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Cold shock domain-containing protein E1 is a posttranscriptional regulator of the LDL receptor.
Smith GA, Padmanabhan A, Lau BH, Pampana A, Li L, Lee CY, Pelonero A, Nishino T, Sadagopan N, Xia VQ, Jain R, Natarajan P, Wu RS, Black BL, Srivastava D, Shokat KM, Chorba JS. Smith GA, et al. Among authors: xia vq. Sci Transl Med. 2022 Sep 14;14(662):eabj8670. doi: 10.1126/scitranslmed.abj8670. Epub 2022 Sep 14. Sci Transl Med. 2022. PMID: 36103516 Free PMC article.
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH. Slavotinek A, et al. Hum Mol Genet. 2020 Aug 3;29(13):2218-2239. doi: 10.1093/hmg/ddaa108. Hum Mol Genet. 2020. PMID: 32504085 Free PMC article.