Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. - Wikidata - awgldk - TriplyDB

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

http://www.wikidata.org/entity/Q36051078

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New insights on hereditary erythrocyte membrane defects 'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders Modulation of Retrograde Trafficking of KCa3.1 in a Polarized Epithelium Advances 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 xerocytosis Next 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.

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P2860

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

http://www.wikidata.org/entity/Q36051078

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2015年の論文

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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.

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type

label

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

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Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

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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

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Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

@en

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Edyta Glogowska

http://www.w3.org/2001/XMLSchema#string

Kimberly Lezon-Geyda

http://www.w3.org/2001/XMLSchema#string

Patrick G Gallagher

http://www.w3.org/2001/XMLSchema#string

Yelena Maksimova

http://www.w3.org/2001/XMLSchema#string

P2860

A mutation in the Gardos channel is associated with hereditary xerocytosis

dbSNP: the NCBI database of genetic variation

A map of human genome variation from population-scale sequencing

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Identification of biologically relevant enhancers in human erythroid cells.

Local membrane deformations activate Ca2+-dependent K+ and anionic currents in intact human red blood cells.

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

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