Associated Papers
Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia.
Chen Y et al.
Journal of Clinical Laboratory Analysis, 2023
Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1.
Allegrini B et al.
Blood Cells, Molecules & Diseases, 2023
The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
Stewart GW et al.
British Journal of Haematology, 2023
An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
Ghaderi S et al.
Pharmacology & Therapeutics, 2023
Reticulocyte Maturation and Variant Red Blood Cells.
Stevens-Hernandez CJ et al.
Frontiers in Physiology, 2022
Diagnosis and clinical management of red cell membrane disorders.
Kalfa TA
Hematology. American Society of Hematology. Education Program, 2021
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.
Petkova-Kirova P et al.
Frontiers in Physiology, 2019
Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation.
Jamwal M et al.
Journal of Clinical Pathology, 2018
Hereditary stomatocytosis: An underdiagnosed condition.
Andolfo I et al.
American Journal of Hematology, 2018
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
Advances in understanding the pathogenesis of the red cell volume disorders.
Badens C et al.
British Journal of Haematology, 2016
Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.
Polin H et al.
Transfusion, 2016
Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.
Shmukler BE et al.
British Journal of Haematology, 2013
SNPs altering ammonium transport activity of human Rhesus factors characterized by a yeast-based functional assay.
Deschuyteneer A et al.
Plos One, 2013
Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.
Genetet S et al.
American Journal of Physiology. Cell Physiology, 2012
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
Stewart AK et al.
American Journal of Physiology. Cell Physiology, 2011
Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.
Darghouth D et al.
Haematologica, 2011
The Rh protein family: gene evolution, membrane biology, and disease association.
Huang CH et al.
Cellular and Molecular Life Sciences : Cmls, 2010
A new blood group system, RHAG: three antigens resulting from amino acid substitutions in the Rh-associated glycoprotein.
Tilley L et al.
Vox Sanguinis, 2010
The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.
Bruce LJ et al.
Blood, 2009