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Items: 1 to 20 of 108

1.

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ.

Genet Med. 2016 Mar 24. doi: 10.1038/gim.2016.14. [Epub ahead of print]

PMID:
27011056
2.

Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.

Thompson GR, Seed M, Naoumova RP, Neuwirth C, Walji S, Aitman TJ, Scott J, Myant NB, Soutar AK.

Atherosclerosis. 2015 Nov;243(1):328-33. doi: 10.1016/j.atherosclerosis.2015.09.029. Epub 2015 Sep 28.

PMID:
26433113
3.

The zinc transporter ZIP12 regulates the pulmonary vascular response to chronic hypoxia.

Zhao L, Oliver E, Maratou K, Atanur SS, Dubois OD, Cotroneo E, Chen CN, Wang L, Arce C, Chabosseau PL, Ponsa-Cobas J, Frid MG, Moyon B, Webster Z, Aldashev A, Ferrer J, Rutter GA, Stenmark KR, Aitman TJ, Wilkins MR.

Nature. 2015 Aug 20;524(7565):356-60. doi: 10.1038/nature14620. Epub 2015 Aug 10.

PMID:
26258299
4.

Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study.

Chambers JC, Loh M, Lehne B, Drong A, Kriebel J, Motta V, Wahl S, Elliott HR, Rota F, Scott WR, Zhang W, Tan ST, Campanella G, Chadeau-Hyam M, Yengo L, Richmond RC, Adamowicz-Brice M, Afzal U, Bozaoglu K, Mok ZY, Ng HK, Pattou F, Prokisch H, Rozario MA, Tarantini L, Abbott J, Ala-Korpela M, Albetti B, Ammerpohl O, Bertazzi PA, Blancher C, Caiazzo R, Danesh J, Gaunt TR, de Lusignan S, Gieger C, Illig T, Jha S, Jones S, Jowett J, Kangas AJ, Kasturiratne A, Kato N, Kotea N, Kowlessur S, Pitkäniemi J, Punjabi P, Saleheen D, Schafmayer C, Soininen P, Tai ES, Thorand B, Tuomilehto J, Wickremasinghe AR, Kyrtopoulos SA, Aitman TJ, Herder C, Hampe J, Cauchi S, Relton CL, Froguel P, Soong R, Vineis P, Jarvelin MR, Scott J, Grallert H, Bollati V, Elliott P, McCarthy MI, Kooner JS.

Lancet Diabetes Endocrinol. 2015 Jul;3(7):526-34. doi: 10.1016/S2213-8587(15)00127-8. Epub 2015 Jun 18.

5.

Macrophage epoxygenase determines a profibrotic transcriptome signature.

Behmoaras J, Diaz AG, Venda L, Ko JH, Srivastava P, Montoya A, Faull P, Webster Z, Moyon B, Pusey CD, Abraham DJ, Petretto E, Cook TH, Aitman TJ.

J Immunol. 2015 May 15;194(10):4705-16. doi: 10.4049/jimmunol.1402979. Epub 2015 Apr 3.

6.

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Williams EL, Bagg EA, Mueller M, Vandrovcova J, Aitman TJ, Rumsby G.

Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118.

7.

Systems biology with high-throughput sequencing reveals genetic mechanisms underlying the metabolic syndrome in the Lyon hypertensive rat.

Wang J, Ma MC, Mennie AK, Pettus JM, Xu Y, Lin L, Traxler MG, Jakoubek J, Atanur SS, Aitman TJ, Xing Y, Kwitek AE.

Circ Cardiovasc Genet. 2015 Apr;8(2):316-26. doi: 10.1161/CIRCGENETICS.114.000520. Epub 2015 Jan 8.

8.

Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease.

Johnson MD, Mueller M, Adamowicz-Brice M, Collins MJ, Gellert P, Maratou K, Srivastava PK, Rotival M, Butt S, Game L, Atanur SS, Silver N, Norsworthy PJ, Langley SR, Petretto E, Pravenec M, Aitman TJ.

PLoS Genet. 2014 Dec 4;10(12):e1004813. doi: 10.1371/journal.pgen.1004813. eCollection 2014 Dec.

9.

α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

Wilkins MR, Aldashev AA, Wharton J, Rhodes CJ, Vandrovcova J, Kasperaviciute D, Bhosle SG, Mueller M, Geschka S, Rison S, Kojonazarov B, Morrell NW, Neidhardt I, Surmeli NB, Aitman TJ, Stasch JP, Behrends S, Marletta MA.

Circ Cardiovasc Genet. 2014 Dec;7(6):920-9. doi: 10.1161/CIRCGENETICS.114.000763. Epub 2014 Nov 4. Erratum in: Circ Cardiovasc Genet. 2015 Feb;8(1):244. Surmeli, Nur Basek [corrected to Surmeli, Nur Basak].

10.

Kcnn4 is a regulator of macrophage multinucleation in bone homeostasis and inflammatory disease.

Kang H, Kerloc'h A, Rotival M, Xu X, Zhang Q, D'Souza Z, Kim M, Scholz JC, Ko JH, Srivastava PK, Genzen JR, Cui W, Aitman TJ, Game L, Melvin JE, Hanidu A, Dimock J, Zheng J, Souza D, Behera AK, Nabozny G, Cook HT, Bassett JH, Williams GR, Li J, Vignery A, Petretto E, Behmoaras J.

Cell Rep. 2014 Aug 21;8(4):1210-24. doi: 10.1016/j.celrep.2014.07.032. Epub 2014 Aug 14.

11.

The South Asian genome.

Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, Tan ST, Afzal U, Afaq S, Loh M, Lehne B, O'Reilly P, Gaulton KJ, Pearson RD, Li X, Lavery A, Vandrovcova J, Wass MN, Miller K, Sehmi J, Oozageer L, Kooner IK, Al-Hussaini A, Mills R, Grewal J, Panoulas V, Lewin AM, Northwood K, Wander GS, Geoghegan F, Li Y, Wang J, Aitman TJ, McCarthy MI, Scott J, Butcher S, Elliott P, Kooner JS.

PLoS One. 2014 Aug 12;9(8):e102645. doi: 10.1371/journal.pone.0102645. eCollection 2014.

12.

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.

13.

Genetic analysis of autoimmune type 1 diabetes mellitus in mice. 1991.

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.

14.

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. doi: 10.1186/ar4566.

15.

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.

16.

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.

17.

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.

18.

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
19.

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.

20.

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.

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