Search Results - "Ng, Chai Ann"

Removal of the mechanoprotective influence of the cytoskeleton reveals PIEZO1 is gated by bilayer tension by Cox, Charles D., Bae, Chilman, Ziegler, Lynn, Hartley, Silas, Nikolova-Krstevski, Vesna, Rohde, Paul R., Ng, Chai-Ann, Sachs, Frederick, Gottlieb, Philip A., Martinac, Boris

“…Mechanosensitive ion channels are force-transducing enzymes that couple mechanical stimuli to ion flux. Understanding the gating mechanism of mechanosensitive…”
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High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1 by Kozek, Krystian A., Glazer, Andrew M., Ng, Chai-Ann, Blackwell, Daniel, Egly, Christian L., Vanags, Loren R., Blair, Marcia, Mitchell, Devyn, Matreyek, Kenneth A., Fowler, Douglas M., Knollmann, Bjorn C., Vandenberg, Jamie I., Roden, Dan M., Kroncke, Brett M.

“…KCHN2 encodes the KV11.1 potassium channel responsible for IKr, a major repolarization current during the cardiomyocyte action potential. Variants in KCNH2…”
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Getting to the heart of hERG K+ channel gating by Perry, Matthew D., Ng, Chai‐Ann, Mann, Stefan A., Sadrieh, Arash, Imtiaz, Mohammad, Hill, Adam P., Vandenberg, Jamie I.

“…Potassium ion channels encoded by the human ether‐a‐go‐go related gene (hERG) form the ion‐conducting subunit of the rapid delayed rectifier potassium current…”
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Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations by Li, Jinyuan Vero, Ng, Chai-Ann, Cheng, Delfine, Zhou, Zijing, Yao, Mingxi, Guo, Yang, Yu, Ze-Yan, Ramaswamy, Yogambha, Ju, Lining Arnold, Kuchel, Philip W., Feneley, Michael P., Fatkin, Diane, Cox, Charles D.

“…Mechanosensitive channels are integral membrane proteins that sense mechanical stimuli. Like most plasma membrane ion channel proteins they must pass through…”
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Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay by Thomson, Kate L., Jiang, Connie, Richardson, Ebony, Westphal, Dominik S., Burkard, Tobias, Wolf, Cordula M., Vatta, Matteo, Harrison, Steven M., Ingles, Jodie, Bezzina, Connie R., Kroncke, Brett M., Vandenberg, Jamie I., Ng, Chai-Ann

“…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…”
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When it takes two to get one into trouble by Ng, Chai-Ann, Vandenberg, Jamie I.

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A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2 by Ng, Chai-Ann, Ullah, Rizwan, Farr, Jessica, Hill, Adam P, Kozek, Krystian A, Vanags, Loren R, Mitchell, Devyn W, Kroncke, Brett M, Vandenberg, Jamie I

“…Many genes, including KCNH2, contain "hotspot" domains associated with a high density of variants associated with disease. This has led to the suggestion that…”
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High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants by Ng, Chai-Ann, Perry, Matthew D., Liang, Whitney, Smith, Nicola J., Foo, Brian, Shrier, Alvin, Lukacs, Gergely L., Hill, Adam P., Vandenberg, Jamie I.

“…KCNH2 encodes the human ether-à-go-go-related gene potassium channel, which passes the rapid delayed rectifier potassium current. Loss-of-function variants in…”
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Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes by Ma, Joanne G, Vandenberg, Jamie I, Ng, Chai-Ann

“…Advances in next-generation sequencing have been exceptionally valuable for identifying variants in medically actionable genes. However, for most missense…”
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A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome by Jiang, Connie, Richardson, Ebony, Farr, Jessica, Hill, Adam P, Ullah, Rizwan, Kroncke, Brett M, Harrison, Steven M, Thomson, Kate L, Ingles, Jodie, Vandenberg, Jamie I, Ng, Chai-Ann

“…Modern sequencing technologies have revolutionized our detection of gene variants. However, in most genes, including KCNH2, the majority of missense variants…”
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Potassium dependent structural changes in the selectivity filter of HERG potassium channels by Lau, Carus H. Y., Flood, Emelie, Hunter, Mark J., Williams-Noonan, Billy J., Corbett, Karen M., Ng, Chai-Ann, Bouwer, James C., Stewart, Alastair G., Perozo, Eduardo, Allen, Toby W., Vandenberg, Jamie I.

