| year | author | journal | Pts. | citation |
|---|---|---|---|---|
| 1994 | Derry/Cell | Cell | 3 | Derry JM, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome [published erratum appears in Cell 1994 Dec 2;79(5):following 922]. Cell 78:635-44, 1994 |
| 1995 | Villa | Nature Genetics | 3 | Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al.: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nature Genetics 9:414-7, 1995 |
| 1995 | Wengler | Blood | 20 | Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O: High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood 86:3648-54, 1995 |
| 1995 | Wengler/Lancet | Lancet | 1 | Wengler GS, Notarangelo LD, Giliani S, Pirastru MG, Ugazio AG, Parolini O: Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA [letter]. Lancet 346:641-2, 1995 |
| 1995 | Derry/HMG | Human Molecular Genetics | 16 | Derry JM, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Human Molecular Genetics 4:1127-35, 1995 |
| 1995 | Kolluri | Human Molecular Genetics | 19 | Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah AM, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Human Molecular Genetics 4:1119-26, 1995 |
| 1995 | Kwan/HMG | Human Molecular Genetics | 20 | 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. Human Molecular Genetics 4:1995-8, 1995 |
| 1995 | Kwan/PNAS | Proceedings of the National Academy of Sciences of the United States of America | 12 | Kwan SP, Hagemann TL, Radtke BE, Blaese RM, Rosen FS: Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. Proceedings of the National Academy of Sciences of the United States of America 92:4706-10, 1995 |
| 1995 | Zhu | Blood | 14 | Zhu Q, Zhang M, Blaese RM, Derry JM, Junker A, Francke U, Chen SH, Ochs HD: The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86:3797-804, 1995 |
| 1996 | Greer | Human Genetics | 24 | 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. Human Genetics 98:685-90, 1996 |
| 1996 | Schwartz | Thrombosis & Haemostasis | 11 | Schwartz M, Bekassy A, Donner M, Hertel T, Hreidarson S, Kerndrup G, Stormorken H, Stokland T, Tranebjaerg L, Orstavik KH, Skovby F: Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. Thrombosis & Haemostasis 75:546-50, 1996 |
| 1996 | de Saint Basile | Journal of Pediatrics | 2 | de Saint Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A: Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. Journal of Pediatrics 129:56-62, 1996 |
| 1996 | Schindelhauer | Human Genetics | 17 | Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, 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. Human Genetics 98:68-76, 1996 |
| 1996 | Ariga/96BBA | Biochimica et Biophysica Acta | 1 | Ariga T, Yamada M, Pudua FR, Sakiyama Y: Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome. Biochimica et Biophysica Acta 1317:158-60, 1996 |
| 1996 | Rohrer | Journal of Pediatrics | 2 | Rohrer J, Ribeiro RC, Auerbach AD, Mirro B, Conley ME: Wiskott-Aldrich syndrome in a family with Fanconi anemia. Journal of Pediatrics 129:50-5, 1996 |
| 1996 | Stewart | Journal of Clinical Investigation | 2 | Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL: Studies of the expression of the Wiskott-Aldrich syndrome protein [see comments]. Journal of Clinical Investigation 97:2627-34, 1996 |
| 1997 | Ariga/97HumMut | Human Mutation | 1 | Ariga T, Yamada M, Ito S, Iwamura M, Iseki M, Sakiyama Y: Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome. Human Mutation 10:310-6, 1997 |
| 1997 | Ariga/97PedRes | Pediatric Research | 4 | 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. Pediatric Research 41:535-40, 1997 |
| 1997 | Remold-O'Donnel | Journal of Immunology | 4 | Remold ODE, Cooley J, Shcherbina A, Hagemann TL, Kwan SP, Kenney DM, Rosen FS: Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. Journal of Immunology 158:4021-5, 1997 |
