[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
TISSUE=T-cell;
DOI=10.1016/0092-8674(94)90528-2; PubMed=8069912 [NCBI, ExPASy, EBI, Israel, Japan]
Derry J.M.J.,
Ochs H.D.,
Francke U.;
"Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.";
Cell 78:635-644(1994).
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[2]
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ERRATUM.
PubMed=8001129 [NCBI, ExPASy, EBI, Israel, Japan]
Derry J.M.J.,
Ochs H.D.,
Francke U.;
Cell 79:923-923(1994).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS WAS TRP-43; MET-45; LEU-58; LYS-133 AND THR-134.
PubMed=7753869 [NCBI, ExPASy, EBI, Israel, Japan]
Kwan S.-P.,
Hagemann T.L.,
Radtke B.E.,
Blaese R.M.,
Rosen F.S.;
"Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.";
Proc. Natl. Acad. Sci. U.S.A. 92:4706-4710(1995).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/bbrc.1999.0292; PubMed=10066431 [NCBI, ExPASy, EBI, Israel, Japan]
Hagemann T.L.,
Kwan S.-P.;
"The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene.";
Biochem. Biophys. Res. Commun. 256:104-109(1999).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lymph;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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PROTEIN SEQUENCE OF 2-13.
TISSUE=Platelet;
DOI=10.1038/nbt810; PubMed=12665801 [NCBI, ExPASy, EBI, Israel, Japan]
Gevaert K.,
Goethals M.,
Martens L.,
Van Damme J.,
Staes A.,
Thomas G.R.,
Vandekerckhove J.;
"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.";
Nat. Biotechnol. 21:566-569(2003).
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[8]
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INTERACTION WITH CDC42.
DOI=10.1073/pnas.93.11.5615; PubMed=8643625 [NCBI, ExPASy, EBI, Israel, Japan]
Kolluri R.,
Tolias K.F.,
Carpenter C.L.,
Rosen F.S.,
Kirchhausen T.;
"Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.";
Proc. Natl. Acad. Sci. U.S.A. 93:5615-5618(1996).
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[9]
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INTERACTION WITH WIP.
DOI=10.1073/pnas.94.26.14671; PubMed=9405671 [NCBI, ExPASy, EBI, Israel, Japan]
Ramesh N.,
Anton I.M.,
Hartwig J.H.,
Geha R.S.;
"WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells.";
Proc. Natl. Acad. Sci. U.S.A. 94:14671-14676(1997).
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[10]
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PHOSPHORYLATION AT TYR-291.
DOI=10.1074/jbc.M203346200; PubMed=12235133 [NCBI, ExPASy, EBI, Israel, Japan]
Cory G.O.,
Garg R.,
Cramer R.,
Ridley A.J.;
"Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein.";
J. Biol. Chem. 277:45115-45121(2002).
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[11]
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PHOSPHORYLATION AT SER-483 AND SER-484, AND INTERACTION WITH THE ARP2/3 COMPLEX.
DOI=10.1016/S1097-2765(03)00172-2; PubMed=12769847 [NCBI, ExPASy, EBI, Israel, Japan]
Cory G.O.C.,
Cramer R.,
Blanchoin L.,
Ridley A.J.;
"Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP.";
Mol. Cell 11:1229-1239(2003).
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[12]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291, AND MASS SPECTROMETRY.
DOI=10.1038/nbt1046; PubMed=15592455 [NCBI, ExPASy, EBI, Israel, Japan]
Rush J.,
Moritz A.,
Lee K.A.,
Guo A.,
Goss V.L.,
Spek E.J.,
Zhang H.,
Zha X.-M.,
Polakiewicz R.D.,
Comb M.J.;
"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.";
Nat. Biotechnol. 23:94-101(2005).
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[13]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291, AND MASS SPECTROMETRY.
DOI=10.1016/j.cell.2007.11.025; PubMed=18083107 [NCBI, ExPASy, EBI, Israel, Japan]
Rikova K.,
Guo A.,
Zeng Q.,
Possemato A.,
Yu J.,
Haack H.,
Nardone J.,
Lee K.,
Reeves C.,
Li Y.,
Hu Y.,
Tan Z.,
Stokes M.,
Sullivan L.,
Mitchell J.,
Wetzel R.,
Macneill J.,
Ren J.M.,
Yuan J., ![]()
Bakalarski C.E.,
Villen J.,
Kornhauser J.M.,
Smith B.,
Li D.,
Zhou X.,
Gygi S.P.,
Gu T.-L.,
Polakiewicz R.D.,
Rush J.,
Comb M.J.;
"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.";
Cell 131:1190-1203(2007).
