Institute of Medical Education: Recent submissions
Now showing items 11-15 of 299
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Defining the clinical and molecular spectrum of inherited eye diseases in community settings
(University of Exeter College of Medicine and Health, 27 September 2021)Inherited eye diseases are an important contributor to the burden of childhood blindness globally. These conditions are often associated with significant phenotypic and genetic heterogeneity and are extremely difficult to ... -
Characterisation of the role of mitochondrial translocator protein 18kDa (TSPO) in the regulation of energy homeostasis
(University of Exeter College of Medicine and Health, 20 September 2021)Obesity is a chronic condition where the body’s ability to regulate energy balance is compromised. Prolonged consumption of saturated fatty acids triggers inflammation throughout the body, including the brain. Within the ... -
Public concern about, and desire for research into, the human health effects of marine plastic pollution: Results from a 15-country survey across Europe and Australia
(Elsevier, 17 June 2021)Marine plastic pollution is caused by humans and has become ubiquitous in the marine environment. Despite the widely acknowledged ecological consequences, the scientific evidence regarding detrimental human health impacts ... -
Regulatory genomic consequences of polygenic risk burden for Alzheimer’s disease
(University of Exeter Medical studies, 31 August 2021)Dementia is an umbrella term used to describe a group of symptoms associated with global cognitive impairment and is a major contributor to the global burden of disease; currently there are over 50 million individuals ... -
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
(Cell Press, 21 May 2021)Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare ...