| 1 | CASQ1, VMCQA
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| A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.
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| D'Adamo MC, Sforna L, Visentin S, Grottesi A, Servettini L, Guglielmi L, Macchioni L, Saredi S, Curcio M, De Nuccio C, Hasan S, Corazzi L, Franciolini F, Mora M, Catacuzzeno L, Pessia M.
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| PLoS One 11(5):e0155516. doi: 10.1371/journal.pone.0155516. eCollection 2016.
2016
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| 2 | CASQ1
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| Novel single-nucleotide polymorphisms in the calsequestrin-1 gene are associated with Graves' ophthalmopathy and Hashimoto's thyroiditis.
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| Lahooti H, Cultrone D, Edirimanne S, Walsh JP, Delbridge L, Cregan P, Champion B, Wall JR.
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| Clin Ophthalmol 9:1731-40. doi: 10.2147/OPTH.S87972. eCollection 2015.
2015
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| 3 | CASQ1, CASQ2
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| The C-terminal calcium-sensitive disordered motifs regulate isoform-specific polymerization characteristics of calsequestrin.
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| Bal NC, Jena N, Chakravarty H, Kumar A, Chi M, Balaraju T, Rawale SV, Rawale JS, Sharon A, Periasamy M.
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| Biopolymers 103(1):15-22. doi: 10.1002/bip.22534.
2015
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| 4 | CASQ1
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| Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
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| Lewis KM, Ronish LA, Ríos E, Kang C.
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| J Biol Chem 290(48):28665-74. doi: 10.1074/jbc.M115.686261. Epub 2015 Sep 28.
2015
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| 5 | CASQ1, VMCQA
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| A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
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| Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V.
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| Hum Mutat 35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10.
2014
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| 6 | CASQ1
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| An association study of CASQ1 gene polymorphisms and heat stroke.
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| Li Y, Wang Y, Ma L.
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| Genomics Proteomics Bioinformatics 12(3):127-32. doi: 10.1016/j.gpb.2014.03.004. Epub 2014 Jun 2.
2014
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| 7 | CASQ1, TRDN
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| Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum.
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| Rossi D, Bencini C, Maritati M, Benini F, Lorenzini S, Pierantozzi E, Scarcella AM, Paolini C, Protasi F, Sorrentino V.
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| Biochem J 458(2):407-17. doi: 10.1042/BJ20130719.
2014
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| 8 | CASQ1, DYSF, MYOM2
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| Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
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| Flix B, de la Torre C, Castillo J, Casal C, Illa I, Gallardo E.
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| Int J Biochem Cell Biol 45(8):1927-38. doi: 10.1016/j.biocel.2013.06.007. Epub 2013 Jun 19.
2013
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| 9 | CASQ1, CASQ2
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| High-capacity Ca2+ binding of human skeletal calsequestrin.
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| Sanchez EJ, Lewis KM, Danna BR, Kang C.
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| J Biol Chem 287(14):11592-601. doi: 10.1074/jbc.M111.335075. Epub 2012 Feb 15.
2012
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| 10 | ASPH, CASQ1, TRDN
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| Triadin/Junctin double null mouse reveals a differential role for Triadin and Junctin in anchoring CASQ to the jSR and regulating Ca(2+) homeostasis.
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| Boncompagni S, Thomas M, Lopez JR, Allen PD, Yuan Q, Kranias EG, Franzini-Armstrong C, Perez CF.
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| PLoS One 7(7):e39962. doi: 10.1371/journal.pone.0039962. Epub 2012 Jul 2.
2012
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| 11 | CASQ1
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| Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice.
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| Tomasi M, Canato M, Paolini C, Dainese M, Reggiani C, Volpe P, Protasi F, Nori A.
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| Am J Physiol Cell Physiol 302(3):C575-86. doi: 10.1152/ajpcell.00119.2011. Epub 2011 Nov 2.
2012
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| 12 | CASQ1, CPVT5
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| Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
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| Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Trémeaux P, Lacampagne A, Fauré J, Lunardi J, Marty I.
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| Hum Mol Genet 21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.
2012
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| 13 | CASQ1
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| Increased store-operated Ca2+ entry in skeletal muscle with reduced calsequestrin-1 expression.
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| Zhao X, Min CK, Ko JK, Parness J, Kim DH, Weisleder N, Ma J.
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| Biophys J 99(5):1556-64. doi: 10.1016/j.bpj.2010.06.050.
2010
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| 14 | CASQ1, CASQ2
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| Unique isoform-specific properties of calsequestrin in the heart and skeletal muscle.
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| Wei L, Hanna AD, Beard NA, Dulhunty AF.
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| Cell Calcium 45(5):474-84. Epub 2009 Apr 18.PMID: 19376574 2009
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| 15 | CASQ1
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| Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice.
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| Dainese M, Quarta M, Lyfenko AD, Paolini C, Canato M, Reggiani C, Dirksen RT, Protasi F.
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| FASEB J 23(6):1710-20. Epub 2009 Feb 23.PMID: 19237502 2009
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| 16 | CASQ1
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| Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke.
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| Protasi F, Paolini C, Dainese M.
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| J Physiol 587(Pt 13):3095-100. Epub 2009 May 5. Review.PMID: 19417098 2009
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| 17 | ASPH, CASQ1, TRDN
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| Junctin and triadin each activate skeletal ryanodine receptors but junctin alone mediates functional interactions with calsequestrin.
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| Wei L, Gallant EM, Dulhunty AF, Beard NA.
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| Int J Biochem Cell Biol 41(11):2214-24. doi: 10.1016/j.biocel.2009.04.017. Epub 2009 May 4.
2009
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| 18 | CASQ1, DUSP12, NIDDM20
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| Type 2 diabetes susceptibility genes on chromosome 1q21-24.
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| Hasstedt SJ, Chu WS, Das SK, Wang H, Elbein SC.
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| Ann Hum Genet 72(Pt 2):163-9. 2008
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| 19 | CASQ1, CASQ2, VTSIP1, VTSIP2
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| Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
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| Song L, Alcalai R, Arad M, Wolf CM, Toka O, Conner DA, Berul CI, Eldar M, Seidman CE, Seidman JG.
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| J Clin Invest 117(7):1814-23.
2007
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| 20 | CASQ1
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| Reorganized stores and impaired calcium handling in skeletal muscle of mice lacking calsequestrin-1.
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| Paolini C, Quarta M, Nori A, Boncompagni S, Canato M, Volpe P, Allen PD, Reggiani C, Protasi F.
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| J Physiol 583(Pt 2):767-84. Epub 2007 Jul 12.PMID: 17627988 2007
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| 21 | CASQ1
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| Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish.
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| Fu M, Damcott CM, Sabra M, Pollin TI, Ott SH, Wang J, Garant MJ, O'Connell JR, Mitchell BD, Shuldiner AR.
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| Diabetes 53(12):3292-9. 2004
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| 22 | CASQ1
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| Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine.
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| Bataille N, Schmitt N, Aumercier-Maes P, Ollivier B, Lucas-Heron B, Lestienne P.
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| Biochem Biophys Res Commun 203(3):1477-82.PMID: 7945294 1994
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| 23 | ATP2A2, PLN, CASQ1, CASQ2, RYR2
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| Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.
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| Otsu K, et al.
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| Genomics 17 : 507-509. 1993
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| 24 | CASQ1
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| Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene.
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| Fujii J, et al.
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| Somat Cell Mol Genet 16 : 185-189. 1990
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