Erythropoietic protoporphyria

Por Lecha, Mario, Puy, Hervé, Deybach, Jean-Charles
Publicado em 2009

Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyr...

Por Lamoril, Jérôme, Puy, Hervé, Whatley, Sharon D., Martin, Caroline, Woolf, Jacqueline R., Da Silva, Vasco, Deybach, Jean-Charles, Elder, George H.
Publicado em 2001

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type...

Por Whatley, Sharon D., Puy, Hervé, Morgan, Rhian R., Robreau, Anne-Marie, Roberts, Andrew G., Nordmann, Yves, Elder, George H., Deybach, Jean-Charles
Publicado em 1999

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt Conformational Equilibrium and Enhance Product Release(†)

Por Fratz, Erica J., Clayton, Jerome, Hunter, Gregory A., Ducamp, Sarah, Breydo, Leonid, Uversky, Vladimir N., Deybach, Jean-Charles, Gouya, Laurent, Puy, Hervé, Ferreira, Gloria C.
Publicado no Biochemistry (2015)

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Por Gouya, Laurent, Martin-Schmitt, Caroline, Robreau, Anne-Marie, Austerlitz, Frédéric, Silva, Vasco Da, Brun, Patrick, Simonin, Sylvie, Lyoumi, Saïd, Grandchamp, Bernard, Beaumont, Carole, Puy, Hervé, Deybach, Jean-Charles
Publicado em 2006

Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior

Por Saison, Carole, Helias, Virginie, Ballif, Bryan A., Peyrard, Thierry, Puy, Hervé, Miyazaki, Toru, Perrot, Sébastien, Vayssier-Taussat, Muriel, Waldner, Mauro, Pennec, Pierre-Yves Le, Cartron, Jean-Pierre, Arnaud, Lionel
Publicado em 2012

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model

Por Millot, Sarah, Delaby, Constance, Moulouel, Boualem, Lefebvre, Thibaud, Pilard, Nathalie, Ducrot, Nicolas, Ged, Cécile, Lettéron, Philippe, de Franceschi, Lucia, Deybach, Jean Charles, Beaumont, Carole, Gouya, Laurent, De Verneuil, Hubert, Lyoumi, Saïd, Puy, Hervé, Karim, Zoubida
Publicado no Haematologica (2017)

Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli

Por Houamel, Dounia, Ducrot, Nicolas, Lefebvre, Thibaud, Daher, Raed, Moulouel, Boualem, Sari, Marie-Agnes, Letteron, Philippe, Lyoumi, Said, Millot, Sarah, Tourret, Jerome, Bouvet, Odile, Vaulont, Sophie, Vandewalle, Alain, Denamur, Erick, Puy, Hervé, Beaumont, Carole, Gouya, Laurent, Karim, Zoubida
Publicado no J Am Soc Nephrol (2016)

The human porphyrin transporter ABCB6 is dispensable for erythropoiesis but responsible for the new blood group system Langereis

Por Helias, Virginie, Saison, Carole, Ballif, Bryan A., Peyrard, Thierry, Takahashi, Junko, Takahashi, Hideo, Tanaka, Mitsunobu, Deybach, Jean-Charles, Puy, Hervé, Le Gall, Maude, Sureau, Camille, Pham, Bach-Nga, Le Pennec, Pierre-Yves, Tani, Yoshihiko, Cartron, Jean-Pierre, Arnaud, Lionel
Publicado em 2012

Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria

Por Oustric, Vincent, Manceau, Hana, Ducamp, Sarah, Soaid, Rima, Karim, Zoubida, Schmitt, Caroline, Mirmiran, Arienne, Peoc’h, Katell, Grandchamp, Bernard, Beaumont, Carole, Lyoumi, Said, Moreau-Gaudry, François, Guyonnet-Dupérat, Véronique, de Verneuil, Hubert, Marie, Joëlle, Puy, Herve, Deybach, Jean-Charles, Gouya, Laurent
Publicado em 2014

Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites

Por Smith, Clare M., Jerkovic, Ante, Puy, Hervé, Winship, Ingrid, Deybach, Jean-Charles, Gouya, Laurent, van Dooren, Giel, Goodman, Christopher Dean, Sturm, Angelika, Manceau, Hana, McFadden, Geoffrey Ian, David, Peter, Mercereau-Puijalon, Odile, Burgio, Gaétan, McMorran, Brendan J., Foote, Simon J.
Publicado no Blood (2015)

Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome

Por de Montalembert, Mariane, Ribeil, Jean-Antoine, Brousse, Valentine, Guerci-Bresler, Agnes, Stamatoullas, Aspasia, Vannier, Jean-Pierre, Dumesnil, Cécile, Lahary, Agnès, Touati, Mohamed, Bouabdallah, Krimo, Cavazzana, Marina, Chauzit, Emmanuelle, Baptiste, Amandine, Lefebvre, Thibaud, Puy, Hervé, Elie, Caroline, Karim, Zoubida, Ernst, Olivier, Rose, Christian
Publicado no PLoS One (2017)

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Por Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael N., Elder, George H., Holme, S. Alexander, Anstey, Alexander V., Parker, Michelle, Corrigall, Anne V., Meissner, Peter N., Hift, Richard J., Marsden, Joanne T., Ma, Yun, Mieli-Vergani, Giorgina, Deybach, Jean-Charles, Puy, Hervé
Publicado em 2008