Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design
Journal of Cardiovascular Development and Disease, 2020 Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by structural and electrical cardiac abnormalities, including myocardial fibro-fatty replacement.
Tyler L. Stevens +5 more
doaj +1 more source
Childhood Obesity and Familial Hypercholesterolemia: Genetic Diseases that Contribute to Cardiovascular Disease [PDF]
, 2014 Childhood obesity occurs as the result of an imbalance between caloric intake and energy expenditure. Genetic risk factors for obesity have become an area of research due to its permanency.
Caudle, Alyssa
core +1 more source
Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research [PDF]
, 2020 Roopa Rajan +41 more
openalex +1 more source
The Iberian Roma genetic variant server; population structure, susceptibility to disease and adaptive traits [PDF]
, 2023 Fabiola Mavillard +20 more
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Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Introduction Cognitive impairment and exercise intolerance are common in dialysis patients. Cerebral perfusion and oxygenation play a major role in both cognitive function and exercise execution; HD session per se aggravates cerebral ischemia in this population. This study aimed to compare cerebral oxygenation and perfusion at rest and in mild
Marieta P. Theodorakopoulou +10 more
wiley +1 more source
Journal of Education and Health PromotionBACKGROUND: A newborn with an untreatable genetic disorder could disrupt a family and affect parents’ mental health, psycho-social interaction, and parent–child relationships.
Marzyeh Kermanian +3 more
doaj +1 more source
FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi +5 more
wiley +1 more source
Recent advances in vasoactive intestinal peptide physiology and pathophysiology: focus on the gastrointestinal system. [PDF]
, 2019 Vasoactive intestinal peptide (VIP), a gut peptide hormone originally reported as a vasodilator in 1970, has multiple physiological and pathological effects on development, growth, and the control of neuronal, epithelial, and endocrine cell functions ...
Akiba, Yasutada +2 more
core
Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank [PDF]
, 2020 Sean J. Jurgens +13 more
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Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target
FEBS Letters, EarlyView.This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz +5 more
wiley +1 more source