Gene Expression Literature Summary

Summary by Gene and Reference: Number indicates the number of results matching the search criteria recorded for each reference.
* Indicates detailed expression data entries available

Ryr1  ryanodine receptor 1, skeletal muscle   (Synonyms: calcium release channel isoform 1, Ryr, skrr)
Results	Reference
1	J:31270 Aruga J, Yokota N, Hashimoto M, Furuichi T, Fukuda M, Mikoshiba K, A novel zinc finger protein, zic, is involved in neurogenesis, especially in the cell lineage of cerebellar granule cells. J Neurochem. 1994 Nov;63(5):1880-90
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:276784 Estan MC, Fernandez-Nunez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bonnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL, Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 Feb 15;10(1):797
1	J:56913 Flucher BE, Conti A, Takeshima H, Sorrentino V, Type 3 and type 1 ryanodine receptors are localized in triads of the same mammalian skeletal muscle fibers. J Cell Biol. 1999 Aug 9;146(3):621-30
1	J:194896 Pistocchi A, Gaudenzi G, Foglia E, Monteverde S, Moreno-Fortuny A, Pianca A, Cossu G, Cotelli F, Messina G, Conserved and divergent functions of Nfix in skeletal muscle development during vertebrate evolution. Development. 2013 Apr;140(7):1528-36
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
1*	J:145505 Stiber J, Hawkins A, Zhang ZS, Wang S, Burch J, Graham V, Ward CC, Seth M, Finch E, Malouf N, Williams RS, Eu JP, Rosenberg P, STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle. Nat Cell Biol. 2008 Jun;10(6):688-97
1*	J:283448 Sun SC, Ma D, Li MY, Zhang RX, Huang C, Huang HJ, Xie YZ, Wang ZJ, Liu J, Cai DC, Liu CX, Yang Q, Bao FX, Gong XL, Li JR, Hui Z, Wei XF, Zhong JM, Zhou WJ, Shang X, Zhang C, Liu XG, Tang BS, Xiong F, Xu XM, Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain. 2019 Aug 1;142(8):2215-2229