{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T02:13:59Z","timestamp":1715998439034},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2003,2,1]],"date-time":"2003-02-01T00:00:00Z","timestamp":1044057600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Hematol"],"published-print":{"date-parts":[[2003,2]]},"DOI":"10.1007\/bf02983238","type":"journal-article","created":{"date-parts":[[2008,11,5]],"date-time":"2008-11-05T16:57:26Z","timestamp":1225904246000},"page":"40-44","source":"Crossref","is-referenced-by-count":8,"title":["Mutational analysis of theWASP gene in 2 Korean families with Wiskott-Aldrich syndrome"],"prefix":"10.1007","volume":"78","author":[{"given":"Eun-Kyeong","family":"Jo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Futatani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeo","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young-Ho","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-A","family":"Jung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Hwa","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong-Kyu","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeaki","family":"Nonoyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Miyawaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02983238_CR1","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/0092-8674(94)90528-2","volume":"78","author":"JM Derry","year":"1994","unstructured":"Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.Cell. 1994;78:635\u2013644.","journal-title":"Cell."},{"key":"BF02983238_CR2","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1542\/peds.13.2.133","volume":"13","author":"RA Aldrich","year":"1954","unstructured":"Aldrich RA, Steinburg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.Pediatrics. 1954;13: 133\u2013138.","journal-title":"Pediatrics."},{"key":"BF02983238_CR3","doi-asserted-by":"crossref","first-page":"2621","DOI":"10.1182\/blood.V87.7.2621.bloodjournal8772621","volume":"87","author":"E Remold-O\u2019Donnell","year":"1996","unstructured":"Remold-O\u2019Donnell E, Rosen FS, Kenney DM. Defects in Wiskott- Aldrich syndrome blood cells.Blood. 1996;87:2621\u20132631.","journal-title":"Blood."},{"key":"BF02983238_CR4","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1126\/science.275.5296.27","volume":"275","author":"C Featherstone","year":"1997","unstructured":"Featherstone C. The many faces of WAS protein.Science. 1997; 275:27\u201328.","journal-title":"Science."},{"key":"BF02983238_CR5","doi-asserted-by":"crossref","first-page":"5615","DOI":"10.1073\/pnas.93.11.5615","volume":"93","author":"R Kolluri","year":"1996","unstructured":"Kolluri R, Tolias KF, Carpenter CL, Rosen FS, Kirchhausen T. Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.Proc Natl Acad Sci U S A. 1996;93:5615\u20135618.","journal-title":"Proc Natl Acad Sci U S A."},{"key":"BF02983238_CR6","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1146\/annurev.immunol.17.1.905","volume":"17","author":"SB Snapper","year":"1999","unstructured":"Snapper SB, Rosen FS. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization.Annu Rev Immunol. 1999;17:905\u2013929.","journal-title":"Annu Rev Immunol."},{"key":"BF02983238_CR7","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s004390050285","volume":"98","author":"WL Greer","year":"1996","unstructured":"Greer WL, Shehabeldin A, Schulman J, Junker A, Siminovitch KA. Identification of WASP mutations, mutation hotspots and genotype- phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.Hum Genet. 1996;98:685\u2013690.","journal-title":"Hum Genet."},{"key":"BF02983238_CR8","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1093\/hmg\/4.10.1995","volume":"4","author":"SP Kwan","year":"1995","unstructured":"Kwan SP, Hagemann TL, Blaese RM, Knutsen A, Rosen FS. Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.Hum Mol Genet. 1995;4:1995\u20131998.","journal-title":"Hum Mol Genet."},{"key":"BF02983238_CR9","doi-asserted-by":"crossref","first-page":"3648","DOI":"10.1182\/blood.V86.10.3648.bloodjournal86103648","volume":"86","author":"GS Wengler","year":"1995","unstructured":"Wengler GS, Notarangelo LD, Berardelli S, et al. High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.Blood. 1995;86: 3648\u20133654.","journal-title":"Blood."},{"key":"BF02983238_CR10","doi-asserted-by":"crossref","first-page":"3797","DOI":"10.1182\/blood.V86.10.3797.bloodjournal86103797","volume":"86","author":"Q Zhu","year":"1995","unstructured":"Zhu Q, Zhang M, Blaese RM, et al. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.Blood. 1995;86:3797\u20133804.","journal-title":"Blood."},{"key":"BF02983238_CR11","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood.V90.7.2680","volume":"90","author":"Q Zhu","year":"1997","unstructured":"Zhu Q, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome\/ X-linked thrombocytopenia:WASP gene mutations, protein expression, and phenotype.Blood. 