Accès ouvert
2026
article
OpenAlex
Max J. Cumberland, Albert Dasí, Naeramit Sontayananon, Alan Marcus et autres
AIMS: Titin truncating variants (TTNtv) are a major genetic cause of dilated cardiomyopathy (DCM), accounting for approximately 25% of familial cases. Atrial fibrillation (AF) frequently occurs in DCM patients carrying TTNtv and may precede overt ventricular dysfunction, suggesting an atrial-specific disease mechanism. …
gb, au, us, de
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Accès ouvert
2025
article
OpenAlex
Ashwin Roy, Christopher O’Shea, Albert Dasí, Leena K. Patel et autres
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-Gal A (α-galactosidase A) deficiency, resulting in multiorgan accumulation of sphingolipid, namely globotriaosylceramide. This triggers ventricular myocardial hypertrophy, fibrosis, and inflammation, driving arrhythmia and sudden death. Atrial fibrillation is common, …
gb, us, au, hr, de
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Ashwin Roy, Christopher O’Shea, Albert Dasi I Martinez, Leena K. Patel et autres
ABSTRACT Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency, resulting in multi-organ accumulation of sphingolipid, namely globotriaosylceramide (Gb3). This triggers ventricular myocardial hypertrophy, fibrosis, and inflammation, driving arrhythmia and sudden death, a common …
gb, au, de
(code pays fourni par la source)
2004
article
OpenAlex
S Tatnall, B. Slim, K. B. Kumar, L. Patel et autres
1978
article
OpenAlex
J. S. Jenkins, Caitlin Hall
1977
article
OpenAlex
J. S. Jenkins, Caitlin Hall
The metabolism of [14C]testosterone in vitro by various areas of the human foetal brain has been studied and compared with that of adult brain. The predominant metabolites were 5alpha-dihydrotestosterone and 5alpha-androstane-3alpha, 17beta-diol, and also androstenedione, and all areas of the foetal brain …