Browsing Biochemistry (Scholarly Articles) by Author "http://dx.doi.org/10.13039/501100001602"
Now showing items 1-7 of 7
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Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
Kenny, Elaine M.; Cormican, Paul; Furlong, Sarah; Heron, Eleisa; Kenny, Graham; Fahey, Ciara; Kelleher, Eric; Ennis, Sean; Tropea, Daniela; Anney, Richard; Corvin, Aiden P.; Donohoe, Gary; Gallagher, Louise; Gill, Michael; Morris, Derek W. (Springer Nature, 2013-10-15)Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes ... -
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
Morris, Derek W. (Oxford University Press (OUP), 2014-01-28)Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in ... -
Optimizing fluorescent protein expression for quantitative fluorescence microscopy and spectroscopy using herpes simplex thymidine kinase promoter sequences
Ali, Rizwan; Ramadurai, Sivaramakrishnan; Barry, Frank; Nasheuer, Heinz-Peter (Wiley, 2018-04-16)The modulation of expression levels of fluorescent fusion proteins (FFPs) is central for recombinant DNA technologies in modern biology as overexpression of proteins contributes to artifacts in biological experiments. In ... -
Population‐based identity‐by‐descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
Harold, Denise; Connolly, Siobhan; Riley, Brien P.; Kendler, Kenneth S.; McCarthy, Shane E.; McCombie, William R.; Richards, Alex; Owen, Michael J.; O'Donovan, Michael C.; Walters, James; Wellcome Trust Case Control Consortium 2; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Donohoe, Gary; Gill, Michael; Corvin, Aiden; Morris, Derek W. (Wiley, 2019-02-23)Genome‐wide association studies (GWASs) are highly effective at identifying common risk variants for schizophrenia. Rare risk variants are also important contributors to schizophrenia etiology but, with the exception of ... -
RIP2 enhances cell survival by activation of NF-ĸB in triple negative breast cancer cells
Jaafar, Rola; Mnich, Katarzyna; Dolan, Sarah; Hillis, Jennifer; Almanza, Aitor; Logue, Susan E.; Samali, Afshin; Gorman, Adrienne M. (Elsevier, 2018-02-06)Receptor-interacting protein 2 (RIP2) is an essential mediator of inflammation and innate immunity, but little is known about its role outside the immune system. Recently, RIP2 has been linked to chemoresistance of triple ... -
RNA from a simple-tandem repeat is required for sperm maturation and male fertility in Drosophila melanogaster
Mills, Wilbur Kyle; Lee, Yuh Chwen G.; Kochendoerfer, Antje M.; Dunleavy, Elaine M.; Karpen, Gary H. (eLife Sciences Publications, 2019-11-05)Tandemly-repeated DNAs, or satellites, are enriched in heterochromatic regions of eukaryotic genomes and contribute to nuclear structure and function. Some satellites are transcribed, but we lack direct evidence that ... -
Stress management at the ER: regulators of ER stress-induced apoptosis.
Gorman, Adrienne M.; Healy, Sandra J.M.; Jäger, Richard; Samali, Afshin (Elsevier, 2012-02-17)The endoplasmic reticulum (ER) is an elaborate cellular organelle essential for cell function and survival. Conditions that interfere with ER function lead to the accumulation and aggregation of unfolded proteins which are ...