Disease on EC 1.3.3.4 - protoporphyrinogen oxidase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
Adenocarcinoma
Protoporphyrinogen oxidase is involved in the fluorescence intensity of 5-aminolevulinic acid-mediated laser-based photodynamic endoscopic diagnosis for early gastric cancer.
Anemia
The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
Carcinogenesis
?-catenin Mutations Are Not Involved in Early-stage Hepatocarcinogenesis Induced by Protoporphyrinogen Oxidase Inhibitors in Mice.
Carcinoma
Protoporphyrinogen oxidase is involved in the fluorescence intensity of 5-aminolevulinic acid-mediated laser-based photodynamic endoscopic diagnosis for early gastric cancer.
Carcinoma, Hepatocellular
Hepatocellular carcinoma in variegate porphyria: a serious complication.
Colonic Neoplasms
Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.
Congenital Abnormalities
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
Coproporphyria, Hereditary
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Coproporphyria, Hereditary
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Coproporphyria, Hereditary
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Coproporphyria, Hereditary
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Dehydration
Stress effects of flumioxazin herbicide on grapevine ( Vitis vinifera L.) grown in vitro.
Genetic Diseases, Inborn
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Glioblastoma
Protoporphyrin IX fluorescence kinetics in C6 glioblastoma cells after delta-aminolevulinic acid incubation: effect of a protoporphyrinogen oxidase inhibitor.
Glioma
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Heart Septal Defects, Ventricular
Different effects of an N-phenylimide herbicide on heme biosynthesis between human and rat erythroid cells.
Heart Septal Defects, Ventricular
Histological changes in rat embryonic blood cells as a possible mechanism for ventricular septal defects produced by an N-phenylimide herbicide.
Heart Septal Defects, Ventricular
Mechanism of Developmental Effects in Rats Caused by an N-Phenylimide Herbicide: Transient Fetal Anemia and Sequelae during Mid-to-Late Gestation.
hydroxymethylbilane synthase deficiency
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Leukemia, Erythroblastic, Acute
Cloning, sequence, and expression of mouse protoporphyrinogen oxidase.
Liver Diseases, Alcoholic
Coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase activities in human liver biopsies with special reference to alcoholic liver disease.
Liver Neoplasms
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Metabolic Diseases
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
Neoplasms
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Neoplasms
Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.
Neoplasms
Involvement of Mouse Constitutive Androstane Receptor in Acifluorfen-Induced Liver Injury and Subsequent Tumor Development.
Neoplasms
Systems biology analysis of hepatitis C virus infection reveals the role of copy number increases in regions of chromosome 1q in hepatocellular carcinoma metabolism.
Porphyria, Acute Intermittent
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Porphyria, Acute Intermittent
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Porphyria, Acute Intermittent
Chester porphyria: biochemical studies of a new form of acute porphyria.
Porphyria, Acute Intermittent
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Porphyria, Acute Intermittent
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.
Porphyria, Acute Intermittent
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Porphyria, Acute Intermittent
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyria, Acute Intermittent
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Porphyria, Acute Intermittent
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Porphyria, Acute Intermittent
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Porphyria, Variegate
A case of association between hepatocellular carcinoma and porphyria variegata.
Porphyria, Variegate
A Case Report of Porphyria Variegata Management in the Emergency Department.
Porphyria, Variegate
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Porphyria, Variegate
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
Porphyria, Variegate
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
Porphyria, Variegate
Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
Porphyria, Variegate
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Porphyria, Variegate
Chester porphyria: biochemical studies of a new form of acute porphyria.
Porphyria, Variegate
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
Porphyria, Variegate
Cloning and characterization of the yeast HEM14 gene coding for protoporphyrinogen oxidase, the molecular target of diphenyl ether-type herbicides.
Porphyria, Variegate
Coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase activities in human liver biopsies with special reference to alcoholic liver disease.
Porphyria, Variegate
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Porphyria, Variegate
Effect of tiagabine and topiramate on porphyrin metabolism in an in vivo model of porphyria.
Porphyria, Variegate
Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients.
