A Nonredundant Role for the TRPM6 Channel in Neural Tube Closure
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-15855-y
Abstract: In humans, germline mutations in Trpm6 cause autosomal dominant hypomagnesemia with secondary hypocalcemia disorder. Loss of Trpm6 in mice also perturbs cellular magnesium homeostasis but additionally results in early embryonic lethality and neural tube closure… read more here.
Keywords: neural tube; trpm6; tube closure; xtrpm6 ... See more keywords
Mass Spectrometric Analysis of TRPM6 and TRPM7 Phosphorylation Reveals Regulatory Mechanisms of the Channel-Kinases
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep42739
Abstract: TRPM7 and TRPM6 were the first identified bifunctional channels to contain their own kinase domains, but how these channel-kinases are regulated is poorly understood. Previous studies identified numerous phosphorylation sites on TRPM7, but very little… read more here.
Keywords: trpm7; mass spectrometric; trpm6; spectrometric analysis ... See more keywords
A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0165
Abstract: Abstract Objectives Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the TRPM6. Most of the identified variants in TRPM6 lead to premature… read more here.
Keywords: hypocalcemia; 2538g thr846thr; variant 2538g; trpm6 ... See more keywords