Zobrazeno 1 - 10
of 125
pro vyhledávání: '"J. R. Barton"'
Autor:
Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically ass
Externí odkaz:
https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3
Autor:
Huimei Chen, Aida Moreno-Moral, Francesco Pesce, Nithya Devapragash, Massimiliano Mancini, Ee Ling Heng, Maxime Rotival, Prashant K. Srivastava, Nathan Harmston, Kirill Shkura, Owen J. L. Rackham, Wei-Ping Yu, Xi-Ming Sun, Nicole Gui Zhen Tee, Elisabeth Li Sa Tan, Paul J. R. Barton, Leanne E. Felkin, Enrique Lara-Pezzi, Gianni Angelini, Cristina Beltrami, Michal Pravenec, Sebastian Schafer, Leonardo Bottolo, Norbert Hubner, Costanza Emanueli, Stuart A. Cook, Enrico Petretto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Pathological cardiac fibrosis is a hallmark of diseases leading to heart failure. Here, the authors used systems genetics to identify a pro-fibrotic gene network regulated by WWP2, a E3 ubiquitin ligase, which orchestrates the nucleocytoplasmic shutt
Externí odkaz:
https://doaj.org/article/cfb1b8ece2684ea692a537c58f79dad3
Autor:
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate L. Thomson, Hugh Watkins, Paul J. R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)
Abstract Background International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Ge
Externí odkaz:
https://doaj.org/article/dff8a2d61caa43d29ddbbb7e3f495ffe
Autor:
Francesco Mazzarotto, Iacopo Olivotto, Beatrice Boschi, Francesca Girolami, Corrado Poggesi, Paul J. R. Barton, Roddy Walsh
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 8 (2020)
Abstract Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by 30 years of research into its genetic etiology. Although pathogenic variants are often detected in patients and used to identify at‐ri
Externí odkaz:
https://doaj.org/article/b884d942541041a89eac8d3be5f77b5f
Autor:
Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21052-3
Externí odkaz:
https://doaj.org/article/95ff9daf50d0425fbdccd286a23ed83e
Autor:
Kathryn A. McGurk, Xiaolei Zhang, Pantazis Theotokis, Kate Thomson, Andrew Harper, Rachel J. Buchan, Erica Mazaika, Elizabeth Ormondroyd, William T. Wright, Daniela Macaya, Chee Jian Pua, Birgit Funke, Daniel G. MacArthur, Sanjay Prasad, Stuart A. Cook, Mona Allouba, Yasmine Aguib, Magdi H. Yacoub, Declan P. O’Regan, Paul J. R. Barton, Hugh Watkins, Leonardo Bottolo, James S. Ware
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs) is of paramount importance with the growing availability of genetic testing. We estimated penetrance through large-scale analyses of patients referred for diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75738ceeb386549240e3ad0a8142aa93
https://doi.org/10.1101/2023.03.15.23287112
https://doi.org/10.1101/2023.03.15.23287112
Autor:
Daniel Reichart, Eric L. Lindberg, Henrike Maatz, Antonio M. A. Miranda, Anissa Viveiros, Nikolay Shvetsov, Anna Gärtner, Emily R. Nadelmann, Michael Lee, Kazumasa Kanemaru, Jorge Ruiz-Orera, Viktoria Strohmenger, Daniel M. DeLaughter, Giannino Patone, Hao Zhang, Andrew Woehler, Christoph Lippert, Yuri Kim, Eleonora Adami, Joshua M. Gorham, Sam N. Barnett, Kemar Brown, Rachel J. Buchan, Rasheda A. Chowdhury, Chrystalla Constantinou, James Cranley, Leanne E. Felkin, Henrik Fox, Ahla Ghauri, Jan Gummert, Masatoshi Kanda, Ruoyan Li, Lukas Mach, Barbara McDonough, Sara Samari, Farnoush Shahriaran, Clarence Yapp, Caroline Stanasiuk, Pantazis I. Theotokis, Fabian J. Theis, Antoon van den Bogaerdt, Hiroko Wakimoto, James S. Ware, Catherine L. Worth, Paul J. R. Barton, Young-Ae Lee, Sarah A. Teichmann, Hendrik Milting, Michela Noseda, Gavin Y. Oudit, Matthias Heinig, Jonathan G. Seidman, Norbert Hubner, Christine E. Seidman
Publikováno v:
Science
Science 377:eabo1984 (2022)
Science 377:eabo1984 (2022)
INTRODUCTION Human heart failure is a highly morbid condition that affects 23 million individuals worldwide. It emerges in the setting of an array of different cardiovascular disorders, which has propelled the notion that diverse stimuli converge on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d33efde459df4c917ded22f9b8a36e70
https://pubmed.ncbi.nlm.nih.gov/35926050
https://pubmed.ncbi.nlm.nih.gov/35926050
Autor:
Huimei Chen, Aida Moreno-Moral, Francesco Pesce, Nithya Devapragash, Massimiliano Mancini, Ee Ling Heng, Maxime Rotival, Prashant K. Srivastava, Nathan Harmston, Kirill Shkura, Owen J. L. Rackham, Wei-Ping Yu, Xi-Ming Sun, Nicole Gui Zhen Tee, Elisabeth Li Sa Tan, Paul J. R. Barton, Leanne E. Felkin, Enrique Lara-Pezzi, Gianni Angelini, Cristina Beltrami, Michal Pravenec, Sebastian Schafer, Leonardo Bottolo, Norbert Hubner, Costanza Emanueli, Stuart A. Cook, Enrico Petretto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/28195d5a2cfd4a2ca91a728a572eb369
Autor:
N. M. Quaife, S. Chothani, J. F. Schulz, E. L. Lindberg, K. Vanezis, E. Adami, K. O’Fee, J. Greiner, M. Litviňuková, S. van Heesch, N. Whiffin, N. Hubner, S. Schafer, O. Rackham, S. A. Cook, P. J. R. Barton
Myocardial fibrosis confers an almost threefold mortality risk in heart disease. There are no prognostic therapies and novel therapeutic targets are needed. Many thousands of unannotated small open reading frames (smORFs) have been identified across
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7344731689ad122a7a82eacb203b3fe1
http://hdl.handle.net/10044/1/98149
http://hdl.handle.net/10044/1/98149
Autor:
N M, Quaife, S, Chothani, J F, Schulz, E L, Lindberg, K, Vanezis, E, Adami, K, O'Fee, J, Greiner, M, Litviňuková, S, van Heesch, N, Whiffin, N, Hubner, S, Schafer, O, Rackham, S A, Cook, P J R, Barton
Publikováno v:
Journal of cardiovascular translational research.
Myocardial fibrosis confers an almost threefold mortality risk in heart disease. There are no prognostic therapies and novel therapeutic targets are needed. Many thousands of unannotated small open reading frames (smORFs) have been identified across
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5675fea25dc0917b5089f3179444041
https://pubmed.ncbi.nlm.nih.gov/35834119
https://pubmed.ncbi.nlm.nih.gov/35834119