Associated Papers
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.
Warang P et al.
Journal of Human Genetics, 2026
Whole genome sequencing identifies novel candidate genetic variants in canine stomatocytosis.
Wallace MD et al.
Gene, 2025
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E et al.
Human Genome Variation, 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
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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
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
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
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Glogowska E et al.
Blood, 2015
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