Estimating nuclear scanning capacity requirements for patients with suspected cardiac transthyretin amyloidosis

Autor: Vincenzo C. Leo, Syed Kazmi, Jack Brownrigg, Marzieh Araghi, Harpreet S. Sarna, Pierpaolo Pellicori, Joe Cuthbert, John G.F. Cleland, Andrew L. Clark

Publikováno v: ESC Heart Failure, Vol 10, Iss 2, Pp 1492-1496 (2023)

Externí odkaz: https://doaj.org/article/702fafd91f134919882747f85ec10651

Next-Generation Sequencing in the Study of Platelets

Autor: Vincenzo C. Leo

Publikováno v: Platelets in Thrombotic and Non-Thrombotic Disorders ISBN: 9783319474601

Platelet function disorders (PFDs) arise as a result of defects in platelet formation or function, which can lead to a bleeding diathesis of varying severity, and are often accompanied by additional syndromic features. Well-characterised disorders su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::87c14a61cab2b9eefbf00e74cf552eb5
https://doi.org/10.1007/978-3-319-47462-5_47

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy

Autor: Dorota Szumska, Debbie Williams, Michael Cheeseman, Violetta Steeples, Narcis Fernandez-Fuentes, Sara Wells, T. Neil Dear, Zuzanne Lalanne, John M. Land, Christopher Towlson, Ivana Barbaric, Monica Neilan, Julian L. Griffin, D. P. Norris, Iain P. Hargreaves, Craig A. Lygate, Louise Docherty, Tertius Hough, Hugh Watkins, Vincenzo C. Leo, Stuart Townsend, Shoumo Bhattacharya, Paul Denny, Houman Ashrafian, Sarah Glyn-Jones

Publikováno v: Ashrafian, H, Docherty, L, Leo, V, Towlson, C, Neilan, M, Steeples, V, Lygate, C A, 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, J L, Hargreaves, I, Fernandez-Fuentes, N, Cheeseman, M, Watkins, H & Dear, T N 2010, ' A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy ', PLoS Genetics, vol. 6, no. 6, ARTN e1001000 . https://doi.org/10.1371/journal.pgen.1001000
PLoS Genetics, Vol 6, Iss 6, p e1001000 (2010)
PLoS Genetics

Mutations in a number of genes have been linked to inherited dilated cardiomyopathy (DCM). However, such mutations account for only a small proportion of the clinical cases emphasising the need for alternative discovery approaches to uncovering novel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ea473c430b5e9b0ff1b009a59f8c2d
https://doi.org/10.1371/journal.pgen.1001000

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

Autor: Marie, Lordkipanidzé, Gillian C, Lowe, Nicholas S, Kirkby, Melissa V, Chan, Martina H, Lundberg, Neil V, Morgan, Danai, Bem, Shaista P, Nisar, Vincenzo C, Leo, Matthew L, Jones, Stuart J, Mundell, Martina E, Daly, Andrew D, Mumford, Timothy D, Warner, Steve P, Watson, Jayanthi, Alamelu

Publikováno v: Blood. 123(8)

Up to 1% of the population have mild bleeding disorders, but these remain poorly characterized, particularly with regard to the roles of platelets. We have compared the usefulness of Optimul, a 96-well plate-based assay of 7 distinct pathways of plat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::39783b4564c7f4b4992db7c8b3e455f5
https://pubmed.ncbi.nlm.nih.gov/24408324

The role of CACNA1S in predisposition to malignant hyperthermia

Autor: Rachel Robinson, Christopher Ringrose, Philip M. Hopkins, Danielle Carpenter, Marie-Anne Shaw, P. Jane Halsall, Andrew P. Morris, Vincenzo C. Leo

Publikováno v: BMC Medical Genetics, Vol 10, Iss 1, p 104 (2009)
BMC Medical Genetics

Background Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum. The dihydropyridine receptor (DHPR) plays an essential r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f18b5e9d66853ec12819ce6563d402
http://www.biomedcentral.com/1471-2350/10/104