Search Results - "Barton, J R"

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy by Walsh, Roddy, Mazzarotto, Francesco, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Li, Nicholas, Felkin, Leanne, Ingold, Nathan, Govind, Risha, Ahmad, Mian, Mazaika, Erica, Allouba, Mona, Zhang, Xiaolei, de Marvao, Antonio, Day, Sharlene M, Ashley, Euan, Colan, Steven D, Michels, Michelle, Pereira, Alexandre C, Jacoby, Daniel, Ho, Carolyn Y, Thomson, Kate L, Watkins, Hugh, Barton, Paul J R, Olivotto, Iacopo, Cook, Stuart A, Ware, James S

“…International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising…”
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Assessment of the greenhouse effect impact of technologies used for energy recovery from municipal waste: A case for England by Papageorgiou, A., Barton, J.R., Karagiannidis, A.

“…Waste management activities contribute to global greenhouse gas emissions approximately by 4%. In particular the disposal of waste in landfills generates…”
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Cardiomyocyte-Restricted Expression of IL11 Causes Cardiac Fibrosis, Inflammation, and Dysfunction by Sweeney, Mark, O'Fee, Katie, Villanueva-Hayes, Chelsie, Rahman, Ekhlas, Lee, Michael, Vanezis, Konstantinos, Andrew, Ivan, Lim, Wei-Wen, Widjaja, Anissa, Barton, Paul J R, Cook, Stuart A

“…Cardiac fibrosis is a common pathological process in heart disease, representing a therapeutic target. Transforming growth factor β (TGFβ) is the canonical…”
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Using high-resolution variant frequencies to empower clinical genome interpretation by Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S

“…Purpose Whole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating…”
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Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers by Li, Xinzhong, Buckton, Andrew J, Wilkinson, Samuel L, John, Shibu, Walsh, Roddy, Novotny, Tomas, Valaskova, Iveta, Gupta, Manu, Game, Laurence, Barton, Paul J R, Cook, Stuart A, Ware, James S

“…Molecular genetic testing is recommended for diagnosis of inherited cardiac disease, to guide prognosis and treatment, but access is often limited by cost and…”
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Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function by McDermott-Roe, Chris, Ye, Junmei, Ahmed, Rizwan, Sun, Xi-Ming, Serafín, Anna, Ware, James, Bottolo, Leonardo, Muckett, Phil, Cañas, Xavier, Zhang, Jisheng, Rowe, Glenn C., Buchan, Rachel, Lu, Han, Braithwaite, Adam, Mancini, Massimiliano, Hauton, David, Martí, Ramon, García-Arumí, Elena, Hubner, Norbert, Jacob, Howard, Serikawa, Tadao, Zidek, Vaclav, Papousek, Frantisek, Kolar, Frantisek, Cardona, Maria, Ruiz-Meana, Marisol, García-Dorado, David, Comella, Joan X., Felkin, Leanne E., Barton, Paul J. R., Arany, Zoltan, Pravenec, Michal, Petretto, Enrico, Sanchis, Daniel, Cook, Stuart A.

“…Endonuclease G and heart disease Elevated left ventricular mass, a highly heritable trait, is an important risk factor for heart failure and death. Stuart Cook…”
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Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing? by Mazzarotto, Francesco, Olivotto, Iacopo, Boschi, Beatrice, Girolami, Francesca, Poggesi, Corrado, Barton, Paul J R, Walsh, Roddy

“…Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by 30 years of research into its genetic etiology…”
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Carbon – Making the right choice for waste management in developing countries by Barton, J.R., Issaias, I., Stentiford, E.I.

“…Due to initiatives such as the clean development mechanism (CDM), reducing greenhouse gas emissions for a developing country can offer an important route to…”
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Expression of Follistatin-Related Genes Is Altered in Heart Failure by Lara-Pezzi, Enrique, Felkin, Leanne E, Birks, Emma J, Sarathchandra, Padmini, Panse, Kalyani D, George, Robert, Hall, Jennifer L, Yacoub, Magdi H, Rosenthal, Nadia, Barton, Paul J. R

“…Follistatins play roles in diverse biological processes including cell proliferation, wound healing, inflammation, and skeletal muscle growth, yet their role…”
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Clinical, Molecular, and Genomic Changes in Response to a Left Ventricular Assist Device by Hall, Jennifer L., PhD, Fermin, David R., MD, Birks, Emma J., MD, Barton, Paul J.R., PhD, Slaughter, Mark, MD, Eckman, Peter, MD, Baba, Hideo A., MD, Wohlschlaeger, Jeremias, MD, Miller, Leslie W., MD

“…The use of left ventricular assist devices in treating patients with end-stage heart failure has increased significantly in recent years, both as a bridge to…”
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Telethonin Deficiency Is Associated With Maladaptation to Biomechanical Stress in the Mammalian Heart by Knöll, Ralph, Linke, Wolfgang A, Zou, Peijian, Miočiċ, Snježana, Kostin, Sawa, Buyandelger, Byambajav, Ku, Ching-Hsin, Neef, Stefan, Bug, Monika, Schäfer, Katrin, Knöll, Gudrun, Felkin, Leanne E, Wessels, Johannes, Toischer, Karl, Hagn, Franz, Kessler, Horst, Didié, Michael, Quentin, Thomas, Maier, Lars S, Teucher, Nils, Unsöld, Bernhard, Schmidt, Albrecht, Birks, Emma J, Gunkel, Sylvia, Lang, Patrick, Granzier, Henk, Zimmermann, Wolfram-Hubertus, Field, Loren J, Faulkner, Georgine, Dobbelstein, Matthias, Barton, Paul J.R, Sattler, Michael, Wilmanns, Matthias, Chien, Kenneth R

