Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis-Reference-Cited by-同舟云学术

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

Published:2015-09-10 Issue:11 Volume:126 Page:1281-1284
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Glogowska Edyta¹,Lezon-Geyda Kimberly¹,Maksimova Yelena¹,Schulz Vincent P.¹,Gallagher Patrick G.¹²

Affiliation:

1. Department of Pediatrics and

2. Departments of Pathology and Genetics, Yale University School of Medicine, New Haven, CT

Abstract

Key Points Mutations in the Gardos channel, encoded by the KCNN4 gene, were identified in individuals from 2 hereditary xerocytosis kindreds. These findings support recent data indicating the Gardos channel plays a role in normal erythrocyte volume homeostasis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/126/11/1281/1387906/1281.pdf

Reference24 articles.

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2. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.;Zarychanski;Blood,2012

3. Membrane alterations in hereditary xerocytosis: Elevated binding of glycrealdehyde-3 phosphate dehydrogenase.;Fairbanks,1977

4. Passive cation transport in hereditary xerocytosis.;Fairbanks,1984

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