Outputs (212)

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016)
Journal Article
Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., Thienpont, B., …Hurles, M. E. (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060-1065. https://doi.org/10.1038/ng.3627

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%. Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%), suggesting a considerable role for de novo mutations (DNMs) an... Read More about Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

A genetic assay for gene essentiality in Clostridium (2016)
Journal Article
Walker, D. J., Heap, J. T., Winzer, K., & Minton, N. P. (2016). A genetic assay for gene essentiality in Clostridium. Anaerobe, 42, 40-43. https://doi.org/10.1016/j.anaerobe.2016.07.007

Essential genes of pathogens are potential therapeutic targets, but are difficult to verify. Here, gene essentiality was determined by targeted knockout following engineered gene duplication. Null mutants of candidate essential genes of Clostridium d... Read More about A genetic assay for gene essentiality in Clostridium.

Open Source Drug Discovery with the Malaria Box Compound Collection for Neglected Diseases and Beyond (2016)
Journal Article
Phillips, M. A., Van Voorhis, W. C., Adams, J. H., Adelfio, R., Ahyong, V., Akabas, M. H., …Willis, P. A. (2016). Open Source Drug Discovery with the Malaria Box Compound Collection for Neglected Diseases and Beyond. PLoS Pathogens, 12(7), Article e1005763. https://doi.org/10.1371/journal.ppat.1005763

A major cause of the paucity of new starting points for drug discovery is the lack of interaction between academia and industry. Much of the global resource in biology is present in universities, whereas the focus of medicinal chemistry is still larg... Read More about Open Source Drug Discovery with the Malaria Box Compound Collection for Neglected Diseases and Beyond.

Ultrasound induced fluorescence of nanoscale liposome contrast agents (2016)
Journal Article
Zhang, Q., Morgan, S. P., O’Shea, P., & Mather, M. L. (2016). Ultrasound induced fluorescence of nanoscale liposome contrast agents. PLoS ONE, 11(7), 1-15. https://doi.org/10.1371/journal.pone.0159742

A new imaging contrast agent is reported that provides an increased fluorescent signal upon application of ultrasound (US). Liposomes containing lipids labelled with pyrene were optically excited and the excimer fluorescence emission intensity was de... Read More about Ultrasound induced fluorescence of nanoscale liposome contrast agents.

On the combined effects of normobaric hypoxia and bed rest upon bone and mineral metabolism: Results from the PlanHab study (2016)
Journal Article
Rittweger, J., Debevec, T., Frings-Meuthen, P., Lau, P., Mittag, U., Ganse, B., …Mekjavic, I. B. (2016). On the combined effects of normobaric hypoxia and bed rest upon bone and mineral metabolism: Results from the PlanHab study. BONE, 91, 130-138. https://doi.org/10.1016/j.bone.2016.07.013

Bone losses are common as a consequence of unloading and also in patients with chronic obstructive pulmonary disease (COPD). Although hypoxia has been implicated as an important factor to drive bone loss, its interaction with unloading remains unreso... Read More about On the combined effects of normobaric hypoxia and bed rest upon bone and mineral metabolism: Results from the PlanHab study.

Adverse effects of anti-tuberculosis drugs on HepG2 cell bioenergetics (2016)
Journal Article
Elmorsy, E., Attalla, S., Fikry, E., Kocon, A., Turner, R., Christie, D., …Carter, W. (in press). Adverse effects of anti-tuberculosis drugs on HepG2 cell bioenergetics. Human and Experimental Toxicology, https://doi.org/10.1177/0960327116660751

Tuberculosis (TB) is an intractable chronic infection. Disease treatment with anti-TB drugs remains challenging due to drug-induced hepatotoxicity. The toxicity of the anti-TB drugs rifampicin (RIF), isoniazid (INH) and pyrazinamide (PZA) either alon... Read More about Adverse effects of anti-tuberculosis drugs on HepG2 cell bioenergetics.

Risk of venous thromboembolism in hospitalised cancer patients in England – A cohort study (2016)
Journal Article
Ratib, S., Walker, A. J., Card, T. R., & Grainge, M. J. (2016). Risk of venous thromboembolism in hospitalised cancer patients in England – A cohort study. Journal of Hematology and Oncology, 9, Article 60. https://doi.org/10.1186/s13045-016-0291-0

Background: Venous thromboembolism (VTE) is a well-recognised and life-threatening complication in patients with cancer. However, the precise risk of VTE in hospitalised cancer patients in England has not been previously reported.
Methods: We condu... Read More about Risk of venous thromboembolism in hospitalised cancer patients in England – A cohort study.

Real-time selective sequencing using nanopore technology (2016)
Journal Article
Loose, M., Malla, S., & Stout, M. (in press). Real-time selective sequencing using nanopore technology. Nature Methods, 13(9), https://doi.org/10.1038/nmeth.3930

The Oxford Nanopore Technologies MinION sequencer enables the selection of specific DNA molecules for sequencing by reversing the driving voltage across individual nanopores. To directly select molecules for sequencing, we used dynamic time warping t... Read More about Real-time selective sequencing using nanopore technology.

Mass spectrometry insights into a tandem ubiquitin-binding domain hybrid engineered for the selective recognition of unanchored polyubiquitin (2016)
Journal Article
Scott, D., Garner, T. P., Long, J., Strachan, J., Mistry, S. C., Bottrill, A. R., …Layfield, R. (in press). Mass spectrometry insights into a tandem ubiquitin-binding domain hybrid engineered for the selective recognition of unanchored polyubiquitin. Proteomics, 16(14), https://doi.org/10.1002/pmic.201600067

Unanchored polyubiquitin chains are emerging as importanregulators of cellular physiology with diverse roles paralleling those of substrate-conjugated polyubiquitin. However tools able to discriminate unanchored polyubiquitin chains of different isop... Read More about Mass spectrometry insights into a tandem ubiquitin-binding domain hybrid engineered for the selective recognition of unanchored polyubiquitin.

Systematic and detailed analysis of behavioural tests in the rat middle cerebral artery occlusion model of stroke: Tests for long-term assessment (2016)
Journal Article
Trueman, R. C., Diaz, C., Farr, T. D., Harrison, D. J., Fuller, A., Tokarczuk, P. F., …Dunnett, S. B. (2017). Systematic and detailed analysis of behavioural tests in the rat middle cerebral artery occlusion model of stroke: Tests for long-term assessment. Journal of Cerebral Blood Flow and Metabolism, 37(4), 1349-1361. https://doi.org/10.1177/0271678X16654921

In order to test therapeutics, functional assessments are required. In pre-clinical stroke research, there is little consensus regarding the most appropriate behavioural tasks to assess deficits; especially when testing over extended times in milder... Read More about Systematic and detailed analysis of behavioural tests in the rat middle cerebral artery occlusion model of stroke: Tests for long-term assessment.