Excited to share our preprint: “Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk!” We performed ~50,000 experimental measurements of KCNQ1 variants.
www.medrxiv.org/content/10.64898/2025.12.15.25341924v1
www.medrxiv.org/content/10.64898/2025.12.15.25341924v1
December 17, 2025 at 2:50 PM
Excited to share our preprint: “Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk!” We performed ~50,000 experimental measurements of KCNQ1 variants.
www.medrxiv.org/content/10.64898/2025.12.15.25341924v1
www.medrxiv.org/content/10.64898/2025.12.15.25341924v1
Our cryo-EM structure of the intermediate state of the KCNQ1 potassium channel is out. Collaborative effort with the David Fedida and Luca Maragliano labs. Cryo-EM work spearheaded by Efthimios Kyriakis, PhD
www.nature.com/articles/s41...
www.nature.com/articles/s41...
October 3, 2025 at 6:44 PM
Our cryo-EM structure of the intermediate state of the KCNQ1 potassium channel is out. Collaborative effort with the David Fedida and Luca Maragliano labs. Cryo-EM work spearheaded by Efthimios Kyriakis, PhD
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Next up at #VariantEffect25 we have Megan Lancaster presenting “Uncovering ion channel biology and predicting arrhythmia risk with KCNQ1 and SCN5A MAVEs” ⚡
May 21, 2025 at 8:18 AM
Next up at #VariantEffect25 we have Megan Lancaster presenting “Uncovering ion channel biology and predicting arrhythmia risk with KCNQ1 and SCN5A MAVEs” ⚡
Molecular assembly of the KCNQ1-KCNE1-BACE1 complex https://www.biorxiv.org/content/10.64898/2026.03.03.709230v1
March 5, 2026 at 2:49 AM
Molecular assembly of the KCNQ1-KCNE1-BACE1 complex https://www.biorxiv.org/content/10.64898/2026.03.03.709230v1
Long QT syndrome is a life-threatening cardiac arrhythmia for which current therapies don’t correct the molecular defect
Alfred L. George, Jr. & team now identify the first trafficking corrector for KCNQ1 mutations that cause LQTS: doi.org/10.1172/jci....
Alfred L. George, Jr. & team now identify the first trafficking corrector for KCNQ1 mutations that cause LQTS: doi.org/10.1172/jci....
March 17, 2026 at 11:01 AM
Long QT syndrome is a life-threatening cardiac arrhythmia for which current therapies don’t correct the molecular defect
Alfred L. George, Jr. & team now identify the first trafficking corrector for KCNQ1 mutations that cause LQTS: doi.org/10.1172/jci....
Alfred L. George, Jr. & team now identify the first trafficking corrector for KCNQ1 mutations that cause LQTS: doi.org/10.1172/jci....
New research led by Ana Chang-Gonzalez, PhD, uses machine learning to uncover how genetic variants disrupt KCNQ1, a cardiac ion channel linked to long QT syndrome.
Read more: www.vanderbilt.edu/csb/2026/10/...
@vubasicsciences.bsky.social
Read more: www.vanderbilt.edu/csb/2026/10/...
@vubasicsciences.bsky.social
Machine learning reveals how genetic variants disrupt a cardiac ion channel
Genetic testing can identify mutations linked to disease, but discovering a variant doesn’t always reveal what it means for a patient. Many genetic changes are classified as variants of uncertai...
www.vanderbilt.edu
October 2, 2026 at 1:50 PM
New research led by Ana Chang-Gonzalez, PhD, uses machine learning to uncover how genetic variants disrupt KCNQ1, a cardiac ion channel linked to long QT syndrome.
Read more: www.vanderbilt.edu/csb/2026/10/...
@vubasicsciences.bsky.social
Read more: www.vanderbilt.edu/csb/2026/10/...
@vubasicsciences.bsky.social
Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation https://www.biorxiv.org/content/10.1101/2025.10.31.685955v1
November 2, 2025 at 5:47 AM
Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation https://www.biorxiv.org/content/10.1101/2025.10.31.685955v1
Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants pubmed.ncbi.nlm.nih.gov/39671184/
December 14, 2024 at 1:55 PM
Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants pubmed.ncbi.nlm.nih.gov/39671184/
KCNQ1 regulates human neuronal development through mitochondrial and insulin signalling pathways https://www.biorxiv.org/content/10.64898/2025.12.04.692265v1
December 6, 2025 at 3:35 AM
KCNQ1 regulates human neuronal development through mitochondrial and insulin signalling pathways https://www.biorxiv.org/content/10.64898/2025.12.04.692265v1
The fully activated open state of KCNQ1 controls the cardiac 'fight-or-flight' response https://www.biorxiv.org/content/10.1101/2024.07.02.601749v1
The fully activated open state of KCNQ1 controls the cardiac 'fight-or-flight' response https://www.biorxiv.org/content/10.1101/2024.07.02.601749v1
The cardiac KCNQ1+KCNE1 (IKs) channel regulates heart rhythm in both normal and stress conditions. U
www.biorxiv.org
July 3, 2024 at 1:50 PM
The fully activated open state of KCNQ1 controls the cardiac 'fight-or-flight' response https://www.biorxiv.org/content/10.1101/2024.07.02.601749v1
HRMEM is proud to spotlight this structure of the cardiac potassium channel, KCNQ1, bound to its activator, ML277!
