| 1 | CCDC47, WHLDMR
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| Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
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| Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV.
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| Am J Hum Genet 103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.
2018
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| 2 | CCDC47
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| Dysregulation of the calcium handling protein, CCDC47, is associated with diabetic cardiomyopathy.
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| Thapa K, Wu KC, Sarma A, Grund EM, Szeto A, Mendez AJ, Gesta S, Vishnudas VK, Narain NR, Sarangarajan R.
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| Cell Biosci 8:45. doi: 10.1186/s13578-018-0244-0. eCollection 2018.
2018
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| 3 | CCDC47
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| Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity.
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| Yamamoto S, Yamazaki T, Komazaki S, Yamashita T, Osaki M, Matsubayashi M, Kidoya H, Takakura N, Yamazaki D, Kakizawa S.
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| Dev Biol 393(1):33-43. doi: 10.1016/j.ydbio.2014.06.024. Epub 2014 Jul 8.
2014
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| 4 | CCDC47
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| Calumin, a CaČ⁺-binding protein on the endoplasmic reticulum, alters the ion permeability of CaČ⁺ release-activated CaČ⁺ (CRAC) channels.
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| Konno M, Shirakawa H, Miyake T, Sakimoto S, Nakagawa T, Kaneko S.
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| Biochem Biophys Res Commun 417(2):784-9. doi: 10.1016/j.bbrc.2011.12.035. Epub 2011 Dec 16.
2012
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| 5 | ACOT2, AFAP1L1, ALG11, ANKS1A, ARMC6, ARPC1A, ARPC3, ARPC5L, ATG10, ATP5L, BAZ1A, BCAS2, C2orf44, CAPZA1, CAPZA2, CCDC47, CERS2, CMBL, CPSF2, CSTF3, CXorf56, EXT2, FAF2, FBXO4, FIBP, GLRX3, GPS1, GSKIP, INPP5K, KPNA4, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT36, LUC7L2, MAGED1, MED7, MMS22L, MPRIP, MPRIP, MRCL3, NAA25, NDN, NPEPPS, NRDE2, OLA1, ORCTL3, OSTF1, PH4B, PIP5K1B, PKIG, PMVK, PSMC1, PSMC2, PSPH, RAB11FIP1, RBX1, RNF219, RO60, RPS14, SF3B14, SF3B2, SFRS12, STK25, TLK2, TONSL, TPM3, TRMT112, TSPAN17, TWF2, UBE2M, UNC45A, UQCRC1, WRAP73, XPO7, ZRANB2
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| Large-scale mapping of human protein-protein interactions by mass spectrometry.
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| Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D.
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| Mol Syst Biol 3:89. Epub 2007 Mar 13. 2007
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| 6 | CCDC47
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| Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum.
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| Zhang M, Yamazaki T, Yazawa M, Treves S, Nishi M, Murai M, Shibata E, Zorzato F, Takeshima H.
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| Cell Calcium 42(1):83-90. Epub 2007 Jan 3.
2007
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