Literature DB >> 23581886

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

C Beneteau1, G Thierry, S Blesson, C Le Vaillant, V Picard, M C Béné, M Eveillard, C Le Caignec.   

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Year:  2013        PMID： 23581886     DOI： 10.1111/cge.12147

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 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

Review 2.  The mechanosensitive Piezo1 channel: structural features and molecular bases underlying its ion permeation and mechanotransduction.

Authors:  Yubo Wang; Bailong Xiao
Journal:  J Physiol       Date:  2017-12-19       Impact factor: 5.182

3.  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

4.  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

5.  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 6.  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

Review 7.  The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.

Authors:  Joanna F Flatt; Lesley J Bruce
Journal:  Front Physiol       Date:  2018-04-16       Impact factor: 4.566

Review 8.  The Shape Shifting Story of Reticulocyte Maturation.

Authors:  Elina Ovchynnikova; Francesca Aglialoro; Marieke von Lindern; Emile van den Akker
Journal:  Front Physiol       Date:  2018-07-11       Impact factor: 4.566

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

Authors:  Véronique Picard; Corinne Guitton; Isabelle Thuret; Christian Rose; Laurence Bendelac; Kaldoun Ghazal; Patricia Aguilar-Martinez; Catherine Badens; Claire Barro; Claire Bénéteau; Claire Berger; Pascal Cathébras; Eric Deconinck; Jacques Delaunay; Jean-Marc Durand; Nadia Firah; Frédéric Galactéros; Bertrand Godeau; Xavier Jaïs; Jean-Pierre de Jaureguiberry; Camille Le Stradic; François Lifermann; Robert Maffre; Gilles Morin; Julien Perrin; Valérie Proulle; Marc Ruivard; Fabienne Toutain; Agnès Lahary; Loïc Garçon
Journal:  Haematologica       Date:  2019-01-17       Impact factor: 9.941

10.  Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Authors:  Elisavet Fotiou; Silvia Martin-Almedina; Michael A Simpson; Shin Lin; Kristiana Gordon; Glen Brice; Giles Atton; Iona Jeffery; David C Rees; Cyril Mignot; Julie Vogt; Tessa Homfray; Michael P Snyder; Stanley G Rockson; Steve Jeffery; Peter S Mortimer; Sahar Mansour; Pia Ostergaard
Journal:  Nat Commun       Date:  2015-09-03       Impact factor: 14.919
  10 in total

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