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Items: 1 to 50 of 62

1.

Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y; International Mouse Phenotyping Consortium, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Kent Lloyd KC, Murphy CJ, Moshiri A.

Commun Biol. 2019 Mar 7;2:97. doi: 10.1038/s42003-019-0349-y. eCollection 2019.

2.

Reduced lifespan of mice lacking catalase correlates with altered lipid metabolism without oxidative damage or premature aging.

Pérez-Estrada JR, Hernández-García D, Leyva-Castro F, Ramos-León J, Cuevas-Benítez O, Díaz-Muñoz M, Castro-Obregón S, Ramírez-Solís R, García C, Covarrubias L.

Free Radic Biol Med. 2019 May 1;135:102-115. doi: 10.1016/j.freeradbiomed.2019.02.016. Epub 2019 Feb 25.

PMID:
30818059
3.

Genome editing: A perspective on the application of CRISPR/Cas9 to study human diseases (Review).

Rodríguez-Rodríguez DR, Ramírez-Solís R, Garza-Elizondo MA, Garza-Rodríguez ML, Barrera-Saldaña HA.

Int J Mol Med. 2019 Apr;43(4):1559-1574. doi: 10.3892/ijmm.2019.4112. Epub 2019 Feb 26. Review.

4.

Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y; International Mouse Phenotyping Consortium, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Lloyd KCK, Murphy CJ, Moshiri A.

Commun Biol. 2018 Dec 21;1:236. doi: 10.1038/s42003-018-0226-0. eCollection 2018. Erratum in: Commun Biol. 2019 Mar 7;2:97.

5.

A synthesis approach of mouse studies to identify genes and proteins in arterial thrombosis and bleeding.

Baaten CCFMJ, Meacham S, de Witt SM, Feijge MAH, Adams DJ, Akkerman JN, Cosemans JMEM, Grassi L, Jupe S, Kostadima M, Mattheij NJA, Prins MH, Ramirez-Solis R, Soehnlein O, Swieringa F, Weber C, White JK, Ouwehand WH, Heemskerk JWM.

Blood. 2018 Dec 13;132(24):e35-e46. doi: 10.1182/blood-2018-02-831982. Epub 2018 Oct 1. Review.

PMID:
30275110
6.

Corrigendum: High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie Helmut Fuchs SM, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Nutter SNLMJ, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium, Wurst W, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SDM, Adams DJ, Lloyd KCK, McKerlie C, Beaudet AL, Murray MBSA.

Nature. 2017 Nov 16;551(7680):398. doi: 10.1038/nature24643. Epub 2017 Nov 8.

7.

Establishment of mouse expanded potential stem cells.

Yang J, Ryan DJ, Wang W, Tsang JC, Lan G, Masaki H, Gao X, Antunes L, Yu Y, Zhu Z, Wang J, Kolodziejczyk AA, Campos LS, Wang C, Yang F, Zhong Z, Fu B, Eckersley-Maslin MA, Woods M, Tanaka Y, Chen X, Wilkinson AC, Bussell J, White J, Ramirez-Solis R, Reik W, Göttgens B, Teichmann SA, Tam PPL, Nakauchi H, Zou X, Lu L, Liu P.

Nature. 2017 Oct 19;550(7676):393-397. doi: 10.1038/nature24052. Epub 2017 Oct 11.

8.

Prevalence of sexual dimorphism in mammalian phenotypic traits.

Karp NA, Mason J, Beaudet AL, Benjamini Y, Bower L, Braun RE, Brown SDM, Chesler EJ, Dickinson ME, Flenniken AM, Fuchs H, Angelis MH, Gao X, Guo S, Greenaway S, Heller R, Herault Y, Justice MJ, Kurbatova N, Lelliott CJ, Lloyd KCK, Mallon AM, Mank JE, Masuya H, McKerlie C, Meehan TF, Mott RF, Murray SA, Parkinson H, Ramirez-Solis R, Santos L, Seavitt JR, Smedley D, Sorg T, Speak AO, Steel KP, Svenson KL; International Mouse Phenotyping Consortium, Wakana S, West D, Wells S, Westerberg H, Yaacoby S, White JK.

