Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Tom R Webb"'
Autor:
David G. McVey, Catherine Andreadi, Peng Gong, Paulina J. Stanczyk, Charles U. Solomon, Lenka Turner, Liu Yan, Runji Chen, Junjun Cao, Christopher P. Nelson, John R. Thompson, Haojie Yu, Tom R. Webb, Nilesh J. Samani, Shu Ye
Publikováno v:
Cell Death and Disease, Vol 15, Iss 6, Pp 1-12 (2024)
Abstract Vascular smooth muscle cell (VSMC) proliferation, migration, and apoptosis play important roles in many physiological processes and pathological conditions. To identify genetic influences on VSMC behavior, we measured these traits and undert
Externí odkaz:
https://doaj.org/article/dda64775ac3d45af905d844b31b95902
Autor:
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104163 (2014)
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glauc
Externí odkaz:
https://doaj.org/article/15c887a1f0b749fc8219f95900909adc
Autor:
Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e45495 (2012)
Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on ch
Externí odkaz:
https://doaj.org/article/3db6f0fbd97f483eadb7b26a06a19a39
Autor:
Ingrid Tarr, Stephanie Hesselson, Siiri E. Iismaa, Emma Rath, Steven Monger, Michael Troup, Ketan Mishra, Claire M.Y. Wong, Pei-Chen Hsu, Keerat Junday, David T. Humphreys, David Adlam, Tom R. Webb, Anna A. Baranowska-Clarke, Stephen E. Hamby, Keren J. Carss, Nilesh J. Samani, Monique Bax, Lucy McGrath-Cadell, Jason C. Kovacic, Sally L. Dunwoodie, Diane Fatkin, David W.M. Muller, Robert M. Graham, Eleni Giannoulatou
Publikováno v:
Circulation. Genomic and precision medicine. 15(4)
Background: Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary syndrome that predominantly affects women. Its pathophysiology remains unclear but connective tissue disorders (CTD) and other vasculopathies have been observed in
Autor:
Elisavet Karamanavi, David G. McVey, Sander W. van der Laan, Paulina J. Stanczyk, Gavin E. Morris, Yifan Wang, Wei Yang, Kenneth Chan, Robin N. Poston, Jun Luo, Xinmiao Zhou, Peng Gong, Peter D. Jones, Junjun Cao, Renata B. Kostogrys, Tom R. Webb, Gerard Pasterkamp, Haojie Yu, Qingzhong Xiao, Peter A. Greer, Emma J. Stringer, Nilesh J. Samani, Shu Ye
Publikováno v:
Circulation Research. 131:1004-1017
Background: Genome-wide association studies have discovered a link between genetic variants on human chromosome 15q26.1 and increased coronary artery disease (CAD) susceptibility; however, the underlying pathobiological mechanism is unclear. This gen
Autor:
Ilse Van Gucht, Alice Krebsova, Birgitte Rode Diness, Steven Laga, Dave Adlam, Marlies Kempers, Nilesh J. Samani, Tom R. Webb, Ania A. Baranowska, Lotte Van Den Heuvel, Melanie Perik, Ilse Luyckx, Nils Peeters, Pavel Votypka, Milan Macek, Josephina Meester, Lut Van Laer, Aline Verstraeten, Bart L. Loeys
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 7111 (2021)
Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in LOX, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAA
Externí odkaz:
https://doaj.org/article/e25f439b79014f749dedd56b5f5649ef
Autor:
Radoslaw Marek Debiec, Stephen E Hamby, Peter D Jones, Kassem Safwan, Michael Sosin, Simon Lee Hetherington, David Sprigings, David Sharman, Kelvin Lee, Pegah Salahshouri, Nigel Wheeldon, Andrew Chukwuemeka, Vasiliki Boutziouka, Mohamed Elamin, Sue Coolman, Manish Asiani, Shireen Kharodia, Gregory J Skinner, Nilesh J Samani, Tom R Webb, Aidan P Bolger
Publikováno v:
Heart. 108:1114-1120
IntroductionBicuspid aortic valve (BAV) affects 1% of the general population. NOTCH1 was the first gene associated with BAV. The proportion of familial and sporadic BAV disease attributed to NOTCH1 mutations has not been estimated.AimThe aim of our s
Autor:
Charles U. Solomon, David G. McVey, Catherine Andreadi, Peng Gong, Lanka Turner, Sonja Khemiri, Julie C. Chamberlain, Tom R. Webb, Nilesh J. Samani, Shu Ye
A significant portion of the RNA produced from the human genome consists of long non-coding RNAs (lncRNAs). These molecules tend to have lower levels of expression, are more specific to certain tissues, and show greater variation in expression betwee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db8258e69175cc9ac1312f31b0369812
https://doi.org/10.1101/2023.01.06.523019
https://doi.org/10.1101/2023.01.06.523019
Autor:
Elisavet, Karamanavi, David G, McVey, Sander W, van der Laan, Paulina J, Stanczyk, Gavin E, Morris, Yifan, Wang, Wei, Yang, Kenneth, Chan, Robin N, Poston, Jun, Luo, Xinmiao, Zhou, Peng, Gong, Peter D, Jones, Junjun, Cao, Renata B, Kostogrys, Tom R, Webb, Gerard, Pasterkamp, Haojie, Yu, Qingzhong, Xiao, Peter A, Greer, Emma J, Stringer, Nilesh J, Samani, Shu, Ye
Publikováno v:
Circulation research. 131(12)
Genome-wide association studies have discovered a link between genetic variants on human chromosome 15q26.1 and increased coronary artery disease (CAD) susceptibility; however, the underlying pathobiological mechanism is unclear. This genetic locus c
Autor:
Charles U. Solomon, David G. McVey, Catherine Andreadi, Peng Gong, Lenka Turner, Paulina J. Stanczyk, Sonja Khemiri, Julie C. Chamberlain, Wei Yang, Tom R. Webb, Christopher P. Nelson, Nilesh J. Samani, Shu Ye
Publikováno v:
Circulation. 146(12)
Background: Genome-wide association studies have identified many genetic loci that are robustly associated with coronary artery disease (CAD). However, the underlying biological mechanisms are still unknown for most of these loci, hindering the progr