The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells
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Title
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells
Authors
Keywords
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Journal
Frontiers in Physiology
Volume 9, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2018-04-16
DOI
10.3389/fphys.2018.00367
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Note: Only part of the references are listed.- Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis
- (2017) Raphaël Rapetti-Mauss et al. HAEMATOLOGICA
- PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis
- (2017) Immacolata Andolfo et al. HAEMATOLOGICA
- PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis
- (2017) Immacolata Andolfo et al. HAEMATOLOGICA
- Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis
- (2017) Raphaël Rapetti-Mauss et al. HAEMATOLOGICA
- Red Blood Cell Passage of Small Capillaries Is Associated with Transient Ca2+-mediated Adaptations
- (2017) Jens G. Danielczok et al. Frontiers in Physiology
- ‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
- (2017) Elisa Fermo et al. Scientific Reports
- Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context
- (2016) Reinhart A.F. Reithmeier et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia
- (2016) I. Andolfo et al. HAEMATOLOGICA
- PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus
- (2016) Shinsaku Imashuku et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia
- (2016) I. Andolfo et al. HAEMATOLOGICA
- Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)
- (2015) Immacolata Andolfo et al. AMERICAN JOURNAL OF HEMATOLOGY
- Dehydrated hereditary stomatocytosis masquerading as MDS
- (2015) M. Paessler et al. BLOOD
- Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis
- (2015) E. Glogowska et al. BLOOD
- A mutation in the Gardos channel is associated with hereditary xerocytosis
- (2015) R. Rapetti-Mauss et al. BLOOD
- Crystal structure of the anion exchanger domain of human erythrocyte band 3
- (2015) T. Arakawa et al. SCIENCE
- Chemical activation of the mechanotransduction channel Piezo1
- (2015) Ruhma Syeda et al. eLife
- Piezo1 links mechanical forces to red blood cell volume
- (2015) Stuart M Cahalan et al. eLife
- Hereditary xerocytosis revisited
- (2014) Natasha M. Archer et al. AMERICAN JOURNAL OF HEMATOLOGY
- Piezo1, a mechanically activated ion channel, is required for vascular development in mice
- (2014) S. S. Ranade et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice
- (2014) Waleed M. Bawazir et al. TRANSFUSION
- Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
- (2013) I. Andolfo et al. BLOOD
- Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report
- (2013) Boris E. Shmukler et al. BLOOD CELLS MOLECULES AND DISEASES
- Recurrent mutation in thePIEZO1gene in two families of hereditary xerocytosis with fetal hydrops
- (2013) C. Beneteau et al. CLINICAL GENETICS
- Piezo1 plays a role in erythrocyte volume homeostasis
- (2013) A. Faucherre et al. HAEMATOLOGICA
- Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach
- (2013) M. B. Sandberg et al. International Journal of Laboratory Hematology
- Strain-specific variations in cation content and transport in mouse erythrocytes
- (2013) Alicia Rivera et al. PHYSIOLOGICAL GENOMICS
- Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1
- (2013) C. Bae et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels
- (2013) Juliette Albuisson et al. Nature Communications
- Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia
- (2012) Immacolata Andolfo et al. AMERICAN JOURNAL OF HEMATOLOGY
- Characterization of cytoskeletal protein 4.1R interaction with NHE1 (Na+/H+exchanger isoform 1)
- (2012) Wataru Nunomura et al. BIOCHEMICAL JOURNAL
- Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains
- (2012) Stefanie Rungaldier et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
- (2012) R. Zarychanski et al. BLOOD
- Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis
- (2012) Alicia Rivera et al. BLOOD CELLS MOLECULES AND DISEASES
- An Infant with Pseudohyperkalemia, Hemolysis, and Seizures: Cation-Leaky GLUT1-Deficiency Syndrome due to aSLC2A1Mutation
- (2012) Waleed M. Bawazir et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Decreased Redox-Sensitive Erythrocyte Cation Channel Activity in Aquaporin 9-Deficient Mice
- (2012) Yuliya V. Kucherenko et al. JOURNAL OF MEMBRANE BIOLOGY
- ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis
- (2012) Virginie Helias et al. NATURE GENETICS
- Shifting the Paradigm: The Putative Mitochondrial Protein ABCB6 Resides in the Lysosomes of Cells and in the Plasma Membrane of Erythrocytes
- (2012) Katalin Kiss et al. PLoS One
- Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis
- (2011) Andrew K. Stewart et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells
- (2011) Sandrine Genetet et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- The Mechanosensitive Ion Channel Piezo1 Is Inhibited by the Peptide GsMTx4
- (2011) Chilman Bae et al. BIOCHEMISTRY
- Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome
- (2011) J. F. Flatt et al. BLOOD
- Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred
- (2011) B.L. Houston et al. BLOOD CELLS MOLECULES AND DISEASES
- South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects
- (2011) Hélène Guizouarn et al. BRITISH JOURNAL OF HAEMATOLOGY
- Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis
- (2011) D. Darghouth et al. HAEMATOLOGICA
- Phosphorylation and Activation of the Plasma Membrane Na+/H+ Exchanger (NHE1) during Osmotic Cell Shrinkage
- (2011) Robert R. Rigor et al. PLoS One
- Glut1 deficiency: Inheritance pattern determined by haploinsufficiency
- (2010) Michael Rotstein et al. ANNALS OF NEUROLOGY
- Parallel Reductions in Stomatin and Na,K-ATPase through the Exosomal Pathway during Reticulocyte Maturation in Dogs: Stomatin as a Genotypic and Phenotypic Marker of High K+ and Low K+ Red Cells
- (2010) Tomohiko KOMATSU et al. JOURNAL OF VETERINARY MEDICAL SCIENCE
- Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels
- (2010) B. Coste et al. SCIENCE
- The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes
- (2009) Andrew K. Stewart et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- The expanding phenotype of GLUT1-deficiency syndrome
- (2009) Knut Brockmann BRAIN & DEVELOPMENT
- Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation
- (2009) A. Bogdanova et al. HAEMATOLOGICA
- A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis
- (2009) A. Iolascon et al. HAEMATOLOGICA
- First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis
- (2009) O. Ami et al. PRENATAL DIAGNOSIS
- The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein
- (2008) L. J. Bruce et al. BLOOD
- Erythrocyte Glut1 Triggers Dehydroascorbic Acid Uptake in Mammals Unable to Synthesize Vitamin C
- (2008) Amélie Montel-Hagen et al. CELL
- Structure, function and significance of Rh proteins in red cells
- (2008) Nicholas M Burton et al. CURRENT OPINION IN HEMATOLOGY
- Dematin and Adducin Provide a Novel Link between the Spectrin Cytoskeleton and Human Erythrocyte Membrane by Directly Interacting with Glucose Transporter-1
- (2008) Anwar A. Khan et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
- (2008) Yvonne G. Weber et al. JOURNAL OF CLINICAL INVESTIGATION
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