Nat Commun. 2017 Jun 26;8:15475. doi: 10.1038/ncomms15475.

9.

TCTE1 is a conserved component of the dynein regulatory complex and is required for motility and metabolism in mouse spermatozoa.

Castaneda JM, Hua R, Miyata H, Oji A, Guo Y, Cheng Y, Zhou T, Guo X, Cui Y, Shen B, Wang Z, Hu Z, Zhou Z, Sha J, Prunskaite-Hyyrylainen R, Yu Z, Ramirez-Solis R, Ikawa M, Matzuk MM, Liu M.

Proc Natl Acad Sci U S A. 2017 Jul 3;114(27):E5370-E5378. doi: 10.1073/pnas.1621279114. Epub 2017 Jun 19.

10.

A staging system for correct phenotype interpretation of mouse embryos harvested on embryonic day 14 (E14.5).

Geyer SH, Reissig L, Rose J, Wilson R, Prin F, Szumska D, Ramirez-Solis R, Tudor C, White J, Mohun TJ, Weninger WJ.

J Anat. 2017 May;230(5):710-719. doi: 10.1111/joa.12590. Epub 2017 Feb 9.

11.

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.

Wilson R, Geyer SH, Reissig L, Rose J, Szumska D, Hardman E, Prin F, McGuire C, Ramirez-Solis R, White J, Galli A, Tudor C, Tuck E, Mazzeo CI, Smith JC, Robertson E, Adams DJ, Mohun T, Weninger WJ.

Wellcome Open Res. 2017 Feb 27;1:1. doi: 10.12688/wellcomeopenres.9899.2. eCollection 2016.

12.

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.

J Allergy Clin Immunol. 2017 Jul;140(1):273-277.e10. doi: 10.1016/j.jaci.2016.09.061. Epub 2016 Dec 10. No abstract available.

PMID:
27965109
13.

High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA.

Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14. Erratum in: Nature. 2017 Nov 16;551(7680):398.

14.

Genome engineering uncovers 54 evolutionarily conserved and testis-enriched genes that are not required for male fertility in mice.

Miyata H, Castaneda JM, Fujihara Y, Yu Z, Archambeault DR, Isotani A, Kiyozumi D, Kriseman ML, Mashiko D, Matsumura T, Matzuk RM, Mori M, Noda T, Oji A, Okabe M, Prunskaite-Hyyrylainen R, Ramirez-Solis R, Satouh Y, Zhang Q, Ikawa M, Matzuk MM.

Proc Natl Acad Sci U S A. 2016 Jul 12;113(28):7704-10. doi: 10.1073/pnas.1608458113. Epub 2016 Jun 29.

15.

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.

Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A.

Hum Mol Genet. 2016 Jan 15;25(2):291-307. doi: 10.1093/hmg/ddv471. Epub 2015 Nov 24.

16.

A gene expression resource generated by genome-wide lacZ profiling in the mouse.

Tuck E, Estabel J, Oellrich A, Maguire AK, Adissu HA, Souter L, Siragher E, Lillistone C, Green AL, Wardle-Jones H, Carragher DM, Karp NA, Smedley D, Adams NC; Sanger Institute Mouse Genetics Project, Bussell JN, Adams DJ, Ramírez-Solis R, Steel KP, Galli A, White JK.

Dis Model Mech. 2015 Nov;8(11):1467-78. doi: 10.1242/dmm.021238. Epub 2015 Aug 20.

17.

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

de Angelis MH, Nicholson G, Selloum M, White J, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl M, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, El Fertak L, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, Peter E, Petit-Demoulière B, Pickard A, Podrini C, Potter P, Pouilly L, Puk O, Richardson D, Rousseau S, Quintanilla-Fend L, Quwailid MM, Racz I, Rathkolb B, Riet F, Rossant J, Roux M, Rozman J, Ryder E, Salisbury J, Santos L, Schäble KH, Schiller E, Schrewe A, Schulz H, Steinkamp R, Simon M, Stewart M, Stöger C, Stöger T, Sun M, Sunter D, Teboul L, Tilly I, Tocchini-Valentini GP, Tost M, Treise I, Vasseur L, Velot E, Vogt-Weisenhorn D, Wagner C, Walling A, Weber B, Wendling O, Westerberg H, Willershäuser M, Wolf E, Wolter A, Wood J, Wurst W, Yildirim AÖ, Zeh R, Zimmer A, Zimprich A; EUMODIC Consortium, Holmes C, Steel KP, Herault Y, Gailus-Durner V, Mallon AM, Brown SD.

