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Items: 1 to 20 of 178

1.

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.

Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P.

Nat Genet. 2001 Mar;27(3):313-7.

PMID:
11242115
2.

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes.

Ochs HD.

Immunol Res. 2009;44(1-3):84-8. doi: 10.1007/s12026-008-8084-3. Review.

PMID:
19082760
3.

Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Itoh S, Nonoyama S, Morio T, Imai K, Okawa H, Ochs HD, Shimadzu M, Yata J.

Int J Hematol. 2000 Jan;71(1):79-83.

PMID:
10729999
4.

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD.

Blood. 1997 Oct 1;90(7):2680-9.

5.

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.

Beel K, Cotter MM, Blatny J, Bond J, Lucas G, Green F, Vanduppen V, Leung DW, Rooney S, Smith OP, Rosen MK, Vandenberghe P.

Br J Haematol. 2009 Jan;144(1):120-6. doi: 10.1111/j.1365-2141.2008.07416.x. Epub 2008 Nov 1.

6.

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Derry JM, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U.

Hum Mol Genet. 1995 Jul;4(7):1127-35.

PMID:
8528199
7.

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.

Imai K, Nonoyama S, Ochs HD.

Curr Opin Allergy Clin Immunol. 2003 Dec;3(6):427-36. Review.

PMID:
14612666
8.
9.

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD, Notarangelo LD.

Blood. 2002 Mar 15;99(6):2268-9.

10.

Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Bourne HC, Weston S, Prasad M, Edkins E, Benson EM.

Pathology. 2004 Jun;36(3):262-4.

PMID:
15203732
11.

Wiskott-Aldrich syndrome.

Notarangelo LD, Miao CH, Ochs HD.

Curr Opin Hematol. 2008 Jan;15(1):30-6. Review.

PMID:
18043243
12.

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Andreu N, Matamoros N, Escudero A, Fillat C.

Int J Mol Med. 2007 May;19(5):777-82.

PMID:
17390083
13.

The Wiskott-Aldrich syndrome: disordered actin dynamics in haematopoietic cells.

Thrasher AJ, Burns S, Lorenzi R, Jones GE.

Immunol Rev. 2000 Dec;178:118-28. Review.

PMID:
11213796
15.

Wiskott-Aldrich syndrome protein and platelets.

Oda A, Ochs HD.

Immunol Rev. 2000 Dec;178:111-7. Review.

PMID:
11213795
16.

Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.

Kim AS, Kakalis LT, Abdul-Manan N, Liu GA, Rosen MK.

Nature. 2000 Mar 9;404(6774):151-8.

PMID:
10724160
17.

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al.

Nat Genet. 1995 Apr;9(4):414-7.

PMID:
7795648
18.

A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome.

Chatchatee P, Srichomthong C, Chewatavorn A, Shotelersuk V.

Int J Mol Med. 2003 Dec;12(6):939-41.

PMID:
14612970
19.

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

Derry JM, Ochs HD, Francke U.

Cell. 1994 Aug 26;78(4):635-44. Erratum in: Cell. 1994 Dec 2;79(5):following 922.

PMID:
8069912
20.

The open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells.

Looi CY, Sasahara Y, Watanabe Y, Satoh M, Hakozaki I, Uchiyama M, Wong WF, Du W, Uchiyama T, Kumaki S, Tsuchiya S, Kure S.

Int Immunol. 2014 Jun;26(6):341-52. doi: 10.1093/intimm/dxt072. Epub 2014 Jan 8.

PMID:
24402308
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