Search Results - "de Verneuil, H."

Effect of tyrosine kinase inhibitors on stemness in normal and chronic myeloid leukemia cells by Charaf, L, Mahon, F-X, Lamrissi-Garcia, I, Moranvillier, I, Beliveau, F, Cardinaud, B, Dabernat, S, de Verneuil, H, Moreau-Gaudry, F, Bedel, A

“…Although tyrosine kinase inhibitors (TKIs) efficiently cure chronic myeloid leukemia (CML), they can fail to eradicate CML stem cells (CML-SCs). The mechanisms…”
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Identification of a novel alpha1-antitrypsin variant by de Seynes, Camille, Ged, C, de Verneuil, H, Chollet, N, Balduyck, M, Raherison, C

“…Abstract Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity…”
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Acquired erythropoietic uroporphyria and myelodysplastic syndrome cured by bone marrow transplantation by Verneuil, H.

“…Linked Article: Podlipnik et al. Br J Dermatol 2018; 179:486–490…”
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Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis by Rezvani, H R, Ged, C, Bouadjar, B, de Verneuil, H, Taïeb, A

“…Xeroderma pigmentosum type C (XPC) is a rare autosomal recessive disorder that occurs due to inactivation of the XPC protein, an important DNA damage…”
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Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection by RICHARD, E, ROBERT, E, CARIO-ANDRE, M, GED, C, GERONIMI, F, GERSON, S. L, DE VERNEUIL, H, MOREAU-GAUDRY, F

“…Erythropoietic protoporphyria (EPP) is an inherited defect of the ferrochelatase (FECH) gene characterized by the accumulation of toxic protoporphyrin in the…”
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Spatial and temporal control of transgene expression in vivo using a heat-sensitive promoter and MRI-guided focused ultrasound by Guilhon, E., Voisin, P., de Zwart, J. A., Quesson, B., Salomir, R., Maurange, C., Bouchaud, V., Smirnov, P., de Verneuil, H., Vekris, A., Canioni, P., Moonen, C. T. W.

“…Background Among the techniques used to induce and control gene expression, a non‐invasive, physical approach based on local heat in combination with a…”
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A knock-in mouse model of congenital erythropoietic porphyria by Ged, C., Mendez, M., Robert, E., Lalanne, M., Lamrissi-Garcia, I., Costet, P., Daniel, J.Y., Dubus, P., Mazurier, F., Moreau-Gaudry, F., de Verneuil, H.

“…Congenital erythropoietic porphyria (CEP) is a recessive autosomal disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth…”
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Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients by Callebaut, Isabelle, Joubrel, Rozenn, Pissard, Serge, Kannengiesser, Caroline, Gérolami, Victoria, Ged, Cécile, Cadet, Estelle, Cartault, François, Ka, Chandran, Gourlaouen, Isabelle, Gourhant, Lénaick, Oudin, Claire, Goossens, Michel, Grandchamp, Bernard, De Verneuil, Hubert, Rochette, Jacques, Férec, Claude, Le Gac, Gérald

“…Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron…”
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Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population by Ezzedine, K., Droitcourt, C., Ged, C., Diallo, A., Hubiche, T., de Verneuil, H., Boralevi, F., Taïeb, A.

“…Summary Background  Loss of function FLG alleles were first identified as causative of ichthyosis vulgaris (IV) and were subsequently found to be major…”
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Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells by FONTANELLAS, A, MENDEZ, M, ENRIQUEZ DE SALAMANCA, R, DE VERNEUIL, H, MAZURIER, F, CARIO-ANDRE, M, NAVARRO, S, GED, C, TAINE, L, GERONIMI, F, RICHARD, E, MOREAU-GAUDRY, F

“…Erythropoietic protoporphyria is characterized clinically by skin photosensitivity and biochemically by a ferrochelatase deficiency resulting in an excessive…”
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Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort by HUBICHE, Thomas, GED, Cécile, BENARD, Antoine, LEAUTE-LABREZE, Christine, MCELREAVEY, Ken, DE VERNEUIL, Hubert, TAÏEB, Alain, BORALEVI, Franck

“…The role of a genetically impaired epidermal barrier as a major predisposing factor in the pathogenesis of atopic disorders is currently under closer…”
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807: Combined treatment of pancreatic tumour cells with bioactive food components reduces tumour growth and potentiates gemcitabine toxicity in a preclinical mouse model by Dabernat, S, Peuchant, E, Moranvillier, I, Rousseau, B, Bedel, A, Beliveau, F, De Verneuil, H, Moreau-Gaudry, F

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Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype by Ged, C, Moreau-Gaudry, F, Richard, E, Robert-Richard, E, de Verneuil, H

“…High quality genotype/phenotype analysis is a difficult issue in rare genetic diseases such as congenital erythropoietic porphyria (CEP) or Günther's disease,…”
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Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients by Farrag, M S, Mikula, I, Richard, E, Saudek, V, De Verneuil, H, Martásek, P

“…Porphyrias are metabolic disorders resulting from mutations in haem biosynthetic pathway genes. Hepatoerythropoietic porphyria (HEP) is a rare type of…”
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A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases by Katugampola, R.P., Anstey, A.V., Finlay, A.Y., Whatley, S., Woolf, J., Mason, N., Deybach, J.C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X., Badminton, M.N.

“…Summary Background  Congenital erythropoietic porphyria (CEP) is an autosomal recessive photomutilating porphyria with onset usually in childhood, where…”
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Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases by Katugampola, R.P., Badminton, M.N., Finlay, A.Y., Whatley, S., Woolf, J., Mason, N., Deybach, J.C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X., Anstey, A.V.

“…Summary Background  Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen…”
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Rapid analysis and efficient selection of human transduced primitive hematopoietic cells using the humanized S65T green fluorescent protein by MAZURIER, F, MOREAU-GAUDRY, F, DE VERNEUIL, H, MAGUER-SATTA, V, SALESSE, S, PIGEONNIER-LAGARDE, V, GED, C, BELLOC, F, LACOMBE, F, MAHON, F. X, REIFFERS, J

“…We have developed an efficient and rapid method to analyze transduction in human hematopoietic cells and to select them. We constructed two retroviral vectors…”
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Image-guided Control of Transgene Expression Based on Local Hyperthermia by Guilhon, E., Quesson, B., Moraud-Gaudry, F., de Verneuil, H., Canioni, P., Salomir, R., Voisin, P., Moonen, C. T. W.

“…Spatial and temporal control of transgene expression is one of the major prerequisites of efficient gene therapy. Recently, a noninvasive, physical approach…”
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Proteasome inhibitIon specifically sensitizes leukemic cells to anthracyclin-induced apoptosis through the accumulation of Bim and Bax pro-apoptotic proteins by Pigneux, A., Mahon, F.X., Moreau-Gaudry, F., Uhalde, M., de Verneuil, H., Lacombe, F., Reiffers, J., Milpied, N., Praloran, V., Belloc, F.

“…Proteasome inhibitors are a novel class of compounds that might increase sensitivity to chemotherapy for acute myeloid leukemia (AML). We quantified apoptosis…”
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Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft by Lebreuilly-Sohyer, I, Morice, A, Acher, A, Dompmartin, A, Clement, C, de Verneuil, H, Ged, C, Leroy, D, Verneuil, L

“…Congenital erythropoietic porphyria (CEP) is a genodermatosis associated uroporphyrinogen III synthase deficit that results in porphyrin accumulation in…”
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