Literature DB >> 23973043

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

Boris E Shmukler1, David H Vandorpe, Alicia Rivera, Michael Auerbach, Carlo Brugnara, Seth L Alper.   

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Year:  2013        PMID： 23973043     DOI： 10.1016/j.bcmd.2013.07.015

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  12 in total

1.  Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

Authors:  Edyta Glogowska; Eve R Schneider; Yelena Maksimova; Vincent P Schulz; Kimberly Lezon-Geyda; John Wu; Kottayam Radhakrishnan; Siobán B Keel; Donald Mahoney; Alison M Freidmann; Rachel A Altura; Elena O Gracheva; Sviatoslav N Bagriantsev; Theodosia A Kalfa; Patrick G Gallagher
Journal:  Blood       Date:  2017-07-17       Impact factor: 22.113

2.  PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

Authors:  Immacolata Andolfo; Francesco Manna; Gianluca De Rosa; Barbara Eleni Rosato; Antonella Gambale; Giovanna Tomaiuolo; Antonio Carciati; Roberta Marra; Lucia De Franceschi; Achille Iolascon; Roberta Russo
Journal:  Haematologica       Date:  2017-11-30       Impact factor: 9.941

3.  RBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis.

Authors:  Elizabeth L Evans; Oleksandr V Povstyan; Dario De Vecchis; Fraser Macrae; Laeticia Lichtenstein; T Simon Futers; Gregory Parsonage; Neil E Humphreys; Antony Adamson; Antreas C Kalli; Melanie J Ludlow; David J Beech
Journal:  Blood       Date:  2020-07-02       Impact factor: 22.113

4.  The Mechanosensitive Ion Channel Piezo Inhibits Axon Regeneration.

Authors:  Yuanquan Song; Dan Li; Olivia Farrelly; Leann Miles; Feng Li; Sung Eun Kim; Tsz Y Lo; Fei Wang; Tun Li; Katherine L Thompson-Peer; Jiaxin Gong; Swetha E Murthy; Bertrand Coste; Nikita Yakubovich; Ardem Patapoutian; Yang Xiang; Panteleimon Rompolas; Lily Yeh Jan; Yuh Nung Jan
Journal:  Neuron       Date:  2019-02-25       Impact factor: 17.173

5.  Investigating the structural dynamics of the PIEZO1 channel activation and inactivation by coarse-grained modeling.

Authors:  Wenjun Zheng; Frederick Sachs
Journal:  Proteins       Date:  2017-09-23

6.  Hereditary xerocytosis revisited.

Authors:  Natasha M Archer; Boris E Shmukler; Immacolata Andolfo; David H Vandorpe; Radhakrishnan Gnanasambandam; John M Higgins; Alicia Rivera; Mark D Fleming; Frederick Sachs; Philip A Gottlieb; Achille Iolascon; Carlo Brugnara; Seth L Alper; David G Nathan
Journal:  Am J Hematol       Date:  2014-07-21       Impact factor: 10.047

Review 7.  On the Mechanism of Human Red Blood Cell Longevity: Roles of Calcium, the Sodium Pump, PIEZO1, and Gardos Channels.

Authors:  Virgilio L Lew; Teresa Tiffert
Journal:  Front Physiol       Date:  2017-12-12       Impact factor: 4.566

8.  Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.

Authors:  Elisa Fermo; Cristina Vercellati; Anna Paola Marcello; Anna Zaninoni; Richard van Wijk; Nadia Mirra; Cristina Curcio; Agostino Cortelezzi; Alberto Zanella; Wilma Barcellini; Paola Bianchi
Journal:  Case Rep Hematol       Date:  2017-03-06

Review 9.  Squeezing for Life - Properties of Red Blood Cell Deformability.

Authors:  Rick Huisjes; Anna Bogdanova; Wouter W van Solinge; Raymond M Schiffelers; Lars Kaestner; Richard van Wijk
Journal:  Front Physiol       Date:  2018-06-01       Impact factor: 4.566

10.  Voltage gating of mechanosensitive PIEZO channels.

Authors:  Mirko Moroni; M Rocio Servin-Vences; Raluca Fleischer; Oscar Sánchez-Carranza; Gary R Lewin
Journal:  Nat Commun       Date:  2018-03-15       Impact factor: 14.919
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