1 | GLSPS2, ITPR1, ITPR2
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| A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
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| McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.
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| Am J Hum Genet 98(5):981-92. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. 2016
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2 | ITPR2
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| High expression of inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) as a novel biomarker for worse prognosis in cytogenetically normal acute myeloid leukemia.
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| Shi JL, Fu L, Wang WD.
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| Oncotarget 6(7):5299-309.
2015
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3 | ITPR2
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| The type 2 inositol 1,4,5-trisphosphate receptor, emerging functions for an intriguing Ca²⁺-release channel.
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| Vervloessem T, Yule DI, Bultynck G, Parys JB.
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| Biochim Biophys Acta 1853(9):1992-2005. doi: 10.1016/j.bbamcr.2014.12.006. Epub 2014 Dec 10. Review.
2015
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4 | ITPR2, RYR2
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| Mitochondrial calcium overload is a key determinant in heart failure.
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| Santulli G, Xie W, Reiken SR, Marks AR.
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| Proc Natl Acad Sci U S A 112(36):11389-94. doi: 10.1073/pnas.1513047112. Epub 2015 Jul 27.
2015
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5 | ITPR2, ITPR3
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| Mice lacking inositol 1,4,5-trisphosphate receptors exhibit dry eye.
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| Inaba T, Hisatsune C, Sasaki Y, Ogawa Y, Ebisui E, Ogawa N, Matsui M, Takeuchi T, Mikoshiba K, Tsubota K.
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| PLoS One 9(6):e99205. doi: 10.1371/journal.pone.0099205. eCollection 2014. 2014
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6 | IANHI, ITPR2
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| Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
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| Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N.
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| J Clin Invest 124(11):4773-80. doi: 10.1172/JCI70720. Epub 2014 Oct 20. 2014
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7 | ITPR2, MCU
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| Endoplasmic reticulum calcium release through ITPR2 channels leads to mitochondrial calcium accumulation and senescence.
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| Wiel C, Lallet-Daher H, Gitenay D, Gras B, Le Calvé B, Augert A, Ferrand M, Prevarskaya N, Simonnet H, Vindrieux D, Bernard D.
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| Nat Commun 5:3792. doi: 10.1038/ncomms4792.
2014
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8 | CRTC2, ITPR1, ITPR2
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| Inositol-1,4,5-trisphosphate receptor regulates hepatic gluconeogenesis in fasting and diabetes.
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| Wang Y, Li G, Goode J, Paz JC, Ouyang K, Screaton R, Fischer WH, Chen J, Tabas I, Montminy M.
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| Nature 485(7396):128-32. doi: 10.1038/nature10988.
2012
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9 | ITPR2
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| IP3 receptor type 2 deficiency is associated with a secretory defect in the pancreatic acinar cell and an accumulation of zymogen granules.
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| Orabi AI, Luo Y, Ahmad MU, Shah AU, Mannan Z, Wang D, Sarwar S, Muili KA, Shugrue C, Kolodecik TR, Singh VP, Lowe ME, Thrower E, Chen J, Husain SZ.
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| PLoS One 7(11):e48465. doi: 10.1371/journal.pone.0048465. Epub 2012 Nov 21.
2012
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10 | ITPR2
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| Neuronal overexpression of IP₃ receptor 2 is detrimental in mutant SOD1 mice.
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| Staats KA, Bogaert E, Hersmus N, Jaspers T, Luyten T, Bultynck G, Parys JB, Hisatsune C, Mikoshiba K, Van Damme P, Robberecht W, Van Den Bosch L.
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| Biochem Biophys Res Commun 429(3-4):210-3. doi: 10.1016/j.bbrc.2012.10.094. Epub 2012 Nov 3.
2012
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11 | ITPR2
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| Type 2 inositol 1,4,5-trisphosphate receptor modulates bile salt export pump activity in rat hepatocytes.
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| Kruglov EA, Gautam S, Guerra MT, Nathanson MH.
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| Hepatology 54(5):1790-9. doi: 10.1002/hep.24548. Epub 2011 Aug 30.
2011
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12 | ITPR1, ITPR2, ITPR3
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| Structural studies of inositol 1,4,5-trisphosphate receptor: coupling ligand binding to channel gating.
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| Chan J, Yamazaki H, Ishiyama N, Seo MD, Mal TK, Michikawa T, Mikoshiba K, Ikura M.
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| J Biol Chem 285(46):36092-9. doi: 10.1074/jbc.M110.140160. Epub 2010 Sep 15.
2010
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13 | DPP6, ITPR2
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| Genome-wide association studies in amyotrophic lateral sclerosis.
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| Dupré N, Valdmanis P.
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| Eur J Hum Genet 17(2):137-8. Epub 2008 Nov 5. No abstract available.
2009
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14 | ITPR1, ITPR2, ITPR3
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| Expression of IP3 receptor isoforms at the nodes of Ranvier in rat sciatic nerve.
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| Martinez-Gomez A, Dent MA.
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| Neuroreport 18(5):447-50. 2007
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15 | ITPR2
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| ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
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| van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, Van Den Bosch L, de Jong SW, van 't Slot R, Birve A, Lemmens R, de Jong V, Baas F, Schelhaas HJ, Sleegers K, Van Broeckhoven C, Wokke JH, Wijmenga C, Robberecht W, Veldink JH, Ophoff RA, van den Berg LH.
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| Lancet Neurol 6(10):869-77.
2007
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16 | ITPR2
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| The spatial distribution of inositol 1,4,5-trisphosphate receptor isoforms shapes Ca2+ waves.
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| Hernandez E, Leite MF, Guerra MT, Kruglov EA, Bruna-Romero O, Rodrigues MA, Gomes DA, Giordano FJ, Dranoff JA, Nathanson MH.
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| J Biol Chem 282(13):10057-67. Epub 2007 Feb 6.
2007
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17 | ITPR1, ITPR2, ITPR3
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| Encoding of Ca2+ signals by differential expression of IP3 receptor subtypes.
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| Miyakawa T, et al.
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| EMBO J 18 : 1303-1308. 1999
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18 | ITPR2, MECOM
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| Identification of candidate target genes for EVI-1, a zinc finger oncoprotein, using a novel selection strategy.
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| Kim JH, et al.
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| Oncogene 17 : 1527-1538. 1998
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19 | ITPR2, SSPN, KRAS
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| Coamplification in tumors of KRAS2, type 2 inositol 1,4,5 triphosphate receptor gene, and a novel human gene, KRAG.
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| Heighway J, et al.
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| Genomics 35 : 207-214. 1996
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20 | ITPR2, ITPR3
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| Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors.
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| Yamamoto-Hino M, et al.
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| Receptors Channels 2 : 9-22. 1994
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