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Large-scale mouse knockouts and phenotypes.
Ramírez-Solis R, Ryder E, Houghton R, White JK, Bottomley J. Ramírez-Solis R, et al. Wiley Interdiscip Rev Syst Biol Med. 2012 Nov-Dec;4(6):547-63. doi: 10.1002/wsbm.1183. Epub 2012 Aug 15. Wiley Interdiscip Rev Syst Biol Med. 2012. PMID: 22899600 Review.
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.
Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project.
Ayadi A, Birling MC, Bottomley J, Bussell J, Fuchs H, Fray M, Gailus-Durner V, Greenaway S, Houghton R, Karp N, Leblanc S, Lengger C, Maier H, Mallon AM, Marschall S, Melvin D, Morgan H, Pavlovic G, Ryder E, Skarnes WC, Selloum M, Ramirez-Solis R, Sorg T, Teboul L, Vasseur L, Walling A, Weaver T, Wells S, White JK, Bradley A, Adams DJ, Steel KP, Hrabě de Angelis M, Brown SD, Herault Y. Ayadi A, et al. Mamm Genome. 2012 Oct;23(9-10):600-10. doi: 10.1007/s00335-012-9418-y. Epub 2012 Sep 9. Mamm Genome. 2012. PMID: 22961258 Free PMC article. Review.
The mammalian gene function resource: the International Knockout Mouse Consortium.
Bradley A, Anastassiadis K, Ayadi A, Battey JF, Bell C, Birling MC, Bottomley J, Brown SD, Bürger A, Bult CJ, Bushell W, Collins FS, Desaintes C, Doe B, Economides A, Eppig JT, Finnell RH, Fletcher C, Fray M, Frendewey D, Friedel RH, Grosveld FG, Hansen J, Hérault Y, Hicks G, Hörlein A, Houghton R, Hrabé de Angelis M, Huylebroeck D, Iyer V, de Jong PJ, Kadin JA, Kaloff C, Kennedy K, Koutsourakis M, Lloyd KC, Marschall S, Mason J, McKerlie C, McLeod MP, von Melchner H, Moore M, Mujica AO, Nagy A, Nefedov M, Nutter LM, Pavlovic G, Peterson JL, Pollock J, Ramirez-Solis R, Rancourt DE, Raspa M, Remacle JE, Ringwald M, Rosen B, Rosenthal N, Rossant J, Ruiz Noppinger P, Ryder E, Schick JZ, Schnütgen F, Schofield P, Seisenberger C, Selloum M, Simpson EM, Skarnes WC, Smedley D, Stanford WL, Stewart AF, Stone K, Swan K, Tadepally H, Teboul L, Tocchini-Valentini GP, Valenzuela D, West AP, Yamamura K, Yoshinaga Y, Wurst W. Bradley A, et al. Mamm Genome. 2012 Oct;23(9-10):580-6. doi: 10.1007/s00335-012-9422-2. Epub 2012 Sep 12. Mamm Genome. 2012. PMID: 22968824 Free PMC article.
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.
McIntyre RE, Lakshminarasimhan Chavali P, Ismail O, Carragher DM, Sanchez-Andrade G, Forment JV, Fu B, Del Castillo Velasco-Herrera M, Edwards A, van der Weyden L, Yang F; Sanger Mouse Genetics Project; Ramirez-Solis R, Estabel J, Gallagher FA, Logan DW, Arends MJ, Tsang SH, Mahajan VB, Scudamore CL, White JK, Jackson SP, Gergely F, Adams DJ. McIntyre RE, et al. PLoS Genet. 2012;8(11):e1003022. doi: 10.1371/journal.pgen.1003022. Epub 2012 Nov 15. PLoS Genet. 2012. PMID: 23166506 Free PMC article.
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Basel-Vanagaite L, et al. Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29. Am J Hum Genet. 2012. PMID: 23200864 Free PMC article.
76 results