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Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype
Klinken, E. M.; Gray, P. E.; Pillay, B.; Worley, L.; Edwards, E. S. J.; Payne, K.; Bennetts, B.; Hung, D.; Wood, B. A.; Chan, J. J.; Marshall, G. M.; Mitchell, R.; Uzel, G.; Ma, C. S.; Tangye, S. G.; McLean-Tooke, A.
JOURNAL OF CLINICAL IMMUNOLOGY 40 (2) :299-309, 2020 10.1007/s10875-019-00732-2
Myeloid-Derived Suppressor Cells as a Therapeutic Target for Cancer
Law, A. M. K.; Valdes-Mora, F.; Gallego-Ortega, D.
Cells 9 (3) :561, 2020 10.3390/cells9030561
Pretreatment with Pamidronate Decreases Bone Formation but Increases Callus Bone Volume in a Rat Closed Fracture Model
Morse, A.; McDonald, M. M.; Mikulec, K.; Schindeler, A.; Munns, C. F.; Little, D. G.
CALCIFIED TISSUE INTERNATIONAL 106 (2) :172-179, 2020 10.1007/s00223-019-00615-z
Increased anabolic bone response in Dkk1 KO mice following tibial compressive loading
Morse, A.; Ko, F.; McDonald, M. M.; Lee, L.; Schindeler, A.; van der Meulen, M. C. H.; Little, D. G.
BONE 131 :115054, 2020 10.1016/j.bone.2019.115054
OpenAccess publication Cell Lineage Tracing Identifies Hormone-Regulated and Wnt-Responsive Vaginal Epithelial Stem Cells
Ali, A.; Syed, S. M.; Jamaluddin, M. F. B.; Colino-Sanguino, Y.; Gallego-Ortega, D.; Tanwar, P. S.
Cell Reports 30 (5) :1463-1477 e7, 2020 10.1016/j.celrep.2020.01.003
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amali; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Guillen Sacoto, Maria J.; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J.
HUMAN MUTATION 41 (2) :449-464, 2020 10.1002/humu.23936
Integrated pathways that control stress and energy homeostasis
Herzog, H.
Nature Reviews Endocrinology 16 (2) :75-76, 2020 10.1038/s41574-019-0298-z
Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.
Tangye, S.G.; Latour, S.
BLOOD 135 (9) :644-655, 2020 https://doi.org/10.1182/blood.2019000928
Exploring and analysing single cell multi-omics data with VDJView
Samir, J.; Rizzetto, S.; Gupta, M.; Luciani, F.
BMC Medical Genomics 13 (1) :29, 2020 10.1186/s12920-020-0696-z
OpenAccess publication Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field
Yanes, T.; Young, M. A.; Meiser, B.; James, P.
BREAST CANCER RESEARCH 22 (1) :21, 2020 10.1186/s13058-020-01260-3
OpenAccess publication Systematic functional identification of cancer multi-drug resistance genes
Lau MT., Ghazanfar S., Parkin A., Chou A., Rouaen JR., Littleboy JB., Nessem D., Khuong TM., Nevoltris D., Schofield P., Langley D., Christ D., Yang J., Pajic M., Neely GG.
GENOME BIOLOGY 21 (1) :27, 2020 https://doi.org/10.1186/s13059-020-1940-8
Aortic Calcification and Arterial Stiffness Burden in a Chronic Kidney Disease Cohort with High Cardiovascular Risk: Baseline Characteristics of the Impact of Phosphate Reduction On Vascular End-Points in Chronic Kidney Disease Trial
Lioufas, N. M.; Pedagogos, E.; Hawley, C. M.; Pascoe, E. M.; Elder, G. J.; Badve, S. V.; Valks, A.; Toussaint, N. D.; on behalf of the, Improve- C. K. D. Investigators
AMERICAN JOURNAL OF NEPHROLOGY 51 (3) :201-215, 2020 10.1159/000505717
Lymphoma Driver Mutations in the Pathogenic Evolution of an Iconic Human Autoantibody
Singh, M.; Jackson, K. J. L.; Wang, J. J.; Schofield, P.; Field, M. A.; Koppstein, D.; Peters, T. J.; Burnett, D. L.; Rizzetto, S.; Nevoltris, D.; Masle-Farquhar, E.; Faulks, M. L.; Russell, A.; Gokal, D.; Hanioka, A.; Horikawa, K.; Colella, A. D.; Chataway, T. K.; Blackburn, J.; Mercer, T. R.; Langley, D. B.; Goodall, D. M.; Jefferis, R.; Gangadharan Komala, M.; Kelleher, A. D.; Suan, D.; Rischmueller, M.; Christ, D.; Brink, R.; Luciani, F.; Gordon, T. P.; Goodnow, C. C.; Reed, J. H.
CELL 180 (5) :878-894 e19, 2020 10.1016/j.cell.2020.01.029
OpenAccess publication Fluids and their mechanics in tumour transit: shaping metastasis
Follain, G.; Herrmann, D.; Harlepp, S.; Hyenne, V.; Osmani, N.; Warren, S. C.; Timpson, P.; Goetz, J. G.
NATURE REVIEWS CANCER 20 (2) :107-124, 2020 10.1038/s41568-019-0221-x
Should the cardio-protective properties of sodium-glucose cotransporter 2 inhibitors dictate therapeutic decision-making in patients with type 2 diabetes
Milder, T. Y.; Day, R. O.; Stocker, S. L.; Greenfield, J. R.
INTERNAL MEDICINE JOURNAL 50 (5) :645-646, 2020 10.1111/imj.14819
OpenAccess publication Activated PI3Kdelta breaches multiple B cell tolerance checkpoints and causes autoantibody production
Lau, A.; Avery, D. T.; Jackson, K.; Lenthall, H.; Volpi, S.; Brigden, H.; Russell, A. J.; Bier, J.; Reed, J. H.; Smart, J. M.; Cole, T.; Choo, S.; Gray, P. E.; Berglund, L. J.; Hsu, P.; Wong, M.; O'Sullivan, M.; Boztug, K.; Meyts, I.; Uzel, G.; Notarangelo, L. D.; Brink, R.; Goodnow, C. C.; Tangye, S. G.; Deenick, E. K.
JOURNAL OF EXPERIMENTAL MEDICINE 217 (2) :e20191336, 2020 10.1084/jem.20191336