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Targeting the sarcomere in inherited cardiomyopathies
Variants in> 12 genes encoding sarcomeric proteins can cause various cardiomyopathies.
The two most common are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy …
The two most common are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy …
Sarcomere maturation: function acquisition, molecular mechanism, and interplay with other organelles
RE Ahmed, T Tokuyama, T Anzai… - … of the Royal …, 2022 - royalsocietypublishing.org
During postnatal cardiac development, cardiomyocytes mature and turn into adult ones.
Hence, all cellular properties, including morphology, structure, physiology and metabolism …
Hence, all cellular properties, including morphology, structure, physiology and metabolism …
[HTML][HTML] Generation of left ventricle-like cardiomyocytes with improved structural, functional, and metabolic maturity from human pluripotent stem cells
N Dark, MV Cosson, LI Tsansizi, TJ Owen, E Ferraro… - Cell Reports …, 2023 - cell.com
Decreased left ventricle (LV) function caused by genetic mutations or injury often leads to
debilitating and fatal cardiovascular disease. LV cardiomyocytes are, therefore, a potentially …
debilitating and fatal cardiovascular disease. LV cardiomyocytes are, therefore, a potentially …
Focal Adhesion's Role in Cardiomyocytes Function: From Cardiomyogenesis to Mechanotransduction
Mechanotransduction refers to the ability of cells to sense mechanical stimuli and convert
them into biochemical signals. In this context, the key players are focal adhesions (FAs) …
them into biochemical signals. In this context, the key players are focal adhesions (FAs) …
Advances in mechanical biomarkers
Mechanical biomarkers distinguish health conditions through quantitative mechanical
measurements. The emergence and establishment of nanotechnology in the last decades …
measurements. The emergence and establishment of nanotechnology in the last decades …
A comprehensive outlook on dilated cardiomyopathy (DCM): state-of-the-art developments with special emphasis on OMICS-based approaches
Dilated cardiomyopathy (DCM) remains an enigmatic cardiovascular disease (CVD)
condition characterized by contractile dysfunction of the myocardium due to dilation of the …
condition characterized by contractile dysfunction of the myocardium due to dilation of the …
[HTML][HTML] Navigating complexity in postural orthostatic tachycardia syndrome
Postural Orthostatic Tachycardia Syndrome (POTS) affects up to 1% of the US population,
predominantly women, and is characterized by a complex, elusive etiology and …
predominantly women, and is characterized by a complex, elusive etiology and …
Disruption of Z-disc function promotes mechanical dysfunction in human myocardium: evidence for a dual myofilament modulatory role by alpha-actinin 2
M Rodriguez Garcia, J Schmeckpeper… - International Journal of …, 2023 - mdpi.com
The ACTN2 gene encodes α-actinin 2, located in the Z-disc of the sarcomeres in striated
muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of …
muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of …
Myofilament-associated proteins with intrinsic disorder (MAPIDs) and their resolution by computational modeling
The cardiac sarcomere is a cellular structure in the heart that enables muscle cells to
contract. Dozens of proteins belong to the cardiac sarcomere, which work in tandem to …
contract. Dozens of proteins belong to the cardiac sarcomere, which work in tandem to …
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin
TGR Weston, M Rees, M Gautel… - WIREs Mechanisms of …, 2024 - Wiley Online Library
Titin, the so‐called “third filament” of the sarcomere, represents a difficult challenge for the
determination of damaging genetic variants. A single titin molecule extends across half the …
determination of damaging genetic variants. A single titin molecule extends across half the …