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Page 1
Genetic determinants of micronucleus formation in vivo.
Adams DJ, Barlas B, McIntyre RE, Salguero I, van der Weyden L, Barros A, Vicente JR, Karimpour N, Haider A, Ranzani M, Turner G, Thompson NA, Harle V, Olvera-León R, Robles-Espinoza CD, Speak AO, Geisler N, Weninger WJ, Geyer SH, Hewinson J, Karp NA; Sanger Mouse Genetics Project; Fu B, Yang F, Kozik Z, Choudhary J, Yu L, van Ruiten MS, Rowland BD, Lelliott CJ, Del Castillo Velasco-Herrera M, Verstraten R, Bruckner L, Henssen AG, Rooimans MA, de Lange J, Mohun TJ, Arends MJ, Kentistou KA, Coelho PA, Zhao Y, Zecchini H, Perry JRB, Jackson SP, Balmus G. Adams DJ, et al. Among authors: lelliott cj. Nature. 2024 Mar;627(8002):130-136. doi: 10.1038/s41586-023-07009-0. Epub 2024 Feb 14. Nature. 2024. PMID: 38355793 Free PMC article.
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C; Sanger Mouse Genetics Project; Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B. Kannan M, et al. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317. doi: 10.1073/pnas.1713625114. Epub 2017 Oct 12. Proc Natl Acad Sci U S A. 2017. PMID: 29078390 Free PMC article.
Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson's disease mouse model.
Fang TZ, Sun Y, Pearce AC, Eleuteri S, Kemp M, Luckhurst CA, Williams R, Mills R, Almond S, Burzynski L, Márkus NM, Lelliott CJ, Karp NA, Adams DJ, Jackson SP, Zhao JF, Ganley IG, Thompson PW, Balmus G, Simon DK. Fang TZ, et al. Among authors: lelliott cj. Nat Commun. 2023 Nov 13;14(1):7295. doi: 10.1038/s41467-023-42876-1. Nat Commun. 2023. PMID: 37957154 Free PMC article.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: lelliott cj. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Performance of non-invasive tests and histology for the prediction of clinical outcomes in patients with non-alcoholic fatty liver disease: an individual participant data meta-analysis.
Mózes FE, Lee JA, Vali Y, Alzoubi O, Staufer K, Trauner M, Paternostro R, Stauber RE, Holleboom AG, van Dijk AM, Mak AL, Boursier J, de Saint Loup M, Shima T, Bugianesi E, Gaia S, Armandi A, Shalimar, Lupșor-Platon M, Wong VW, Li G, Wong GL, Cobbold J, Karlas T, Wiegand J, Sebastiani G, Tsochatzis E, Liguori A, Yoneda M, Nakajima A, Hagström H, Akbari C, Hirooka M, Chan WK, Mahadeva S, Rajaram R, Zheng MH, George J, Eslam M, Petta S, Pennisi G, Viganò M, Ridolfo S, Aithal GP, Palaniyappan N, Lee DH, Ekstedt M, Nasr P, Cassinotto C, de Lédinghen V, Berzigotti A, Mendoza YP, Noureddin M, Truong E, Fournier-Poizat C, Geier A, Martic M, Tuthill T, Anstee QM, Harrison SA, Bossuyt PM, Pavlides M; LITMUS investigators. Mózes FE, et al. Lancet Gastroenterol Hepatol. 2023 Aug;8(8):704-713. doi: 10.1016/S2468-1253(23)00141-3. Epub 2023 Jun 5. Lancet Gastroenterol Hepatol. 2023. PMID: 37290471 Free article.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: lelliott cj. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Machine learning algorithm improves the detection of NASH (NAS-based) and at-risk NASH: A development and validation study.
Lee J, Westphal M, Vali Y, Boursier J, Petta S, Ostroff R, Alexander L, Chen Y, Fournier C, Geier A, Francque S, Wonders K, Tiniakos D, Bedossa P, Allison M, Papatheodoridis G, Cortez-Pinto H, Pais R, Dufour JF, Leeming DJ, Harrison S, Cobbold J, Holleboom AG, Yki-Järvinen H, Crespo J, Ekstedt M, Aithal GP, Bugianesi E, Romero-Gomez M, Torstenson R, Karsdal M, Yunis C, Schattenberg JM, Schuppan D, Ratziu V, Brass C, Duffin K, Zwinderman K, Pavlides M, Anstee QM, Bossuyt PM; LITMUS investigators. Lee J, et al. Hepatology. 2023 Jul 1;78(1):258-271. doi: 10.1097/HEP.0000000000000364. Epub 2023 Mar 31. Hepatology. 2023. PMID: 36994719
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, McGavin L, Rowley C, Harlalka GV, Vancollie VE, Ahmad W, Lelliott CJ, Gul A, Yalcin B, Crosby AH, Sacher M, Baple EL. Rawlins LE, et al. Among authors: lelliott cj. PLoS Genet. 2022 Mar 17;18(3):e1010114. doi: 10.1371/journal.pgen.1010114. eCollection 2022 Mar. PLoS Genet. 2022. PMID: 35298461 Free PMC article.
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
Al-Amri AH, Armstrong P, Amici M, Ligneul C, Rouse J, El-Asrag ME, Pantiru A, Vancollie VE, Ng HWY, Ogbeta JA, Goodchild K, Ellegood J, Lelliott CJ, Mullins JGL, Bretman A, Al-Ali R, Beetz C, Al-Gazali L, Al Shamsi A, Lerch JP, Mellor JR, Al Sayegh A, Ali M, Inglehearn CF, Clapcote SJ. Al-Amri AH, et al. Among authors: lelliott cj. Biol Psychiatry. 2022 Aug 15;92(4):323-334. doi: 10.1016/j.biopsych.2021.12.017. Epub 2022 Jan 11. Biol Psychiatry. 2022. PMID: 35227461 Free PMC article.
58 results