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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: goosey lc. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571260 Free PMC article.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: goosey lc. Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. Nat Genet. 2017. PMID: 28138155 No abstract available.
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SD. Potter PK, et al. Nat Commun. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444. Nat Commun. 2016. PMID: 27534441 Free PMC article.
Cardiac mitochondrial function depends on BUD23 mediated ribosome programming.
Baxter M, Voronkov M, Poolman T, Galli G, Pinali C, Goosey L, Knight A, Krakowiak K, Maidstone R, Iqbal M, Zi M, Prehar S, Cartwright EJ, Gibbs J, Matthews LC, Adamson AD, Humphreys NE, Rebelo-Guiomar P, Minczuk M, Bechtold DA, Loudon A, Ray D. Baxter M, et al. Among authors: goosey l. Elife. 2020 Jan 15;9:e50705. doi: 10.7554/eLife.50705. Elife. 2020. PMID: 31939735 Free PMC article.
Circadian asthma airway responses are gated by REV-ERBα.
Durrington HJ, Krakowiak K, Meijer P, Begley N, Maidstone R, Goosey L, Gibbs JE, Blaikley JF, Gregory LG, Lloyd CM, Loudon ASI, Ray DW. Durrington HJ, et al. Eur Respir J. 2020 Dec 17;56(6):1902407. doi: 10.1183/13993003.02407-2019. Print 2020 Dec. Eur Respir J. 2020. PMID: 32586876 Free PMC article.