The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1-Reference-Cited by-同舟云学术

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The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1

Published:2016-10 Issue: Volume:61 Page:48-53
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Fiorentino Valeria,Brancaleoni Valentina,Granata Francesca,Graziadei Giovanna,Di Pierro Elena

Funder

Ministry of Health, Italy

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference23 articles.

1. The UCSC genome browser database: 2015 update;Rosenbloom;Nucleic Acids Res.,2015

2. Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme;Dailey;Protein Sci.,1996

3. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1;Taketani;Genomics,1995

4. Characterization of the mouse protoporphyrinogen oxidase gene;Dailey;Cell. Mol. Biol. (Noisy-le-Grand),2002

5. GATA-1 binding sites in exon 1 direct erythroid-specific transcription of PPOX;de Vooght;Gene,2008

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients;Frontiers in Physiology;2022-07-18

2. Two new mutations in the PPOX gene in a patient with variegate porphyria;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2020-04

3. 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;Genetics in Medicine;2020-01

4. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes;Molecular Genetics and Metabolism;2019-11

5. Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP);Molecular Genetics and Metabolism;2018-11

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