1997;90:2680\u20132689.","journal-title":"Blood."},{"key":"BF02983238_CR12","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1182\/blood.V95.3.1110","volume":"95","author":"H Kanegane","year":"2000","unstructured":"Kanegane H, Nomura K, Miyawaki T, et al. X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes.Blood. 2000;95: 1110\u20131111.","journal-title":"Blood."},{"key":"BF02983238_CR13","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s004310050005","volume":"159","author":"Y Sasahara","year":"2000","unstructured":"Sasahara Y, Kawai S, Kumaki S, Ohashi Y, Minegishi M, Tsuchiya S. Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome.Eur J Pediatr. 2000;159: 23\u201330.","journal-title":"Eur J Pediatr."},{"key":"BF02983238_CR14","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s004390050909","volume":"104","author":"T Kubota","year":"1999","unstructured":"Kubota T, Nonoyama S, Tonoki H, et al. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.Hum Genet. 1999;104:49\u201355.","journal-title":"Hum Genet."},{"key":"BF02983238_CR15","doi-asserted-by":"crossref","first-page":"4021","DOI":"10.4049\/jimmunol.158.9.4021","volume":"158","author":"E Remold-O\u2019Donnell","year":"1997","unstructured":"Remold-O\u2019Donnell E, Cooley J, Shcherbina A, et al. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.J Immunol. 1997;158:4021\u20134025.","journal-title":"J Immunol."},{"key":"BF02983238_CR16","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1046\/j.1365-2141.1999.01248.x","volume":"104","author":"T Ariga","year":"1999","unstructured":"Ariga T, Yamada M, Wada T, Saitoh S, Sakiyama Y. Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome.Br J Haematol. 1999; 104:893\u2013900.","journal-title":"Br J Haematol."},{"key":"BF02983238_CR17","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s004390050162","volume":"98","author":"D Schindelhauer","year":"1996","unstructured":"Schindelhauer D, Weiss M, Hellebrand H, et al. 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. 1996;98:68\u201376.","journal-title":"Hum Genet."},{"key":"BF02983238_CR18","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1006\/bcmd.1999.0247","volume":"25","author":"LJ Thompson","year":"1999","unstructured":"Thompson LJ, Lalloz MR, Layton DM. Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Blood Cells Mol Dis. 1999;25:218\u2013226.","journal-title":"Blood Cells Mol Dis."},{"key":"BF02983238_CR19","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0022-1759(01)00549-X","volume":"260","author":"S Kawai","year":"2002","unstructured":"Kawai S, Minegishi M, Ohashi Y, et al. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations.J Immunol Methods. 2002;260:195\u2013205.","journal-title":"J Immunol Methods."},{"key":"BF02983238_CR20","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1182\/blood.V93.2.756","volume":"93","author":"M Yamada","year":"1999","unstructured":"Yamada M, Ohtsu M, Kobayashi I, et al. Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.Blood. 1999;93: 756\u2013759.","journal-title":"Blood."},{"key":"BF02983238_CR21","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1182\/blood-2002-01-0211","volume":"100","author":"K Yamaguchi","year":"2002","unstructured":"Yamaguchi K, Ariga T, Yamada M, et al. Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome (WAS) after hematopoietic stem cell transplantation: evaluation by flow cytometric analysis of intracellular WAS protein expression.Blood. 2002;100: 1208\u20131214.","journal-title":"Blood."},{"key":"BF02983238_CR22","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1182\/blood.V85.9.2471.bloodjournal8592471","volume":"85","author":"G Wengler","year":"1995","unstructured":"Wengler G, Gorlin JB,Williamson JM, Rosen FS, Bing DH. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.Blood. 1995; 85:2471\u20132477.","journal-title":"Blood."},{"key":"BF02983238_CR23","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.4049\/jimmunol.165.2.1119","volume":"165","author":"M Yamada","year":"2000","unstructured":"Yamada M, Ariga T, Kawamura N, et al. Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.J Immunol. 2000;165: 1119\u20131122.","journal-title":"J Immunol."}],"container-title":["International Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02983238.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02983238\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02983238","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:56:26Z","timestamp":1684619786000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02983238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,2]]}},"alternative-id":["BF02983238"],"URL":"https:\/\/doi.org\/10.1007\/bf02983238","relation":{},"ISSN":["0925-5710","1865-3774"],"issn-type":[{"value":"0925-5710","type":"print"},{"value":"1865-3774","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2]]}}}