Associated Papers
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.
Warang P et al.
Journal of Human Genetics, 2026
[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Wang Q et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
Whole genome sequencing identifies novel candidate genetic variants in canine stomatocytosis.
Wallace MD et al.
Gene, 2025
[Recurrent hemolysis and iron overload of unclear origin].
Distelmaier L et al.
Innere Medizin (heidelberg, Germany), 2025
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
Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity.
Orfali R et al.
Cell Calcium, 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
Mechanistic ion channel interactions in red cells of patients with Gárdos channelopathy.
Jansen J et al.
Blood Advances, 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
Pathophysiological Role of K2P Channels in Human Diseases.
Lee LM et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2021
Piezo1-xerocytosis red cell metabolome shows impaired glycolysis and increased hemoglobin oxygen affinity.
Kiger L et al.
Blood Advances, 2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Gardos channelopathy: functional analysis of a novel KCNN4 variant.
Fermo E et al.
Blood Advances, 2020
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 2020
Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices.
Picard V et al.
Frontiers in Physiology, 2020
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
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Picard V et al.
Haematologica, 2019
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Bauer CK et al.
American Journal of Human Genetics, 2019
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.
Petkova-Kirova P et al.
Frontiers in Physiology, 2019
Dehydrated hereditary stomatocytosis: clinical perspectives.
Frederiksen H
Journal of Blood Medicine, 2019
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
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.
Zaninoni A et al.
Frontiers in Physiology, 2018
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Glogowska E et al.
Blood, 2017
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
[Next-generation DNA sequencing in clinical diagnostics].
Lacoste C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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
Advances in understanding the pathogenesis of the red cell volume disorders.
Badens C et al.
British Journal of Haematology, 2016
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
Andolfo I et al.
American Journal of Hematology, 2015
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Rapetti-Mauss R et al.
Blood, 2015
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Glogowska E et al.
Blood, 2015