Shout to Katrien Willegems, Jodene Eldstrom, Efthimios Kyriakis, Fariba Ataei and researchers from the Fedida and Van Petegem Labs at UBC! 🔬🫀🧬
#cryoEM
www.nature.com/articles/s41...
Shout to Katrien Willegems, Jodene Eldstrom, Efthimios Kyriakis, Fariba Ataei and researchers from the Fedida and Van Petegem Labs at UBC! 🔬🫀🧬
#cryoEM
www.nature.com/articles/s41...
Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277 - Nature Communications
KCNQ1 channels are active in heart, brain and gut. Functional loss causes epilepsy and sudden arrhythmic death. Here, authors describe a key activator drug binding site, explaining isoform and drug se...
www.nature.com
May 26, 2025 at 9:46 PM
HRMEM is proud to spotlight this structure of the cardiac potassium channel, KCNQ1, bound to its activator, ML277!
Shout to Katrien Willegems, Jodene Eldstrom, Efthimios Kyriakis, Fariba Ataei and researchers from the Fedida and Van Petegem Labs at UBC! 🔬🫀🧬
#cryoEM
www.nature.com/articles/s41...
Shout to Katrien Willegems, Jodene Eldstrom, Efthimios Kyriakis, Fariba Ataei and researchers from the Fedida and Van Petegem Labs at UBC! 🔬🫀🧬
#cryoEM
www.nature.com/articles/s41...
New research published in @PNASNews explores how mutations in the KCNQ1 potassium channel lead to type 1 long QT syndrome (LQT1), a condition that increases the risk of life-threatening arrhythmias. Here’s a breakdown of the key findings.
www.pnas.org/doi/10.1073/...
www.pnas.org/doi/10.1073/...
PNAS
Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...
www.pnas.org
February 20, 2025 at 2:49 PM
New research published in @PNASNews explores how mutations in the KCNQ1 potassium channel lead to type 1 long QT syndrome (LQT1), a condition that increases the risk of life-threatening arrhythmias. Here’s a breakdown of the key findings.
www.pnas.org/doi/10.1073/...
www.pnas.org/doi/10.1073/...
We are excited to share the recent paper from @filipvanpetegem.bsky.social featuring cryo-EM structures of the KCNQ1 potassium channel collected at HRMEM!
#cryoEM #structuralbiology
www.nature.com/articles/s41...
#cryoEM #structuralbiology
www.nature.com/articles/s41...
www.nature.com
October 6, 2025 at 6:57 PM
We are excited to share the recent paper from @filipvanpetegem.bsky.social featuring cryo-EM structures of the KCNQ1 potassium channel collected at HRMEM!
#cryoEM #structuralbiology
www.nature.com/articles/s41...
#cryoEM #structuralbiology
www.nature.com/articles/s41...
The authors included RRIDs in their None paper! Thanks for making your methods matter! #methodsmatter #OpenScience #OpenScience
Decoding polyubiquitin regulation of KV7. 1 (KCNQ1) surface expression with engineered linkage-selective deubiquitinases
doi.org
July 23, 2025 at 7:01 AM
The authors included RRIDs in their None paper! Thanks for making your methods matter! #methodsmatter #OpenScience #OpenScience
A paper using RRID:AB_2848274 from @thermofishersci.bsky.social was just published in Stem Cell Research. We value the author's support of reproducibility. #ReproducibleResearch #reproducibility #STMpublishing
Derivation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient with a pathogenic KCNQ1 c.1552C > T (p.Arg518Ter) variant
Read the full paper: Derivation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient with a pathogenic KCNQ1 c.1552C > T (p.Arg518Ter) variant
doi.org
April 25, 2026 at 7:01 AM
A paper using RRID:AB_2848274 from @thermofishersci.bsky.social was just published in Stem Cell Research. We value the author's support of reproducibility. #ReproducibleResearch #reproducibility #STMpublishing
A paper using RRID:AB_2848274 from @thermofishersci.bsky.social was just published in Stem Cell Research. Thanks for making your methods matter! #methodsmatter #OpenResearch #reproducibility
Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant
Read the full paper: Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant
doi.org
May 2, 2026 at 7:01 AM
A paper using RRID:AB_2848274 from @thermofishersci.bsky.social was just published in Stem Cell Research. Thanks for making your methods matter! #methodsmatter #OpenResearch #reproducibility
The authors included RRIDs in their Oncogene paper! Thanks for making your methods matter! #OpenScience #RRID #STMpublishing
Cancer-associated loss-of-function mutations in KCNQ1 enhance Wnt/β-catenin signalling disrupting epithelial homeostasis
doi.org
May 31, 2025 at 7:00 AM
The authors included RRIDs in their Oncogene paper! Thanks for making your methods matter! #OpenScience #RRID #STMpublishing
Meet Katherine Clowes Moster, a talented graduate student in the Department of Biochemistry who is advancing our understanding of voltage-gated potassium channels, specifically KCNQ1, with implications for cardiac health.
read more: medschool.vanderbilt.edu/basic-scienc...
read more: medschool.vanderbilt.edu/basic-scienc...
