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Year Number of Results
2013 1
2014 2
2015 1
2016 3
2017 6
2018 1
2019 2
2023 2
2024 0

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16 results

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Page 1
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: cambridge el. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; International Mouse Phenotyping Consortium; Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A. Chee JM, et al. BMC Biol. 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. BMC Biol. 2023. PMID: 36737727 Free PMC article.
The AMP-activated protein kinase beta 1 subunit modulates erythrocyte integrity.
Cambridge EL, McIntyre Z, Clare S, Arends MJ, Goulding D, Isherwood C, Caetano SS, Reviriego CB, Swiatkowska A, Kane L, Harcourt K; Sanger Mouse Genetics Project; Adams DJ, White JK, Speak AO. Cambridge EL, et al. Exp Hematol. 2017 Jan;45:64-68.e5. doi: 10.1016/j.exphem.2016.09.006. Epub 2016 Sep 22. Exp Hematol. 2017. PMID: 27666489 Free PMC article.
Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.
Kuijpers TW, Tool ATJ, van der Bijl I, de Boer M, van Houdt M, de Cuyper IM, Roos D, van Alphen F, van Leeuwen K, Cambridge EL, Arends MJ, Dougan G, Clare S, Ramirez-Solis R, Pals ST, Adams DJ, Meijer AB, van den Berg TK. Kuijpers TW, et al. Among authors: cambridge el. J Allergy Clin Immunol. 2017 Jul;140(1):273-277.e10. doi: 10.1016/j.jaci.2016.09.061. Epub 2016 Dec 10. J Allergy Clin Immunol. 2017. PMID: 27965109 No abstract available.
The antiviral restriction factor IFN-induced transmembrane protein 3 prevents cytokine-driven CMV pathogenesis.
Stacey MA, Clare S, Clement M, Marsden M, Abdul-Karim J, Kane L, Harcourt K, Brandt C, Fielding CA, Smith SE, Wash RS, Brias SG, Stack G, Notley G, Cambridge EL, Isherwood C, Speak AO, Johnson Z, Ferlin W, Jones SA, Kellam P, Humphreys IR. Stacey MA, et al. Among authors: cambridge el. J Clin Invest. 2017 Apr 3;127(4):1463-1474. doi: 10.1172/JCI84889. Epub 2017 Feb 27. J Clin Invest. 2017. PMID: 28240600 Free PMC article.
FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele.
Ballesteros Reviriego C, Clare S, Arends MJ, Cambridge EL, Swiatkowska A, Caetano S, Abu-Helil B, Kane L, Harcourt K, Goulding DA, Gleeson D, Ryder E, Doe B, White JK, van der Weyden L, Dougan G, Adams DJ, Speak AO. Ballesteros Reviriego C, et al. Among authors: cambridge el. PLoS One. 2019 Mar 6;14(3):e0212481. doi: 10.1371/journal.pone.0212481. eCollection 2019. PLoS One. 2019. PMID: 30840666 Free PMC article.
High-fat feeding rapidly induces obesity and lipid derangements in C57BL/6N mice.
Podrini C, Cambridge EL, Lelliott CJ, Carragher DM, Estabel J, Gerdin AK, Karp NA, Scudamore CL; Sanger Mouse Genetics Project; Ramirez-Solis R, White JK. Podrini C, et al. Among authors: cambridge el. Mamm Genome. 2013 Jun;24(5-6):240-51. doi: 10.1007/s00335-013-9456-0. Epub 2013 May 28. Mamm Genome. 2013. PMID: 23712496 Free PMC article.
Disruption of the potassium channel regulatory subunit KCNE2 causes iron-deficient anemia.
Salsbury G, Cambridge EL, McIntyre Z, Arends MJ, Karp NA, Isherwood C, Shannon C, Hooks Y; Sanger Mouse Genetics Project; Ramirez-Solis R, Adams DJ, White JK, Speak AO. Salsbury G, et al. Among authors: cambridge el. Exp Hematol. 2014 Dec;42(12):1053-8.e1. doi: 10.1016/j.exphem.2014.07.269. Epub 2014 Aug 12. Exp Hematol. 2014. PMID: 25127743 Free PMC article.
Exclusive dependence of IL-10Rα signalling on intestinal microbiota homeostasis and control of whipworm infection.
Duque-Correa MA, Karp NA, McCarthy C, Forman S, Goulding D, Sankaranarayanan G, Jenkins TP, Reid AJ, Cambridge EL, Ballesteros Reviriego C; Sanger Mouse Genetics Project; 3i consortium; Müller W, Cantacessi C, Dougan G, Grencis RK, Berriman M. Duque-Correa MA, et al. Among authors: cambridge el. PLoS Pathog. 2019 Jan 14;15(1):e1007265. doi: 10.1371/journal.ppat.1007265. eCollection 2019 Jan. PLoS Pathog. 2019. PMID: 30640950 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.
16 results