(Q37693360)

22 August 2017

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria (English)

1 reference

22 August 2017

Arienne Mirmiran

7

0 references

Hana Manceau

Hana Manceau

2

0 references

Caroline Schmitt

Caroline Schmitt

6

0 references

Zoubida Karim

Zoubida Karim

5

0 references

Laurent Gouya

Laurent Gouya

18

0 references

Katell Peoc'h

Katell Peoc'h

8

0 references

Hervé Puy

Herve Puy

16

0 references

author name string

Vincent Oustric

1

1 reference

22 August 2017

Sarah Ducamp

3

1 reference

22 August 2017

Rima Soaid

4

1 reference

22 August 2017

Bernard Grandchamp

9

1 reference

22 August 2017

Carole Beaumont

10

1 reference

22 August 2017

Said Lyoumi

11

1 reference

22 August 2017

François Moreau-Gaudry

12

1 reference

22 August 2017

Véronique Guyonnet-Dupérat

13

1 reference

22 August 2017

Hubert de Verneuil

14

1 reference

22 August 2017

Joëlle Marie

15

1 reference

22 August 2017

Jean-Charles Deybach

17

1 reference

22 August 2017

language of work or name

English

0 references

publication date

27 March 2014

1 reference

American Journal of Human Genetics

22 August 2017

1 reference

22 August 2017

94

1 reference

22 August 2017

4

1 reference

22 August 2017

611-617

1 reference

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

An RNA alternative to human transferrin: a new tool for targeting human cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells by free uptake of antisense oligonucleotides.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Nuclear antisense effects of neutral, anionic and cationic oligonucleotide analogs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Erythropoietic protoporphyria. An overview with emphasis on the liver.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Targeting mRNA splicing as a potential treatment for Duchenne muscular dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Comparative study of DNA enzymes and ribozymes against the same full-length messenger RNA of the vanilloid receptor subtype I.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Receptor mediated uptake of peptides that bind the human transferrin receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3980518

Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model

1 September 2018

1 reference

12 December 2020

Correction of β654-thalassaemia mice using direct intravenous injection of siRNA and antisense RNA vectors

1 reference

12 December 2020

Efficient and persistent splice switching by systemically delivered LNA oligonucleotides in mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.AJHG.2014.02.010

Identifiers

DOI

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

24680888

1 reference