December 11, 2025 at 7:31 PM
Meet Katherine Clowes Moster, a talented graduate student in the Department of Biochemistry who is advancing our understanding of voltage-gated potassium channels, specifically KCNQ1, with implications for cardiac health.
read more: medschool.vanderbilt.edu/basic-scienc...
read more: medschool.vanderbilt.edu/basic-scienc...
Among Amish carriers of a #LongQTSyndrome founder variant, return of results was well received, but beta-blocker use was low, highlighting gaps in cascade testing and treatment uptake. bit.ly/3JedYOt #GIMO #KCNQ1 #OldOrderAmish #ReturnOfResults #CascadeScreening
October 17, 2025 at 7:16 PM
Among Amish carriers of a #LongQTSyndrome founder variant, return of results was well received, but beta-blocker use was low, highlighting gaps in cascade testing and treatment uptake. bit.ly/3JedYOt #GIMO #KCNQ1 #OldOrderAmish #ReturnOfResults #CascadeScreening
A paper using RRID:AB_141607 from @thermofishersci.bsky.social was just published in Stem Cell Research. Thanks for making your methods matter! #RRID #OpenResearch #STMpublishing
Generation of pluripotent stem cell line (IPWi001-A) and a corresponding CRISPR/Cas9 modified isogenic rescue control (IPWi001-A-1) from a patient with arrhythmia-induced cardiomyopathy harboring a KCNQ1 truncating mutation
Read the full paper: Generation of pluripotent stem cell line (IPWi001-A) and a corresponding CRISPR/Cas9 modified isogenic rescue control (IPWi001-A-1) from a patient with arrhythmia-induced cardiomyopathy harboring a KCNQ1 truncating mutation
doi.org
February 11, 2026 at 8:01 AM
A paper using RRID:AB_141607 from @thermofishersci.bsky.social was just published in Stem Cell Research. Thanks for making your methods matter! #RRID #OpenResearch #STMpublishing
Variants were categorized into six mechanistic classes based on stability, trafficking, and functional data. This classification revealed that different regions of KCNQ1 contribute to disease through distinct mechanisms, emphasizing the need for personalized therapeutic strategies.
February 20, 2025 at 2:49 PM
Variants were categorized into six mechanistic classes based on stability, trafficking, and functional data. This classification revealed that different regions of KCNQ1 contribute to disease through distinct mechanisms, emphasizing the need for personalized therapeutic strategies.
🔬🫀 New research from Vanderbilt and Northwestern is shedding light on the genetic mechanisms behind a heart disorder called long QT syndrome. This breakthrough could help refine diagnosis and treatment strategies for patients with heart rhythm disorders.
Vanderbilt and Northwestern labs discover new mechanisms that cause irregular heartbeat
Vanderbilt and Northwestern University researchers characterized a group of KCNQ1 variants probe their role in a common heart disorder called LQTS. They found that there are five classes of mutatio…
medschool.vanderbilt.edu
March 6, 2025 at 5:15 PM
🔬🫀 New research from Vanderbilt and Northwestern is shedding light on the genetic mechanisms behind a heart disorder called long QT syndrome. This breakthrough could help refine diagnosis and treatment strategies for patients with heart rhythm disorders.
his comprehensive analysis not only advances understanding of KCNQ1 variant pathogenicity but also highlights the urgent need for better predictive tools and mechanism-based therapies to improve outcomes for patients with LQT1.
#Cardiology #LQTS #CellBiology
#Cardiology #LQTS #CellBiology
February 20, 2025 at 2:49 PM
his comprehensive analysis not only advances understanding of KCNQ1 variant pathogenicity but also highlights the urgent need for better predictive tools and mechanism-based therapies to improve outcomes for patients with LQT1.
#Cardiology #LQTS #CellBiology
#Cardiology #LQTS #CellBiology
RRID:AB_2848274 from @thermofishersci.bsky.social was used by authors in their Stem Cell Research paper. Thanks for making your methods matter! #ReproducibleResearch #OpenScience #BetterScience
Generation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient carrying the KCNQ1 c.343G > A p.(E115K) variant
Read the full paper: Generation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient carrying the KCNQ1 c.343G > A p.(E115K) variant
doi.org
September 25, 2026 at 7:01 AM
RRID:AB_2848274 from @thermofishersci.bsky.social was used by authors in their Stem Cell Research paper. Thanks for making your methods matter! #ReproducibleResearch #OpenScience #BetterScience
Authors used pcDNA3.1-TK1 from @addgene.bsky.social in their study. Including #RRIDs will make this less ambiguous.
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #OpenScience #RRID
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #OpenScience #RRID
Molecular assembly of the KCNQ1–KCNE1–BACE1 complex
www.biorxiv.org
March 8, 2026 at 12:00 PM
Authors used pcDNA3.1-TK1 from @addgene.bsky.social in their study. Including #RRIDs will make this less ambiguous.
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #OpenScience #RRID
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #OpenScience #RRID