Nat Genet. 2015 Sep;47(9):969-978. doi: 10.1038/ng.3360. Epub 2015 Jul 27.

18.

Blastocyst genotyping for quality control of mouse mutant archives: an ethical and economical approach.

Scavizzi F, Ryder E, Newman S, Raspa M, Gleeson D, Wardle-Jones H, Montoliu L, Fernandez A, Dessain ML, Larrigaldie V, Khorshidi Z, Vuolteenaho R, Soininen R, André P, Jacquot S, Hong Y, de Angelis MH, Ramirez-Solis R, Doe B.

Transgenic Res. 2015 Oct;24(5):921-7. doi: 10.1007/s11248-015-9897-1. Epub 2015 Jul 16.

19.

Corrigendum to "Disruption of the potassium channel regulatory subunit KCNE2 causes iron-deficient anemia" [Experimental Hematology, Vol. 42, Issue 12, p1053-1058.e1].

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.

Exp Hematol. 2015 May;43(5):424. doi: 10.1016/j.exphem.2015.03.002. Epub 2015 Apr 1. No abstract available.

20.

Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.

DiTommaso T, Jones LK, Cottle DL; WTSI Mouse Genetics Program, Gerdin AK, Vancollie VE, Watt FM, Ramirez-Solis R, Bradley A, Steel KP, Sundberg JP, White JK, Smyth IM.

PLoS Genet. 2014 Oct 23;10(10):e1004705. doi: 10.1371/journal.pgen.1004705. eCollection 2014 Oct.

21.

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.

Exp Hematol. 2014 Dec;42(12):1053-8.e1. doi: 10.1016/j.exphem.2014.07.269. Epub 2014 Aug 12. Erratum in: Exp Hematol. 2015 May;43(5):424. Exp Hematol. 2015 May;43(5):424.

22.

Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.

Liakath-Ali K, Vancollie VE, Heath E, Smedley DP, Estabel J, Sunter D, Ditommaso T, White JK, Ramirez-Solis R, Smyth I, Steel KP, Watt FM.

Nat Commun. 2014 Apr 11;5:3540. doi: 10.1038/ncomms4540.

23.

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.

PLoS One. 2014 Mar 18;9(3):e91807. doi: 10.1371/journal.pone.0091807. eCollection 2014.

24.

Rapid conversion of EUCOMM/KOMP-CSD alleles in mouse embryos using a cell-permeable Cre recombinase.

Ryder E, Doe B, Gleeson D, Houghton R, Dalvi P, Grau E, Habib B, Miklejewska E, Newman S, Sethi D, Sinclair C, Vyas S, Wardle-Jones H; Sanger Mouse Genetics Project, Bottomley J, Bussell J, Galli A, Salisbury J, Ramirez-Solis R.

Transgenic Res. 2014 Feb;23(1):177-85. doi: 10.1007/s11248-013-9764-x. Epub 2013 Nov 7.

25.

Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource.

Ryder E, Gleeson D, Sethi D, Vyas S, Miklejewska E, Dalvi P, Habib B, Cook R, Hardy M, Jhaveri K, Bottomley J, Wardle-Jones H, Bussell JN, Houghton R, Salisbury J, Skarnes WC; Sanger Mouse Genetics Project, Ramirez-Solis R.

Mamm Genome. 2013 Aug;24(7-8):286-94. doi: 10.1007/s00335-013-9467-x. Epub 2013 Aug 4.

26.

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.

