Zobrazeno 1 - 10 of 30 pro vyhledávání: '"Mark Cowley"'
1
Short and long-read whole genome sequencing explains most undiagnosed Autosomal Dominant Polycystic Kidney Disease
Autor: Amali Mallawaarachchi, Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanonvski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark Cowley, John Shine
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic cause of kidney failure and primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after standard genetic testing. We aimed to utilise
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0c480526c8121f756405201219e2f80e
https://doi.org/10.21203/rs.3.rs-2397081/v1
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2
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Autor: Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski
usc Refereed/Peer-reviewed Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140
https://hdl.handle.net/11541.2/34507
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3
SOX9 regulates ERBB signalling in pancreatic cancer development
Autor: Amanda Mawson, Cécile Augereau, Christine Sempoux, Patrick Jacquemin, Ilse Rooman, Frédéric P. Lemaigre, Andrew V. Biankin, Adrien Grimont, Marina Pajic, Nicola Waddell, Marc Giry-Laterriere, Sean M. Grimmond, Andreia Av Pinho, Mark Cowley, Geraldine Van den Steen, Jianmin Wu
Publikováno v: Gut, Vol. 64, no. 11, p. 1790-1799 (2015)
OBJECTIVE: The transcription factor SOX9 was recently shown to stimulate ductal gene expression in pancreatic acinar-to-ductal metaplasia and to accelerate development of premalignant lesions preceding pancreatic ductal adenocarcinoma (PDAC). Here, w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f39c2308966d5fc7b5ab18ef60c4ffa5
https://doi.org/10.1136/gutjnl-2014-307075
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5
Indole-3-acetic Acid Antagonists of the Prostaglandin D2 Receptor CRTH2
Autor: Luzheng Xue, Mark Richard Ashton, Frederick Arthur Brookfield, Shân L. Gyles, Mark Cowley Whittaker, Roy Pettipher, Richard Edward Armer, Edward Andrew Boyd, Michael G. Hunter, Christopher James Brennan, Philip Andrew Hay, David Middlemiss, Lucien Gazi
Publikováno v: Journal of Medicinal Chemistry. 48:6174-6177
Prostaglandin D2 (PGD2) acting at the CRTH2 receptor (chemoattractant receptor-homologous molecule expressed on Th2 cells) has been linked with a variety of allergic and other inflammatory diseases. We describe a family of indole-1-sulfonyl-3-acetic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff642328060fa8adb52a26d21e76d9bf
https://doi.org/10.1021/jm050519b
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7
Sirtuin-1 regulates acinar to ductal metaplasia and supports cancer cell viability in pancreatic cancer
Autor: Elke Wauters, Victor Sanchez-Arevalo Lobo, Av Pinho, Amanda Mawson, Jianmin Wu, Mark Cowley, Emily Colvin, Erna Ngwayi Njicop, Sutherland, R., Tao Liu, Serrano, M., Luc Bouwens, Real, Fransisco X., Av Biankin, Ilse Rooman
Publikováno v: Vrije Universiteit Brussel
The exocrine pancreas can undergo acinar to ductal metaplasia (ADM), as in the case of pancreatitis where precursor lesions of pancreatic ductal adenocarcinoma (PDAC) can arise. The NAD+-dependent protein deacetylase Sirtuin-1 (Sirt1) has been implic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a44c71cae1a7313afc0a5c933960683c
https://researchportal.vub.be/en/publications/0dbf8eb1-1d0e-4b8c-9a45-760859ac8957
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9
Akademický článek
Assays of Variant Effect and Automated Patch Clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk Stratification.
Autor: O'Neill MJ; Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN (M.J.O., X.B.)., Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.).; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia (C.-A.N., J.I.V.)., Aizawa T; Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Japan (T.A., A.K.)., Sala L; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.S.).; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Bains S; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Winbo A; Department of Physiology, University of Auckland, New Zealand. (A.W., B.M.K.)., Ullah R; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Shen Q; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.)., Tan CY; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.)., Kozek K; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Vanags LR; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Mitchell DW; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Shen A; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Wada Y; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Kashiwa A; Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Japan (T.A., A.K.)., Crotti L; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.).; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Dagradi F; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Musu G; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Spazzolini C; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Neves R; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Bos JM; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Giudicessi JR; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Bledsoe X; Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN (M.J.O., X.B.)., Gamazon ER; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (E.R.G.)., Lancaster MC; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Glazer AM; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Knollmann BC; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Roden DM; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Weile J; Department of Medicine and Surgery, University Milano Bicocca, Milan, Italy. Department of Molecular Genetics, University of Toronto, Canada (J.W., F.R.)., Roth F; Department of Medicine and Surgery, University Milano Bicocca, Milan, Italy. Department of Molecular Genetics, University of Toronto, Canada (J.W., F.R.)., Salem JE; Sorbonne University, APHP, INSERM, Clinical Pharmacology, Hopital Pitié-Salpétière Department of Medicine, University of Auckland, New Zealand. (J.-E.S.)., Earle N; Department of Cardiology, Waikato Hospital, Hamilton, New Zealand (N.E., R.S.)., Stiles R; Department of Cardiology, Waikato Hospital, Hamilton, New Zealand (N.E., R.S.)., Agee T; Department of Chemistry, Mississippi State University, Starkville (T.A., C.N.J.)., Johnson CN; Department of Chemistry, Mississippi State University, Starkville (T.A., C.N.J.)., Horie M; Department of Cardiovascular Medicine, Shiga University of Medical Science, Japan (M.H.)., Skinner J; Sydney Children's Hospital Network, University of Sydney, Australia (J.S.)., Ackerman MJ; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Schwartz PJ; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Ohno S; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan (S.O.)., Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.).; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia (C.-A.N., J.I.V.)., Kroncke BM; Department of Physiology, University of Auckland, New Zealand. (A.W., B.M.K.).
Publikováno v: Circulation [Circulation] 2024 Sep 24. Date of Electronic Publication: 2024 Sep 24.
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10
Akademický článek
Potassium dependent structural changes in the selectivity filter of HERG potassium channels.
Autor: Lau CHY; Mark Cowley Lidwill Research Program, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia., Flood E; School of Science, RMIT University, Melbourne, VIC, Australia., Hunter MJ; Mark Cowley Lidwill Research Program, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia., Williams-Noonan BJ; School of Science, RMIT University, Melbourne, VIC, Australia., Corbett KM; School of Science, RMIT University, Melbourne, VIC, Australia., Ng CA; Mark Cowley Lidwill Research Program, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia., Bouwer JC; Molecular Horizons and School of Chemistry and Molecular Bioscience, and ARC Centre for Cryoelectron Microscopy of Membrane Proteins, University of Wollongong, Wollongong, NSW, Australia., Stewart AG; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia.; Computational and Structural Biology Division, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia., Perozo E; Department of Biochemistry and Molecular Biology, The University of Chicago, Chicago, IL, USA., Allen TW; School of Science, RMIT University, Melbourne, VIC, Australia. toby.allen@rmit.edu.au., Vandenberg JI; Mark Cowley Lidwill Research Program, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia. j.vandenberg@victorchang.edu.au.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia. j.vandenberg@victorchang.edu.au.
Publikováno v: Nature communications [Nat Commun] 2024 Aug 29; Vol. 15 (1), pp. 7470. Date of Electronic Publication: 2024 Aug 29.
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