2016
DOI: 10.3324/haematol.2016.142372
|View full text |Cite
|
Sign up to set email alerts
|

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1

Citation Types

0
43
0

Year Published

2016
2016
2021
2021

Publication Types

Select...
7

Relationship

0
7

Authors

Journals

citations
Cited by 33 publications
(43 citation statements)
references
References 32 publications
0
43
0
Order By: Relevance
“…Recently, the ABCB6 variants R723Q, V454A, and R276W were found in FP patients who are regular blood donors. 60,61 The blood of these patients exhibited increased potassium leakage upon storage at temperatures below 37°C. Of note, all these variants are annotated in public databases, suggesting that FP is common in the general population.…”
Section: Familial Pseudohyperkalemia and Cryohydrocytosismentioning
confidence: 99%
See 2 more Smart Citations
“…Recently, the ABCB6 variants R723Q, V454A, and R276W were found in FP patients who are regular blood donors. 60,61 The blood of these patients exhibited increased potassium leakage upon storage at temperatures below 37°C. Of note, all these variants are annotated in public databases, suggesting that FP is common in the general population.…”
Section: Familial Pseudohyperkalemia and Cryohydrocytosismentioning
confidence: 99%
“…Recently, ionic flux assays on the mutations found in FP patients have demonstrated that the mutations are gain-of-function, causing an abnormal loss of potassium from cells at low temperatures. 60 These changes could lead either to a cation leak through the normal substrate translocation pathway of ABCB6, or to the generation of a novel constitutive or cyclic leak pathway through the protein. Recently, the ABCB6 variants R723Q, V454A, and R276W were found in FP patients who are regular blood donors.…”
Section: Familial Pseudohyperkalemia and Cryohydrocytosismentioning
confidence: 99%
See 1 more Smart Citation
“…Our primers were designed to avoid amplification of Piezo2 , Piezo1P1 and Piezo1P2 (Ensembl Gene ID ENSG00000154864, ENSG00000233686, ENSG00000237121). 13 Missense substitution mutations in PIEZO1 (Q92508) were evaluated by PolyPhen2…”
Section: Direct Sequencing Of Piezo1 Genementioning
confidence: 99%
“…Additionally, immunofluorescence analysis demonstrated that all the mutants did not impair the plasma membrane co-localization with the cell mask plasma membrane marker ( Figure 1S). When we analyzed the activity of the channel by measurement of ouabain-and bumetanide-resistant net cation flux, as previously described, 13 we observed a greater loss of cell K+ from mutants PIEZO1-expressing cells compared to WT PIEZO1-expressing cells. Of note, the presence of the two variants E2492_L2493dup + R1864H in cis led to an increase of K+ efflux respect to each variant in heterozygous state (PIEZO-E2492_L2493dup and PIEZO1-R1864H) ( Figure 2C).…”
mentioning
confidence: 99%