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Results: 1 to 20 of 97

1.

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Norsworthy PJ, Vandrovcova J, Thomas ER, Campbell A, Kerr SM, Biggs J, Game L, Soutar AK, Smith BH, Dominiczak AF, Porteous DJ, Morris AD, Scotland G, Aitman TJ.

BMC Med Genet. 2014 Jun 23;15:70. doi: 10.1186/1471-2350-15-70.

PMID:
24956927
[PubMed - in process]
Free PMC Article
2.

Pillars article: genetic analysis of autoimmune type 1 diabetes mellitus in mice. Nature. 1991. 351: 542-547.

Todd JA, Aitman TJ, Cornall RJ, Ghosh S, Hall JR, Hearne CM, Knight AM, Love JM, McAleer MA, Prins JB, Rodrigues N, Lathrop M, Pressey A, DeLarato NH, Peterson LB, Wicker LS.

J Immunol. 2014 Jul 1;193(1):7-12. No abstract available.

PMID:
24951822
[PubMed - in process]
3.

Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases.

Roberts AL, Thomas ER, Bhosle S, Game L, Obraztsova O, Aitman TJ, Vyse TJ, Rhodes B.

Arthritis Res Ther. 2014 May 21;16(3):R114. [Epub ahead of print]

PMID:
24886912
[PubMed - as supplied by publisher]
Free PMC Article
4.

Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome.

Ma MC, Atanur SS, Aitman TJ, Kwitek AE.

BMC Genomics. 2014 Mar 14;15:197. doi: 10.1186/1471-2164-15-197.

PMID:
24628878
[PubMed - in process]
Free PMC Article
5.

Natural polymorphisms in Tap2 influence negative selection and CD4∶CD8 lineage commitment in the rat.

Tuncel J, Haag S, Yau AC, Norin U, Baud A, Lönnblom E, Maratou K, Ytterberg AJ, Ekman D, Thordardottir S, Johannesson M, Gillett A; EURATRANS Consortium, Stridh P, Jagodic M, Olsson T, Fernández-Teruel A, Zubarev RA, Mott R, Aitman TJ, Flint J, Holmdahl R.

PLoS Genet. 2014 Feb 20;10(2):e1004151. doi: 10.1371/journal.pgen.1004151. eCollection 2014 Feb.

PMID:
24586191
[PubMed - in process]
Free PMC Article
6.

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Thomas ER, Atanur SS, Norsworthy PJ, Encheva V, Snijders AP, Game L, Vandrovcova J, Siddiq A, Seed M, Soutar AK, Aitman TJ.

Mol Genet Genomic Med. 2013 Sep;1(3):155-61. doi: 10.1002/mgg3.17. Epub 2013 Jun 13.

PMID:
24498611
[PubMed]
Free PMC Article
7.

Familial hypercholesterolaemia: a pressing issue for European health care.

Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ.

Atherosclerosis. 2013 Dec;231(2):223-6. doi: 10.1016/j.atherosclerosis.2013.09.019. Epub 2013 Oct 2.

PMID:
24267231
[PubMed - in process]
8.

JunD/AP1 regulatory network analysis during macrophage activation in a rat model of crescentic glomerulonephritis.

Srivastava PK, Hull RP, Behmoaras J, Petretto E, Aitman TJ.

BMC Syst Biol. 2013 Sep 22;7:93. doi: 10.1186/1752-0509-7-93.

PMID:
24053712
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Experimental crescentic glomerulonephritis: a new bicongenic rat model.

D'Souza Z, McAdoo SP, Smith J, Pusey CD, Cook HT, Behmoaras J, Aitman TJ.

Dis Model Mech. 2013 Nov;6(6):1477-86. doi: 10.1242/dmm.012328. Epub 2013 Aug 15.

PMID:
24046355
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Atanur SS, Diaz AG, Maratou K, Sarkis A, Rotival M, Game L, Tschannen MR, Kaisaki PJ, Otto GW, Ma MC, Keane TM, Hummel O, Saar K, Chen W, Guryev V, Gopalakrishnan K, Garrett MR, Joe B, Citterio L, Bianchi G, McBride M, Dominiczak A, Adams DJ, Serikawa T, Flicek P, Cuppen E, Hubner N, Petretto E, Gauguier D, Kwitek A, Jacob H, Aitman TJ.

Cell. 2013 Aug 1;154(3):691-703. doi: 10.1016/j.cell.2013.06.040. Epub 2013 Jul 25.

PMID:
23890820
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Isolation and high-throughput sequencing of two closely linked epistatic hypertension susceptibility loci with a panel of bicongenic strains.

Pillai R, Waghulde H, Nie Y, Gopalakrishnan K, Kumarasamy S, Farms P, Garrett MR, Atanur SS, Maratou K, Aitman TJ, Joe B.

Physiol Genomics. 2013 Aug 15;45(16):729-36. doi: 10.1152/physiolgenomics.00077.2013. Epub 2013 Jun 11.

