Disorders of red cell volume regulation

Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

(2012) Immacolata Andolfo et al.   AMERICAN JOURNAL OF HEMATOLOGY

ABCB6 Mutations Cause Ocular Coloboma

(2012) Lejing Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis

(2012) P. Bartolucci et al.   BLOOD

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

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

The conductance of red blood cells from sickle cell patients: ion selectivity and inhibitors

(2012) Y.-L. Ma et al.   JOURNAL OF PHYSIOLOGY-LONDON

Piezo proteins are pore-forming subunits of mechanically activated channels

(2012) Bertrand Coste et al.   NATURE

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

TheABCB6mutation p.Arg192Trp is a recessive mutation causing the Lan− blood type

(2012) C. Saison et al.   VOX SANGUINIS

Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S

(2011) Andrew K. Stewart et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

Improvements in haemolysis and indicators of erythrocyte survival do not correlate with acute vaso-occlusive crises in patients with sickle cell disease: a phase III randomized, placebo-controlled, double-blind study of the gardos channel blocker senicapo

(2011) Kenneth I. Ataga et al.   BRITISH JOURNAL OF HAEMATOLOGY

Molecular mechanisms of mechanotransduction in mammalian sensory neurons

(2011) Patrick Delmas et al.   NATURE REVIEWS NEUROSCIENCE

Pressing and squeezing with Piezos

(2010) Bernd Nilius   EMBO REPORTS

Hypoxia Activates a Ca2+-Permeable Cation Conductance Sensitive to Carbon Monoxide and to GsMTx-4 in Human and Mouse Sickle Erythrocytes

(2010) David H. Vandorpe et al.   PLoS One

Local Membrane Deformations Activate Ca2+-Dependent K+ and Anionic Currents in Intact Human Red Blood Cells

(2010) Agnieszka Dyrda et al.   PLoS One

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

(2010) B. Coste et al.   SCIENCE

Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume

(2009) Manuel A.R. Ferreira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Hereditary stomatocytosis and cation leaky red cells — Recent developments

(2009) Lesley J. Bruce   BLOOD CELLS MOLECULES AND DISEASES

The expanding phenotype of GLUT1-deficiency syndrome

(2009) Knut Brockmann   BRAIN & DEVELOPMENT

Mammalian somatosensory mechanotransduction

(2009) Makoto Tsunozaki et al.   CURRENT OPINION IN NEUROBIOLOGY

The hereditary stomatocytoses

(2009) J. F. Flatt et al.   HAEMATOLOGICA

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

(2009) A. Iolascon et al.   HAEMATOLOGICA

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

Physiology of Cell Volume Regulation in Vertebrates

(2009) Else K. Hoffmann et al.   PHYSIOLOGICAL REVIEWS

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