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A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp.
Rotordam, Maria G; Fermo, Elisa; Becker, Nadine; Barcellini, Wilma; Brüggemann, Andrea; Fertig, Niels; Egée, Stéphane; Rapedius, Markus; Bianchi, Paola; Kaestner, Lars.
Affiliation
  • Rotordam MG; Saarland University, Theoretical Medicine and Biosciences, Homburg/Saar, Germany.
  • Fermo E; Nanion Technologies GmbH, Munich, Germany.
  • Becker N; UOC Ematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
  • Barcellini W; Nanion Technologies GmbH, Munich, Germany.
  • Brüggemann A; UOC Ematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
  • Fertig N; Nanion Technologies GmbH, Munich, Germany.
  • Egée S; Nanion Technologies GmbH, Munich, Germany.
  • Rapedius M; Sorbonne Université, CNRS, UMR 8227, Integrative Biology of Marine Models, Station Biologique de Roscoff, Roscoff Cedex, France.
  • Bianchi P; Laboratoire d'Excellence GR-Ex, Paris, France.
  • Kaestner L; Nanion Technologies GmbH, Munich, Germany Markus.Rapedius@nanion.de paola.bianchi@policlinico.mi.it lars_kaestner@me.com.
Haematologica ; 104(5): e179-e183, 2019 05.
Article in En | MEDLINE | ID: mdl-30237269

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Patch-Clamp Techniques / Erythrocytes / High-Throughput Screening Assays / Gain of Function Mutation / Anemia, Hemolytic, Congenital / Ion Channels Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Haematologica Year: 2019 Document type: Article Affiliation country: Germany

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Patch-Clamp Techniques / Erythrocytes / High-Throughput Screening Assays / Gain of Function Mutation / Anemia, Hemolytic, Congenital / Ion Channels Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Haematologica Year: 2019 Document type: Article Affiliation country: Germany