Results 271 to 280 of about 592,769 (337)

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

open access: yesEuropean Journal of Heart Failure, 2017
Joeri A Jansweijer   +19 more
semanticscholar   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

open access: yesCell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong   +9 more
wiley   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve   +26 more
wiley   +1 more source

Predictive value of ambulatory ECG monitoring for malignant arrhythmic events in genetic dilated cardiomyopathy. [PDF]

open access: yesEuropace
Venner MFGHM   +10 more
europepmc   +1 more source

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

open access: yesScience, 2015
J. T. Hinson   +20 more
semanticscholar   +1 more source

Eplerenone improves kidney function and cardiac performance in obese male mice

open access: yesDiabetic Medicine, EarlyView.
Abstract Aims Renin‐angiotensin‐aldosterone system (RAAS) activation mediates obesity‐associated cardiorenal dysfunction. Due to an incomplete understanding of the molecular mechanisms, the clinical use of RAAS antagonism in obesity‐associated cardiometabolic complications remains uncertain.
Ayman K. Banah   +8 more
wiley   +1 more source

TNNT2 Gene Polymorphisms are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in Kazak and Han Chinese

open access: hybrid, 2015
Yaodong Li   +7 more
openalex   +2 more sources

Relevance of cardiac parvovirus B19 in myocarditis and dilated cardiomyopathy: review of the literature

open access: yesEuropean Journal of Heart Failure, 2016
J. Verdonschot   +6 more
semanticscholar   +1 more source

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