#KCNH2
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biorxivpreprint.bsky.social
The circadian clock regulates KCNH2 (hERG) promoter activity through daily temperature rhythms. https://www.biorxiv.org/content/10.64898/2026.09.28.751769v1
September 29, 2026 at 3:30 PM
biorxiv-cellbio.bsky.social
The circadian clock regulates KCNH2 (hERG) promoter activity through daily temperature rhythms. https://www.biorxiv.org/content/10.64898/2026.09.28.751769v1
September 29, 2026 at 3:30 PM
chaiannng.bsky.social
Editorial by Barry London for our recent KCNH2 paper (DOI: 10.1161/CIRCULATIONAHA.124.069828).
#cardiosky
#ionchannels
DOI: 10.1161/CIRCULATIONAHA.124.072169
December 2, 2024 at 9:56 PM
chaiannng.bsky.social
I am pleased to share this @ahajournals.bsky.social CircGen paper. It is a team effort. I hope we have provided valuable insights on how KCNH2 variant that alters splicing and causes a large in-frame deletion can lead to a dominant negative effect of Kv11.1 K+ #ionchannel function.
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS | Circulation: Genomic and Precision Medicine
www.ahajournals.org
March 27, 2025 at 1:40 PM
chaiannng.bsky.social
As my first post, I present you with a summary figure of the patch-clamp data that was used in the #KCNH2 paper but it was not actually in the paper, but I quite like it, so I published it here at Bluesky🙂
November 20, 2024 at 8:59 AM
chaiannng.bsky.social
I am glad to be able to help this family to have their KCNH2 VUS reclassified to likely pathogenic by Blueprints

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome - Canadian Journal of Cardiology onlinecjc.ca/article/S082...
KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome
Congenital Long QT syndrome (LQTS) is an inherited arrhythmogenic disorder characterized by prolonged QTc intervals and T-wave abnormalities on electrocardiogram (ECG). Prolonged QT intervals can lead...
onlinecjc.ca
March 21, 2026 at 7:26 AM
varianteffect.bsky.social
Next to take the stage is Chai Ann (Andy) Ng, of the Victor Chang Cardiac Research Institute. His talk discusses the integration of MAVE and patch clamp data to improve classification and risk prediction in KCNH2-LQTS.

#VariantEffect26
#MAVEs #Cardiology
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 11:24 PM
epilepsiajournal.bsky.social
Atenolol reduced heart rate and QTc interval, without affecting seizure load in both mouse models of SUDEP.
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #atenolol #cardiacarrhythmia #KCNH2 #longQTsyndrome #SUDEP
October 2, 2025 at 1:43 PM
btbsunimib.bsky.social
#BtBsPUB by Luca Sala and co-authors "Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification" in CIRCULATION journal. #SalaLab_BtBs #BtBsUNIMIB #unimib www.ahajournals.org/doi/10.1161/...
Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification
November 26, 2024 at 2:13 PM
adnkronos.com
Sotto la lente un farmaco già utilizzato per la fibrosi cistica: apre nuove prospettive per pazienti portatori di specifiche varianti del gene Kcnh2
Sindrome Qt lungo e rischio arresto cardiaco, dall'Italia una terapia innovativa
ebx.sh
September 26, 2026 at 3:22 AM
victorchang.edu.au
#PaulKornerSeminar speaker @ChaiAnn_Ng asks "Can patch clamp data improve genetic diagnosis by helping to reclassify VUS in KCNH2?" in his presentation sharing his functional assessment for >450 missense KCNH2 variants provided by multiple international #LQTS cohorts.
December 10, 2024 at 3:07 AM
rridrobot.bsky.social
A paper using RRID:AB_2848274 from @thermofishersci.bsky.social was just published in None. Thanks for making your methods matter! #reproducibility #OpenScience #OpenScience
Generation of three induced pluripotent stem cell lines from a long QT syndrome type 2 family harboring the pathogenic KCNH2 c.209A > G (p.His70Arg) variant
doi.org
September 10, 2025 at 7:00 AM
chaiannng.bsky.social
We have previously demonstrated that functional data can inform us about the risk associated with KCNH2-LQTS (www.ahajournals.org/doi/10.1161/...). By using the same functional data, we asked what is the utility when applied in clinical setting by collaborate with Invitae Corp to reanalyse their VUS
July 31, 2025 at 1:11 AM
rridrobot.bsky.social
The authors included RRIDs in their in Frontiers in Pharmacology paper! Thanks for making your methods matter! #ReproducibleResearch #reproducibility #BetterScience
Frontiers | AI-driven network pharmacology and multi-omics validation identify KCNH2 as a prognostic biomarker and candidate therapeutic vulnerability of Acorus tatarinowii in glioblastoma
BackgroundGlioblastoma (GBM) remains a highly aggressive malignancy with limited effective therapeutic options. Integrating traditional medicine resources wi...
doi.org
May 10, 2026 at 7:03 AM
victorchang.edu.au
#RecentlyPublished Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology

ift.tt/3azrB6h
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ift.tt
December 5, 2024 at 2:34 AM
victorchanginst.bsky.social
Recently Published: Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay

dlvr.it/T1N8xn
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dlvr.it
January 29, 2025 at 2:47 AM
dzne.science
New paper out: Innervated human cardiac muscle model reveals sympathetic drivers of KCNH2-associated arrhythmias.: Schneider, Lennart Valentin; Setya, Michael Gani; Bao, Guobin; et al.
Nature Communications Vol. 17, no. 1, p. 9404 | Thanks for sharing #dzne #papers
Innervated human cardiac muscle model reveals sympathetic drivers of KCNH2-associated arrhythmias.
Schneider, Lennart Valentin; Setya, Michael Gani; Bao, Guobin; et al. Nature Communications Vol. 17, no. 1, p. 9404
dlvr.it
September 17, 2026 at 9:53 AM
jmccardiology.bsky.social
🚨 New in JMCC: A KCNH2 mutation alters L-type Ca²⁺ current gating in LQT2 cardiomyocytes. Estradiol corrects key Ca²⁺ current defects and shortens repolarization, yet may paradoxically preserve susceptibility to early afterdepolarizations⚡️

www.jmcc-online.com/article/S002...
September 2, 2026 at 1:03 PM
victorchang.edu.au
PaulKornerSeminar speaker @chaiannng.bsky.social discusses "Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2-Related Long-QT Syndrome", which was recently published in Circulation: Genomic and Precision Medicine: www.ahajournals.org/...
July 29, 2025 at 2:10 AM
victorchang.edu.au
Recently Published: Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification http://dlvr.it/TDck33
January 29, 2025 at 5:40 AM
victorchang.edu.au
Recently Published: Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

dlvr.it/TDck33
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dlvr.it
January 29, 2025 at 4:49 AM
victorchang.edu.au
Recently Published: Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification

dlvr.it/T3GMGf
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dlvr.it
January 29, 2025 at 4:28 AM
victorchang.edu.au
Team involving Prof @VandenbergJamie, Dr @ChaiAnn_Ng and Connie Jiang calibrated a gene variant function assay to provide strong level evidence for classification of KCNH2 variants in patients with long QT syndrome type 2:@HGGAdvances

pubmed.ncbi.nlm.nih.gov/?term=Jiang+C&…
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pubmed.ncbi.nlm.nih.gov
January 29, 2025 at 4:25 AM
victorchang.edu.au
Recently Published: Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay

dlvr.it/T1N8xn
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dlvr.it
January 29, 2025 at 4:24 AM
victorchang.edu.au
Recently Published: Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

dlvr.it/TDck33
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dlvr.it
December 10, 2024 at 4:06 AM