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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. Lee YN, et al. Among authors: massaad mj. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
WIP is critical for T cell responsiveness to IL-2.
Le Bras S, Massaad M, Koduru S, Kumar L, Oyoshi MK, Hartwig J, Geha RS. Le Bras S, et al. Proc Natl Acad Sci U S A. 2009 May 5;106(18):7519-24. doi: 10.1073/pnas.0806410106. Epub 2009 Apr 9. Proc Natl Acad Sci U S A. 2009. PMID: 19359486 Free PMC article.
Cdc42 interacting protein 4 (CIP4) is essential for integrin-dependent T-cell trafficking.
Koduru S, Kumar L, Massaad MJ, Ramesh N, Le Bras S, Ozcan E, Oyoshi MK, Kaku M, Fujiwara Y, Kremer L, King S, Fuhlbrigge R, Rodig S, Sage P, Carman C, Alcaide P, Luscinskas FW, Geha RS. Koduru S, et al. Among authors: massaad mj. Proc Natl Acad Sci U S A. 2010 Sep 14;107(37):16252-6. doi: 10.1073/pnas.1002747107. Epub 2010 Aug 30. Proc Natl Acad Sci U S A. 2010. PMID: 20805498 Free PMC article.
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.
Massaad MJ, Ramesh N, Le Bras S, Giliani S, Notarangelo LD, Al-Herz W, Notarangelo LD, Geha RS. Massaad MJ, et al. J Allergy Clin Immunol. 2011 Apr;127(4):998-1005.e1-2. doi: 10.1016/j.jaci.2011.01.015. Epub 2011 Mar 3. J Allergy Clin Immunol. 2011. PMID: 21376381 Free PMC article.
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S. Lanzi G, et al. Among authors: massaad mj. J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896. Epub 2012 Jan 9. J Exp Med. 2012. PMID: 22231303 Free PMC article.
B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.
Recher M, Burns SO, de la Fuente MA, Volpi S, Dahlberg C, Walter JE, Moffitt K, Mathew D, Honke N, Lang PA, Patrizi L, Falet H, Keszei M, Mizui M, Csizmadia E, Candotti F, Nadeau K, Bouma G, Delmonte OM, Frugoni F, Fomin AB, Buchbinder D, Lundequist EM, Massaad MJ, Tsokos GC, Hartwig J, Manis J, Terhorst C, Geha RS, Snapper S, Lang KS, Malley R, Westerberg L, Thrasher AJ, Notarangelo LD. Recher M, et al. Among authors: massaad mj. Blood. 2012 Mar 22;119(12):2819-28. doi: 10.1182/blood-2011-09-379412. Epub 2012 Feb 1. Blood. 2012. PMID: 22302739 Free PMC article.
73 results