Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Kate Downes"'
Autor:
Parsa Akbari, Dragana Vuckovic, Luca Stefanucci, Tao Jiang, Kousik Kundu, Roman Kreuzhuber, Erik L. Bao, Janine H. Collins, Kate Downes, Luigi Grassi, Jose A. Guerrero, Stephen Kaptoge, Julian C. Knight, Stuart Meacham, Jennifer Sambrook, Denis Seyres, Oliver Stegle, Jeffrey M. Verboon, Klaudia Walter, Nicholas A. Watkins, John Danesh, David J. Roberts, Emanuele Di Angelantonio, Vijay G. Sankaran, Mattia Frontini, Stephen Burgess, Taco Kuijpers, James E. Peters, Adam S. Butterworth, Willem H. Ouwehand, Nicole Soranzo, William J. Astle
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large-scale genetic analysis. We perf
Externí odkaz:
https://doaj.org/article/933ad5fb05dc4e368d06635bf8fe0d85
Autor:
Isuru Induruwa, Carly Kempster, Patrick Thomas, Harriet McKinney, Jean-Daniel Malcor, Arkadiusz Bonna, Joana Batista, Kenji Soejima, Willem Ouwehand, Richard W. Farndale, Kate Downes, Masaaki Moroi, Stephanie M. Jung, Elizabeth A. Warburton
Publikováno v:
TH Open, Vol 07, Iss 04, Pp e294-e302 (2023)
Externí odkaz:
https://doaj.org/article/8ae6dcf47e944abfa2c75e9bcb37ce76
Autor:
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Abstract Background The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however, increasingly being
Externí odkaz:
https://doaj.org/article/592317068741464ab4f2701a8ccc78e4
Autor:
David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason, Stephen Burgess, Stephen MacDonald, Jonathan Langdown, Harriett McKinney, Kate Downes, Neda Farahi, James E. Peters, Saonli Basu, James S. Pankow, Weihong Tang, Nathan Pankratz, Maria Sabater-Lleal, Paul S. de Vries, Nicholas L. Smith, CHARGE Hemostasis Working Group, Amy D. Gelinas, Daniel J. Schneider, Nebojsa Janjic, Nilesh J. Samani, Shu Ye, Charlotte Summers, Edwin R. Chilvers, John Danesh, Dirk S. Paul
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Many individual genetic risk loci associate with multiple diseases, but the molecular basis of these loci often remains unclear. Here, the authors provide a framework to reveal the genetic cross-disease associations at the PROCR vascular disease locu
Externí odkaz:
https://doaj.org/article/06e0764427f642ea9f1647a016e4fe9d
Autor:
Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan
Publikováno v:
Platelets, Vol 33, Iss 2, Pp 320-323 (2022)
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed. RUNX1 has also been found to be mutated
Externí odkaz:
https://doaj.org/article/bf5293d1d2774c9a91b06015384ba76f
Autor:
Stephen Watt, Louella Vasquez, Klaudia Walter, Alice L. Mann, Kousik Kundu, Lu Chen, Ying Sims, Simone Ecker, Frances Burden, Samantha Farrow, Ben Farr, Valentina Iotchkova, Heather Elding, Daniel Mead, Manuel Tardaguila, Hannes Ponstingl, David Richardson, Avik Datta, Paul Flicek, Laura Clarke, Kate Downes, Tomi Pastinen, Peter Fraser, Mattia Frontini, Biola-Maria Javierre, Mikhail Spivakov, Nicole Soranzo
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are assoc
Externí odkaz:
https://doaj.org/article/a08e861a297c4eba8c835747ae9b90f8
Autor:
Isuru Induruwa, Harriet McKinney, Carly Kempster, Patrick Thomas, Joana Batista, Jean-Daniel Malcor, Arkadiusz Bonna, Joanne McGee, Elaine Bumanlag-Amis, Karola Rehnstrom, Sophie Ashford, Kenji Soejima, Willem Ouwehand, Richard Farndale, Kate Downes, Elizabeth Warburton, Masaaki Moroi, Stephanie Jung
Publikováno v:
PLoS ONE, Vol 17, Iss 1, p e0262695 (2022)
ObjectivesPlatelet activation underpins thrombus formation in ischemic stroke. The active, dimeric form of platelet receptor glycoprotein (GP) VI plays key roles by binding platelet ligands collagen and fibrin, leading to platelet activation. We inve
Externí odkaz:
https://doaj.org/article/7102245d8cac49b2b1488e72c6a6c041
Autor:
David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason, Stephen Burgess, Stephen MacDonald, Jonathan Langdown, Harriett McKinney, Kate Downes, Neda Farahi, James E. Peters, Saonli Basu, James S. Pankow, Weihong Tang, Nathan Pankratz, Maria Sabater-Lleal, Paul S. de Vries, Nicholas L. Smith, CHARGE Hemostasis Working Group, Amy D. Gelinas, Daniel J. Schneider, Nebojsa Janjic, Nilesh J. Samani, Shu Ye, Charlotte Summers, Edwin R. Chilvers, John Danesh, Dirk S. Paul
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-2 (2022)
Externí odkaz:
https://doaj.org/article/1a0ca0f841d5435e8760059b3c401a54
Autor:
Lore De Kock, Chantal Thys, Kate Downes, Daniel Duarte, Karyn Megy, Chris Van Geet, Kathleen Freson
Publikováno v:
Platelets, Vol 30, Iss 7, Pp 931-934 (2019)
A germline heterozygous gain-of-function p.E527K variant in tyrosine kinase SRC was previously found to cause thrombocytopenia, myelofibrosis, bleeding, bone pathologies, premature edentulism and mild facial dysmorphia in nine patients of a single pe
Externí odkaz:
https://doaj.org/article/a2de273c57d64b8bad292b81fce6411f
Autor:
Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Chantal Thys, Chris Van Geet, NIHR BioResource, Kathleen Stirrups, Kate Downes, Ernest Turro, Kathleen Freson
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 9-16 (2019)
Abstract Background Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoa
Externí odkaz:
https://doaj.org/article/fc61d66386ba4d82840c3f4a32dfd91f