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
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.
Nam YW et al.
Acta Pharmacologica Sinica, 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
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
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
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