Literature DB >> 28619848

Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.

Raphaël Rapetti-Mauss1, Véronique Picard2, Corinne Guitton3, Khaldoun Ghazal4, Valérie Proulle5, Catherine Badens6,7, Olivier Soriani1, Loïc Garçon8, Hélène Guizouarn9.   

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Year:  2017        PMID： 28619848      PMCID： PMC5622875          DOI： 10.3324/haematol.2017.171389

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

Review 1.  The Gárdos channel: a review of the Ca2+-activated K+ channel in human erythrocytes.

Authors:  Anthony D Maher; Philip W Kuchel
Journal:  Int J Biochem Cell Biol       Date:  2003-08       Impact factor: 5.085

2.  Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).

Authors:  Sophie Demolombe; Fabrice Duprat; Eric Honoré; Amanda Patel
Journal:  Biophys J       Date:  2013-08-20       Impact factor: 4.033

3.  Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Authors:  Immacolata Andolfo; Roberta Russo; Francesco Manna; Boris E Shmukler; Antonella Gambale; Giuseppina Vitiello; Gianluca De Rosa; Carlo Brugnara; Seth L Alper; L Michael Snyder; Achille Iolascon
Journal:  Am J Hematol       Date:  2015-10       Impact factor: 10.047

4.  A mutation in the Gardos channel is associated with hereditary xerocytosis.

Authors:  Raphael Rapetti-Mauss; Caroline Lacoste; Véronique Picard; Corinne Guitton; Elise Lombard; Marie Loosveld; Vanessa Nivaggioni; Nathalie Dasilva; David Salgado; Jean-Pierre Desvignes; Christophe Béroud; Patrick Viout; Monique Bernard; Olivier Soriani; Henri Vinti; Valérie Lacroze; Madeleine Feneant-Thibault; Isabelle Thuret; Hélène Guizouarn; Catherine Badens
Journal:  Blood       Date:  2015-07-06       Impact factor: 22.113

5.  Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc.

Authors:  Alicia Rivera; David H Vandorpe; Boris E Shmukler; Denis R Gallagher; Christopher C Fikry; Frans A Kuypers; Carlo Brugnara; L Michael Snyder; Seth L Alper
Journal:  Am J Hematol       Date:  2017-04-29       Impact factor: 10.047

6.  A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality.

Authors:  D R Miller; F R Rickles; M A Lichtman; P L La Celle; J Bates; R I Weed
Journal:  Blood       Date:  1971-08       Impact factor: 22.113

7.  Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Authors:  Ryan Zarychanski; Vincent P Schulz; Brett L Houston; Yelena Maksimova; Donald S Houston; Brian Smith; Jesse Rinehart; Patrick G Gallagher
Journal:  Blood       Date:  2012-04-23       Impact factor: 22.113

8.  Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

Authors:  Edyta Glogowska; Kimberly Lezon-Geyda; Yelena Maksimova; Vincent P Schulz; Patrick G Gallagher
Journal:  Blood       Date:  2015-07-21       Impact factor: 22.113

9.  Piezo proteins are pore-forming subunits of mechanically activated channels.

Authors:  Bertrand Coste; Bailong Xiao; Jose S Santos; Ruhma Syeda; Jörg Grandl; Kathryn S Spencer; Sung Eun Kim; Manuela Schmidt; Jayanti Mathur; Adrienne E Dubin; Mauricio Montal; Ardem Patapoutian
Journal:  Nature       Date:  2012-02-19       Impact factor: 49.962

10.  Piezo1 links mechanical forces to red blood cell volume.

Authors:  Stuart M Cahalan; Viktor Lukacs; Sanjeev S Ranade; Shu Chien; Michael Bandell; Ardem Patapoutian
Journal:  Elife       Date:  2015-05-22       Impact factor: 8.140
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  15 in total

1.  Gardos channelopathy: functional analysis of a novel KCNN4 variant.

Authors:  Elisa Fermo; David Monedero-Alonso; Polina Petkova-Kirova; Asya Makhro; Laurent Pérès; Guillaume Bouyer; Anna Paola Marcello; Filomena Longo; Giovanna Graziadei; Wilma Barcellini; Anna Bogdanova; Stephane Egee; Lars Kaestner; Paola Bianchi
Journal:  Blood Adv       Date:  2020-12-22

2.  Red cell membrane disorders: structure meets function.

Authors:  Mary Risinger; Theodosia A Kalfa
Journal:  Blood       Date:  2020-09-10       Impact factor: 22.113

Review 3.  Disorders of erythrocyte hydration.

Authors:  Patrick G Gallagher
Journal:  Blood       Date:  2017-10-19       Impact factor: 22.113

4.  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

5.  Diagnosis and clinical management of red cell membrane disorders.

Authors:  Theodosia A Kalfa
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

Review 6.  Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.

Authors:  Young-Woo Nam; Myles Downey; Mohammad Asikur Rahman; Meng Cui; Miao Zhang
Journal:  Acta Pharmacol Sin       Date:  2022-06-17       Impact factor: 7.169

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

8.  Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M.

Authors:  Radhakrishnan Gnanasambandam; Alicia Rivera; David H Vandorpe; Boris E Shmukler; Carlo Brugnara; L Michael Snyder; Immacolata Andolfo; Achille Iolascon; Paulo A Silveira; Nelson Hamerschlak; Philip Gottlieb; Seth L Alper
Journal:  Hemasphere       Date:  2018-10-02

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

Review 10.  Red Blood Cells: Chasing Interactions.

Authors:  Virginia Pretini; Mischa H Koenen; Lars Kaestner; Marcel H A M Fens; Raymond M Schiffelers; Marije Bartels; Richard Van Wijk
Journal:  Front Physiol       Date:  2019-07-31       Impact factor: 4.566
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