Magnesium-permeable TRPM6 polymorphisms in patients with meningomyelocele
نویسندگان
چکیده
منابع مشابه
Magnesium-permeable TRPM6 polymorphisms in patients with meningomyelocele
BACKGROUND To evaluate whether there is an association between single nucleotide polymorphisms in magnesium-permeable TRPM6 ion channel and development of meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC, along with age- and gender-matched controls. DNA collected from whole blood was analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E; Leu1579...
متن کاملERRATUM: Phosphatidylinositol 4,5-bisphosphate (PIP2) controls magnesium gatekeeper TRPM6 activity
TRPM6 is crucial for human Mg2+ homeostasis as patients carrying TRPM6 mutations develop hypomagnesemia and secondary hypocalcemia (HSH). However, the activation mechanism of TRPM6 has remained unknown. Here we demonstrate that phosphatidylinositol-4,5-bisphophate (PIP2) controls TRPM6 activation and Mg2+ influx. Stimulation of PLC-coupled M1-receptors to deplete PIP2 potently inactivates TRPM6...
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ژورنال
عنوان ژورنال: SpringerPlus
سال: 2016
ISSN: 2193-1801
DOI: 10.1186/s40064-016-3395-7