Simon MM, Greenaway S, White JK, Fuchs H, Gailus-Durner V, Wells S, Sorg T, Wong K, Bedu E, Cartwright EJ, Dacquin R, Djebali S, Estabel J, Graw J, Ingham NJ, Jackson IJ, Lengeling A, Mandillo S, Marvel J, Meziane H, Preitner F, Puk O, Roux M, Adams DJ, Atkins S, Ayadi A, Becker L, Blake A, Brooker D, Cater H, Champy MF, Combe R, Danecek P, di Fenza A, Gates H, Gerdin AK, Golini E, Hancock JM, Hans W, Hölter SM, Hough T, Jurdic P, Keane TM, Morgan H, Müller W, Neff F, Nicholson G, Pasche B, Roberson LA, Rozman J, Sanderson M, Santos L, Selloum M, Shannon C, Southwell A, Tocchini-Valentini GP, Vancollie VE, Westerberg H, Wurst W, Zi M, Yalcin B, Ramirez-Solis R, Steel KP, Mallon AM, de Angelis MH, Herault Y, Brown SD.

Genome Biol. 2013 Jul 31;14(7):R82. doi: 10.1186/gb-2013-14-7-r82.

27.

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.

Cell. 2013 Jul 18;154(2):452-64. doi: 10.1016/j.cell.2013.06.022.

28.

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.

Mamm Genome. 2013 Jun;24(5-6):240-51. doi: 10.1007/s00335-013-9456-0. Epub 2013 May 28.

29.

Genomic analysis of a novel spontaneous albino C57BL/6N mouse strain.

Ryder E, Wong K, Gleeson D, Keane TM, Sethi D, Vyas S, Wardle-Jones H, Bussell JN, Houghton R, Salisbury J, Harvey N, Adams DJ; Sanger Mouse Genetics Project, Ramirez-Solis R.

Genesis. 2013 Jul;51(7):523-8. doi: 10.1002/dvg.22398. Epub 2013 May 25.

30.

Seventy-five genetic loci influencing the human red blood cell.

van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss K, Weichenberger CX, Albers CA, Al-Hussani A, Asselbergs FW, Ciullo M, Danjou F, Dina C, Esko T, Evans DM, Franke L, Gögele M, Hartiala J, Hersch M, Holm H, Hottenga JJ, Kanoni S, Kleber ME, Lagou V, Langenberg C, Lopez LM, Lyytikäinen LP, Melander O, Murgia F, Nolte IM, O'Reilly PF, Padmanabhan S, Parsa A, Pirastu N, Porcu E, Portas L, Prokopenko I, Ried JS, Shin SY, Tang CS, Teumer A, Traglia M, Ulivi S, Westra HJ, Yang J, Zhao JH, Anni F, Abdellaoui A, Attwood A, Balkau B, Bandinelli S, Bastardot F, Benyamin B, Boehm BO, Cookson WO, Das D, de Bakker PI, de Boer RA, de Geus EJ, de Moor MH, Dimitriou M, Domingues FS, Döring A, Engström G, Eyjolfsson GI, Ferrucci L, Fischer K, Galanello R, Garner SF, Genser B, Gibson QD, Girotto G, Gudbjartsson DF, Harris SE, Hartikainen AL, Hastie CE, Hedblad B, Illig T, Jolley J, Kähönen M, Kema IP, Kemp JP, Liang L, Lloyd-Jones H, Loos RJ, Meacham S, Medland SE, Meisinger C, Memari Y, Mihailov E, Miller K, Moffatt MF, Nauck M, Novatchkova M, Nutile T, Olafsson I, Onundarson PT, Parracciani D, Penninx BW, Perseu L, Piga A, Pistis G, Pouta A, Puc U, Raitakari O, Ring SM, Robino A, Ruggiero D, Ruokonen A, Saint-Pierre A, Sala C, Salumets A, Sambrook J, Schepers H, Schmidt CO, Silljé HH, Sladek R, Smit JH, Starr JM, Stephens J, Sulem P, Tanaka T, Thorsteinsdottir U, Tragante V, van Gilst WH, van Pelt LJ, van Veldhuisen DJ, Völker U, Whitfield JB, Willemsen G, Winkelmann BR, Wirnsberger G, Algra A, Cucca F, d'Adamo AP, Danesh J, Deary IJ, Dominiczak AF, Elliott P, Fortina P, Froguel P, Gasparini P, Greinacher A, Hazen SL, Jarvelin MR, Khaw KT, Lehtimäki T, Maerz W, Martin NG, Metspalu A, Mitchell BD, Montgomery GW, Moore C, Navis G, Pirastu M, Pramstaller PP, Ramirez-Solis R, Schadt E, Scott J, Shuldiner AR, Smith GD, Smith JG, Snieder H, Sorice R, Spector TD, Stefansson K, Stumvoll M, Tang WH, Toniolo D, Tönjes A, Visscher PM, Vollenweider P, Wareham NJ, Wolffenbuttel BH, Boomsma DI, Beckmann JS, Dedoussis GV, Deloukas P, Ferreira MA, Sanna S, Uda M, Hicks AA, Penninger JM, Gieger C, Kooner JS, Ouwehand WH, Soranzo N, Chambers JC.