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[14]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291; SER-483 AND SER-484, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1021/pr0704130; PubMed=18088087 [NCBI, ExPASy, EBI, Israel, Japan]
Zahedi R.P.,
Lewandrowski U.,
Wiesner J.,
Wortelkamp S.,
Moebius J.,
Schuetz C.,
Walter U.,
Gambaryan S.,
Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
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[15]
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STRUCTURE BY NMR OF 230-288 IN COMPLEX WITH CDC42.
DOI=10.1038/20726; PubMed=10360578 [NCBI, ExPASy, EBI, Israel, Japan]
Abdul-Manan N.,
Aghazadeh B.,
Liu G.A.,
Majumdar A.,
Ouerfelli O.,
Siminovitch K.A.,
Rosen M.K.;
"Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein.";
Nature 399:379-383(1999).
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[16]
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STRUCTURE BY NMR OF 242-492, AND CONFORMATION CHANGE.
DOI=10.1038/35004513; PubMed=10724160 [NCBI, ExPASy, EBI, Israel, Japan]
Kim A.S.,
Kakalis L.T.,
Abdul-Manan N.,
Liu G.A.,
Rosen M.K.;
"Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.";
Nature 404:151-158(2000).
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[17]
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STRUCTURE BY NMR OF 242-310 IN COMPLEX WITH WISKOSTATIN.
DOI=10.1038/nsmb796; PubMed=15235593 [NCBI, ExPASy, EBI, Israel, Japan]
Peterson J.R.,
Bickford L.C.,
Morgan D.,
Kim A.S.,
Ouerfelli O.,
Kirschner M.W.,
Rosen M.K.;
"Chemical inhibition of N-WASP by stabilization of a native autoinhibited conformation.";
Nat. Struct. Mol. Biol. 11:747-755(2004).
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[18]
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VARIANTS WAS HIS-30 DEL; LYS-31; MET-75; PRO-82; CYS-86; HIS-86; CYS-97; LYS-133 AND GLU-476.
DOI=10.1093/hmg/4.7.1119; PubMed=8528198 [NCBI, ExPASy, EBI, Israel, Japan]
Kolluri R.,
Shehabeldin A.,
Peacocke M.,
Lamhonwah A.-M.,
Teichert-Kuliszewska K.,
Weissman S.M.,
Siminovitch K.A.;
"Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.";
Hum. Mol. Genet. 4:1119-1126(1995).
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[19]
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VARIANTS XLT PHE-27; ILE-48 AND LYS-477, AND VARIANTS WAS MET-75; LEU-86; HIS-86; LYS-131 AND CYS-187.
DOI=10.1093/hmg/4.7.1127; PubMed=8528199 [NCBI, ExPASy, EBI, Israel, Japan]
Derry J.M.J.,
Kerns J.A.,
Weinberg K.I.,
Ochs H.D.,
Volpini V.,
Estivill X.,
Walker A.P.,
Francke U.;
"WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.";
Hum. Mol. Genet. 4:1127-1135(1995).
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[20]
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VARIANTS XLT VAL-56 AND GLU-236.
DOI=10.1038/ng0495-414; PubMed=7795648 [NCBI, ExPASy, EBI, Israel, Japan]
Villa A.,
Notarangelo L.,
Macchi P.,
Mantuano E.,
Cavagni G.,
Brugnoni D.,
Strina D.,
Patrosso M.C.,
Ramenghi U.,
Sacco M.G.,
Ugazio A.,
Vezzoni P.;
"X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.";
Nat. Genet. 9:414-417(1995).
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[21]
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VARIANT WAS HIS-86.
DOI=10.1007/s004390050162; PubMed=8682510 [NCBI, ExPASy, EBI, Israel, Japan]
Schindelhauer D.,
Weiss M.,
Hellebrand H.,
Golla A.,
Hergersberg M.,
Seger R.,
Belohradsky B.H.,
Meindl A.;
"Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.";
Hum. Genet. 98:68-76(1996).
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[22]
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VARIANTS WAS TRP-43; MET-45; MET-75 AND CYS-86.
