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Jean-Marc Blouin Selected Research

Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)

6/2021Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
11/2020Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.
1/2020Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
12/2019Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).
1/2019CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.
1/2018Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
1/2017Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
11/2013Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.

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Jean-Marc Blouin Research Topics

Disease

8Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
06/2021 - 11/2013
4Hemolytic Anemia
11/2020 - 11/2013
3Anemia
06/2021 - 12/2019
2Hemolysis
11/2020 - 12/2019
2Iron Overload
11/2020 - 12/2019
2Primary hyperoxaluria type 1
10/2019 - 01/2019
2Urolithiasis
10/2019 - 05/2017
2Renal Insufficiency (Renal Failure)
10/2019 - 05/2017
1Porphyrias (Porphyria)
01/2020
1Congenital Hemolytic Anemia (Hemolytic Anemia, Congenital)
12/2019
1Nephrocalcinosis
10/2019
1Chronic Kidney Failure (Chronic Renal Failure)
01/2019
1Renal Cell Carcinoma (Grawitz Tumor)
05/2017
1Hyperoxaluria (Oxaluria)
05/2017
1Hypoxia (Hypoxemia)
04/2016
1Inflammation (Inflammations)
04/2016
1Hyperplasia
01/2015
1Body Weight (Weight, Body)
08/2014
1Lactose Intolerance (Intolerance, Lactose)
08/2013
1Colonic Neoplasms (Colon Cancer)
06/2011
1Neoplasms (Cancer)
12/2010

Drug/Important Bio-Agent (IBA)

5PorphyrinsIBA
06/2021 - 11/2013
5Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
06/2021 - 11/2013
4Heme (Haem)IBA
06/2021 - 01/2017
3EnzymesIBA
10/2019 - 01/2018
2IronIBA
11/2020 - 12/2019
2OxalatesIBA
10/2019 - 01/2019
2Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA
10/2019 - 01/2019
2Calcium OxalateIBA
01/2019 - 05/2017
2Proteasome InhibitorsIBA
01/2017 - 11/2013
1Ferritins (Ferritin)IBA
06/2021
1DeferiproneIBA
11/2020
1RNA (Ribonucleic Acid)IBA
01/2020
1HepcidinsIBA
12/2019
11,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA
01/2019
1CalciumIBA
01/2019
1SaltsIBA
01/2019
1Ciclopirox (Loprox)FDA LinkGeneric
01/2018
1Pharmaceutical PreparationsIBA
01/2018
1Biological ProductsIBA
05/2017
1glycolic acid (glycolate)IBA
05/2017
1Proteasome Endopeptidase Complex (Proteasome)IBA
01/2017
1sodium bisulfide (NaHS)IBA
04/2016
1Sulfides (Thioethers)IBA
04/2016
1Nitric Oxide Synthase Type II (Inducible Nitric Oxide Synthase)IBA
04/2016
1Interleukin-6 (Interleukin 6)IBA
04/2016
1Proteins (Proteins, Gene)FDA Link
01/2015
1CytokinesIBA
01/2015
1Peroxidase (Myeloperoxidase)IBA
01/2015
1AcidsIBA
08/2013
1Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
06/2011
1Glucose (Dextrose)FDA LinkGeneric
06/2011
1Volatile Fatty AcidsIBA
06/2011
1Histone Deacetylases (Histone Deacetylase)IBA
06/2011
1Butyrates (Butyrate)IBA
06/2011
1Acetyl Coenzyme A (Acetyl-CoA)IBA
06/2011
1PhosphoenolpyruvateIBA
12/2010
1Docosahexaenoic AcidsIBA
12/2010
1Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA
12/2010
1Omega-3 Fatty Acids (Omega 3 Fatty Acids)IBA
12/2010

Therapy/Procedure

1Nephrectomy
05/2017
1High-Protein Diet
08/2014