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397 results

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Page 1
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sanchez-Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PH, Collins P, Curry N, Grimley C, James B, Makris M, Motwani J, Pavord S, Talks K, Thachil J, Wilde J, Williams M, Harrison P, Gissen P, Mundell S, Mumford A, Daly ME, Watson SP, Morgan NV; UK GAPP Study Group. Johnson B, et al. Among authors: leo v. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Stockley J, Morgan NV, Bem D, Lowe GC, Lordkipanidzé M, Dawood B, Simpson MA, Macfarlane K, Horner K, Leo VC, Talks K, Motwani J, Wilde JT, Collins PW, Makris M, Watson SP, Daly ME; UK Genotyping and Phenotyping of Platelets Study Group. Stockley J, et al. Among authors: leo vc. Blood. 2013 Dec 12;122(25):4090-3. doi: 10.1182/blood-2013-06-506873. Epub 2013 Oct 7. Blood. 2013. PMID: 24100448 Free PMC article. Clinical Trial.
Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.
Lordkipanidzé M, Lowe GC, Kirkby NS, Chan MV, Lundberg MH, Morgan NV, Bem D, Nisar SP, Leo VC, Jones ML, Mundell SJ, Daly ME, Mumford AD, Warner TD, Watson SP; UK Genotyping and Phenotyping of Platelets Study Group. Lordkipanidzé M, et al. Among authors: leo vc. Blood. 2014 Feb 20;123(8):e11-22. doi: 10.1182/blood-2013-08-520387. Epub 2014 Jan 9. Blood. 2014. PMID: 24408324 Free PMC article.
Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.
Stockley J, Nisar SP, Leo VC, Sabi E, Cunningham MR, Eikenboom JC, Lethagen S, Schneppenheim R, Goodeve AC, Watson SP, Mundell SJ, Daly ME; GAPP Study in Collaboration with the MCMDM-1VWD Study Group. Stockley J, et al. PLoS One. 2015 Dec 2;10(12):e0143913. doi: 10.1371/journal.pone.0143913. eCollection 2015. PLoS One. 2015. PMID: 26630678 Free PMC article.
Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure.
Cahill TJ, Leo V, Kelly M, Stockenhuber A, Kennedy NW, Bao L, Cereghetti GM, Harper AR, Czibik G, Liao C, Bellahcene M, Steeples V, Ghaffari S, Yavari A, Mayer A, Poulton J, Ferguson DJ, Scorrano L, Hettiarachchi NT, Peers C, Boyle J, Hill RB, Simmons A, Watkins H, Dear TN, Ashrafian H. Cahill TJ, et al. Among authors: leo v. J Biol Chem. 2015 Oct 23;290(43):25907-19. doi: 10.1074/jbc.M115.665695. Epub 2015 Sep 14. J Biol Chem. 2015. PMID: 26370078 Free PMC article.
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
Ashrafian H, Docherty L, Leo V, Towlson C, Neilan M, Steeples V, Lygate CA, Hough T, Townsend S, Williams D, Wells S, Norris D, Glyn-Jones S, Land J, Barbaric I, Lalanne Z, Denny P, Szumska D, Bhattacharya S, Griffin JL, Hargreaves I, Fernandez-Fuentes N, Cheeseman M, Watkins H, Dear TN. Ashrafian H, et al. Among authors: leo v. PLoS Genet. 2010 Jun 24;6(6):e1001000. doi: 10.1371/journal.pgen.1001000. PLoS Genet. 2010. PMID: 20585624 Free PMC article.
Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure.
Cahill TJ, Leo V, Kelly M, Stockenhuber A, Kennedy NW, Bao L, Cereghetti GM, Harper AR, Czibik G, Liao C, Bellahcene M, Steeples V, Ghaffari S, Yavari A, Mayer A, Poulton J, Ferguson DJ, Scorrano L, Hettiarachchi NT, Peers C, Boyle J, Hill RB, Simmons A, Watkins H, Dear TN, Ashrafian H. Cahill TJ, et al. Among authors: leo v. J Biol Chem. 2016 Dec 2;291(49):25762. doi: 10.1074/jbc.A115.665695. J Biol Chem. 2016. PMID: 27913663 Free PMC article. No abstract available.
397 results