Publications

6429 items matching your search terms.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Steel, D.; Zech, M.; Zhao, C.; Barwick, K. E. S.; Burke, D.; Demailly, D.; Kumar, K. R.; Zorzi, G.; Nardocci, N.; Kaiyrzhanov, R.; Wagner, M.; Iuso, A.; Berutti, R.; Skorvanek, M.; Necpal, J.; Davis, R.; Wiethoff, S.; Mankad, K.; Sudhakar, S.; Ferrini, A.; Sharma, S.; Kamsteeg, E. J.; Tijssen, M. A.; Verschuuren, C.; van Egmond, M. E.; Flowers, J. M.; McEntagart, M.; Tucci, A.; Coubes, P.; Bustos, B. I.; Gonzalez-Latapi, P.; Tisch, S.; Darveniza, P.; Gorman, K. M.; Peall, K. J.; Botzel, K.; Koch, J. C.; Kmiec, T.; Plecko, B.; Boesch, S.; Haslinger, B.; Jech, R.; Garavaglia, B.; Wood, N.; Houlden, H.; Gissen, P.; Lubbe, S. J.; Sue, C. M.; Cif, L.; Mencacci, N. E.; Anderson, G.; Kurian, M. A.; Winkelmann, J.; Genomics England Research, Consortium

ANNALS OF NEUROLOGY 88 (5) :867-877, 2020 10.1002/ana.25879

Regulation of auditory plasticity during critical periods and following hearing loss

Persic, D.; Thomas, M. E.; Pelekanos, V.; Ryugo, D. K.; Takesian, A. E.; Krumbholz, K.; Pyott, S. J.

HEARING RESEARCH 397 :107976, 2020 10.1016/j.heares.2020.107976

A Randomized Trial on the Effect of Phosphate Reduction on Vascular End Points in CKD (IMPROVE-CKD)

Toussaint, N. D.; Pedagogos, E.; Lioufas, N. M.; Elder, G. J.; Pascoe, E. M.; Badve, S. V.; Valks, A.; Block, G. A.; Boudville, N.; Cameron, J. D.; Campbell, K. L.; Chen, S. S. M.; Faull, R. J.; Holt, S. G.; Jackson, D.; Jardine, M. J.; Johnson, D. W.; Kerr, P. G.; Lau, K. K.; Hooi, L. S.; Narayan, O.; Perkovic, V.; Polkinghorne, K. R.; Pollock, C. A.; Reidlinger, D.; Robison, L.; Smith, E. R.; Walker, R. J.; Wang, A. Y. M.; Hawley, C. M.; Investigators, Improve-Ckd Trial

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 31 (11) :2653-2666, 2020 10.1681/ASN.2020040411

Metaplastic breast cancers frequently express immune checkpoint markers FOXP3 and PD-L1

Kalaw, E.; Lim, M.; Kutasovic, J. R.; Sokolova, A.; Taege, L.; Johnstone, K.; Bennett, J.; Saunus, J. M.; Niland, C.; Ferguson, K.; Gresshoff, I.; Bettington, M.; Pathmanathan, N.; Tse, G. M.; Papadimos, D.; Pathmanathan, R.; Harris, G.; Yamaguchi, R.; Tan, P. H.; Fox, S.; O'Toole, S. A.; Simpson, P. T.; Lakhani, S. R.; McCart Reed, A. E.

British Journal of Cancer 123 (11) :1665-1672, 2020 10.1038/s41416-020-01065-3

Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network

Demetri, G. D.; Antonescu, C. R.; Bjerkehagen, B.; Bovee, Jvmg; Boye, K.; Chacon, M.; Dei Tos, A. P.; Desai, J.; Fletcher, J. A.; Gelderblom, H.; George, S.; Gronchi, A.; Haas, R. L.; Hindi, N.; Hohenberger, P.; Joensuu, H.; Jones, R. L.; Judson, I.; Kang, Y. K.; Kawai, A.; Lazar, A. J.; Le Cesne, A.; Maestro, R.; Maki, R. G.; Martin, J.; Patel, S.; Penault-Llorca, F.; Premanand Raut, C.; Rutkowski, P.; Safwat, A.; Sbaraglia, M.; Schaefer, I. M.; Shen, L.; Serrano, C.; Schoffski, P.; Stacchiotti, S.; Sundby Hall, K.; Tap, W. D.; Thomas, D. M.; Trent, J.; Valverde, C.; van der Graaf, W. T. A.; von Mehren, M.; Wagner, A.; Wardelmann, E.; Naito, Y.; Zalcberg, J.; Blay, J. Y.

