A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria-Reference-Cited by-同舟云学术

A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria

Published:2005-05 Issue:5 Volume:33 Page:584-591
ISSN:0301-472X
Container-title:Experimental Hematology
language:en
Short-container-title:Experimental Hematology

Author:

Di Pierro Elena,Cappellini Maria Domenica,Mazzucchelli Renata,Moriondo Valeria,Mologni Daniela,Poma Barbara Zanone,Riva Agostino

Publisher

Elsevier BV

Subject

Cancer Research,Cell Biology,Genetics,Hematology,Molecular Biology

Reference31 articles.

1. Study of factors causing excess protoporphyrin accumulation in cultured skin fibroblasts from patients with protoporphyria;Bloomer;J Clin Invest,1977

2. The porphyrias;Kappas,1995

3. Porphyrins, porphyrin metabolism and porphyries. IV. Pathophysiology of erythropoietic protoporphyria—diagnosis, care and monitoring of the patient;Thunell;Scand J Clin Lab Invest,2000

4. Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18;Taketani;Eur J Biochem,1992

5. A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene;Tugores;J Biol Chem,1994

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1. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

2. 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

3. Erythropoietic Protoporphyria in a Japanese Population;Acta Dermato Venereologica;2019

4. 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;2018-08

5. Developmental and Inherited Liver Disease;Macsween's Pathology of the Liver;2018