Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc

Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716. Epub 2017 Apr 29.

Alicia Rivera^{1

2}, David H Vandorpe^{1

2}, Boris E Shmukler^{1

2}, Denis R Gallagher³, Christopher C Fikry³, Frans A Kuypers⁴, Carlo Brugnara^{5

6}, L Michael Snyder^{3

7}, Seth L Alper^{1

2}

¹ Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
² Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
³ Quest Diagnostics, Marlborough, Massachusetts, USA.
⁴ Childrens' Hospital of Oakland Research Institute, Oakland, California, USA.
⁵ Division of Laboratory Medicine, Boston Childrens' Hospital, Harvard Medical School, Boston, Massachusetts, USA.
⁶ Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
⁷ Departments of Medicine and Pathology, UMass Memorial Medical Center, Worcester, Massachusetts, USA.

No abstract available

Publication types

Acetamides / pharmacology
Acetamides / therapeutic use*
Anemia, Hemolytic, Congenital / blood*
Anemia, Hemolytic, Congenital / genetics
Cell Count
Drug Evaluation, Preclinical
Erythrocyte Deformability
Erythrocytes / drug effects
Erythrocytes / metabolism*
Gain of Function Mutation*
Heterozygote
Humans
Hydrops Fetalis / blood*
Hydrops Fetalis / genetics
In Vitro Techniques
Intermediate-Conductance Calcium-Activated Potassium Channels / antagonists & inhibitors*
Intermediate-Conductance Calcium-Activated Potassium Channels / genetics
Ion Transport / drug effects*
Mutation, Missense*
Osmotic Fragility
Patch-Clamp Techniques
Potassium / blood*
Potassium Channel Blockers / pharmacology
Potassium Channel Blockers / therapeutic use*
Triphenylmethyl Compounds / pharmacology
Triphenylmethyl Compounds / therapeutic use*