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Cécile Ged Selected Research

Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)

1/2024Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
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.
1/2020Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.
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.
1/2017Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
1/2017Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.
11/2013Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
7/2012Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.
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Cécile Ged Research Topics

Disease

15Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
01/2024 - 02/2005
6Hemolytic Anemia
11/2020 - 07/2012
5Anemia
11/2022 - 01/2017
5Iron Overload
11/2020 - 05/2012
4Porphyrias (Porphyria)
01/2024 - 07/2002
4Hemolysis
11/2020 - 01/2017
2Xeroderma Pigmentosum (Kaposi's Disease)
01/2022 - 01/2020
2Liver Failure
01/2020 - 06/2008
2Colorectal Neoplasms (Colorectal Cancer)
06/2015 - 06/2014
1Cardiovascular Diseases (Cardiovascular Disease)
05/2022
1Coronary Artery Disease (Coronary Atherosclerosis)
05/2022
1Hypercholesterolemia
05/2022
1Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
05/2022
1Inborn Genetic Diseases (Disease, Hereditary)
05/2022
1Squamous Cell Carcinoma (Epidermoid Carcinoma)
01/2022
1Rare Diseases (Rare Disease)
01/2020
1Fibrosis (Cirrhosis)
01/2020
1Liver Diseases (Liver Disease)
01/2020
1Congenital Hemolytic Anemia (Hemolytic Anemia, Congenital)
12/2019
1DNA Repair-Deficiency Disorders (Chromosome Instability Syndromes)
01/2019
1Hyperferritinemia
11/2018
1Hematologic Diseases (Blood Diseases)
01/2017
1Homocystinuria
01/2015
1Thrombophilia
01/2015
1type 4 Hemochromatosis
09/2014
1Neoplasms (Cancer)
06/2014
1Hemochromatosis (Bronze Diabetes)
05/2012
1Inflammation (Inflammations)
12/2011
1Atrophy
12/2011
1Ichthyosis Vulgaris (Dominant Ichthyosis Vulgaris)
01/2007
1Infections
01/2007
1Asthma (Bronchial Asthma)
01/2007
1Atopic Dermatitis (Atopic Eczema)
01/2007
1Erythropoietic Protoporphyria
09/2003
1Hepatitis
01/2003
1Porphyria Cutanea Tarda
07/2002
1Hepatoerythropoietic Porphyria
07/2002

Drug/Important Bio-Agent (IBA)

10Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
01/2024 - 01/2008
9Heme (Haem)IBA
01/2024 - 09/2003
9PorphyrinsIBA
06/2021 - 07/2002
7EnzymesIBA
01/2024 - 09/2003
4IronIBA
11/2020 - 09/2014
2Hemoglobins (Hemoglobin)IBA
11/2022 - 01/2017
2HepcidinsIBA
12/2019 - 01/2017
21,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA
01/2019 - 01/2019
2Transferrin (beta 2 Transferrin)IBA
11/2018 - 05/2012
2Proteasome InhibitorsIBA
01/2017 - 11/2013
2Irinotecan (Camptosar)FDA LinkGeneric
06/2015 - 06/2014
1hemoglobin AgrinioIBA
11/2022
1oxidized low density lipoproteinIBA
05/2022
1LDL CholesterolIBA
05/2022
1pembrolizumabIBA
01/2022
1Ferritins (Ferritin)IBA
06/2021
1DeferiproneIBA
11/2020
1Proteins (Proteins, Gene)FDA Link
01/2020
1Transaminases (Aminotransferases)IBA
01/2020
1HemopexinIBA
01/2017
1HaptoglobinsIBA
01/2017
1Messenger RNA (mRNA)IBA
01/2017
1Heme Oxygenase-1IBA
01/2017
1L-Lactate Dehydrogenase (Lactate Dehydrogenase)IBA
01/2017
1Proteasome Endopeptidase Complex (Proteasome)IBA
01/2017
1CystathionineIBA
01/2015
1metal transporting protein 1 (ferroportin)IBA
09/2014
1Carrier Proteins (Binding Protein)IBA
09/2014
1Cytotoxins (Cytolysins)IBA
06/2014
1IntegrinsIBA
12/2011
1Immunoglobulin E (IgE)IBA
01/2007
1Phosphoglycerate Kinase (Kinase, Phosphoglycerate)IBA
01/2007
1Alkylating AgentsIBA
01/2007
1Filaggrin ProteinsIBA
01/2007
1protoporphyrin IXIBA
09/2003
1Ferrochelatase (Heme Synthetase)IBA
09/2003
1Peptide Elongation Factors (Elongation Factor)IBA
01/2003
1ElementsIBA
01/2003
1enhanced green fluorescent proteinIBA
01/2003
1Glutamic Acid (Glutamate)FDA Link
07/2002
1Glycine (Aminoacetic Acid)FDA LinkGeneric
07/2002
1Codon (Codons)IBA
07/2002

Therapy/Procedure

4Therapeutics
06/2015 - 02/2005
3Bone Marrow Transplantation (Transplantation, Bone Marrow)
01/2020 - 02/2005
1Liver Transplantation
06/2008
1Stem Cell Transplantation
02/2005