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Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.
(2020-02-26)
BACKGROUND: There is increasing evidence that certain genetic variants increase the risk of schizophrenia and other neurodevelopmental disorders. Exome sequencing has been shown to have a high diagnostic yield for developmental ...
Weighted burden analysis of exome-sequenced late-onset Alzheimer's cases and controls provides further evidence for a role for PSEN1 and suggests involvement of the PI3K/Akt/GSK-3β and WNT signalling pathways.
(2020-02-05)
Previous studies have implicated common and rare genetic variants as risk factors for late-onset Alzheimer's disease (LOAD). Here, weighted burden analysis was applied to over 10,000 exome-sequenced subjects from the ...
Mini-review: Role of the PI3K/Akt pathway and tyrosine phosphatases in Alzheimer's disease susceptibility.
(2020-12-01)
A variety of findings from in vitro experiments and animal models support the hypothesis that one contribution to pathogenesis in Alzheimer's disease (AD) is enhanced phosphorylation of tau protein, which may be triggered ...
Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia?
(2020-10)
The aim of the investigation was to test whether genetic variants predicted to impair the functionality of SLC6A9, which codes for the GlyT-1 glycine transporter, are protective against schizophrenia. In an exome sequenced ...
Analysis of 50,000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral.
(Elsevier B.V., 2020-12-09)
BACKGROUND: Depression is moderately heritable but there is no common genetic variant which has a major effect on susceptibility. It is possible that some very rare variants could have substantial effect sizes and these ...
Editorial: Topical ethical issues in the publication of human genetics research
(2020-07)
This is the pre-peer reviewed version of the following article: Curtis, D. and Balloux, F. (2020), Editorial: Topical ethical issues in the publication of human genetics research. Annals of Human Genetics, 84: 313-314. ...
Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia.
(2020-07-29)
Rare genetic variants in LDLR, APOB and PCSK9 are known causes of familial hypercholesterolaemia and it is expected that rare variants in other genes will also have effects on hyperlipidaemia risk although such genes remain ...