Literature DB >> 25976965

Disorders of erythrocyte volume homeostasis.

E Glogowska1, P G Gallagher1.   

Abstract

Inherited disorders of erythrocyte volume homeostasis are a heterogeneous group of rare disorders with phenotypes ranging from dehydrated to overhydrated erythrocytes. Clinical, laboratory, physiologic, and genetic heterogeneities characterize this group of disorders. A series of recent reports have provided novel insights into our understanding of the genetic bases underlying some of these disorders of red cell volume regulation. This report reviews this progress in understanding determinants that influence erythrocyte hydration and how they have yielded a better understanding of the pathways that influence cellular water and solute homeostasis.
© 2015 John Wiley & Sons Ltd.

Entities:  

Keywords:  Band 3; Erythrocyte; GLUT1; PIEZO1; RhAG; stomatocytosis; volume homeostasis; xerocytosis

Mesh：

Substances：

Year:  2015        PMID： 25976965      PMCID： PMC4435826          DOI： 10.1111/ijlh.12357

Source DB:  PubMed          Journal:  Int J Lab Hematol        ISSN： 1751-5521            Impact factor:   2.877


  38 in total

Review 1.  Cellular volume homeostasis.

Authors:  Kevin Strange
Journal:  Adv Physiol Educ       Date:  2004-12       Impact factor: 2.288

2.  A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.

Authors:  S E Coles; M M Ho; M C Chetty; A Nicolaou; G W Stewart
Journal:  Br J Haematol       Date:  1999-02       Impact factor: 6.998

Review 3.  The molecular basis of hereditary red cell membrane disorders.

Authors:  Jean Delaunay
Journal:  Blood Rev       Date:  2006-05-30       Impact factor: 8.250

Review 4.  Ion transport pathology in the mechanism of sickle cell dehydration.

Authors:  Virgilio L Lew; Robert M Bookchin
Journal:  Physiol Rev       Date:  2005-01       Impact factor: 37.312

Review 5.  Autocrine signaling involved in cell volume regulation: the role of released transmitters and plasma membrane receptors.

Authors:  Rodrigo Franco; Mihalis I Panayiotidis; Lenin D Ochoa de la Paz
Journal:  J Cell Physiol       Date:  2008-07       Impact factor: 6.384

6.  South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.

Authors:  Hélène Guizouarn; Franck Borgese; Nicole Gabillat; Penny Harrison; Jeroen S Goede; Corrina McMahon; Gordon W Stewart; Lesley J Bruce
Journal:  Br J Haematol       Date:  2011-01-23       Impact factor: 6.998

7.  Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

Authors:  Chilman Bae; Radhakrishnan Gnanasambandam; Chris Nicolai; Frederick Sachs; Philip A Gottlieb
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-04       Impact factor: 11.205

8.  Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C.

Authors:  Amélie Montel-Hagen; Sandrina Kinet; Nicolas Manel; Cédric Mongellaz; Rainer Prohaska; Jean-Luc Battini; Jean Delaunay; Marc Sitbon; Naomi Taylor
Journal:  Cell       Date:  2008-03-21       Impact factor: 41.582

9.  Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.

Authors:  Lesley J Bruce; Hannah C Robinson; Hélène Guizouarn; Franck Borgese; Penny Harrison; May-Jean King; Jeroen S Goede; Suzanne E Coles; Daniel M Gore; Hans U Lutz; Romina Ficarella; D Mark Layton; Achille Iolascon; J Clive Ellory; Gordon W Stewart
Journal:  Nat Genet       Date:  2005-10-09       Impact factor: 38.330

10.  Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

Authors:  Immacolata Andolfo; Seth L Alper; Jean Delaunay; Carla Auriemma; Roberta Russo; Roberta Asci; Maria Rosaria Esposito; Alok K Sharma; Boris E Shmukler; Carlo Brugnara; Lucia De Franceschi; Achille Iolascon
Journal:  Am J Hematol       Date:  2012-11-24       Impact factor: 10.047
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  13 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.  Controlling Phlebotomy Volume Diminishes PICU Transfusion: Implementation Processes and Impact.

Authors:  Katherine Steffen; Allan Doctor; Julie Hoerr; Jeff Gill; Chris Markham; Sarah M Brown; Daniel Cohen; Rose Hansen; Emily Kryzer; Jessica Richards; Sara Small; Stacey Valentine; Jennifer L York; Enola K Proctor; Philip C Spinella
Journal:  Pediatrics       Date:  2017-07-13       Impact factor: 7.124

3.  Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel.

Authors:  Raphael Rapetti-Mauss; Olivier Soriani; Henri Vinti; Catherine Badens; Hélène Guizouarn
Journal:  Haematologica       Date:  2016-07-21       Impact factor: 9.941

Review 4.  Disorders of erythrocyte hydration.

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

5.  Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.

Authors:  Elizabeth Yang; Erin B Voelkel; Kimberly Lezon-Geyda; Vincent P Schulz; Patrick G Gallagher
Journal:  Pediatr Blood Cancer       Date:  2017-01-25       Impact factor: 3.167

Review 6.  Piezo2 in Cutaneous and Proprioceptive Mechanotransduction in Vertebrates.

Authors:  E O Anderson; E R Schneider; S N Bagriantsev
Journal:  Curr Top Membr       Date:  2017-01-16       Impact factor: 3.049

7.  Red Blood Cell Passage of Small Capillaries Is Associated with Transient Ca2+-mediated Adaptations.

Authors:  Jens G Danielczok; Emmanuel Terriac; Laura Hertz; Polina Petkova-Kirova; Franziska Lautenschläger; Matthias W Laschke; Lars Kaestner
Journal:  Front Physiol       Date:  2017-12-05       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

9.  Effect of Media with Different Glycerol Concentrations on Sheep Red Blood Cells' Viability In Vitro.

Authors:  Valeria Pasciu; Francesca D Sotgiu; Cristian Porcu; Fiammetta Berlinguer
Journal:  Animals (Basel)       Date:  2021-05-28       Impact factor: 2.752

10.  Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients.

Authors:  Anna Zaninoni; Elisa Fermo; Cristina Vercellati; Dario Consonni; Anna P Marcello; Alberto Zanella; Agostino Cortelezzi; Wilma Barcellini; Paola Bianchi
Journal:  Front Physiol       Date:  2018-04-27       Impact factor: 4.566
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