PubMed=9126958 [NCBI, ExPASy, EBI, Israel, Japan]
Remold-O'Donnell E.,
Cooley J.,
Shcherbina A.,
Hagemann T.L.,
Kwan S.-P.,
Kenney D.M.,
Rosen F.S.;
"Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.";
J. Immunol. 158:4021-4025(1997).
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[23]
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VARIANTS WAS LYS-31 AND MET-45.
DOI=10.1203/00006450-199704000-00013; PubMed=9098856 [NCBI, ExPASy, EBI, Israel, Japan]
Ariga T.,
Yamada M.,
Sakiyama Y.;
"Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.";
Pediatr. Res. 41:535-540(1997).
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[24]
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VARIANTS WAS MET-75; LEU-84; ASP-89 AND LYS-133.
DOI=10.1006/clin.1998.4557; PubMed=9683546 [NCBI, ExPASy, EBI, Israel, Japan]
MacCarthy-Morrogh L.,
Gaspar H.B.,
Wang Y.-C.,
Katz F.,
Thompson L.,
Layton M.,
Jones A.M.,
Kinnon C.;
"Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.";
Clin. Immunol. Immunopathol. 88:22-27(1998).
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[25]
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VARIANT WAS VAL-56.
DOI=10.1002/(SICI)1096-9896(199805)185:1<99::AID-PATH48>3.0.CO;2-L; PubMed=9713366 [NCBI, ExPASy, EBI, Israel, Japan]
Facchetti F.,
Blanzuoli L.,
Vermi W.,
Notarangelo L.D.,
Giliani S.,
Fiorini M.,
Fasth A.,
Stewart D.M.,
Nelson D.L.;
"Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.";
J. Pathol. 185:99-107(1998).
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[26]
|
VARIANT WAS LYS-133.
DOI=10.1056/NEJM199801293380504; PubMed=9445409 [NCBI, ExPASy, EBI, Israel, Japan]
Parolini O.,
Ressmann G.,
Haas O.A.,
Pawlowsky J.,
Gadner H.,
Knapp W.,
Holter W.;
"X-linked Wiskott-Aldrich syndrome in a girl.";
N. Engl. J. Med. 338:291-295(1998).
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[27]
|
VARIANT XLT MET-45.
DOI=10.1046/j.1365-2141.2001.02465.x; PubMed=11167787 [NCBI, ExPASy, EBI, Israel, Japan]
Ho L.L.,
Ayling J.,
Prosser I.,
Kronenberg H.,
Iland H.,
Joshua D.;
"Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.";
Br. J. Haematol. 112:76-80(2001).
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[28]
|
VARIANT XLN PRO-270, AND CHARACTERIZATION OF VARIANT XLN PRO-270.
DOI=10.1038/85886; PubMed=11242115 [NCBI, ExPASy, EBI, Israel, Japan]
Devriendt K.,
Kim A.S.,
Mathijs G.,
Frints S.G.M.,
Schwartz M.,
Van Den Oord J.J.,
Verhoef G.E.G.,
Boogaerts M.A.,
Fryns J.-P.,
You D.,
Rosen M.K.,
Vandenberghe P.;
"Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.";
Nat. Genet. 27:313-317(2001).
|
[29]
|
VARIANTS WAS ARG-73; CYS-86 AND LYS-133, AND VARIANTS XLT MET-75 AND CYS-83.
DOI=10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.3.CO;2-5; PubMed=10447259 [NCBI, ExPASy, EBI, Israel, Japan]
Lemahieu V.,
Gastier J.M.,
Francke U.;
"Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.";
Hum. Mutat. 14:54-66(1999).
|
[30]
|
VARIANTS XLT ARG-58 AND ASN-481.
DOI=10.1182/blood.V99.6.2268; PubMed=11877312 [NCBI, ExPASy, EBI, Israel, Japan]
Notarangelo L.D.,
Mazza C.,
Giliani S.,
D'Aria C.,
Gandellini F.,
Ravelli C.,
Locatelli M.G.,
Nelson D.L.,
Ochs H.D.,
Notarangelo L.D.;
"Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.";
Blood 99:2268-2269(2002).
|
[31]
|
VARIANTS WAS HIS-52 AND TRP-70.
DOI=10.1002/humu.9013; PubMed=11793485 [NCBI, ExPASy, EBI, Israel, Japan]
El-Hakeh J.,
Rosenzweig S.,
Oleastro M.,
Basack N.,
Berozdnik L.,
Molina F.,
Rivas E.M.,
Zelazko M.,
Danielian S.;
"Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.";
Hum. Mutat. 19:186-187(2002).
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