Unexpected impairment of

Arrhythmias Cardiovascular genetics

Journal

Nature cardiovascular research
ISSN: 2731-0590
Titre abrégé: Nat Cardiovasc Res
Pays: England
ID NLM: 9918284280206676

Informations de publication

Date de publication:
2023
Historique:
received: 16 01 2023
accepted: 15 11 2023
medline: 1 1 2023
pubmed: 1 1 2023
entrez: 26 4 2024
Statut: ppublish

Résumé

Timothy syndrome 1 (TS1) is a multi-organ form of long QT syndrome associated with life-threatening cardiac arrhythmias, the organ-level dynamics of which remain unclear. In this study, we developed and characterized a novel porcine model of TS1 carrying the causative p.Gly406Arg mutation in

Identifiants

pubmed: 38665938
doi: 10.1038/s44161-023-00393-w
pii: 393
pmc: PMC11041658
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1291-1309

Informations de copyright

© The Author(s) 2023.

Déclaration de conflit d'intérêts

Competing interestsA.P., R.D. and C.G. are employees of Avantea (Cremona, Italy). All other authors declare no conflict of interest.

Auteurs

Andreu Porta-Sánchez (A)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Andrea Mazzanti (A)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Carmen Tarifa (C)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Deni Kukavica (D)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Alessandro Trancuccio (A)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Muhammad Mohsin (M)

Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.

Elisa Zanfrini (E)

AVANTEA, Cremona, Italy.

Andrea Perota (A)

AVANTEA, Cremona, Italy.

Roberto Duchi (R)

AVANTEA, Cremona, Italy.

Kevin Hernandez-Lopez (K)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Miguel Eduardo Jáuregui-Abularach (ME)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Valerio Pergola (V)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.

Eugenio Fernandez (E)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Rossana Bongianino (R)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.

Elisa Tavazzani (E)

Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.

Patrick Gambelli (P)

Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.

Mirella Memmi (M)

Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.

Simone Scacchi (S)

Department of Mathematics, University of Milan, Milano, Italy.

Luca F Pavarino (LF)

Department of Mathematics, University of Pavia, Pavia, Italy.

Piero Colli Franzone (PC)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
AVANTEA, Cremona, Italy.
Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
Department of Mathematics, University of Milan, Milano, Italy.
Department of Mathematics, University of Pavia, Pavia, Italy.
Department of Pharmacology, University of Bari, Bari, Italy.
Cardiovascular Institute, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.

Giovanni Lentini (G)

Department of Pharmacology, University of Bari, Bari, Italy.

David Filgueiras-Rama (D)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Cardiovascular Institute, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.

Cesare Galli (C)

AVANTEA, Cremona, Italy.

Demetrio Julián Santiago (DJ)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Silvia G Priori (SG)

Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Classifications MeSH