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A TMEM16J variant leads to dysregulated cytosolic calcium which may lead to renal disease

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Schreiber, Rainer ; Talbi, Khaoula ; Ousingsawat, Jiraporn ; Kunzelmann, Karl
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Date of publication of this fulltext: 20 Dec 2022 06:30

This publication is part of the DEAL contract with Wiley.


SIGIRR (single immunoglobulin IL-1 related receptor), PKP3 (plakophilin 3), and TMEM16J (anoctamin 9), a putative calcium-activated ion channel and phospholipid scramblase, control the immune response and the extent of inflammation. Variants of SIGIRR/PKP3/TMEM16J lead to severe inflammatory diseases such as pneumonia, enterocolitis, and kidney graft rejection. Meta-analysis of genome-wide ...


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