PHYSIOPATHOLOGY OF HEREDITARY XEROCYTOSIS: PIEZO1 GAIN OF FUNCTION MUTATIONS IMPACT HEMOGLOBIN OXYGEN AFFINITY

Hereditary Xerocytosis: Differential Behavior of PIEZO1 Mutations in the N-Terminal Extracellular Domain Between Red Blood Cells and HEK Cells

Yamaguchi, Yohei
Allegrini, Benoit
Rapetti-Mauss, Raphaël
Picard, Veronique
Garçon, Loïc
Kohl, Peter
Soriani, Olivier
Peyronnet, Rémi
Guizouarn, Hélène

January 2021

International audienceHereditary Xerocytosis, a rare hemolytic anemia, is due to gain of function mu...

Red blood cell proteomics reveal remnant protein biosynthesis and folding pathways in PIEZO1-related hereditary xerocytosis

Caulier, Alexis
Jankovsky, Nicolas
Gautier, Emilie Fleur
El Nemer, Wassim
Guitton, Corinne
Ouled-Haddou, Hakim
Guillonneau, François
Mayeux, Patrick
Salnot, Virginie
Bruce, Johanna
Picard, Véronique
Garçon, Loïc

December 2022

International audienceHereditary xerocytosis is a dominant red cell membrane disorder characterized ...

HEREDITARY XEROCYTOSIS: CLINICAL AND BIOLOGICAL PRESENTATION AT DIAGNOSIS IN A RETROSPECTIVE SERIES OF 103 PATIENTS

Picard, V.
Guitton, C.
Lahary, A.
Martinez, P. Aguilar
Ruivard, M.
Rose, C.
Perrin, J.
Barro, C.
Lifermann, F.
Jaureguiberry, J. -P., De
Deconinck, E.
Beneteau, C.
Lefebvre, T.
Toutain, F.
Le Coz, M. -F.
Berger, C.
Proulle, V.
Beris, P.
Godeau, B.
Very, C.
Garcon, Loic

January 2017

22nd Congress of the European-Hematology-Association, Madrid, SPAIN, JUN 22-25, 2017International au...

PHYSIOPATHOLOGY OF HEREDITARY XEROCYTOSIS: PIEZO1 GAIN OF FUNCTION MUTATIONS IMPACT HEMOGLOBIN OXYGEN AFFINITY

Kiger, L.
Guitton, C.
Ghazal, K.
Feneant-Thibault, M.
Bendelac, L.
Galacteros, F.
Proulle, V.
Garcon, Loic
Picard, V.

January 2017

22nd Congress of the European-Hematology-Association, Madrid, SPAIN, JUN 22-25, 2017International au...

Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis

Jankovsky, Nicolas
Caulier, Alexis
Demagny, Julien
Guitton, Corinne
Djordjevic, Stefan
Lebon, Delphine
Ouled-Haddou, Hakim
Picard, Veronique
Garcon, Loic

January 2021

International audienceHereditary xerocytosis is a rare red blood cell disease related to gain-of-fun...

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Picard, Veronique
Guitton, Corinne
Thuret, Isabelle
Rose, Christian
Bendelac, Laurence
Ghazal, Kaldoun
Aguilar-Martinez, Patricia
Badens, Catherine
Barro, Claire
Bénéteau, Claire
Berger, Claire
Cathébras, Pascal
Deconinck, Eric
Delaunay, Jacques
Durand, Jean-Marc
Firah, Nadia
Galactéros, Frédéric
Godeau, Bertrand
Jaïs, Xavier
Jaureguiberry, Jean-Pierre, De
Le Stradic, Camille
Lifermann, François
Maffre, Robert
Morin, Gilles
Perrin, Julien
Proulle, Valérie
Ruivard, Marc
Toutain, Fabienne
Lahary, Agnès
Garçon, Loïc

January 2019

International audienceWe describe the clinical, hematologic and genetic characteristics of a retrosp...

Hereditary Xerocytosis: Differential Behavior of PIEZO1 Mutations in the N-Terminal Extracellular Domain Between Red Blood Cells and HEK Cells

Yamaguchi, Yohei
Allegrini, Benoit
Rapetti-Mauss, Raphaël
Picard, Veronique
Garçon, Loïc
Kohl, Peter
Soriani, Olivier
Peyronnet, Rémi
Guizouarn, Hélène

January 2021

International audienceHereditary Xerocytosis, a rare hemolytic anemia, is due to gain of function mu...

Red blood cell proteomics reveal remnant protein biosynthesis and folding pathways in PIEZO1-related hereditary xerocytosis

Caulier, Alexis
Jankovsky, Nicolas
Gautier, Emilie Fleur
El Nemer, Wassim
Guitton, Corinne
Ouled-Haddou, Hakim
Guillonneau, François
Mayeux, Patrick
Salnot, Virginie
Bruce, Johanna
Picard, Véronique
Garçon, Loïc

December 2022

International audienceHereditary xerocytosis is a dominant red cell membrane disorder characterized ...

