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Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. De Ravin SS, et al. Among authors: whiting theobald nl. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20. Blood. 2010. PMID: 20489056 Free PMC article.
Concentrated RD114-pseudotyped MFGS-gp91phox vector achieves high levels of functional correction of the chronic granulomatous disease oxidase defect in NOD/SCID/beta -microglobulin-/- repopulating mobilized human peripheral blood CD34+ cells.
Brenner S, Whiting-Theobald NL, Linton GF, Holmes KL, Anderson-Cohen M, Kelly PF, Vanin EF, Pilon AM, Bodine DM, Horwitz ME, Malech HL. Brenner S, et al. Among authors: whiting theobald nl. Blood. 2003 Oct 15;102(8):2789-97. doi: 10.1182/blood-2002-05-1482. Epub 2003 Jun 26. Blood. 2003. PMID: 12829597 Free article.
WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4.
Kawai T, Choi U, Cardwell L, DeRavin SS, Naumann N, Whiting-Theobald NL, Linton GF, Moon J, Murphy PM, Malech HL. Kawai T, et al. Among authors: whiting theobald nl. Blood. 2007 Jan 1;109(1):78-84. doi: 10.1182/blood-2006-05-025296. Epub 2006 Aug 31. Blood. 2007. PMID: 16946301 Free PMC article.
20 results