Publications

Publication: JAMA Cardiology

Lotta LA, Stewart ID, Sharp SJ, Day FR, Burgess S, Luan J, et al.

19 September 2018

Are genetically determined differences in lipoprotein lipase (LPL)–mediated lipolysis and low-density lipoprotein cholesterol (LDL-C)–lowering pathways independently associated with risk of coronary disease and diabetes?

In this genetic association study including 392 220 people, triglyceride-lowering alleles in LPL or its inhibitor ANGPTL4 were associated with lower risk of coronary artery disease and type 2 diabetes in a consistent fashion across quantiles of the population distribution of LDL-C–lowering alleles.

For a given genetic difference in LDL-C, the association with lower risk of coronary disease conveyed by rare loss-of-function variants in ANGPTL3, which are associated with lower LDL-C levels and enhanced LPL lipolysis, was greater than that conveyed by other LDL-C–lowering genetic mechanisms.

Meaning LPL-mediated lipolysis and LDL-C–lowering mechanisms independently contribute to the risk of coronary disease and diabetes, which supports the development of LPL-enhancing agents for use in the context of LDL-C–lowering therapy.

Publication: PNAS

Forbester JL, Lees EA, Goulding D, Forrest S, Yeung A, Speak A, Clare S, Coomber EL, Mukhopadhyay S, Kraiczy J, Schreiber F, Lawley TD, Hancock REW, Uhlig HH, Zilbauer M, Powrie F, Dougan G.

14 September 2018

Publication: Cell Metabolism

Son SM, Park SJ, Lee H, Siddiqi F, Lee JE, Menzies FM, et al.

6 September 2018

Publication: Nature

Lee-Six H, Øbro NF, Shepherd MS, Grossmann S, Dawson K, Belmonte M, Osborne RJ, Huntly BJP, Martincorena I, Anderson E, O’Neill L, Stratton MR, Laurenti E, Green AR, Kent DG, Campbell PJ.

5 September 2018

Publication: American Society for Microbiology

Mather AE, Phuong TLT, Gao Y, Clare S, Mukhopadhyay S, Goulding DA, Hoang NTD, Tuyen HT, Lan NPH, Thompson CN, Trang NHT, Carrique-Mas J, Tue NT, Campbell JI, Rabaa MA, Thanh DP, Harcourt K, Hoa NT, Trung NV, Schultsz C, Perron GG, Coia JE, Brown DJ, Okoro C, Parkhill J, Thomson NR, Chau NVV, Thwaites GE, Maskell DJ, Dougan G, Kenney LJ, Baker S.

4 September 2018

Publication: The Lancet Infectious Diseases

Fisher H, Oluboyede Y, Chadwick T, Abdel-Fattah M, Brennand C, Fader M, Harrison S, Hilton P, Larcombe J, Little P, McClurg D, McColl E, N’Dow J, Ternent L, Thiruchelvam N, Timoney A, Vale L, Walton K, von Wilamowitz-Moellendorff A, Wilkinson J, Wood R, Pickard R.

1 September 2018

Publication: Neurobiology of Aging

Mak E, Padilla C, Annus T, Wilson LR, Hong YT, Fryer TD, Coles JP, Aigbirhio FI, Menon DK, Nestor PJ, Zaman SH.

August 2018

Publication: LancetThe Lancet Child & Adolescent Health

Gaccioli F, Sovio U, Cook E, Hund M, Charnock-Jones DS, Smith GCS. 

August 2018

Publication: Science

Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, Al Zahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S.

24 August 2018

Publication: Journal of Hepatology.

Forrest EH, Atkinson SR, Richardson P, Masson S, Ryder S, Thursz MR, Allison M; STOPAH Trial Management Group.

24 August 2018

Publication: Nature Communications

Yao C, Chen G, Song C, Keefe J, Mendelson M, Huan T, et al. .

15 August 2018

Publication: Brain

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, et al.

