Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
about
New insights on hereditary erythrocyte membrane defects'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulationInsight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disordersModulation of Retrograde Trafficking of KCa3.1 in a Polarized EpitheliumAdvances in understanding the pathogenesis of the red cell volume disorders.Red cell membrane disorders.Pore size matters for potassium channel conductance.Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel.Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosisNext generation research and therapy in red blood cell diseases.Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.Red Blood Cell Passage of Small Capillaries Is Associated with Transient Ca2+-mediated Adaptations.Disorders of erythrocyte hydration.Hereditary stomatocytosis: An underdiagnosed condition.Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc.Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.Voltage-Activated Ion Channels in Non-excitable Cells-A Viewpoint Regarding Their Physiological Justification.The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.Squeezing for Life - Properties of Red Blood Cell Deformability.
P2860
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P2860
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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2015年论文
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2015年论文
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name
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
@ast
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
@en
type
label
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
@ast
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
@en
prefLabel
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
@ast
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
@en
P2093
P2860
P1433
P1476
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
@en
P2093
Edyta Glogowska
Kimberly Lezon-Geyda
Patrick G Gallagher
Yelena Maksimova
P2860
P304
P356
10.1182/BLOOD-2015-07-657957
P407
P577
2015-07-21T00:00:00Z