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Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ. Azizan EA, et al. Among authors: tuluc p. Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913004
[No title available]
[No authors listed] [No authors listed] PMID: 36782449
[No title available]
[No authors listed] [No authors listed] PMID: 36782450
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J. Ortner NJ, et al. Among authors: tuluc p. JCI Insight. 2023 Oct 23;8(20):e162100. doi: 10.1172/jci.insight.162100. JCI Insight. 2023. PMID: 37698939 Free PMC article.
43 results