PMID:
23757393
[PubMed - indexed for MEDLINE]
12.

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, Müller M, Aitman TJ, Roberts I, de la Fuente J, Foroni L, Karadimitris A.

Br J Haematol. 2013 Aug;162(4):530-6. doi: 10.1111/bjh.12397. Epub 2013 May 30.

PMID:
23718193
[PubMed - indexed for MEDLINE]
13.

Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.

Rat Genome Sequencing and Mapping Consortium, Baud A, Hermsen R, Guryev V, Stridh P, Graham D, McBride MW, Foroud T, Calderari S, Diez M, Ockinger J, Beyeen AD, Gillett A, Abdelmagid N, Guerreiro-Cacais AO, Jagodic M, Tuncel J, Norin U, Beattie E, Huynh N, Miller WH, Koller DL, Alam I, Falak S, Osborne-Pellegrin M, Martinez-Membrives E, Canete T, Blazquez G, Vicens-Costa E, Mont-Cardona C, Diaz-Moran S, Tobena A, Hummel O, Zelenika D, Saar K, Patone G, Bauerfeind A, Bihoreau MT, Heinig M, Lee YA, Rintisch C, Schulz H, Wheeler DA, Worley KC, Muzny DM, Gibbs RA, Lathrop M, Lansu N, Toonen P, Ruzius FP, de Bruijn E, Hauser H, Adams DJ, Keane T, Atanur SS, Aitman TJ, Flicek P, Malinauskas T, Jones EY, Ekman D, Lopez-Aumatell R, Dominiczak AF, Johannesson M, Holmdahl R, Olsson T, Gauguier D, Hubner N, Fernandez-Teruel A, Cuppen E, Mott R, Flint J.

Nat Genet. 2013 Jul;45(7):767-75. doi: 10.1038/ng.2644. Epub 2013 May 26.

PMID:
23708188
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J, Thomas ER, Atanur SS, Norsworthy PJ, Neuwirth C, Tan Y, Kasperaviciute D, Biggs J, Game L, Mueller M, Soutar AK, Aitman TJ.

Genet Med. 2013 Dec;15(12):948-57. doi: 10.1038/gim.2013.55. Epub 2013 May 16.

PMID:
23680767
[PubMed - indexed for MEDLINE]
15.

Systematic biases in DNA copy number originate from isolation procedures.

van Heesch S, Mokry M, Boskova V, Junker W, Mehon R, Toonen P, de Bruijn E, Shull JD, Aitman TJ, Cuppen E, Guryev V.

Genome Biol. 2013 Apr 24;14(4):R33. [Epub ahead of print]

PMID:
23618369
[PubMed - as supplied by publisher]
Free PMC Article
16.

Combined ChIP-Seq and transcriptome analysis identifies AP-1/JunD as a primary regulator of oxidative stress and IL-1β synthesis in macrophages.

Hull RP, Srivastava PK, D'Souza Z, Atanur SS, Mechta-Grigoriou F, Game L, Petretto E, Cook HT, Aitman TJ, Behmoaras J.

BMC Genomics. 2013 Feb 11;14:92. doi: 10.1186/1471-2164-14-92.

PMID:
23398888
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus.

Mueller M, Barros P, Witherden AS, Roberts AL, Zhang Z, Schaschl H, Yu CY, Hurles ME, Schaffner C, Floto RA, Game L, Steinberg KM, Wilson RK, Graves TA, Eichler EE, Cook HT, Vyse TJ, Aitman TJ.

Am J Hum Genet. 2013 Jan 10;92(1):28-40. doi: 10.1016/j.ajhg.2012.11.013. Epub 2012 Dec 20.

PMID:
23261299
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Systems-level approaches reveal conservation of trans-regulated genes in the rat and genetic determinants of blood pressure in humans.

Langley SR, Bottolo L, Kunes J, Zicha J, Zidek V, Hubner N, Cook SA, Pravenec M, Aitman TJ, Petretto E.

Cardiovasc Res. 2013 Mar 15;97(4):653-65. doi: 10.1093/cvr/cvs329. Epub 2012 Oct 31.

PMID:
23118132
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Single nucleotide analysis of cytosine methylation by whole-genome shotgun bisulfite sequencing.

Johnson MD, Mueller M, Game L, Aitman TJ.

Curr Protoc Mol Biol. 2012 Jul;Chapter 21:Unit21.23. doi: 10.1002/0471142727.mb2123s99.

PMID:
22870857
[PubMed - indexed for MEDLINE]
20.

Genetic basis of transcriptome differences between the founder strains of the rat HXB/BXH recombinant inbred panel.

Simonis M, Atanur SS, Linsen S, Guryev V, Ruzius FP, Game L, Lansu N, de Bruijn E, van Heesch S, Jones SJ, Pravenec M, Aitman TJ, Cuppen E.

Genome Biol. 2012 Apr 27;13(4):r31. doi: 10.1186/gb-2012-13-4-r31.

PMID:
22541052
[PubMed - indexed for MEDLINE]
Free PMC Article

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