Browsing by Author "Kannengiesser, Caroline"

Now showing items 1-4 of 4

    • A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria 

      Ducamp, Sarah; Luscieti, Sara; Ferrer-Cortès, Xènia; Nicolas, Gaël; Manceau, Hana; Peoc'h, Katell; Yien, Yvette Y.; Kannengiesser, Caroline; Gouya, Laurent; Puy, Herve; Sanchez, Mayka (Haematologica, 2021)
      Porphyrias are a group of eight genetically distinct disorders, each resulting from a partial deficiency or gain-offunction of a specific enzyme in the heme biosynthetic pathway.1 Porphyrias are inherited ...

    • Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype–phenotype studies 

      De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka (Human Mutation, 2014)
      Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the ...

    • Iron refractory iron deficiency anemia 

      De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U.; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole (Haematologica, 2013)
      Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6In vitro gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an ...

    • Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia 

      Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; Moran, Erica; Fuster Soler, Jose L.; Maloum, Karim; Matthes, Thomas; Oudot, Caroline; Lascaux, Axelle; Pondarré, Corinne; Sevilla Navarro, Julian; Vidyatilake, Sudharma; Beaumont, Carole; Grandchamp, Bernard; May, Alison (Haematologica, 2011)
      Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a ...