1 | CACNA1C, ZNF804A
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| The effect of psychosis associated CACNA1C, and its epistasis with ZNF804A, on brain function.
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| Tecelão D, Mendes A, Martins D, Fu C, Chaddock CA, Picchioni MM, McDonald C, Kalidindi S, Murray R, Prata DP.
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| Genes Brain Behav 18(4):e12510. doi: 10.1111/gbb.12510. Epub 2018 Sep 10.
2019
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2 | CACNA1C, HAP1
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| Regulation of L-type Ca2+ Channel activity and insulin secretion by Huntingtin-associated protein 1.
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| Pan JY, Yuan S, Yu T, Su CL, Liu XL, He J, Li H.
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| J Biol Chem Biol Chem. 2016 Sep 13. pii: jbc.M116.727990. [Epub ahead of print]
2016
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3 | CACNA1C, NFATC4
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| NFATc4 and myocardin synergistically up-regulate the expression of LTCC α1C in ET-1-induced cardiomyocyte hypertrophy.
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| Li M, He HP, Gong HQ, Zhang J, Ma WJ, Zhou H, Cao DS, Wang N, Zhang TC.
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| Life Sci 155:11-20. doi: 10.1016/j.lfs.2016.05.007. Epub 2016 May 4.
2016
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4 | CACNA1C, MRPL21, VIPR2
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| Identification of genomic biomarkers associated with the clinicopathological parameters and prognosis of esophageal squamous cell carcinoma.
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| Shi ZZ, Shang L, Jiang YY, Shi F, Xu X, Wang MR, Hao JJ.
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| Cancer Biomark 15(6):755-61. doi: 10.3233/CBM-150517.
2015
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5 | ADRA1B, CACNA1C, PLD1
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| Phospholipase D1 is involved in α1-adrenergic contraction of murine vascular smooth muscle.
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| Wegener JW, Loga F, Stegner D, Nieswandt B, Hofmann F.
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| FASEB J 28(3):1044-8. doi: 10.1096/fj.13-237925. Epub 2013 Nov 19.
2014
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6 | CACNA1C, NR1D1
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| A specific role for the REV-ERBα-controlled L-Type Voltage-Gated Calcium Channel CaV1.2 in resetting the circadian clock in the late night.
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| Schmutz I, Chavan R, Ripperger JA, Maywood ES, Langwieser N, Jurik A, Stauffer A, Delorme JE, Moosmang S, Hastings MH, Hofmann F, Albrecht U.
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| J Biol Rhythms 29(4):288-98. doi: 10.1177/0748730414540453.
2014
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7 | CACNA1C, TMTS
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| A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates.
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| Hennessey JA, Jiang Y, Miller JD, Stadt HA, Patrick W, Pfeiffer R, Antzelevitch C, Kanter R, Pitt GS.
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| Heart Rhythm 10(11):1745. doi: 10.1016/j.hrthm.2013.09.026. Epub 2013 Oct 24.
2013
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8 | CACNA1C
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| State-dependent signaling by Cav1.2 regulates hair follicle stem cell function.
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| Yucel G, Altindag B, Gomez-Ospina N, Rana A, Panagiotakos G, Lara MF, Dolmetsch R, Oro AE.
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| Genes Dev 27(11):1217-22. doi: 10.1101/gad.216556.113.
2013
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9 | BRGS3, CACNA1C
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| Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
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| Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ.
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| Circ Cardiovasc Genet 6(3):279-89.
2013
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10 | CACNA1C
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| Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development.
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| Ramachandran KV, Hennessey JA, Barnett AS, Yin X, Stadt HA, Foster E, Shah RA, Yazawa M, Dolmetsch RE, Kirby ML, Pitt GS.
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| J Clin Invest 123(4):1638-46. doi: 10.1172/JCI66903. Epub 2013 Mar 15.
2013
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11 | CACNA1C
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| Neuronal cell-type specific DNA methylation patterns of the Cacna1c gene.
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| Nishioka M, Shimada T, Bundo M, Ukai W, Hashimoto E, Saito T, Kano Y, Sasaki T, Kasai K, Kato T, Iwamoto K.
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| Int J Dev Neurosci 31(2):89-95. doi: 10.1016/j.ijdevneu.2012.11.007. Epub 2012 Nov 23.
2013
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12 | CACNA1C, LDB3
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| Cypher/ZASP is a novel A-kinase anchoring protein.
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| Lin C, Guo X, Lange S, Liu J, Ouyang K, Yin X, Jiang L, Cai Y, Mu Y, Sheikh F, Ye S, Chen J, Ke Y, Cheng H.
