Institute of Biomedical & Clinical Science: Recent submissions
Now showing items 21-25 of 1232
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PLIN1 haploinsufficiency causes a favorable metabolic profile
(Endocrine Society / Oxford University Press, 2 March 2022)CONTEXT: PLIN1 encodes Perilipin-1 which coats lipid droplets in adipocytes and is involved in droplet formation, triglyceride storage and lipolysis. Rare PLIN1 frameshift variants that extend the translated protein have ... -
Utility of Diabetes Type-Specific Genetic Risk Scores for the Classification of Diabetes Type Among Multiethnic Youth.
(American Diabetes Association, 21 March 2022)OBJECTIVE: Genetic risk scores (GRSs) aid classification of diabetes type in White European adult populations. We aimed to assess the utility of GRS in the classification of diabetes type among racially/ethnically diverse ... -
A flexible and shared information fine-mapping approach with an application to 33 cardiometabolic traits from a Ugandan cohort
(Springer Nature, 7 April 2022)Poster P17.026.A, 54th European Society of Human Genetics (ESHG) Conference, 28 - 31 August 2021 -
Rapid treatment of moderate to severe hypertension using a novel protocol in a single-centre, before and after interventional study.
(Springer Nature, 23 October 2019)Rapid treatment to target in hypertension may have beneficial effects on long-term outcomes. This has led to a new recommendation in the 2018 European hypertension guidelines for patients with grade II/III hypertension to ... -
Functional characterization of the schizophrenia associated gene AS3MT identifies a role in neuronal development
(Wiley, 19 June 2022)Genome-wide association studies (GWAS) have identified multiple genomic regions associated with schizophrenia, although many variants reside in noncoding regions characterized by high linkage disequilibrium (LD) making the ...