Results 111 to 120 of about 601 (148)

Erythropoietic protoporphyria (EPP) at 40. Where are we now?

Photodermatology Photoimmunology and Photomedicine, 2002
Since Professor Magnus first defined erythropoietic protoporphyria (EPP) in 1961, there has been considerable progress in the understanding this disease. The past decade has been a period of spectacular progress in understanding the genetics and pathogenesis of the disease by molecular investigation. However, progress in therapy for EPP has been slower,
exaly   +3 more sources

Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism [PDF]

Genetics in Medicine, 2020
Existing data do not explain the reason why some individuals homozygous for the hypomorphic FECH allele develop erythropoietic protoporphyria (EPP) while the majority are completely asymptomatic. This study aims to identify novel possible genetic variants contributing to this variable phenotype.High-throughput resequencing of the FECH gene, qualitative
Valentina Bollati, Francesca Granata, Elena Di Pierro   +2 more
exaly   +3 more sources

Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients

Immunologic Research, 2019
Phototoxic reaction is a known feature of EPP at least in part triggered by the oxidative status, complement system activation, and mast cell response. The aim of this study was to verify some aspects involved in phototoxic reaction during a season. The complement system was evaluated by C3 assay, alternative pathway by factor-B, and classical pathway ...
Francesca, Granata, Lorena, Duca, Giovanna, Graziadei, Valentina, Brancaleoni, Pasquale, Missineo, Giacomo, De Luca, Silvia, Fustinoni, Elena, Di Pierro   +7 more
openaire   +2 more sources

Four Novel Mutations in the Ferrochelatase (FECH) Gene in Patients with Erythropoietic Protoporphyria (EPP).

Blood, 2007
Abstract Erythropoietic protoporphyria (EPP) is an autosomal dominant disease with incomplete penetrance, due to reduced activity of ferrochelatase (FECH), a mitochondrial enzyme that catalyzes the insertion of iron in the protoporphyrin molecule in the final step of the heme biosynthetic pathway.
E. Di Pierro, V. Brancaleoni, V. Besana, S. Ausenda, M. Care, M.D. Cappellini   +5 more
openaire   +2 more sources

Two Functional Mutations in cis of the Ferrochelatase Gene (FECH) Cause Erythropoietic Protoporphyria (EPP).

Blood, 2005
Abstract Erythropoietic protoporphyria is an autosomal dominant disease with incomplete penetrance, due to reduced activity of ferrochelatase (FECH), a mitochondrial enzyme that catalyzes the final step of the heme biosynthetic pathway.
E. Di Pierro, V. Brancaleoni, V. Moriondo, M.D. Cappellini   +3 more
openaire   +2 more sources

The EPP LIGHT Study: A Survey Describing the Burden of Erythropoietic Protoporphyria and X-Linked Protoporphyria

Blood
Background: Erythropoietic protoporphyria and X-linked protoporphyria (collectively referred to as EPP) are rare, genetic disorders of the heme biosynthetic pathway, leading to accumulation of the photoactive metabolite protoporphyrin IX (PPIX).
Hetanshi Naik, Manisha Balwani, Hilary H Colwell, Susan D Mathias, Kristen Wheeden, Chelsea Norregaard, Melanie Chin, William Savage   +7 more
openaire   +1 more source

Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)

Molecular Genetics and Metabolism, 2018
Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3.
Valentina Brancaleoni, Francesca Granata, Pasquale Missineo, Silvia Fustinoni, Giovanna Graziadei, Elena Di Pierro   +5 more
openaire   +2 more sources

Inhibition of Glycine Transporter 1 Reduces Phototoxicity in a Mouse Model of Erythropoietic Protoporphyria (EPP)

Blood
Erythropoietic protoporphyria (EPP) is a genetic disorder typically caused by reduced activity of ferrochelatase (FECH), the enzyme that catalyzes the final step in heme biosynthesis. EPP phototoxicity occurs when the photosensitive metal-free protoporphyrin IX (PPIX) in erythrocytes and skin is exposed to ...
Yi Xiang, Min Wu, Yue Chen, Scott A Reisman, Srikanth Venkatraman, Hua Yang, Brian MacDonald   +6 more
openaire   +1 more source

Expression of the Gene Defects of Acute Intermittent Porphyria (AIP) and Erythropoietic Protoporphyria (EPP) in Mitogen-Stimulated Lymphocytes

1978
Deficiency of uroporphyrinogen-I synthetase (uro-S) activity by 50% in liver cells (9), erythrocytes (3, 4), cultured skin fibroblasts (7), and amniotic cells (7) reflects the primary gene defect of AIP, and accounts for the excessive urinary excretion of porphobilinogen and 6-aminolevulinic acid (ALA). The decreased activity of ferrochelatase found in
S. Sassa, G. L. Zalar, A. Kappas
openaire   +1 more source

The Burden of Erythropoietic Protoporphyria ( EPP ): Results From the EPP Life Impact and Genetic Health Trajectory ( LIGHT ) Study

The Journal of Dermatology
ABSTRACT Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) are rare metabolic disorders causing phototoxicity, potential liver damage, and significant burden in all facets of life. We sought to quantify symptoms, health‐related quality of life (HRQoL), work/school productivity, and healthcare utilization (HCU) of ...
Hetanshi Naik, Manisha Balwani, Hilary H. Colwell, Susan D. Mathias, Kristen Wheeden, Chelsea Norregaard, Melanie Chin, William Savage   +7 more
openaire   +2 more sources