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Everolimus-Induced Remission of Classic Kaposi's Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency
Yap JY, Gloss B, Batten M, Hsu P, Berglund L, Cai F, Dai P, Parker A, Qiu M, Miley W, Roshan R, Marshall V, Whitby D, Wegman E, Garsia R, Wu KHC, Kirk E, Polizzotto M, Deenick EK, SG Tangye, Ma CS, CIRCA, Phan TG
JOURNAL OF CLINICAL IMMUNOLOGY 40 (5) 2020 doi: 10.1007/s10875-020-00804-8
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 2020 10.1210/clinem/dgaa383
Phase IA/IB study of single-agent tislelizumab, an investigational anti-PD-1 antibody, in solid tumors
Desai, J.; Deva, S.; Lee, J. S.; Lin, C. C.; Yen, C. J.; Chao, Y.; Keam, B.; Jameson, M.; Hou, M. M.; Kang, Y. K.; Markman, B.; Lu, C. H.; Rau, K. M.; Lee, K. H.; Horvath, L.; Friedlander, M.; Hill, A.; Sandhu, S.; Barlow, P.; Wu, C. Y.; Zhang, Y.; Liang, L.; Wu, J.; Paton, V.; Millward, M.
Journal for ImmunoTherapy of Cancer 8 (1) 2020 10.1136/jitc-2019-000453
Immunocytochemical Localization of Olfactory-signaling Molecules in Human and Rat Spermatozoa
Makeyeva, Y.; Nicol, C.; Ledger, W. L.; Ryugo, D. K.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY 68 (7) :491-513, 2020 10.1369/0022155420939833
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer
Cipponi, A.; Goode, D. L.; Bedo, J.; McCabe, M. J.; Pajic, M.; Croucher, D. R.; Rajal, A. G.; Junankar, S. R.; Saunders, D. N.; Lobachevsky, P.; Papenfuss, A. T.; Nessem, D.; Nobis, M.; Warren, S. C.; Timpson, P.; Cowley, M.; Vargas, A. C.; Qiu, M. R.; Generali, D. G.; Keerthikumar, S.; Nguyen, U.; Corcoran, N. M.; Long, G. V.; Blay, J. Y.; Thomas, D. M.
SCIENCE 368 (6495) :1127-1131, 2020 10.1126/science.aau8768
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Ma, Alan; Yousoof, Saira; Grigg, John R.; Flaherty, Maree; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Fisk, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Karaconji, Tanya; Elder, James E.; Enriquez, Annabelle; Wilson, Meredith; Amor, David J.; Stutterd, Chloe A.; Kamien, Benjamin; Nelson, John; Dinger, Marcel E.; Bennetts, Bruce; Jamieson, Robyn V.
GENETICS IN MEDICINE 2020 10.1038/s41436-020-0854-x
A Dynamic Splicing Program Ensures Proper Synaptic Connections in the Developing Cerebellum
Farini, D.; Cesari, E.; Weatheritt, R. J.; La Sala, G.; Naro, C.; Pagliarini, V.; Bonvissuto, D.; Medici, V.; Guerra, M.; Di Pietro, C.; Rizzo, F. R.; Musella, A.; Carola, V.; Centonze, D.; Blencowe, B. J.; Marazziti, D.; Sette, C.