Porphyria, Variegate
Enzyme defects in the porphyrias and their relevance to the biochemical abnormalities in these disorders.
Porphyria, Variegate
Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
Porphyria, Variegate
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
Porphyria, Variegate
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.
Porphyria, Variegate
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
Porphyria, Variegate
Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
Porphyria, Variegate
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Porphyria, Variegate
Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria.
Porphyria, Variegate
Hepatocellular carcinoma in variegate porphyria: a case report and literature review.
Porphyria, Variegate
Hepatocellular carcinoma in variegate porphyria: a serious complication.
Porphyria, Variegate
Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.
Porphyria, Variegate
Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
Porphyria, Variegate
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
Porphyria, Variegate
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
Porphyria, Variegate
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Porphyria, Variegate
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Porphyria, Variegate
Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
Porphyria, Variegate
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
Porphyria, Variegate
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyria, Variegate
Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.
Porphyria, Variegate
King George III and porphyria: an elemental hypothesis and investigation.
Porphyria, Variegate
Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.
Porphyria, Variegate
Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families.
Porphyria, Variegate
Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
Porphyria, Variegate
Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Porphyria, Variegate
mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks.
Porphyria, Variegate
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Porphyria, Variegate
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Porphyria, Variegate
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
Porphyria, Variegate
Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.
Porphyria, Variegate
Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Porphyria, Variegate
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
Porphyria, Variegate
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.
Porphyria, Variegate
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
Porphyria, Variegate
Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.
Porphyria, Variegate
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases.
Porphyria, Variegate
Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria.
Porphyria, Variegate
Protoporphyrinogen oxidase in porphyria variegata. A report of the findings in 7 families.
Porphyria, Variegate
Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
Porphyria, Variegate
Quantitative Structural Insight into Human Variegate Porphyria Disease.
Porphyria, Variegate
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
Porphyria, Variegate
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Porphyria, Variegate
Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
Porphyria, Variegate
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
Porphyria, Variegate
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
Porphyria, Variegate
The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts.
Porphyria, Variegate
The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Porphyria, Variegate
Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
Porphyria, Variegate
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.
Porphyria, Variegate
Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
Porphyria, Variegate
Two new mutations in the PPOX gene in a patient with variegate porphyria.
Porphyria, Variegate
Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.
Porphyria, Variegate
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease.
Porphyria, Variegate
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
Porphyria, Variegate
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Porphyria, Variegate
Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.
Porphyria, Variegate
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
Porphyria, Variegate
[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile]
Porphyria, Variegate
[Solarium-induced pseudoporphyria and variegate porphyria as rare differential diagnoses of porphyria cutanea tarda]
Porphyrias
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Porphyrias
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Porphyrias
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Porphyrias
Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
Porphyrias
Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria.
Porphyrias
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.
Porphyrias
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.
Porphyrias
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyrias
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Porphyrias
Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Porphyrias
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
Porphyrias
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Porphyrias
The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
Porphyrias, Hepatic
A Case Report of Porphyria Variegata Management in the Emergency Department.
Porphyrias, Hepatic
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Porphyrias, Hepatic
Hepatocellular carcinoma in variegate porphyria: a serious complication.
Porphyrias, Hepatic
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Porphyrias, Hepatic
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyrias, Hepatic
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Porphyrias, Hepatic
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Porphyrias, Hepatic
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
Porphyrias, Hepatic
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
Porphyrias, Hepatic
The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Porphyrias, Hepatic
Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.
Protoporphyria, Erythropoietic
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases.
protoporphyrinogen oxidase deficiency
Cloning and characterization of the yeast HEM14 gene coding for protoporphyrinogen oxidase, the molecular target of diphenyl ether-type herbicides.
protoporphyrinogen oxidase deficiency
Molecular characterization of homozygous variegate porphyria.
Skin Diseases
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease.
Stomach Neoplasms
Protoporphyrinogen oxidase is involved in the fluorescence intensity of 5-aminolevulinic acid-mediated laser-based photodynamic endoscopic diagnosis for early gastric cancer.
html completed