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

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

Publikováno v: Circ Genom Precis Med

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 n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::945820691bcdde1e027da6e9bb57eee1
https://pubmed.ncbi.nlm.nih.gov/33629867

A heterozygous variant in the human cardiac miR-133 gene, MIR133A2, alters miRNA duplex processing and strand abundance

Autor: Thomas Preiss, Elizabeth Anderson, David T. Humphreys, Diane Fatkin, Monique Ohanian

Publikováno v: BMC Genetics

Background MicroRNAs (miRNAs) are small non-coding RNAs that post-transcriptionally regulate gene expression. Sequential cleavage of miRNA precursors results in a ~22 nucleotide duplex of which one strand, the mature miRNA, is typically loaded into t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd30cacb3ad6f94077a93caef4b15058
https://doi.org/10.1186/1471-2156-14-18

R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy

Autor: Monique Ohanian, Stefan A. Mann, Kathryn Stockhammer, Diane Fatkin, Angela Sheu, Poonam Zodgekar, Jamie I. Vandenberg, Guanglan Guo, Rajesh N. Subbiah, Maria Leticia Castro, Dennis L. Kuchar, Anu Aggarwal, David Playford, T. Thompson

Publikováno v: Journal of the American College of Cardiology. 60(16)

Objectives Our aim was to characterize a variant in the SCN5A gene that encodes the alpha-subunit of the cardiac sodium channel, Nav1.5, which was identified in 1 large kindred with dilated cardiomyopathy (DCM) and multiple arrhythmias, including pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d17ddedd63f5d359fdb6ca806e0d2b1
https://pubmed.ncbi.nlm.nih.gov/22999724

Epistatic Effects of Potassium Channel Variation on Cardiac Repolarization and Atrial Fibrillation Risk

Autor: Diane Fatkin, Lina Karlsdotter, Lyn R. Griffiths, Robyn Otway, Monique Ohanian, Gunjan Trivedi, Bruce D. Walker, Prashanthan Sanders, Magdalena Soka, Robert A. Smith, Stefan A. Mann, Rajesh N. Subbiah, Dennis L. Kuchar, Merridee A. Wouters, Poonam Zodgekar, Jamie I. Vandenberg, Guanglan Guo

Publikováno v: Journal of the American College of Cardiology. (11):1017-1025

ObjectivesThe aim of this study was to evaluate the role of cardiac K+ channel gene variants in families with atrial fibrillation (AF).BackgroundThe K+ channels play a major role in atrial repolarization but single mutations in cardiac K+ channel gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb71305198982ccdd62d63c61c47b1e