Associated Papers
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.
Warang P et al.
Journal of Human Genetics, 2026
A Rare Combination of High-Affinity Hemoglobin, Non-Transfusion-Dependent Thalassemia (Αlpha-Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis.
Fatigati C et al.
American Journal of Hematology, 2026
Whole genome sequencing identifies novel candidate genetic variants in canine stomatocytosis.
Wallace MD et al.
Gene, 2025
An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
Ghaderi S et al.
Pharmacology & Therapeutics, 2023
Severe hemolytic anemia in a newborn: Look out for rare Gardos channelopathies due to KCNN4 mutation.
Munaretto V et al.
Pediatric Blood & Cancer, 2023
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E et al.
Human Genome Variation, 2023
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.
Nam YW et al.
Acta Pharmacologica Sinica, 2023
KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.
Zahra A et al.
Current Neuropharmacology, 2023
A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
Ghesh L et al.
Clinical Genetics, 2022
New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.
Allegrini B 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
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Mansour-Hendili L et al.
American Journal of Hematology, 2021
Diagnosing dehydrated hereditary stomatocytosis due to a KCNN4 Gardos channel mutation: understanding challenges through study of a multi-generational family.
Waldstein S et al.
Ejhaem, 2021
Gardos channelopathy: functional analysis of a novel KCNN4 variant.
Fermo E et al.
Blood Advances, 2020
Congenital Hemolytic Anemias: Is There a Role for the Immune System?
Zaninoni A et al.
Frontiers in Immunology, 2020
Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices.
Picard V et al.
Frontiers in Physiology, 2020
Advances in understanding the pathogenesis of red cell membrane disorders.
Iolascon A et al.
British Journal of Haematology, 2019
Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.
Rivera A et al.
American Journal of Physiology. Cell Physiology, 2019
Activation mechanism of a human SK-calmodulin channel complex elucidated by cryo-EM structures.
Lee CH et al.
Science (new York, N.y.), 2018
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc.
Rivera A et al.
American Journal of Hematology, 2017
'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.
Fermo E et al.
Scientific Reports, 2017
Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel.
Rapetti-Mauss R et al.
Haematologica, 2016
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
Andolfo I et al.
American Journal of Hematology, 2015
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Glogowska E et al.
Blood, 2015