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Items: 1 to 20 of 106


Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants.

Davis BR, Yan Q, Bui JH, Felix K, Moratto D, Muul LM, Prokopishyn NL, Blaese RM, Candotti F.

Clin Immunol. 2010 Apr;135(1):72-83. doi: 10.1016/j.clim.2009.12.011. Epub 2010 Feb 2.


Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.

Davis BR, Dicola MJ, Prokopishyn NL, Rosenberg JB, Moratto D, Muul LM, Candotti F, Michael Blaese R.

Blood. 2008 May 15;111(10):5064-7. doi: 10.1182/blood-2007-06-095299. Epub 2008 Mar 10.


Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.

Trifari S, Scaramuzza S, Catucci M, Ponzoni M, Mollica L, Chiesa R, Cattaneo F, Lafouresse F, Calvez R, Vermi W, Medicina D, Castiello MC, Marangoni F, Bosticardo M, Doglioni C, Caniglia M, Aiuti A, Villa A, Roncarolo MG, Dupré L.

J Allergy Clin Immunol. 2010 Feb;125(2):439-448.e8. doi: 10.1016/j.jaci.2009.11.034.


Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.

Wada T, Konno A, Schurman SH, Garabedian EK, Anderson SM, Kirby M, Nelson DL, Candotti F.

J Clin Invest. 2003 May;111(9):1389-97.


In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome.

Xie JW, Zhang ZY, Wu JF, Liu DW, Liu W, Zhao Y, Jiang LP, Tang XM, Wang M, Zhao XD.

Hum Immunol. 2015 Jun;76(6):406-13. doi: 10.1016/j.humimm.2015.04.001. Epub 2015 Apr 8.


Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome.

Lutskiy MI, Beardsley DS, Rosen FS, Remold-O'Donnell E.

Blood. 2005 Oct 15;106(8):2815-7. Epub 2005 Jun 28.


Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T- and B-cell lineages.

Konno A, Wada T, Schurman SH, Garabedian EK, Kirby M, Anderson SM, Candotti F.

Blood. 2004 Jan 15;103(2):676-8. Epub 2003 Sep 22.


Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.

Boztug K, Germeshausen M, Avedillo Díez I, Gulacsy V, Diestelhorst J, Ballmaier M, Welte K, Maródi L, Chernyshova L, Klein C.

Clin Genet. 2008 Jul;74(1):68-74. doi: 10.1111/j.1399-0004.2008.01019.x. Epub 2008 May 13.


Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.

Wada T, Schurman SH, Jagadeesh GJ, Garabedian EK, Nelson DL, Candotti F.

Blood. 2004 Sep 1;104(5):1270-2. Epub 2004 May 13.


Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient.

Boztug K, Baumann U, Ballmaier M, Webster D, Sandrock I, Jacobs R, Lion T, Preuner S, Germeshausen M, Hansen G, Welte K, Klein C.

Haematologica. 2007 Mar;92(3):e43-5.


A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

Du W, Kumaki S, Uchiyama T, Yachie A, Yeng Looi C, Kawai S, Minegishi M, Ramesh N, Geha RS, Sasahara Y, Tsuchiya S.

Hum Mutat. 2006 Apr;27(4):370-5.


Revertant somatic mosaicism in the Wiskott-Aldrich syndrome.

Davis BR, Candotti F.

Immunol Res. 2009;44(1-3):127-31. doi: 10.1007/s12026-008-8091-4.


Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis.

Humblet-Baron S, Sather B, Anover S, Becker-Herman S, Kasprowicz DJ, Khim S, Nguyen T, Hudkins-Loya K, Alpers CE, Ziegler SF, Ochs H, Torgerson T, Campbell DJ, Rawlings DJ.

J Clin Invest. 2007 Feb;117(2):407-18. Epub 2007 Jan 11.


Wiskott-Aldrich Syndrome causing mutation, Pro373Ser restricts conformational changes essential for WASP activity in T-cells.

Jain N, George B, Thanabalu T.

Biochim Biophys Acta. 2014 Apr;1842(4):623-34. doi: 10.1016/j.bbadis.2014.01.006. Epub 2014 Jan 15.


The genotype of the original Wiskott phenotype.

Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH.

N Engl J Med. 2006 Oct 26;355(17):1790-3.


Studies of the expression of the Wiskott-Aldrich syndrome protein.

Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL.

J Clin Invest. 1996 Jun 1;97(11):2627-34.


Wiskott-Aldrich syndrome in a female.

Lutskiy MI, Sasahara Y, Kenney DM, Rosen FS, Remold-O'Donnell E.

Blood. 2002 Oct 15;100(8):2763-8.


Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome.

Lutskiy MI, Park JY, Remold SK, Remold-O'Donnell E.

PLoS One. 2008;3(10):e3444. doi: 10.1371/journal.pone.0003444. Epub 2008 Oct 20.


A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals.

Andreu N, García-Rodríguez M, Volpini V, Frecha C, Molina IJ, Fontan G, Fillat C.

J Hum Genet. 2006;51(2):92-7. Epub 2005 Dec 22.


Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Lutskiy MI, Rosen FS, Remold-O'Donnell E.

J Immunol. 2005 Jul 15;175(2):1329-36.

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