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Calcium-release channels: structure and function of IP3 receptors and ryanodine receptors
KA Woll, F Van Petegem - Physiological Reviews, 2022 - journals.physiology.org
Ca2+-release channels are giant membrane proteins that control the release of Ca2+ from
the endoplasmic and sarcoplasmic reticulum. The two members, ryanodine receptors …
the endoplasmic and sarcoplasmic reticulum. The two members, ryanodine receptors …
Inherited cardiac arrhythmias
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome,
catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare …
catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare …
An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome
A Adler, V Novelli, AS Amin, E Abiusi, M Care… - Circulation, 2020 - ahajournals.org
Background: Long QT syndrome (LQTS) is the first described and most common inherited
arrhythmia. Over the last 25 years, multiple genes have been reported to cause this …
arrhythmia. Over the last 25 years, multiple genes have been reported to cause this …
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT
syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death …
syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death …
2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients: Developed in …
MJ Shah, MJ Silka, JNA Silva, S Balaji… - Cardiology in the …, 2021 - cambridge.org
In view of the increasing complexity of both cardiovascular implantable electronic devices
(CIEDs) and patients in the current era, practice guidelines, by necessity, have become …
(CIEDs) and patients in the current era, practice guidelines, by necessity, have become …
European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert …
Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
RNA modifications in cardiovascular health and disease
RNA is not always a faithful copy of DNA. Advances in tools enabling the interrogation of the
exact RNA sequence have permitted revision of how genetic information is transferred. We …
exact RNA sequence have permitted revision of how genetic information is transferred. We …
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
L Crotti, C Spazzolini, M Nyegaard… - European heart …, 2023 - academic.oup.com
Aims Calmodulinopathy due to mutations in any of the three CALM genes (CALM1–3)
causes life-threatening arrhythmia syndromes, especially in young individuals. The …
causes life-threatening arrhythmia syndromes, especially in young individuals. The …
Structural analyses of human ryanodine receptor type 2 channels reveal the mechanisms for sudden cardiac death and treatment
Ryanodine receptor type 2 (RyR2) mutations have been linked to an inherited form of
exercise-induced sudden cardiac death called catecholaminergic polymorphic ventricular …
exercise-induced sudden cardiac death called catecholaminergic polymorphic ventricular …
[PDF][PDF] From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies
In the early nineties, few years before the birth of Europace, the clinical and scientific world
of familial arrhythmogenic conditions was revolutionized by the identification of the first …
of familial arrhythmogenic conditions was revolutionized by the identification of the first …