Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis

Autor: Radoslaw Debiec, Stephen E. Hamby, Peter D. Jones, Sue Coolman, Manish Asiani, Shireen Kharodia, Gregory J. Skinner, Nilesh J. Samani, Tom R. Webb, Aidan Bolger

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

Abstract Background Bicuspid aortic valve is the most common congenital valvular heart defect in the general population. BAV is associated with significant morbidity due to valve failure, formation of thoracic aortic aneurysm, and increased risk of i

Externí odkaz: https://doaj.org/article/ac256f24ae524577b9101b1f61cb77f7

Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa986447b04b2df8b621df51938acdb2
https://pubmed.ncbi.nlm.nih.gov/35980654

Polygenic basis and biomedical consequences of telomere length variation

Autor: Christopher P. Nelson, Veryan Codd, John R Thompson, Crispin Musicha, Tao Jiang, Angela M. Wood, Shilpi Sheth, Charley A. Budgeon, Willem H. Ouwehand, Emanuele Di Angelantonio, Svetlana Stoma, Vasiliki Bountziouka, Matthew Denniff, Peter S. Braund, James Eales, Stephen E. Hamby, Sophie C Warner, Dominika E Nanus, Qingning Wang, Stephen Kaptoge, Chloe Swinfield, Amit Khera, Manolo Papakonstantinou, Nilesh J. Samani, Adam S. Butterworth, John Danesh, Minxian Wang, Elias Allara

Publikováno v: Codd, V, Wang, Q, Allara, E, Musicha, C, Kaptoge, S, Stoma, S, Jiang, T, Hamby, S E, Braund, P S, Bountziouka, V, Budgeon, C A, Denniff, M, Swinfield, C, Papakonstantinou, M, Sheth, S, Nanus, D E, Warner, S C, Wang, M, Khera, A V, Eales, J, Ouwehand, W H, Di Angelantonio, E, Wood, A M, Butterworth, A S, Danesh, J N & Samani, N J 2021, ' Polygenic basis and biomedical consequences of telomere length variation ', Nature Genetics, vol. 53, no. 10, pp. 1425-1433 . https://doi.org/10.1038/s41588-021-00944-6
Nature Genetics

Funder: Health Data Research UK EU/EFPIA Innovative Medicines Initiative Joint Undertaking BigData@Heart (11607).
Funder: Health Data Research UK
Telomeres, the end fragments of chromosomes, play key roles in cellular proliferation and sene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a5f7b77fb929a25e4a9d6bfe70b7d5
https://www.repository.cam.ac.uk/handle/1810/329047

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing

Autor: Sally L. Dunwoodie, Lucy McGrath-Cadell, Abtehale Al-Hussaini, Slavé Petrovski, Eleni Giannoulatou, Sri V V Deevi, Nabila Bouatia-Naji, Keren J Carss, David Adlam, Tom R. Webb, Ingrid S. Tarr, Diluka Premawardhana, Nilesh J. Samani, Stephen E. Hamby, Alice Wood, Carolina Haefliger, David W.M. Muller, Robert M. Graham, Javier Armisen, Samuel H. Lewis, Deevia Kotecha, Quanli Wang, Anna A Baranowska, Dimitrios Vitsios, Diane Fatkin, S. Hesselson, Siiri E. Iismaa

Publikováno v: Circulation. Genomic and Precision Medicine

Supplemental Digital Content is available in the text.
Background: Spontaneous coronary artery dissection (SCAD) occurs when an epicardial coronary artery is narrowed or occluded by an intramural hematoma. SCAD mainly affects women and is associ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422aaaa568d38087c43f9aa5c9c57532
https://pubmed.ncbi.nlm.nih.gov/33125268

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

Autor: Joris Deelen, Antonia Trichopoulou, Sara Hägg, Kim Overvad, Elisabete Weiderpass, Iryna O. Fedko, Rudolf Kaaks, Nicola D. Kerrison, Kirsi H. Pietiläinen, Ida Surakka, Veikko Salomaa, Svetlana Stoma, Jaakko Kaprio, Alessandra Allione, Cornelia M. van Duijn, Nicholas G. Martin, Veryan Codd, Olle Melander, Nilesh J. Samani, Josine E. Verhoeven, Anne Tjønneland, Natalia Pervjakova, Domenico Palli, Adam S. Butterworth, Nicholas J. Wareham, María Dolores Chirlaque, P. Eline Slagboom, Massimo Mangino, Pascal P. Arp, Christopher P. Nelson, Brenda W.J.H. Penninx, Jessica L. Buxton, Pietro Ferrari, Tao Jiang, Iiris Hovatta, Taylor K. Loe, N. Charlotte Onland-Moret, Salvatore Panico, Peter Jones, Heiner Boeing, Timothy J. Key, Luca A. Lotta, Miguel Rodríguez-Barranco, Diana van Heemst, Chen Li, Robert A. Scott, Sarah E. Medland, Giuseppe Matullo, Alexessander Couto Alves, Rosario Tumino, Jouke-Jan Hottenga, Ken K. Ong, Vittorio Krogh, Gonneke Willemsen, Andres Metspalu, Eva Albrecht, Elina Sillanpää, Johan G. Eriksson, Najaf Amin, Dale R. Nyholt, Reedik Mägi, Eros Lazzerini Denchi, Peter M. Nilsson, André G. Uitterlinden, Antonio Agudo, Yuri Milaneschi, Ashley van der Spek, Alessia Russo, Linda Broer, Federico Canzian, Marian Beekman, Grant W. Montgomery, Sophie C Warner, Guy Fagherazzi, Markus Perola, Alexandra I. F. Blakemore, Marjo-Riitta Järvelin, Robert Karlsson, Tim D. Spector, Paul W. Franks, H. Eka D. Suchiman, Claudia Langenberg, Liher Imaz, Nancy L. Pedersen, Scott D. Gordon, Stephen E. Hamby, J. Ramón Quirós, Yvonne T. van der Schouw, Concha Moreno, Christian Gieger, Pekka Jousilahti, Dorret I. Boomsma, Marc J. Gunter, Benjamin Miraglio, Gianluca Severi, John Danesh

Publikováno v: American Journal of Human Genetics, 106(3), 389-404. CELL PRESS
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J-J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M-D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American Journal of Human Genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006
Am. J. Hum. Genet. 106, 389-404 (2020)
American Journal of Human Genetics, 106(3), 389-404. Cell Press
Dipòsit Digital de la UB
Universidad de Barcelona
Am J Hum Genet
American journal of human genetics, 106(3), 389-404. Cell Press
American Journal of Human Genetics
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American journal of human genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006
American Journal of Human Genetics, 106(3), 389. Cell Press
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J-J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M-D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American Journal of Human Genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006

Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e238cacd13be676a0aea71ee6af24125
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169391