| 1997 | Zhu2 | Blood | 26 | Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD: Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 90:2680-9, 1997 |
| 1998 | Facchetti | Journal of Pathology | 4 | Facchetti F, Blanzuoli L, Vermi W, Notarangelo LD, Giliani S, Fiorini M, et al. Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. Journal of Pathology 1998;185(1):99-107. |
| 1998 | Ariga/98Blood | Blood | 1 | Ariga T, Yamada M, Sakiyama Y, Tatsuzawa O. A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes. Blood 1998;92(2):699-701. |
| 1999 | Chan | Human Mutation | 1 | Chan S, Hui Y, Lau Y. An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott-Aldrich Syndrome. Human Mutation. 1999;13:507 |
| 1999 | Giliani | Prenatal Diagnosis | 2 | Giliani S, Fiorini M, Mella P, Candotti F, Schumacher RF, Wengler GS, Lalatta F, Fasth A, Badolato R, Ugazio AG, Albertini A, Notarangelo LD. Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis. Prenatal Diagnosis. 1999;19:36-40 |
| 1999 | Ariga/99BJH | British Journal of Haematology | 4 | 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. British Journal of Haematology 1999;104(4):893-900. |
| 1999 | MacCarthy-Morrogh | Clinical Immunology & Immunopathology | 13 | MacCarthy-Morrogh L, Gaspar HB, Wang YC, Katz F, Thompson L, Layton M, et al. Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients. Clinical Immunology & Immunopathology 1998;88(1):22-7. |
| 1999 | Thompson | Blood Cells, Molecules, & Diseases | 20 | Thompson LJ, Lalloz MR, Layton DM. Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Blood Cells, Molecules, & Diseases 1999;25(3-4):218-26. |
| 1999 | Lemahieu | Human Mutation | 17 | Lemahieu V, Gastier JM, Francke U. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. Human Mutation 1999;14(1):54-66. |
| 1999 | Shcherbina | Journal of Immunology | 15 | Shcherbina A, Rosen FS, Remold-O'Donnell E. WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction. Journal of Immunology 1999;163(11):6314-20. |
| 2000 | Fillat/2000 | Human Mutation | 2 | Fillat C, Espanol T, Oset M, Cavieres M, dal Borgo P, Estivill X, et al. Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E. Human Mutation 2000;15(5):487. |
| 2000 | Rottem | Human Mutation | 1 | Rottem M, Alon-Shalev S, Shneor Y, Hujeirat Y. Wiskott Aldrich syndrome in an Israeli family: identification of a novel G40V mutation. Human Mutation 2000;16(5):448. |
| 2000 | Itoh | International Journal of Hematology | 8 | Itoh S, Nonoyama S, Morio T, Imai K, Okawa H, Ochs HD, et al. Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. International Journal of Hematology 2000;71(1):79-83. |
| 2000 | Kanegane | Blood | 1 | Kanegane H, Nomura K, Miyawaki T, Sasahara Y, Kawai S, Tsuchiya S, Murakami G, Futatani T, Ochs HD. X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. Blood. 2000;95:1110-1111. |
| 2000 | Sasahara | European Journal of Pediatrics | 6 | 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. European Journal of Pediatrics 2000;159(1-2):23-30. |
| 2000 | Brooimans | Human Mutation | 7 | Brooimans RA, van den Berg AJ, Tamminga RY, Revesz T, Wulffraat NM, Zegers BJ. Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome. Human Mutation 2000;15(4):386-7. |
| 2001 | Devriendt | Nature Genetics | 1 | Devriendt K, Kim AS, Mathijs G, Frints SGM, Schwartz M, Van den Oord JJ, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nature Genetics 2001;27(3):313-7. |
| 2001 | Allavena | Eur J Immunol. | 10 | Allavena P, Badolato R, Facchetti F, Vermi W, Paganin C, Luini W, Giliani S, Mazza C, Bolzern U, Chiesa I, Notarangelo L, Mantovani A, Sozzani S. Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression. Eur J Immunol. 2001;31:3413-3421 |
