Arrhythmogenic Cardiomyopathy Is a New Phenotype Associated With the <i>CACNA1C</i> p.Arg518Cys (R518C) Variant:
Thrilled to share our new paper @jaccjournals.bsky.social EP
For the first time, we show that a #CACNA1C variant (p.Arg518Cys) can cause arrhythmogenic cardiomyopathy (ACM), evolving from childhood long-QT syndrome type 8 (#LQT8) to adult-onset #ACM.
www.jacc.org/doi/10.1016/...
23.08.2025 09:37 — 👍 3 🔁 0 💬 1 📌 0
Many thanks!
07.02.2025 11:27 — 👍 1 🔁 0 💬 0 📌 0
I did that starter pack thing for cardiovascular genetics #cardiogen and I’ll keep adding people as they join! Let me know if you’d like to be included go.bsky.app/4NjCKhB
09.11.2024 21:37 — 👍 43 🔁 7 💬 15 📌 3
I would be delighted to be added to the group! @jodieingles27.bsky.social
05.02.2025 23:46 — 👍 1 🔁 0 💬 1 📌 0
Honored to have spoken at the #JESFC about inherited arrhythmia syndromes and syncope
#LongQTSyndrome #Brugada #CPVT #Andersen-TawilSyndrome #TimothySyndrome #ShortQTSyndrome
www.cardio-online.fr/Lectures/202...
@hospicescivilslyon.bsky.social @hcl-recherche.bsky.social
18.01.2025 11:56 — 👍 3 🔁 0 💬 0 📌 0
Physician, Educator, Researcher, Optimist, Musician, and Empath. MDS, chimera, allo BMT survivor. 💪
#MedSky
A career network featuring science jobs in academia and industry.
Visit our platform at www.science.hr
Mito & Heart Transplant Mom • Radiation Oncologist • Vice Chair of Community and Belonging • Board Member: United Mitochondrial Disease Foundation (UMDF) & Enduring Hearts (pediatric heart transplant research)
The Journal of Physiology publishes original research in all areas of physiology and pathophysiology that illustrates new physiological principles or mechanisms.
Genetic Counselor, GeneDx, GCA Coordinator, Educator, Laboratory Genetics
International meeting on Laminopathies
21-23 May, Paris
More information: www.laminopathies.net
President of the @ec.europa.eu
Mother of seven. Brussels-born. European by heart. 🇪🇺
Biologist recognized worldwide for her groundbreaking work leading to the revolutionary CRISPR-Cas9 genome engineering technology.
Visit: <www.emmanuelle-charpentier.org>
Using genome engineering to solve humanity’s greatest problems in health, climate & sustainable agriculture. UC Berkeley, UCSF, UC Davis. https://innovativegenomics.org/
Doudna Lab at UC Berkeley, Innovative Genomics Institute founder, CRISPR co-inventor and Nobel laureate innovativegenomics.org/
News from Jennifer Doudna's lab at UC Berkeley, Innovative Genomics Institute. Tweets from lab members and not Jennifer Doudna unless signed JD. Tweets represent personal views only.
doudnalab.org
AI slop (except one) enjoyer
We conduct cutting-edge research into the genetic basis of cardiovascular disease, and translate our findings to clinical practice to save lives at the University of Iowa.
Cnrs Research director
Centre Melis, Université Claude Bernard Lyon 1, CNRS, INSERM
Co-founder and Scientific director of Oncofactory
Delivering world-class bioinformatics training in data-driven life sciences virtually, and onsite at EMBL's European Bioinformatics Institute in Hinxton, UK.
www.ebi.ac.uk/training
EMBL's European Bioinformatics Institute (EMBL-EBI) provides open biological data resources and tools, and performs basic research in computational biology. https://www.ebi.ac.uk/
The European Molecular Biology Laboratory drives visionary basic research and technology development in the life sciences. www.embl.org
Non-for-profit publication of research in molecular, cell & organismal biology - as part of @embopress.org
Fast-fair-transparent / Open Access / Open Science
Non-profit publisher of @embojournal.org, @emboreports.org, @embomolmed.org, @molsystbiol.org and @lsajournal.org. #OpenScience #Policy
