A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

Autor: Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance

Externí odkaz: https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14

Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, K Ca 1.1, in Sinus Node Function and Arrhythmia Risk

Autor: Georg Vogler, Diane Fatkin, Katja Birker, Christiana Leimena, Ann-Kristin Altekoester, Peter C. M. Molenaar, Karen Ocorr, David G. Allen, Richard P. Harvey, Halina Dobrzynski, Inken G. Huttner, Arie Jacoby, Magdalena Soka, Renee Johnson, Andrew Atkinson, Vesna Nikolova-Krstevski, Adam P. Hill, Rolf Bodmer, Yue-Kun Ju, Sreehari Kalvakuri, Santiago Pineda, Dirk F. van Helden, Charles D. Cox, Dennis L. Kuchar, Monique Ohanian, Gunjan Trivedi

Publikováno v: Circulation: Genomic and Precision Medicine. 14

Background: KCNMA1 encodes the α-subunit of the large-conductance Ca 2+ -activated K + channel, K Ca 1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into the cardiac functions of K Ca 1.1 are limited, and KCNMA1 has no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01612d0422981dad9c335de2df839668
https://doi.org/10.1161/circgen.120.003144

Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, KCa1.1, in Sinus Node Function and Arrhythmia Risk

Autor: Santiago Pined, David G. Allen, Dirk F. van Helden, Sreehari Kalvakuri, Halina Dobrzyn, Christiana Leimena, Renee Johnson, Andrew Atkinson, Richard P. Harvey, Diane Fatkin, Gunjan Trived, Ann-Kristin Altekoester, Karen Ocorr, Peter C. M. Molenaar, Arie Jacoby, Charles D. Cox, Dennis L. Kuchar, Rolf Bodmer, Monique Ohanian, Inken G. Huttner, Georg Vogler, Magdalena Soka, Vesna Nikolova-Krstevski, Yue-Kun Ju, Adam P. Hill

BackgroundKCNMA1 encodes the α-subunit of the large-conductance Ca2+-activated K+ channel, KCa1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into the cardiac functions of KCa1.1 are limited and KCNMA1 has not been inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::47d38efcb107ad676586738e523b836b
https://doi.org/10.1101/2020.06.28.176495

Genetic variation in the two-pore domain potassium channel, TASK-1, may contribute to an atrial substrate for arrhythmogenesis

Autor: David T. Humphreys, Diane Fatkin, Fan Wang, Nicole Schmitt, Søren-Peter Olesen, Anders Peter Larsen, Alex Hørby Christensen, Thomas Preiss, Filip K. Knop, Magdalena Soka, Inken G. Huttner, Guiscard Seebohm, Martin N. Andersen, Morten S. Olesen, Bo Liang, Jamie I. Vandenberg, Jonas B. Nielsen, Jesper Hastrup Svendsen, Stig Haunsø, Stefan A. Mann

Publikováno v: Journal of molecular and cellular cardiology. 67

The two-pore domain potassium channel, K2P3.1 (TASK-1) modulates background conductance in isolated human atrial cardiomyocytes and has been proposed as a potential drug target for atrial fibrillation (AF). TASK-1 knockout mice have a predominantly v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6b9e3958e836a25bfae93f7f36fce1
https://pubmed.ncbi.nlm.nih.gov/24374141

In-vivo characterisation and mutation screening of the cardiac two-pore potassium channel, TWIK-1

Autor: I. Martin, Diane Fatkin, Magdalena Soka, Alex Hørby Christensen

Publikováno v: Heart, Lung and Circulation. 23:e14

I. Martin , A. Christensen , M. Soka , D. Fatkin 1,2 Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia Faculty of Medicine, University of New South Wales, Kensington, New South Wales, Aus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::531c598b025917b701784b3d31e67598
https://doi.org/10.1016/j.hlc.2014.07.036