Gardos channelopathy: functional analysis of a novel KCNN4 variant
نویسندگان
چکیده
منابع مشابه
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Hereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by primary erythrocyte dehydration. In many patients, heterozygous mutations associated with delayed channel inactivation have been identified in PIEZO1. This report describes patients from 2 well-phenotyped HX kindreds, including from one of the first HX kindreds described, who lack predicted hetero...
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15 صفحه اولThe hSK4 (KCNN4) isoform is the Ca2+-activated K+ channel (Gardos channel) in human red blood cells.
The question is, does the isoform hSK4, also designated KCNN4, represent the small conductance, Ca2+-activated K+ channel (Gardos channel) in human red blood cells? We have analyzed human reticulocyte RNA by RT-PCR, and, of the four isoforms of SK channels known, only SK4 was found. Northern blot analysis of purified and synchronously growing human erythroid progenitor cells, differentiating fr...
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ژورنال
عنوان ژورنال: Blood Advances
سال: 2020
ISSN: 2473-9529,2473-9537
DOI: 10.1182/bloodadvances.2020003285