13 August 2018

Publication: Molecular Psychiatry

Lombardo MV, Auyeung B, Pramparo T, Quartier A, Courraud J, Holt RJ, et al.

13 August 2018

Publication: Nature Genetics

Geoff Macintyre, Teodora E. Goranova, Dilrini De Silva, Darren Ennis, Anna M. Piskorz, Matthew Eldridge, Daoud Sie, Liz-Anne Lewsley, Aishah Hanif, Cheryl Wilson, Suzanne Dowson, Rosalind M. Glasspool, Michelle Lockley, Elly Brockbank, Ana Montes, Axel Walther, Sudha Sundar, Richard Edmondson, Geoff D. Hall, Andrew Clamp, Charlie Gourley, Marcia Hall, Christina Fotopoulou, Hani Gabra, James Paul, Anna Supernat, David Millan, Aoisha Hoyle, Gareth Bryson, Craig Nourse, Laura Mincarelli, Luis Navarro Sanchez, Bauke Ylstra, Mercedes Jimenez-Linan, Luiza Moore, Oliver Hofmann, Florian Markowetz, Iain A. McNeish and James D. Brenton

13 August 2018

Summary:

Researchers have found distinct patterns of DNA rearrangement that are linked to patient outcomes.

In this study of ovarian cancer samples from over 500 women, the research team harnessed big data processing techniques to look for broad patterns in the genetic readouts from ovarian cancer cells.

Rather than focusing on the detail of each individual mistake in the DNA, they designed powerful computer algorithms to scan the genetic data, finding seven distinct patterns.

They showed that each pattern, or “signature”, represented a different mechanism of DNA mutation. Taken together, these signatures were able to make sense of the chaos seen in ovarian cancer genomes. Read the full story here

Publication: Scientific Reports

Wang J, Ferreira R, Lu W, Farrow S, Downes K, Jermutus L, et al.

13 August 2018

Publication: Brain

Zanier ER, Bertani I, Sammali E, Pischiutta F, Chiaravalloti MA, Vegliante G, et al.

1 August 2018

Publication: Molecular Autism

Cassidy S, Bradley L, Shaw R, Baron-Cohen S.

31 July 2018

Publication: J Clin Endocrinol Metab.

David Church, Luís Cardoso, Richard G Kay, Claire L Williams, Bernard Freudenthal, Catriona Clarke, Julie Harris, Myuri Moorthy, Efthmia Karra, Fiona M Gribble, Frank Reimann, Keith Burling, Alistair J K Williams, Alia Munir, T Hugh Jones, Dagmar Führer, Lars C Moeller, Mark Cohen, Bernard Khoo, David Halsall, Robert K Semple

31 July 2018

Insulin and c-peptide levels are routinely measured to monitor glucose-competence in patients, however, ocassionally the standard assays give readings well ouside the normal range. Very high readings could indicate an insulin producing tumor or exogenous insulin overdosing or in rare patients can be a result of insulin-auto antibodies.

LC-MS/MS can be a highly selective method to detect insulin and distinguishes between natural insulin and insulin drugs, making it valuable add-on to “standard” immunoassays when these give unexpected readings. It can also measure multiple analytes in a single extraction, reducing the volume of blood needed for analysis.

The superior performance of LC-MS/MS in analysing blood from insulin autoimmune syndrome patients should enable clearer diagnosis and the initiation of immunomodulatory therapy.

Publication: Nature Communications

Li X, Francies HE, Secrier M, Perner J, Miremadi A, Galeano-Dalmau N, Barendt WJ, Letchford L, Leyden GM, Goffin EK, Barthorpe A, Lightfoot H, Chen E, Gilbert J, Noorani A, Devonshire G, Bower L, Grantham A, MacRae S, Grehan N, Wedge DC, Fitzgerald RC, Garnett MJ.

30 July 2018

Publication: European Journal of Neurosciences

Greenland JC, Williams-Gray CH, Barker RA.

30 July 2018