Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Chai Ann Ng"'
Autor:
Carus H. Y. Lau, Emelie Flood, Mark J. Hunter, Billy J. Williams-Noonan, Karen M. Corbett, Chai-Ann Ng, James C. Bouwer, Alastair G. Stewart, Eduardo Perozo, Toby W. Allen, Jamie I. Vandenberg
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract The fine tuning of biological electrical signaling is mediated by variations in the rates of opening and closing of gates that control ion flux through different ion channels. Human ether-a-go-go related gene (HERG) potassium channels have u
Externí odkaz:
https://doaj.org/article/972987d550f34a1a8904b0996298240b
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e77032 (2013)
Kv11.1 potassium channels are important for regulation of the normal rhythm of the heartbeat. Reduced activity of Kv11.1 channels causes long QT syndrome type 2, a disorder that increases the risk of cardiac arrhythmias and sudden cardiac arrest. Kv1
Externí odkaz:
https://doaj.org/article/48b150b69f2142b39e65ce7188b46504
The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating.
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31640 (2012)
Human ether-à-go-go-related gene (hERG) K(+) channels have unusual gating kinetics. Characterised by slow activation/deactivation but rapid inactivation/recovery from inactivation, the unique gating kinetics underlie the central role hERG channels p
Externí odkaz:
https://doaj.org/article/c738808abc224046af0e7d81d27c1e04
Autor:
Chai Ann Ng, Mark J Hunter, Matthew D Perry, Mehdi Mobli, Ying Ke, Philip W Kuchel, Glenn F King, Daniela Stock, Jamie I Vandenberg
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16191 (2011)
The cytoplasmic N-terminal domain of the human ether-a-go-go related gene (hERG) K+ channel is critical for the slow deactivation kinetics of the channel. However, the mechanism(s) by which the N-terminal domain regulates deactivation remains to be d
Externí odkaz:
https://doaj.org/article/cd58b092df8e48f98ebad7ea3a2f7210
Autor:
Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai-Ann Ng
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100270- (2024)
Summary: Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there is insufficient evidence to make a definitive genetic di
Externí odkaz:
https://doaj.org/article/45cd34fb97534a84883eace8c131e642
Autor:
Reema W. Aljassar, Qianyi Shen, Buthaina Albash, Jamie I. Vandenberg, Mohammad A. Ebrahim, Chai-Ann Ng
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101868- (2024)
Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the z-score, using a
Externí odkaz:
https://doaj.org/article/74bbb0ef9290474da5cd68717fed3959
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
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
Advances in next-generation sequencing have been exceptionally valuable for identifying variants in medically actionable genes. However, for most missense variants there is insufficient evidence to permit definitive classification of variants as beni
Externí odkaz:
https://doaj.org/article/a32dd2fd1ad84ff1a94824be606a5afb
Autor:
Connie Jiang, Ebony Richardson, Jessica Farr, Adam P. Hill, Rizwan Ullah, Brett M. Kroncke, Steven M. Harrison, Kate L. Thomson, Jodie Ingles, Jamie I. Vandenberg, Chai-Ann Ng
Publikováno v:
Am J Hum Genet
Modern sequencing technologies have revolutionized our detection of gene variants. However, in most genes, including KCNH2, the majority of missense variants are currently classified as variants of uncertain significance (VUSs). The aim of this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a7472e5490fc7d972477be7083dedf9
https://europepmc.org/articles/PMC9300752/
https://europepmc.org/articles/PMC9300752/
Autor:
Daniel J. Blackwell, Christian L Egly, Andrew M. Glazer, Bjorn C. Knollmann, Loren R. Vanags, Kenneth A. Matreyek, Brett M. Kroncke, Dan M. Roden, Chai Ann Ng, Marcia Blair, Devyn Mitchell, Jamie I. Vandenberg, Douglas M. Fowler, Krystian A. Kozek
Publikováno v:
Heart Rhythm
Background KCHN2 encodes the KV11.1 potassium channel responsible for IKr, a major repolarization current during the cardiomyocyte action potential. Variants in KCNH2 that lead to decreased IKr have been associated with long QT syndrome type 2 (LQT2)