| 2001 | Ariga/JI | J Immunol. | 5 | Ariga T, Kondoh T, Yamaguchi K, Yamada M, Sasaki S, Nelson DL, Ikeda H, Kobayashi K, Moriuchi H, Sakiyama Y. Spontaneous in vivo reversion of an inherited mutation in the Wiskott- Aldrich syndrome. J Immunol. 2001;166:5245-5249. |
| 2001 | Fillat/2001 | American Journal of Medical Genetics | 18 | Fillat C, Espanol T, Oset M, Ferrando M, Estivill X, Volpini V. Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. American Journal of Medical Genetics 2001;100(2):116-21. |
| 2001 | Ho | British Journal of Haematology | 1 | Ho LL, 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. British Journal of Haematology 2001;112(1):76-80. |
| 2001 | Duzova | Pediatr Nephrol. | 1 | Duzova A, Topaloglu R, Sanal O, Kilic S, Mazza C, Besbas N, Bakkaloglu A. Henoch-Schonlein purpura in Wiskott-Aldrich syndrome. Pediatr Nephrol. 2001;16:500-502 |
| 2001 | Qasim | Br J Haematol. | 13 | Qasim W, Gilmour KC, Heath S, Ashton E, Cranston T, Thomas A, Finn A, Davies EG, Thrasher AJ, Kinnon C, Jones A, Gaspar HB. Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Br J Haematol. 2001;113:861-865. |
| 2002 | El-Hakeh | Hum Mutat. | 17 | El-Hakeh J, Rosenzweig S, Oleastro M, Basack N, Berozdnik L, Molina F, Rivas EM, Zelazko M, Danielian S. Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. Hum Mutat. 2002;19:186-187 |
| 2002 | Chan/2002 | Hum Mutat. | 6 | Chan KW, Lee TL, Chung BH, Yang X, Lau YL. Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome. Hum Mutat. 2002;20:151-152 |
| 2002 | Dupre | Immunity | 3 | Dupre L, Aiuti A, Trifari S, Martino S, Saracco P, Bordignon C, Roncarolo MG. Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation. Immunity. 2002;17:157-166 |
| 2002 | Notarangelo/2002 | Blood | 2 | Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood. 2002;99:2268-2269 |
| 2002 | Inoue | Br J Haematol. | 1 | Inoue H, Kurosawa H, Nonoyama S, Imai K, Kumazaki H, Matsunaga T, Sato Y, Sugita K, Eguchi M. X-linked thrombocytopenia in a girl. Br J Haematol. 2002;118:1163-1165 |
| 2002 | Kawai | J Immunol Methods | 4 | Kawai S, Minegishi M, Ohashi Y, Sasahara Y, Kumaki S, Konno T, Miki H, Derry J, Nonoyama S, Miyawaki T, Horibe K, Tachibana N, Kudoh E, Yoshimura Y, Izumikawa Y, Sako M, Tsuchiya S. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. J Immunol Methods. 2002;260:195-205 |
| 2002 | Falet | Blood | 3 | Falet H, Hoffmeister KM, Neujahr R, Hartwig JH. Normal Arp2/3 complex activation in platelets lacking WASp. Blood. 2002;100:2113-2122 |
| 2002 | Luthi | Exp Hematol. | 2 | Luthi JN, Gandhi MJ, Drachman JG. X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP). Exp Hematol. 2003;31:150-158 |
| 2002 | Lutskiy/HumGen | Hum Genet. | 1 | Lutskiy MI, Jones LN, Rosen FS, Remold-O'Donnell E. An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome. Hum Genet. 2002;110:515-519 |
| 2002 | Orange | Proc Natl Acad Sci U S A. | 5 | Orange JS, Ramesh N, Remold-O'Donnell E, Sasahara Y, Koopman L, Byrne M, Bonilla FA, Rosen FS, Geha RS, Strominger JL. Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses. Proc Natl Acad Sci U S A. 2002;99:11351-11356 |
| 2003 | Kawakami | Int J Hematol. | 1 | Kawakami C, Miyake M, Tamai H. Kawasaki disease in a patient with Wiskott-Aldrich syndrome: an increase in the platelet count. Int J Hematol. 2003;77:199-200 |
| 2003 | Wada/2003 | J Clin Invest. | 2 | Wada T, Konno A, Schurman SH, Garabedian EK, Anderson SM, Kirby M, Nelson DL, Candotti F. Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest. 2003;111:1389-1397 |
| 2004 | Imai | Blood | 40 | Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464 |