Gene Expression Literature Summary

Summary by Gene and Reference: Number indicates the number of results matching the search criteria recorded for each reference.

Cacna1s  calcium channel, voltage-dependent, L type, alpha 1S subunit   (Synonyms: Cav1.1, Cchl1a3, DHPR alpha1s, fmd, mdg, muscle dysgenesis, sj)
Results	Reference
1	J:136876 Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denefle P, Mandel JL, AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet. 2008 Jul 15;17(14):2132-43
1	J:199157 Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebosse M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F, Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy. PLoS Genet. 2013 Jun;9(6):e1003550
1	J:272180 Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J, Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. J Clin Invest. 2017 Dec 1;127(12):4477-4487
1	J:230346 Omori Y, Kitamura T, Yoshida S, Kuwahara R, Chaya T, Irie S, Furukawa T, Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells. Genes Cells. 2015 May;20(5):408-26
1	J:298043 Prokic I, Cowling BS, Kutchukian C, Kretz C, Tasfaout H, Gache V, Hergueux J, Wendling O, Ferry A, Toussaint A, Gavriilidis C, Nattarayan V, Koch C, Laine J, Combe R, Tiret L, Jacquemond V, Pilot-Storck F, Laporte J, Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration. Dis Model Mech. 2020 Sep 29;:dmm044354
1	J:176499 Rederstorff M, Castets P, Arbogast S, Laine J, Vassilopoulos S, Beuvin M, Dubourg O, Vignaud A, Ferry A, Krol A, Allamand V, Guicheney P, Ferreiro A, Lescure A, Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy. PLoS One. 2011;6(8):e23094