Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1-Reference-Cited by-同舟云学术

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Published:2013-05-09 Issue:19 Volume:121 Page:3925-3935
ISSN:0006-4971
Container-title:Blood
language:en
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Author:

Andolfo Immacolata¹²,Alper Seth L.³,De Franceschi Lucia⁴,Auriemma Carla¹²,Russo Roberta¹²,De Falco Luigia¹²,Vallefuoco Fara¹²,Esposito Maria Rosaria¹²,Vandorpe David H.³,Shmukler Boris E.³,Narayan Rupa⁵,Montanaro Donatella¹,D’Armiento Maria⁶,Vetro Annalisa⁷,Limongelli Ivan⁷,Zuffardi Orsetta⁷,Glader Bertil E.⁵,Schrier Stanley L.⁸,Brugnara Carlo⁹,Stewart Gordon W.¹⁰,Delaunay Jean¹¹,Iolascon Achille¹²

Affiliation:

1. Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy;

2. Centro di Ingegneria Genetica (CEINGE), Biotecnologie Avanzate, Naples, Italy;

3. Renal Division and Molecular and Vascular Medicine Division, Beth Israel Deaconess Medical Center and Department of Medicine, Harvard Medical School, Boston, MA;

4. Department of Medicine, University of Verona, Verona, Italy;

5. Division of Hematology-Oncology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA;

6. Dipartimento di Scienze biomediche avanzate, Federico II University of Naples, Naples, Italy;

7. Department of Molecular Medicine, University of Pavia, Pavia, Italy;

8. Division of Hematology, Department of Medicine, Stanford University School of Medicine, Stanford, CA;

9. Department of Laboratory Medicine, Boston Children's Hospital and Department of Pathology, Harvard Medical School, Boston, MA;

10. Division of Medicine, University College London, London, United Kingdom; and

11. Institut National de la Sante et de la Recherche Médicale (INSERM), Faculté de Médecine Paris-Sud, Université Paris-Sud, Paris, France

Abstract

Key Points Dehydrated hereditary stomatocytosis is characterized by abnormal RBC morphology but may involve pseudohyperkalemia and perinatal edema. This syndrome is associated with germline mutations in PIEZO1, encoding a transmembrane protein that induces mechanosensitive currents.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/121/19/3925/1218567/3925.pdf

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