A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.902
Abstract: Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and… read more here.
Keywords: pathogenic missense; jalili syndrome; novel pathogenic; variant cnnm4 ... See more keywords
Molecular expression of Mg2+ regulator TRPM7 and CNNM4 in rat odontoblasts.
Sign Up to like & getrecommendations! Published in 2018 at "Archives of oral biology"
DOI: 10.1016/j.archoralbio.2018.09.011
Abstract: OBJECTIVE Magnesium, the second most abundant cation in cellular fluid, is critical for mineralization of hard tissues. Among the molecules involved in cellular Mg2+ homeostasis, functional impairment of Mg2+ permeable ion channel TRPM7 or Mg2+… read more here.
Keywords: rat odontoblasts; trpm7 cnnm4; trpm7; expression ... See more keywords