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| J Biol Chem 288(41):29403-13. doi: 10.1074/jbc.M113.470708. Epub 2013 Aug 31.
2013
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13 | CACNA1C
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| CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease.
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| Bhat S, Dao DT, Terrillion CE, Arad M, Smith RJ, Soldatov NM, Gould TD.
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| Prog Neurobiol 99(1):1-14. doi: 10.1016/j.pneurobio.2012.06.001. Epub 2012 Jun 15. Review.
2012
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14 | CABP1, CACNA1C
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| CaBP1 regulates voltage-dependent inactivation and activation of Ca(V)1.2 (L-type) calcium channels.
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| Oz S, Tsemakhovich V, Christel CJ, Lee A, Dascal N.
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| J Biol Chem 286(16):13945-53. Epub 2011 Mar 7.
2011
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15 | CACNA1C, PRKD1
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| Protein kinase D regulates the human cardiac L-type voltage-gated calcium channel through serine 1884.
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| Aita Y, Kurebayashi N, Hirose S, Maturana AD.
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| FEBS Lett 585(24):3903-6. doi: 10.1016/j.febslet.2011.11.011. Epub 2011 Nov 16.
2011
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16 | CACNA1C
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| The association of genetic variation in CACNA1C with structure and function of a frontotemporal system.
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| Wang F, McIntosh AM, He Y, Gelernter J, Blumberg HP.
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| Bipolar Disord 13(7-8):696-700. doi: 10.1111/j.1399-5618.2011.00963.x.
2011
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17 | CACNA1C, TMTS
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| Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein.
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| Cheng EP, Yuan C, Navedo MF, Dixon RE, Nieves-Cintrón M, Scott JD, Santana LF.
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| Circ Res 109(3):255-61. doi: 10.1161/CIRCRESAHA.111.248252. Epub 2011 Jun 23.
2011
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18 | AKAP7, CACNA1C
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| Functional roles of a C-terminal signaling complex of CaV1 channels and A-kinase anchoring protein 15 in brain neurons.
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| Marshall MR, Clark JP 3rd, Westenbroek R, Yu FH, Scheuer T, Catterall WA.
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| J Biol Chem 286(14):12627-39. doi: 10.1074/jbc.M110.175257. Epub 2011 Jan 11.
2011
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19 | CACNA1C
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| Deletion of the distal C terminus of CaV1.2 channels leads to loss of beta-adrenergic regulation and heart failure in vivo.
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| Fu Y, Westenbroek RE, Yu FH, Clark JP 3rd, Marshall MR, Scheuer T, Catterall WA.
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| J Biol Chem 286(14):12617-26. doi: 10.1074/jbc.M110.175307. Epub 2011 Jan 7.
2011
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20 | CABP1, CACNA1C
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| Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation.
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| Findeisen F, Minor DL Jr.
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| Structure 18(12):1617-31.
2010
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21 | BIN1, CACNA1C
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| BIN1 localizes the L-type calcium channel to cardiac T-tubules.
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| Hong TT, Smyth JW, Gao D, Chu KY, Vogan JM, Fong TS, Jensen BC, Colecraft HM, Shaw RM.
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| PLoS Biol 8(2):e1000312. doi: 10.1371/journal.pbio.1000312.
2010
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22 | ANK3, ANKRD32, CACNA1C, DGKH, ITIH1, ITIH3, MCTP1
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| Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
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| Scott LJ, Muglia P, Kong XQ, Guan W, Flickinger M, Upmanyu R, Tozzi F, Li JZ, Burmeister M, Absher D, Thompson RC, Francks C, Meng F, Antoniades A, Southwick AM, Schatzberg AF, Bunney WE, Barchas JD, Jones EG, Day R, Matthews K, McGuffin P, Strauss JS, Kennedy JL, Middleton L, Roses AD, Watson SJ, Vincent JB, Myers RM, Farmer AE, Akil H, Burns DK, Boehnke M.
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| Proc Natl Acad Sci U S A 106(18):7501-6. Epub 2009 Apr 28. 2009
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23 | BRGS1, BRGS10, BRGS2, BRGS3, BRGS4, BRGS5, BRGS6, BRGS7, BRGS9, CACN2B, CACNA1C, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
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| The genetic basis of Brugada syndrome: a mutation update.
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| Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.
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| Hum Mutat 30(9):1256-66. Review.PMID: 19606473 2009
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24 | ANK3, CACNA1C
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| Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
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| Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Morris DW, Elkin A, Muir WJ, McGhee KA, Williamson R, Macintyre DJ, Maclean AW, St Clair D, Robinson M, Van Beck M, Pereira AC, Kandaswamy R, McQuillin A, Collier DA, Bass NJ, Young AH, Lawrence J, Nicol Ferrier I, Anjorin A, Farmer A, Curtis D, Scolnick EM, McGuffin P, Daly MJ, Corvin AP, Holmans PA, Blackwood DH; Wellcome Trust Case Control Consortium, Gurling HM, Owen MJ, Purcell SM, Sklar P, Craddock N.