HEREDITARY XEROCYTOSIS: CLINICAL AND BIOLOGICAL PRESENTATION AT DIAGNOSIS IN A RETROSPECTIVE SERIES OF 103 PATIENTS

Picard, V.
Guitton, C.
Lahary, A.
Martinez, P. Aguilar
Ruivard, M.
Rose, C.
Perrin, J.
Barro, C.
Lifermann, F.
Jaureguiberry, J. -P., De
Deconinck, E.
Beneteau, C.
Lefebvre, T.
Toutain, F.
Le Coz, M. -F.
Berger, C.
Proulle, V.
Beris, P.
Godeau, B.
Very, C.
Garcon, Loic

January 2017

22nd Congress of the European-Hematology-Association, Madrid, SPAIN, JUN 22-25, 2017International au...

PHYSIOPATHOLOGY OF HEREDITARY XEROCYTOSIS: PIEZO1 GAIN OF FUNCTION MUTATIONS IMPACT HEMOGLOBIN OXYGEN AFFINITY

Kiger, L.
Guitton, C.
Ghazal, K.
Feneant-Thibault, M.
Bendelac, L.
Galacteros, F.
Proulle, V.
Garcon, Loic
Picard, V.

January 2017

22nd Congress of the European-Hematology-Association, Madrid, SPAIN, JUN 22-25, 2017International au...

Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis

Jankovsky, Nicolas
Caulier, Alexis
Demagny, Julien
Guitton, Corinne
Djordjevic, Stefan
Lebon, Delphine
Ouled-Haddou, Hakim
Picard, Veronique
Garcon, Loic

January 2021

International audienceHereditary xerocytosis is a rare red blood cell disease related to gain-of-fun...

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Picard, Veronique
Guitton, Corinne
Thuret, Isabelle
Rose, Christian
Bendelac, Laurence
Ghazal, Kaldoun
Aguilar-Martinez, Patricia
Badens, Catherine
Barro, Claire
Bénéteau, Claire
Berger, Claire
Cathébras, Pascal
Deconinck, Eric
Delaunay, Jacques
Durand, Jean-Marc
Firah, Nadia
Galactéros, Frédéric
Godeau, Bertrand
Jaïs, Xavier
Jaureguiberry, Jean-Pierre, De
Le Stradic, Camille
Lifermann, François
Maffre, Robert
Morin, Gilles
Perrin, Julien
Proulle, Valérie
Ruivard, Marc
Toutain, Fabienne
Lahary, Agnès
Garçon, Loïc

January 2019

International audienceWe describe the clinical, hematologic and genetic characteristics of a retrosp...

Hereditary Xerocytosis: Differential Behavior of PIEZO1 Mutations in the N-Terminal Extracellular Domain Between Red Blood Cells and HEK Cells

Yamaguchi, Yohei
Allegrini, Benoit
Rapetti-Mauss, Raphaël
Picard, Veronique
Garçon, Loïc
Kohl, Peter
Soriani, Olivier
Peyronnet, Rémi
Guizouarn, Hélène

January 2021

International audienceHereditary Xerocytosis, a rare hemolytic anemia, is due to gain of function mu...

Red blood cell proteomics reveal remnant protein biosynthesis and folding pathways in PIEZO1-related hereditary xerocytosis

Caulier, Alexis
Jankovsky, Nicolas
Gautier, Emilie Fleur
El Nemer, Wassim
Guitton, Corinne
Ouled-Haddou, Hakim
Guillonneau, François
Mayeux, Patrick
Salnot, Virginie
Bruce, Johanna
Picard, Véronique
Garçon, Loïc

December 2022

International audienceHereditary xerocytosis is a dominant red cell membrane disorder characterized ...

HEREDITARY XEROCYTOSIS: CLINICAL AND BIOLOGICAL PRESENTATION AT DIAGNOSIS IN A RETROSPECTIVE SERIES OF 103 PATIENTS

Picard, V.
Guitton, C.
Lahary, A.
Martinez, P. Aguilar
Ruivard, M.
Rose, C.
Perrin, J.
Barro, C.
Lifermann, F.
Jaureguiberry, J. -P., De
Deconinck, E.
Beneteau, C.
Lefebvre, T.
Toutain, F.
Le Coz, M. -F.
Berger, C.
Proulle, V.
Beris, P.
Godeau, B.
Very, C.
Garcon, Loic

January 2017

22nd Congress of the European-Hematology-Association, Madrid, SPAIN, JUN 22-25, 2017International au...

PHYSIOPATHOLOGY OF HEREDITARY XEROCYTOSIS: PIEZO1 GAIN OF FUNCTION MUTATIONS IMPACT HEMOGLOBIN OXYGEN AFFINITY

Abstract

Extracted data

PHYSIOPATHOLOGY OF HEREDITARY XEROCYTOSIS: PIEZO1 GAIN OF FUNCTION MUTATIONS IMPACT HEMOGLOBIN OXYGEN AFFINITY

Abstract

Extracted data

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