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A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
Khourieh, J.; Rao, G.; Habib, T.; Avery, D. T.; Lefevre-Utile, A.; Chandesris, M. O.; Belkadi, A.; Chrabieh, M.; Alwaseem, H.; Grandin, V.; Sarrot-Reynauld, F.; Senechal, A.; Lortholary, O.; Kong, X. F.; Boisson-Dupuis, S.; Picard, C.; Puel, A.; Beziat, V.; Zhang, Q.; Abel, L.; Molina, H.; Marr, N.; Tangye, S. G.; Casanova, J. L.; Boisson, B.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 116 (33) :16463-16472, 2019 10.1073/pnas.1901409116
OpenAccess publication CAF hierarchy driven by pancreatic cancer cell p53-status creates a pro-metastatic and chemoresistant environment via perlecan
Vennin, C.; Melenec, P.; Rouet, R.; Nobis, M.; Cazet, A. S.; Murphy, K. J.; Herrmann, D.; Reed, D. A.; Lucas, M. C.; Warren, S. C.; Elgundi, Z.; Pinese, M.; Kalna, G.; Roden, D.; Samuel, M.; Zaratzian, A.; Grey, S. T.; Da Silva, A.; Leung, W.; Mathivanan, S.; Wang, Y.; Braithwaite, A. W.; Christ, D.; Benda, A.; Parkin, A.; Phillips, P. A.; Whitelock, J. M.; Gill, A. J.; Sansom, O. J.; Croucher, D. R.; Parker, B. L.; Pajic, M.; Morton, J. P.; Cox, T. R.; Timpson, P.
Nature Communications 10 (1) :3637, 2019 10.1038/s41467-019-10968-6
Pexidartinib versus placebo for advanced tenosynovial giant cell tumour (ENLIVEN): a randomised phase 3 trial
Tap, W. D.; Gelderblom, H.; Palmerini, E.; Desai, J.; Bauer, S.; Blay, J. Y.; Alcindor, T.; Ganjoo, K.; Martin-Broto, J.; Ryan, C. W.; Thomas, D. M.; Peterfy, C.; Healey, J. H.; van de Sande, M.; Gelhorn, H. L.; Shuster, D. E.; Wang, Q.; Yver, A.; Hsu, H. H.; Lin, P. S.; Tong-Starksen, S.; Stacchiotti, S.; Wagner, A. J.
LANCET 394 (10197) :478-487, 2019 10.1016/s0140-6736(19)30764-0
Morphogenesis of extra-embryonic tissues directs the remodelling of the mouse embryo at implantation
Christodoulou, N.; Weberling, A.; Strathdee, D.; Anderson, K. I.; Timpson, P.; Zernicka-Goetz, M.
Nature Communications 10 (1) :3557, 2019 10.1038/s41467-019-11482-5
Outcomes of universal germline testing for men with prostate cancer in an Australian tertiary center
Crumbaker, M.; Wong, J.; Joshua, A. M.; Spigelman, A. D.
Asia Pacific Journal of Clinical Oncology 15 (4) :257-261, 2019 10.1111/ajco.13148
OpenAccess publication Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: “Just another straw on the stack”
Rasmussen, Victoria; Forbes Shepherd, Rowan; Forrest, Laura Elenor; James, Paul A.; Young, Mary-Anne
Journal of Genetic Counseling 28 (4) :750-759, 2019 10.1002/jgc4.1110
OpenAccess publication A benchmark dataset for analyzing and visualizing the dynamic epiproteome
Kaur, S.; Baldi, B.; Vuong, J.; O'Donoghue, S. I.
Data in Brief 25 :104000, 2019 10.1016/j.dib.2019.104000
Two-Thirds of All Fractures Are Not Attributable to Osteoporosis and Advancing Age: Implications for Fracture Prevention
Mai, H. T.; Tran, T. S.; Ho-Le, T. P.; Center, J. R.; Eisman, J. A.; Nguyen, T. V.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 104 (8) :3514-3520, 2019 10.1210/jc.2018-02614
Clodronate-Liposome Mediated Macrophage Depletion Abrogates Multiple Myeloma Tumor Establishment In Vivo
Opperman, K. S.; Vandyke, K.; Clark, K. C.; Coulter, E. A.; Hewett, D. R.; Mrozik, K. M.; Schwarz, N.; Evdokiou, A.; Croucher, P. I.; Psaltis, P. J.; Noll, J. E.; Zannettino, A. C.
NEOPLASIA 21 (8) :777-787, 2019 10.1016/j.neo.2019.05.006
The Use and Abuse of Growth Hormone in Sports
Holt, R. I. G.; Ho, K. K. Y.
ENDOCRINE REVIEWS 40 (4) :1163-1185, 2019 10.1210/er.2018-00265
Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer
Tutty, Erin; Petelin, Lara; McKinley, Joanne; Young, Mary-Anne; Meiser, Bettina; Rasmussen, Victoria M.; Forbes Shepherd, Rowan; James, Paul A.; Forrest, Laura E.
EUROPEAN JOURNAL OF HUMAN GENETICS 27 (8) :1186-1196, 2019 10.1038/s41431-019-0390-9
Constraints to counting bioluminescence producing cells by a commonly used transgene promoter and its implications for experimental design
Mosaad, E. O.; Futrega, K.; Seim, I.; Gloss, B.; Chambers, K. F.; Clements, J. A.; Doran, M. R.
Scientific Reports 9 (1) :11334, 2019 10.1038/s41598-019-46916-z
Microglia Regulate Pruning of Specialized Synapses in the Auditory Brainstem
Milinkeviciute, G.; Henningfield, C. M.; Muniak, M. A.; Chokr, S. M.; Green, K. N.; Cramer, K. S.
Frontiers in Neural Circuits 13 (55) :1, 2019 10.3389/fncir.2019.00055
Venomic, Transcriptomic, and Bioactivity Analyses of Pamphobeteus verdolaga Venom Reveal Complex Disulfide-Rich Peptides That Modulate Calcium Channels
Estrada-Gomez, S.; Cardoso, F. C.; Vargas-Munoz, L. J.; Quintana-Castillo, J. C.; Arenas Gomez, C. M.; Pineda, S. S.; Saldarriaga-Cordoba, M. M.
Toxins 11 (9) :496, 2019 10.3390/toxins11090496
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review
Wali, G.; Wali, G. M.; Sue, C. M.; Kumar, K. R.
NEUROPEDIATRICS 50 (4) :248-252, 2019 10.1055/s-0039-1684052
OpenAccess publication Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency
Munoz, M. A.; Jurczyluk, J.; Simon, A.; Hissaria, P.; Arts, R. J. W.; Coman, D.; Boros, C.; Mehr, S.; Rogers, M. J.
Frontiers in Immunology 10 :1900, 2019 10.3389/fimmu.2019.01900