Annals Of Oncology 31 (11) :1506-1517, 2020 10.1016/j.annonc.2020.08.2232

Friends and foes: Our evolving understanding of the link between Fbxw7 and p53 in cancer

Caldon, C.E.

NEOPLASIA 22 (11) :659-660, 2020 10.1016/j.neo.2020.07.007

Letter to the Editor: Risk Factors for Cardiovascular Disease (CVD) in Adults with Type 1 Diabetes: Findings from Prospective Real-life T1D Exchange Registry

Snaith, J. R.; Holmes-Walker, D. J.; Greenfield, J. R.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 105 (10) :e3834-e3835, 2020 10.1210/clinem/dgaa383

Energy partitioning between fat and bone mass is controlled via a hypothalamic leptin/NPY relay

Lee, N. J.; Qi, Y.; Enriquez, R. F.; Clarke, I.; Ip, C. K.; Wee, N.; Baldock, P. A.; Herzog, H.

INTERNATIONAL JOURNAL OF OBESITY 44 (10) :2149-2164, 2020 10.1038/s41366-020-0550-6

Short-term inhibition of autophagy benefits pancreatic beta-cells by augmenting ether lipids and peroxisomal function, and by countering depletion of n-3 polyunsaturated fatty acids after fat-feeding

Chu, K. Y.; Mellet, N.; Thai, L. M.; Meikle, P. J.; Biden, T. J.

Molecular Metabolism 40 :101023, 2020 10.1016/j.molmet.2020.101023

A Vagal-NTS Neural Pathway that Stimulates Feeding

Chen, J.; Cheng, M.; Wang, L.; Zhang, L.; Xu, D.; Cao, P.; Wang, F.; Herzog, H.; Song, S.; Zhan, C.

CURRENT BIOLOGY 30 (20) :3986-3998.e5, 2020 10.1016/j.cub.2020.07.084

Achieving energy balance with a high-fat meal does not enhance skeletal muscle adaptation and impairs glycaemic response in a sleep-low training model

Areta, J. L.; Iraki, J.; Owens, D. J.; Joanisse, S.; Philp, A.; Morton, J. P.; Hallen, J.

EXPERIMENTAL PHYSIOLOGY 105 (10) :1778-1791, 2020 10.1113/EP088795

A rare case of cauda equina syndrome from a brown tumour

Scott, T. C.; Elder, G.; Srivastava, V.

JOURNAL OF NEPHROLOGY 33 (5) :1103-1105, 2020 10.1007/s40620-020-00763-8

Molecular patterns in salivary duct carcinoma identify prognostic subgroups

Mueller, Simon A.; Gauthier, Marie-Emilie A.; Blackburn, James; Grady, John P.; Kraitsek, Spiridoula; Hajdu, Elektra; Dettmer, Matthias S.; Dahlstrom, Jane E.; Lee, C. Soon; Luk, Peter P.; Yu, Bing; Giger, Roland; Kummerfeld, Sarah; Clark, Jonathan R.; Gupta, Ruta; Cowley, Mark J.

MODERN PATHOLOGY 33 (10) :1896-1909, 2020 10.1038/s41379-020-0576-2

Itaconate controls the severity of pulmonary fibrosis

Ogger, P. P.; Albers, G. J.; Hewitt, R. J.; O'Sullivan, B. J.; Powell, J. E.; Calamita, E.; Ghai, P.; Walker, S. A.; McErlean, P.; Saunders, P.; Kingston, S.; Molyneaux, P. L.; Halket, J. M.; Gray, R.; Chambers, D. C.; Maher, T. M.; Lloyd, C. M.; Byrne, A. J.

Science Immunology 5 (52) :eabc1884, 2020 10.1126/sciimmunol.abc1884

Ex vivo enrichment of PRAME antigen-specific T cells for adoptive immunotherapy using CD137 activation marker selection

Lee, K. H.; Gowrishankar, K.; Street, J.; McGuire, H. M.; Luciani, F.; Hughes, B.; Singh, M.; Clancy, L. E.; Gottlieb, D. J.; Micklethwaite, K. P.; Blyth, E.

Clinical & Translational Immunology 9 (10) :e1200, 2020 10.1002/cti2.1200

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome

Kumar, K. R.; Cortese, A.; Tomlinson, S. E.; Efthymiou, S.; Ellis, M.; Zhu, D.; Stoll, M.; Dominik, N.; Tisch, S.; Tchan, M.; Wu, K. H. C.; Devery, S.; Spring, P. J.; Hawke, S.; Cremer, P.; Ng, K.; Reilly, M. M.; Nicholson, G. A.; Houlden, H.; Kennerson, M.

BRAIN 143 (10) :e82, 2020 10.1093/brain/awaa244