1 | ALS28, LRP12
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| CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
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| Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H.
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| Am J Hum Genet. Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014. Epub 2023 Jun 19. 2023
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2 | GIPC1, LRP12, NOTCH2NLC, OPDM1, OPDM2, OPDM3, OPDM4, RILPL1
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| The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
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| Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J.
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| Am J Hum Genet. Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. 2022
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3 | GIPC1, LRP12, NOTCHNLC, OPDM1, OPDM2, OPDM3, OPDM4, RILPL1
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| Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China
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| An R, Chen H, Gu W, Xu Y, He C.
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| Neurol Sci. Mar 22. doi: 10.1007/s10072-022-06005-y. Epub ahead of print. 2022
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4 | LRP12, OPDM1
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| Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
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| Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group, Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A.
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| JAMA Neurol. Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. 2021
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5 | LRP12, OPDM1
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| Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
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| Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S.
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| Nat Genet. Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. 2019
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6 | LRP12
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| LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization.
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| Grote A, Robens BK, Blümcke I, Becker AJ, Schoch S, Gembé E.
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| Neurobiol Dis. Feb;86:170-6. doi: 10.1016/j.nbd.2015.11.021. Epub 2015 Dec 2. 2016
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7 | CDH1, LRP12
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| A gene panel, including LRP12, is frequently hypermethylated in major types of B-cell lymphoma
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| Bethge N, Honne H, Andresen K, Hilden V, Trøen G, Liestøl K, Holte H, Delabie J, Lind GE, Smeland EB.
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| PLoS One. Sep 16;9(9):e104249. doi: 10.1371/journal.pone.0104249. 2014
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8 | LRP12
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| Overexpression of LRP12, a gene contained within an 8q22 amplicon identified by high-resolution array CGH analysis of oral squamous cell carcinomas.
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| Garnis C, Coe BP, Zhang L, Rosin MP, Lam WL.
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| Oncogene 23(14):2582-6. 2004
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9 | LRP12, RACK1, ZFYVE9
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| ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways.
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| Battle MA, Maher VM, McCormick JJ.
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| Biochemistry 42(24):7270-82. 2003
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10 | LRP12
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| Cloning and characterization of a novel gene encoding a putative transmembrane protein with altered expression in some human transformed and tumor-derived cell lines.
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| Qing J, et al.
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| Oncogene 18(2):335-42. 1999
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