Cell Reports 31 (9) :107703, 2020 10.1016/j.celrep.2020.107703
Association of Prediabetes and Type 2 Diabetes With Cognitive Function After Stroke: A STROKOG Collaboration Study
Lo, J. W.; Crawford, J. D.; Samaras, K.; Desmond, D. W.; Kohler, S.; Staals, J.; Verhey, F. R. J.; Bae, H. J.; Lee, K. J.; Kim, B. J.; Bordet, R.; Cordonnier, C.; Dondaine, T.; Mendyk, A. M.; Lee, B. C.; Yu, K. H.; Lim, J. S.; Kandiah, N.; Chander, R. J.; Yatawara, C.; Lipnicki, D. M.; Sachdev, P. S.; Collaboration*, Strokog
STROKE 51 (6) :1640-1646, 2020 10.1161/STROKEAHA.119.028428
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
V Beziat, S Tavernier, YH Chen, CS Ma, M Materna, A Laurence, J Staal, D Aschenbrenner, L Roels, L Worley, K Claes, L Gartner, LA Kohn, M De Bruyne, K Schmitz-Abe, LM Charbonnier, S Keles, J Nammour, M Raj Luxman Maglorius Renkilaraj, Y Seeleuthner, M Migaud, J Rosain, M Jeljeli, B Boisson, E Van Braeckel, JA Rosenfeld, HZ Dai, LC Burrage, DR Murdock, BN Lambrecht, V Avettand-Fenoel, TP Vogel, Undiagnosed Diseases Network, CR Esther Jnr, S Haskaloglu, F Dogu, P Ciznar, D Boutboul, M Ouachee, J Amourette, MN Lebras, C Gauvain, C Tcherakian, A Ikinciogullari, R Beyaert, L Abel, JD Milner, B Grimbacher, LJ Couderc, MJ Butte, AF Freeman, E Catherinot, C Fieschi, T Chatila, SG Tangye, HH Uhlig, F Haerynck, JL Casanova, A Puel
JOURNAL OF EXPERIMENTAL MEDICINE 217 (6) :e20191804, 2020 doi: 10.1084/jem.20191804.
Assessment of Periprostatic and Subcutaneous Adipose Tissue Lipolysis and Adipocyte Size from Men with Localized Prostate Cancer
Miladinovic, D.; Cusick, T.; Mahon, K. L.; Haynes, A. M.; Cortie, C. H.; Meyer, B. J.; Stricker, P. D.; Wittert, G. A.; Butler, L. M.; Horvath, L. G.; Hoy, A. J.
Cancers 12 (6) 2020 10.3390/cancers12061385
Comparing the predictive ability of the Edmonton Obesity Staging System with the body mass index for use of health services and pharmacotherapies in Australian adults: A nationally representative cross-sectional study
Atlantis, E.; Fahey, P.; Williams, K.; Edwards, S.; Samaras, K.; Dugdale, P.; Shi, Z.; Sharma, A. M.
Clin Obes :e12368, 2020 10.1111/cob.12368
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis
Crumbaker, M.; Chan, E. K. F.; Gong, T.; Corcoran, N.; Jaratlerdsiri, W.; Lyons, R. J.; Haynes, A. M.; Kulidjian, A. A.; Kalsbeek, A. M. F.; Petersen, D. C.; Stricker, P. D.; Jamieson, C. A. M.; Croucher, P. I.; Hovens, C. M.; Joshua, A. M.; Hayes, V. M.
Cancers 12 (5) :1178, 2020 10.3390/cancers12051178
Epidemics will always come (and go): The need to prepare for the next one, research on COVID-19, and the role of molecular and cellular endocrinology
Stratakis, C. A.; Laybutt, D. R.; Laudet, V.; Klinge, C. M.
MOLECULAR AND CELLULAR ENDOCRINOLOGY 511 :110863, 2020 10.1016/j.mce.2020.110863
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation
Bucciol,G., Pillay, B., Casas-Martin, J., Delafontaine, S., Proesmans,M., Lorent, N., Coolen, J., Tousseyn,T., Bossuyt, X., Ma, CS., Schrijvers, R., Tangye,SG., Meyts, I., Moens,L.
JOURNAL OF CLINICAL IMMUNOLOGY 40 (4) :567-570, 2020 doi: 10.1007/s10875-020-00742-5
Massive adrenal hyperplasia from paraneoplastic adrenocorticotropic hormone
Snaith, J. R.; Gao, B.; Chipps, D.; Girgis, C. M.
BMJ Case Rep 13 (4) 2020 10.1136/bcr-2020-234892