Literature DB >> 21132468

The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.

Tsuyoshi Tahara, Masayoshi Yamamoto, Reiko Akagi, Hideo Harigae, Shigeru Taketani.   

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Year:  2010        PMID： 21132468     DOI： 10.1007/s12185-010-0725-3

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


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  9 in total

1.  Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.

Authors:  Hajime Nakano; Aoi Nakano; Yuka Toyomaki; Shigeki Ohashi; Ken Harada; Ryuta Moritsugu; Hitoshi Takeda; Akira Kawada; Yoshihiko Mitsuhashi; Katsumi Hanada
Journal:  J Invest Dermatol       Date:  2006-06-22       Impact factor: 8.551

2.  The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.

Authors:  Laurent Gouya; Herve Puy; Anne-Marie Robreau; Monique Bourgeois; Jerôme Lamoril; Vasco Da Silva; Bernard Grandchamp; Jean-Charles Deybach
Journal:  Nat Genet       Date:  2001-12-20       Impact factor: 38.330

3.  Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18.

Authors:  S Taketani; J Inazawa; Y Nakahashi; T Abe; R Tokunaga
Journal:  Eur J Biochem       Date:  1992-04-01

4.  Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Authors:  Laurent Gouya; Caroline Martin-Schmitt; Anne-Marie Robreau; Frederic Austerlitz; Vasco Da Silva; Patrick Brun; Sylvie Simonin; Said Lyoumi; Bernard Grandchamp; Carole Beaumont; Herve Puy; Jean-Charles Deybach
Journal:  Am J Hum Genet       Date:  2005-11-15       Impact factor: 11.025

5.  Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

Authors:  L Gouya; H Puy; J Lamoril; V Da Silva; B Grandchamp; Y Nordmann; J C Deybach
Journal:  Blood       Date:  1999-03-15       Impact factor: 22.113

Review 6.  The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria.

Authors:  S Taketani; H Fujita
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

7.  A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters.

Authors:  Nili Schoenfeld; Rivka Mamet; Elisabeth I Minder; Xiaoye Schneider-Yin
Journal:  Blood Cells Mol Dis       Date:  2003 May-Jun       Impact factor: 3.039

Review 8.  The molecular genetics of erythropoietic protoporphyria.

Authors:  G H Elder; L Gouya; S D Whatley; H Puy; M N Badminton; J-C Deybach
Journal:  Cell Mol Biol (Noisy-le-grand)       Date:  2009-07-01       Impact factor: 1.770

9.  Recessive inheritance of erythropoietic protoporphyria with liver failure.

Authors:  R P Sarkany; G J Alexander; T M Cox
Journal:  Lancet       Date:  1994-06-04       Impact factor: 79.321
  9 in total
  1 in total

1.  Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.

Authors:  Vincent Oustric; Hana Manceau; Sarah Ducamp; Rima Soaid; Zoubida Karim; Caroline Schmitt; Arienne Mirmiran; Katell Peoc'h; Bernard Grandchamp; Carole Beaumont; Said Lyoumi; François Moreau-Gaudry; Véronique Guyonnet-Dupérat; Hubert de Verneuil; Joëlle Marie; Herve Puy; Jean-Charles Deybach; Laurent Gouya
Journal:  Am J Hum Genet       Date:  2014-03-27       Impact factor: 11.025
  1 in total

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