Nature. 2012 Dec 20;492(7429):369-75. doi: 10.1038/nature11677. Epub 2012 Dec 5.

31.

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.

Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29.

32.

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.

PLoS Genet. 2012;8(11):e1003022. doi: 10.1371/journal.pgen.1003022. Epub 2012 Nov 15.

33.

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.

Mamm Genome. 2012 Oct;23(9-10):580-6. doi: 10.1007/s00335-012-9422-2. Epub 2012 Sep 12.

34.

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.

Mamm Genome. 2012 Oct;23(9-10):600-10. doi: 10.1007/s00335-012-9418-y. Epub 2012 Sep 9. Review.

35.

Large-scale mouse knockouts and phenotypes.

Ramírez-Solis R, Ryder E, Houghton R, White JK, Bottomley J.

Wiley Interdiscip Rev Syst Biol Med. 2012 Nov-Dec;4(6):547-63. doi: 10.1002/wsbm.1183. Epub 2012 Aug 15. Review.

PMID:
22899600
36.

Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength.

Bassett JH, Gogakos A, White JK, Evans H, Jacques RM, van der Spek AH; Sanger Mouse Genetics Project, Ramirez-Solis R, Ryder E, Sunter D, Boyde A, Campbell MJ, Croucher PI, Williams GR.

PLoS Genet. 2012;8(8):e1002858. doi: 10.1371/journal.pgen.1002858. Epub 2012 Aug 2.

37.

The fallacy of ratio correction to address confounding factors.

Karp NA, Segonds-Pichon A, Gerdin AK, Ramírez-Solis R, White JK.

Lab Anim. 2012 Jul;46(3):245-52. doi: 10.1258/la.2012.012003.

38.

Experimental and husbandry procedures as potential modifiers of the results of phenotyping tests.

Gerdin AK, Igosheva N, Roberson LA, Ismail O, Karp N, Sanderson M, Cambridge E, Shannon C, Sunter D, Ramirez-Solis R, Bussell J, White JK.

Physiol Behav. 2012 Jul 16;106(5):602-11. doi: 10.1016/j.physbeh.2012.03.026.

39.

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.

J Immunol. 2012 Jul 1;189(1):102-11. doi: 10.4049/jimmunol.1200282. Epub 2012 Jun 4.

40.

The critical role of histone H2A-deubiquitinase Mysm1 in hematopoiesis and lymphocyte differentiation.

Nijnik A, Clare S, Hale C, Raisen C, McIntyre RE, Yusa K, Everitt AR, Mottram L, Podrini C, Lucas M, Estabel J, Goulding D; Sanger Institute Microarray Facility; Sanger Mouse Genetics Project, Adams N, Ramirez-Solis R, White JK, Adams DJ, Hancock RE, Dougan G.

Blood. 2012 Feb 9;119(6):1370-9. doi: 10.1182/blood-2011-05-352666. Epub 2011 Dec 19.

PMID:
22184403
41.

New gene functions in megakaryopoiesis and platelet formation.

Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R, Meacham S, Okada Y, Pirastu N, Sorice R, Teumer A, Voss K, Zhang W, Ramirez-Solis R, Bis JC, Ellinghaus D, Gögele M, Hottenga JJ, Langenberg C, Kovacs P, O'Reilly PF, Shin SY, Esko T, Hartiala J, Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, Ellen van der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S, Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers JC, Cucca F, D'Adamo P, Davies G, de Boer RA, de Geus EJ, Döring A, Elliott P, Erdmann J, Evans DM, Falchi M, Feng W, Folsom AR, Frazer IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR, Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT, Kühnel B, Kyrtsonis MC, Lagou V, Lloyd-Jones H, Lumley T, Mangino M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD, Montgomery GW, Nakamura Y, Nauck M, Navis G, Nöthlings U, Nolte IM, Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI, Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM, Stumvoll M, Takahashi A, Tang WH, Taylor K, Tenesa A, Lay Thein S, Tönjes A, Uda M, Ulivi S, van Veldhuisen DJ, Visscher PM, Völker U, Wichmann HE, Wiggins KL, Willemsen G, Yang TP, Hua Zhao J, Zitting P, Bradley JR, Dedoussis GV, Gasparini P, Hazen SL, Metspalu A, Pirastu M, Shuldiner AR, Joost van Pelt L, Zwaginga JJ, Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L, Sanna S, Hicks AA, Rendon A, Ferreira MA, Ouwehand WH, Soranzo N.

Nature. 2011 Nov 30;480(7376):201-8. doi: 10.1038/nature10659.

42.

Optimising experimental design for high-throughput phenotyping in mice: a case study.

Karp NA, Baker LA, Gerdin AK, Adams NC, Ramírez-Solis R, White JK.

Mamm Genome. 2010 Oct;21(9-10):467-76. doi: 10.1007/s00335-010-9279-1. Epub 2010 Aug 27.

43.

Phenotypic characterization of epiphycan-deficient and epiphycan/biglycan double-deficient mice.

Nuka S, Zhou W, Henry SP, Gendron CM, Schultz JB, Shinomura T, Johnson J, Wang Y, Keene DR, Ramírez-Solis R, Behringer RR, Young MF, Höök M.

Osteoarthritis Cartilage. 2010 Jan;18(1):88-96. doi: 10.1016/j.joca.2009.11.006. Epub 2009 Nov 18.

44.

Analysis of HSC activity and compensatory Hox gene expression profile in Hoxb cluster mutant fetal liver cells.

Bijl J, Thompson A, Ramirez-Solis R, Krosl J, Grier DG, Lawrence HJ, Sauvageau G.

Blood. 2006 Jul 1;108(1):116-22. Epub 2005 Dec 8.

45.

High-throughput mouse knockouts provide a functional analysis of the genome.

Friddle CJ, Abuin A, Ramirez-Solis R, Richter LJ, Buxton EC, Edwards J, Finch RA, Gupta A, Hansen G, Holt KH, Hu Y, Huang W, Jaing C, Key BW Jr, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Newhouse M, Perry T, Platt KA, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Tran D, Wann ER, Walke W, Wallace JD, Xu N, Zhu Q, Person C, Sands AT, Zambrowicz BP.

Cold Spring Harb Symp Quant Biol. 2003;68:311-5. No abstract available.

PMID:
15338631
47.

Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.

Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A, Hansen G, Hu Y, Huang W, Jaing C, Key BW Jr, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Payne R, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Van Sligtenhorst I, Vogel P, Walke W, Xu N, Zhu Q, Person C, Sands AT.

Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14. Epub 2003 Nov 10.

48.

mdmx is a negative regulator of p53 activity in vivo.

Finch RA, Donoviel DB, Potter D, Shi M, Fan A, Freed DD, Wang CY, Zambrowicz BP, Ramirez-Solis R, Sands AT, Zhang N.

Cancer Res. 2002 Jun 1;62(11):3221-5.

49.

Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN.

Donoviel DB, Freed DD, Vogel H, Potter DG, Hawkins E, Barrish JP, Mathur BN, Turner CA, Geske R, Montgomery CA, Starbuck M, Brandt M, Gupta A, Ramirez-Solis R, Zambrowicz BP, Powell DR.

Mol Cell Biol. 2001 Jul;21(14):4829-36.

50.

A large targeted deletion of Hoxb1-Hoxb9 produces a series of single-segment anterior homeotic transformations.

Medina-Martínez O, Bradley A, Ramírez-Solis R.

Dev Biol. 2000 Jun 1;222(1):71-83.

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