Results 71 to 80 of about 138,611 (238)
Neurology, 2005 To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom.Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2.
Davies, N. P. +19 more
openaire +4 more sources
Advancing conservation breeding programs for marine invertebrates
Conservation Biology, EarlyView.Abstract In the face of ecosystem change and biodiversity loss caused by climate change and other stressors, conservation breeding, or captive breeding, with the aim of reintroduction for wild population recovery, is an emerging tool for preventing species’ extinction and rehabilitating ecosystems.
Elora H. López‐Nandam +3 more
wiley +1 more source
Frontiers in Cellular Neuroscience, 2018 Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-
Anna Binda +7 more
doaj +1 more source
Post-transcriptional regulation of satellite cell quiescence by TTP-mediated mRNA decay. [PDF]
, 2015 Skeletal muscle satellite cells in their niche are quiescent and upon muscle injury, exit quiescence, proliferate to repair muscle tissue, and self-renew to replenish the satellite cell population.
Blackshear, Perry J +7 more
core +2 more sources
Obstructive sleep apnoea is associated with accelerated progression of diabetic kidney disease
Diabetic Medicine, EarlyView.Abstract Aim Persons with type 2 diabetes and diabetic kidney disease (DKD) are at high risk of end‐stage kidney disease or death. We investigated the possible contribution of obstructive sleep apnoea (OSA) to decline in kidney function and renal outcomes.
Sebastian Nielsen +9 more
wiley +1 more source
Andersen-Tawil syndrome — Periodic paralysis with dysmorphism
Indian Pediatrics, 2011 Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance.
Mahesh, Kamate, Vivek, Chetal
openaire +2 more sources
European Journal of Haematology, EarlyView.ABSTRACT Adult hemophagocytic lymphohistiocytosis (HLH) is a rare, life‐threatening syndrome triggered by various conditions. A nationwide study of the incidence and outcomes of HLH in Denmark over 23 years (2000–2023) was performed. Adults (≥ 18 years) with HLH and triggering diseases were identified in the Danish National Patient Registry and/or the ...
Mads Okkels Birk Lorenzen +8 more
wiley +1 more source
Türk Kardiyoloji Derneği Arşivi, 2018 Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities.
Yakup Ergül +3 more
doaj +1 more source
Balancing stress and recovery in sports [PDF]
, 2010 To reach elite level in sports, athletes have to start their intensive and time-consuming training at an early stage. The road to the top is a stressful one, not only due to the physiological stress of training, but also caused by psychological and ...
Brink, Michel Sanne,
core +2 more sources
HIV Medicine, EarlyView.Abstract Background Age‐related comorbidities occur earlier and more frequently in people with HIV (PWH) than in the general population and have emerged as a key challenge in long‐term HIV care. Unfortunately, many of these conditions remain undiagnosed, and systematic screening in clinical practice remains limited.
Anna Katrine Haslund Roed +4 more
wiley +1 more source