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Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: rosenzweig sd. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Bruton tyrosine kinase gene mutations in Argentina.
Danielian S, El-Hakeh J, Basílico G, Oleastro M, Rosenzweig S, Feldman G, Berozdnik L, Galicchio M, Gallardo A, Giraudi V, Liberatore D, Rivas EM, Zelazko M. Danielian S, et al. Hum Mutat. 2003 Apr;21(4):451. doi: 10.1002/humu.9131. Hum Mutat. 2003. PMID: 12655572
A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Yancoski J, Rocco C, Bernasconi A, Oleastro M, Bezrodnik L, Vrátnica C, Haerynck F, Rosenzweig SD. Yancoski J, et al. Among authors: rosenzweig sd. Infect Genet Evol. 2009 Jul;9(4):574-80. doi: 10.1016/j.meegid.2009.02.010. Epub 2009 Mar 9. Infect Genet Evol. 2009. PMID: 19460324 Free PMC article.
A novel internalization motif regulates human IFN-γ R1 endocytosis.
Yancoski J, Sadat MA, Aksentijevich N, Bernasconi A, Holland SM, Rosenzweig SD. Yancoski J, et al. Among authors: rosenzweig sd. J Leukoc Biol. 2012 Aug;92(2):301-8. doi: 10.1189/jlb.0212057. Epub 2012 May 17. J Leukoc Biol. 2012. PMID: 22595141 Free PMC article.
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM. Sampaio EP, et al. Among authors: rosenzweig sd. J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28. J Allergy Clin Immunol. 2013. PMID: 23541320 Free PMC article.
196 results