“…RATIONALE:Telethonin (also known as titin-cap or t-cap) is a 19-kDa Z-disk protein with a unique β-sheet structure, hypothesized to assemble in a palindromic…”
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WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling by Chen, Huimei, Moreno-Moral, Aida, Pesce, Francesco, Devapragash, Nithya, Mancini, Massimiliano, Heng, Ee Ling, Rotival, Maxime, Srivastava, Prashant K., Harmston, Nathan, Shkura, Kirill, Rackham, Owen J. L., Yu, Wei-Ping, Sun, Xi-Ming, Tee, Nicole Gui Zhen, Tan, Elisabeth Li Sa, Barton, Paul J. R., Felkin, Leanne E., Lara-Pezzi, Enrique, Angelini, Gianni, Beltrami, Cristina, Pravenec, Michal, Schafer, Sebastian, Bottolo, Leonardo, Hubner, Norbert, Emanueli, Costanza, Cook, Stuart A., Petretto, Enrico

“…Cardiac fibrosis is a final common pathology in inherited and acquired heart diseases that causes cardiac electrical and pump failure. Here, we use systems…”
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The Anglo-Australian Observatory 2dF facility by Lewis, I. J., Cannon, R. D., Taylor, K., Glazebrook, K., Bailey, J. A., Baldry, I. K., Barton, J. R., Bridges, T. J., Dalton, G. B., Farrell, T. J., Gray, P. M., Lankshear, A., McCowage, C., Parry, I. R., Sharples, R. M., Shortridge, K., Smith, G. A., Stevenson, J., Straede, J. O., Waller, L. G., Whittard, J. D., Wilcox, J. K., Willis, K. C.

“…The 2dF (Two-degree Field) facility at the prime focus of the Anglo-Australian Telescope provides multiple-object spectroscopy over a 2° field of view. Up to…”
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Choice of cell-delivery route for skeletal myoblast transplantation for treating post-infarction chronic heart failure in rat by Fukushima, Satsuki, Coppen, Steven R, Lee, Joon, Yamahara, Kenichi, Felkin, Leanne E, Terracciano, Cesare M N, Barton, Paul J R, Yacoub, Magdi H, Suzuki, Ken

“…Intramyocardial injection of skeletal myoblasts (SMB) has been shown to be a promising strategy for treating post-infarction chronic heart failure. However,…”
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AMP Deaminase 1 Gene Polymorphism and Heart Disease—A Genetic Association That Highlights New Treatment by Smolenski, Ryszard T., Rybakowska, Iwona, Turyn, Jacek, Romaszko, Paweł, Zabielska, Magdalena, Taegtmeyer, Anne, Słomińska, Ewa M., Kaletha, Krystian K., Barton, Paul J. R.

“…Nucleotide metabolism and signalling is directly linked to myocardial function. Therefore analysis how diversity of genes coding nucleotide metabolism related…”
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Truncations of Titin Causing Dilated Cardiomyopathy by Herman, Daniel S, Lam, Lien, Taylor, Matthew R.G, Wang, Libin, Teekakirikul, Polakit, Christodoulou, Danos, Conner, Lauren, DePalma, Steven R, McDonough, Barbara, Sparks, Elizabeth, Teodorescu, Debbie Lin, Cirino, Allison L, Banner, Nicholas R, Pennell, Dudley J, Graw, Sharon, Merlo, Marco, Di Lenarda, Andrea, Sinagra, Gianfranco, Bos, J. Martijn, Ackerman, Michael J, Mitchell, Richard N, Murry, Charles E, Lakdawala, Neal K, Ho, Carolyn Y, Barton, Paul J.R, Cook, Stuart A, Mestroni, Luisa, Seidman, Christine E, Seidman, J.G

“…Titin, an important protein in the sarcomere, is the largest human protein. This study identified mutations in the titin gene that result in a truncated…”
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Possible regulatory roles of promoter g-quadruplexes in cardiac function-related genes - human TnIc as a model by Zhou, Wenhua, Suntharalingam, Kogularamanan, Brand, Nigel J, Barton, Paul J R, Vilar, Ramon, Ying, Liming

“…G-quadruplexes (G4s) are four-stranded DNA secondary structures, which are involved in a diverse range of biological processes. Although the anti-cancer…”
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Myocardial expression of the Arginine:Glycine amidinotransferase gene is elevated in heart failure and normalized after recovery : Potential implications for local creatine synthesis by CULLEN, Martin E, YUEN, Ada H. Y, FELKIN, Leanne E, SMOLENSKI, Ryszard T, HALL, Jennifer L, GRINDLE, Suzanne, MILLER, Leslie W, BIRKS, Emma J, YACOUB, Magdi H, BARTON, Paul J. R

“…Combination therapy consisting of mechanical unloading using a left ventricular assist device (LVAD) and pharmacological intervention can promote recovery from…”
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The management of placenta percreta: Conservative and operative strategies by O'Brien, John M., Barton, John R., Donaldson, Elvis S.

“…OBJECTIVE: Our purpose was to assess preferences for the management of placenta percreta and identify aspects of care related to an improved outcome. STUDY…”
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FineSplice, enhanced splice junction detection and quantification: a novel pipeline based on the assessment of diverse RNA-Seq alignment solutions by Gatto, Alberto, Torroja-Fungairiño, Carlos, Mazzarotto, Francesco, Cook, Stuart A., Barton, Paul J. R., Sánchez-Cabo, Fátima, Lara-Pezzi, Enrique

“…Alternative splicing is the main mechanism governing protein diversity. The recent developments in RNA-Seq technology have enabled the study of the global…”
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