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Keywords: Heart
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Journal Articles
Dis Model Mech (2024) 17 (5): dmm050397.
Published: 21 May 2024
... expression. In the heart, GR deletion acted additively with dystrophin loss to exacerbate cardiomyopathy, resulting in enlarged hearts, pathological gene expression and systolic dysfunction, consistent with imbalanced mineralocorticoid signaling. The results show that physiological GR functions provide...
Includes: Supplementary data
Journal Articles
Journal Articles
Dis Model Mech (2023) 16 (9): dmm050059.
Published: 29 September 2023
... a variant of unknown significance in the human congenital heart disease gene NKX2.5 (also known as NKX2-5 ). We generated an R321N allele of the NKX2.5 ortholog tinman ( tin ) to model a human K158N variant and tested its function in vitro and in vivo . The R321N Tin isoform bound poorly to DNA in vitro...
Journal Articles
Dis Model Mech (2023) 16 (5): dmm049961.
Published: 24 February 2023
...Lika Drakhlis; Robert Zweigerdt ABSTRACT The heart is the first functional organ established during embryogenesis. Investigating heart development and disease is a fascinating and crucial field of research because cardiovascular diseases remain the leading cause of morbidity and mortality worldwide...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2022) 15 (5): dmm049424.
Published: 9 May 2022
...Nicolas G. Clavere; Ali Alqallaf; Kerry A. Rostron; Andrew Parnell; Robert Mitchell; Ketan Patel; Samuel Y. Boateng ABSTRACT In the heart, ageing is associated with DNA damage, oxidative stress, fibrosis and activation of the activin signalling pathway, leading to cardiac dysfunction. The cardiac...
Includes: Supplementary data
Journal Articles
Journal Articles
Journal Articles
Dis Model Mech (2016) 9 (3): 235–244.
Published: 1 March 2016
... genes in the central nervous system, heart, liver and kidney, and provide examples of the use of these assays to address questions related to human diseases. These assays provide us with simple yet powerful tools to study the pathogenic mechanisms associated with human disease-causing genes. ERG...
Includes: Supplementary data