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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.
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.
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC; Sanger Institute Mouse Genetics Project; Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP. White JK, et al. Cell. 2013 Jul 18;154(2):452-64. doi: 10.1016/j.cell.2013.06.022. Cell. 2013. PMID: 23870131 Free PMC article.
Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene.
Maguire S, Estabel J, Ingham N, Pearson S, Ryder E, Carragher DM, Walker N; Sanger MGP Slc25a21 Project Team; Bussell J, Chan WI, Keane TM, Adams DJ, Scudamore CL, Lelliott CJ, Ramírez-Solis R, Karp NA, Steel KP, White JK, Gerdin AK. Maguire S, et al. PLoS One. 2014 Mar 18;9(3):e91807. doi: 10.1371/journal.pone.0091807. eCollection 2014. PLoS One. 2014. PMID: 24642684 Free PMC article.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.
Balmus G, Larrieu D, Barros AC, Collins C, Abrudan M, Demir M, Geisler NJ, Lelliott CJ, White JK, Karp NA, Atkinson J, Kirton A, Jacobsen M, Clift D, Rodriguez R; Sanger Mouse Genetics Project; Adams DJ, Jackson SP. Balmus G, et al. Nat Commun. 2018 Apr 27;9(1):1700. doi: 10.1038/s41467-018-03770-3. Nat Commun. 2018. PMID: 29703891 Free PMC article.
Identification of genetic elements in metabolism by high-throughput mouse phenotyping.
Rozman J, Rathkolb B, Oestereicher MA, Schütt C, Ravindranath AC, Leuchtenberger S, Sharma S, Kistler M, Willershäuser M, Brommage R, Meehan TF, Mason J, Haselimashhadi H; IMPC Consortium; Hough T, Mallon AM, Wells S, Santos L, Lelliott CJ, White JK, Sorg T, Champy MF, Bower LR, Reynolds CL, Flenniken AM, Murray SA, Nutter LMJ, Svenson KL, West D, Tocchini-Valentini GP, Beaudet AL, Bosch F, Braun RB, Dobbie MS, Gao X, Herault Y, Moshiri A, Moore BA, Kent Lloyd KC, McKerlie C, Masuya H, Tanaka N, Flicek P, Parkinson HE, Sedlacek R, Seong JK, Wang CL, Moore M, Brown SD, Tschöp MH, Wurst W, Klingenspor M, Wolf E, Beckers J, Machicao F, Peter A, Staiger H, Häring HU, Grallert H, Campillos M, Maier H, Fuchs H, Gailus-Durner V, Werner T, Hrabe de Angelis M. Rozman J, et al. Nat Commun. 2018 Jan 18;9(1):288. doi: 10.1038/s41467-017-01995-2. Nat Commun. 2018. PMID: 29348434 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.
The role of sphingosine-1-phosphate transporter Spns2 in immune system function.
Nijnik A, Clare S, Hale C, Chen J, Raisen C, Mottram L, Lucas M, Estabel J, Ryder E, Adissu H; Sanger Mouse Genetics Project; Adams NC, Ramirez-Solis R, White JK, Steel KP, Dougan G, Hancock RE. Nijnik A, et al. J Immunol. 2012 Jul 1;189(1):102-11. doi: 10.4049/jimmunol.1200282. Epub 2012 Jun 4. J Immunol. 2012. PMID: 22664872 Free PMC article.
22 results