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| Nat Genet at Genet. 2008 Aug 17. [Epub ahead of print]
2008
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25 | CACNA1C
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| Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.
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| Moskvina V, Craddock N, Holmans P, Nikolov I, Pahwa JS, Green E; Wellcome Trust Case Control Consortium3, Owen MJ, O'Donovan MC.
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| Mol Psychiatry ol Psychiatry. 2008 Dec 9. [Epub ahead of print]
2008
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26 | CACNA1C, CAST
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| Calpastatin binds to a calmodulin-binding site of cardiac Cav1.2 Ca2+ channels.
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| Saud ZA, Minobe E, Wang WY, Han DY, Horiuchi M, Hao LY, Kameyama M.
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| Biochem Biophys Res Commun 364(2):372-7. Epub 2007 Oct 15.
2007
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27 | CACNA1C
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| COOH-terminal association of human smooth muscle calcium channel Ca(v)1.2b with Src kinase protein binding domains: effect of nitrotyrosylation.
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| Kang M, Ross GR, Akbarali HI.
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| Am J Physiol Cell Physiol 293(6):C1983-90. Epub 2007 Oct 17.
2007
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28 | CACNA1C
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| Molecular requirements for L-type Ca2+ channel blockade by testosterone.
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| Scragg JL, Dallas ML, Peers C.
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| Cell Calcium 42(1):11-5. Epub 2006 Dec 14.
2007
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29 | CACNA1C, TMTS
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| Calmodulin kinase II is involved in voltage-dependent facilitation of the L-type Cav1.2 calcium channel: Identification of the phosphorylation sites.
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| Lee TS, Karl R, Moosmang S, Lenhardt P, Klugbauer N, Hofmann F, Kleppisch T, Welling A.
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| J Biol Chem 281(35):25560-7. Epub 2006 Jul 4. 2006
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30 | CACNA1C, TMTS
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| Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
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| Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT.
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| Proc Natl Acad Sci U S A 102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29. 2005
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31 | TMTS, CACNA1C
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| Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
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| Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT.
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| Cell 119(1):19-31. 2004
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32 | CACNA1C
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| L-type Ca2+ channels provide a major pathway for iron entry into cardiomyocytes in iron-overload cardiomyopathy.
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| Oudit GY, Sun H, Trivieri MG, Koch SE, Dawood F, Ackerley C, Yazdanpanah M, Wilson GJ, Schwartz A, Liu PP, Backx PH.
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| Nat Med 9(9):1187-94. Epub 2003 Aug 24. 2003
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33 | CACNA1C
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| Characterization of auto-regulation of the human cardiac alpha1 subunit of the L-type calcium channel: importance of the C-terminus.
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| Mikala G, Bodi I, Klockner U, Varadi M, Varadi G, Koch SE, Schwartz A.
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| Mol Cell Biochem 250(1-2):81-9. 2003
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34 | CACNA1C
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| A new promoter for alpha1C subunit of human L-type cardiac calcium channel Ca(V)1.2.
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| Dai B, Saada N, Echetebu C, Dettbarn C, Palade P.
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| Biochem Biophys Res Commun 296(2):429-33. 2002
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35 | CACNA1C
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| Repetitive exon 45/46-related sequences of human Ca2+ channel alpha 1C subunit gene.
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| Soldatov NM, et al.
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| Hum Hered 48 : 241-244. 1998
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36 | CACNA1C
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| Genomic structure of human L-type Ca2+ channel.
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| Soldatov NM.
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| Genomics 22 : 77-87. 1994
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37 | CACNA1C
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| Cloning, chromosomal localization, and functional expression of the alpha1 subunit of the L-type voltage-dependent calcium channel from normal human heart.
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| Schultz D, et al.
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| Proc Natl Acad Sci U S A 90 : 6228-6232. 1993
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38 | CACNA1C
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| Linkage mapping of the human gene for the alpha1 subunit of the cardiac DHP-sensitive Ca2+ channel(CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat.
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| Powers PA, et al.
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| Genomics 14 : 206-207. 1992
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39 | CACNA1C
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| Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter.
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| Sun W, et al.
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| Genomics 14 : 1092-1094. 1992
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40 | CACNA1C
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| Assignment of the human gene for the alpha1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-ter.
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| Powers PA, et al.
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| Genomics 10 : 835-839. 1991
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