“…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…”
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Multiple Interactions between Cytoplasmic Domains Regulate Slow Deactivation of Kv11.1 Channels by Ng, Chai Ann, Phan, Kevin, Hill, Adam P., Vandenberg, Jamie I., Perry, Matthew D.

“…The intracellular domains of many ion channels are important for fine-tuning their gating kinetics. In Kv11.1 channels, the slow kinetics of channel…”
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Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome by Kaizer, Alexander M, Winbo, Annika, Clur, Sally-Ann B, Etheridge, Susan P, Ackerman, Michael J, Horigome, Hitoshi, Herberg, Ulrike, Dagradi, Federica, Spazzolini, Carla, Killen, Stacy A S, Wacker-Gussmann, Annette, Wilde, Arthur A M, Sinkovskaya, Elena, Abuhamad, Alfred, Torchio, Margherita, Ng, Chai-Ann, Rydberg, Annika, Schwartz, Peter J, Cuneo, Bettina F

“…Abstract Aims In long QT syndrome (LQTS), primary prevention improves outcome; thus, early identification is key. The most common LQTS phenotype is a foetal…”
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Multiscale cardiac modelling reveals the origins of notched T waves in long QT syndrome type 2 by Sadrieh, Arash, Domanski, Luke, Pitt-Francis, Joe, Mann, Stefan A, Hodkinson, Emily C, Ng, Chai-Ann, Perry, Matthew D, Taylor, John A, Gavaghan, David, Subbiah, Rajesh N, Vandenberg, Jamie I, Hill, Adam P

“…The heart rhythm disorder long QT syndrome (LQTS) can result in sudden death in the young or remain asymptomatic into adulthood. The features of the surface…”
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Integration of validated functional evidence to support the pathogenicity of KCNH2 variants by Aljassar, Reema W., Shen, Qianyi, Albash, Buthaina, Vandenberg, Jamie I., Ebrahim, Mohammad A., Ng, Chai-Ann

“…Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the…”
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The S1 helix critically regulates the finely tuned gating of Kv11.1 channels by Phan, Kevin, Ng, Chai Ann, David, Erikka, Shishmarev, Dmitry, Kuchel, Philip W., Vandenberg, Jamie I., Perry, Matthew D.

“…Congenital mutations in the cardiac Kv11.1 channel can cause long QT syndrome type 2 (LQTS2), a heart rhythm disorder associated with sudden cardiac death…”
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The N-terminal tail of hERG contains an amphipathic α-helix that regulates channel deactivation by Ng, Chai Ann, Hunter, Mark J, Perry, Matthew D, Mobli, Mehdi, Ke, Ying, Kuchel, Philip W, King, Glenn F, Stock, Daniela, Vandenberg, Jamie I

“…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…”
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Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation by Ng, Chai-Ann, Gravel, Andrée E., Perry, Matthew D., Arnold, Alexandre A., Marcotte, Isabelle, Vandenberg, Jamie I.

“…Slow deactivation of Kv11.1 channels is critical for its function in the heart. The S4-S5 linker, which joins the voltage sensor and pore domains, plays a…”
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Voltage-sensing domain mode shift is coupled to the activation gate by the N-terminal tail of hERG channels by Tan, Peter S, Perry, Matthew D, Ng, Chai Ann, Vandenberg, Jamie I, Hill, Adam P

“…Human ether-a-go-go-related gene (hERG) potassium channels exhibit unique gating kinetics characterized by unusually slow activation and deactivation. The N…”
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Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology by Ng, Chai-Ann, Farr, Jessica, Young, Paul, Windley, Monique J, Perry, Matthew D, Hill, Adam P, Vandenberg, Jamie I

“…Abstract KCNH2 is one of the 59 medically actionable genes recommended by the American College of Medical Genetics for reporting of incidental findings from…”
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