (PPOX) in VP.
|
30476629 |
2019 |
Variegate Porphyria
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific.
|
29516370 |
2018 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Only 2 (4% [CI, 0.01% to 15%]) had evidence of the phenotypes predicted by an MDR result (fundus albipunctatus due to RDH5 and variegate porphyria due to PPOX).
|
28654958 |
2017 |
Variegate Porphyria
|
0.900 |
Biomarker
|
disease |
BEFREE |
The partial deficiency of protoporphyrinogen oxidase causes variegate porphyria.
|
27667166 |
2016 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively.
|
25445397 |
2015 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Defects in the human protoporphyrinogen oxidase (hPPO) gene, resulting in ~50% decreased activity of hPPO, is responsible for the dominantly inherited disorder variegate porphyria (VP).
|
23467411 |
2013 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous variegate porphyria presenting with developmental and language delay in childhood.
|
24073655 |
2013 |
Variegate Porphyria
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Supplementation with antioxidant vitamins increased PPOX expression in VP patients.
|
23601071 |
2013 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We have found that the probability of the privileged conformations of hPPO can be correlated very well with the k(cat)/K(m) of PPO (correlation coefficient, R(2) > 0.9), and the catalytic activity of 44 clinically reported VP-causing mutants can be accurately predicted.
|
23467411 |
2013 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We show that both deletions are mediated by Alu repeats.Our findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with VP.
|
23324528 |
2013 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The disease is inherited in an autosomal dominant fashion with incomplete penetrance and PPOX gene mutations associated with VP are usually unique to patients and their families.
|
21910705 |
2012 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
These results reinforce the importance of molecular genetic analysis for VP diagnosis and especially the usefulness of prokaryotic expression of missense mutations to assess their deleterious effect on PPOX activity.MM and BXG contributed equally to the publication.RES and MVR share senior authorship.
|
23430901 |
2012 |
Variegate Porphyria
|
0.900 |
Biomarker
|
disease |
BEFREE |
HCP and VP result from a partial enzymatic deficiency of coproporphyrinogen oxidase (CPOX) and protoporphyrinogen oxidase (PPOX), respectively.
|
21734717 |
2011 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Structural insight into human variegate porphyria disease.
|
21048046 |
2011 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
|
19320019 |
2009 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
|
19656457 |
2009 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina.
|
18570668 |
2008 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in ppox result in variegate porphyria.
|
18550261 |
2008 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina.
|
18570668 |
2008 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
|
18350656 |
2007 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Variegate porphyria (VP), also known as South African porphyria, is a low-penetrance, autosomal dominant disorder as the result of a partial deficiency of protoporphyrinogen oxidase (PPOX).
|
16947091 |
2006 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
However, we could not detect a mutation in the coding or the promotor region of the protoporphyrinogen oxidase gene that is mutated in variegate porphyria.
|
17298217 |
2006 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Using polymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the paternal allele and a frameshift mutation in exon 13 on the maternal allele of the protoporphyrinogen oxidase gene that harbours the mutations underlying VP.
|
16433813 |
2006 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Variegate porphyria is an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane.
|
16621625 |
2006 |
Variegate Porphyria
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
First, to establish the mutations of the protoporphyrinogen-oxidase (PPOX) gene in four Spanish patients with variegate porphyria (VP).
|
16922948 |
2006 |