BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 19006568)

  • 1. 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. PubMed ID: 19006568
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 24402308
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 11242115
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive.
    Keszei M; Record J; Kritikou JS; Wurzer H; Geyer C; Thiemann M; Drescher P; Brauner H; Köcher L; James J; He M; Baptista MA; Dahlberg CI; Biswas A; Lane DP; Song W; Pütsep K; Vandenberghe P; Snapper SB; Westerberg LS
    J Clin Invest; 2018 Aug; 128(9):4115-4131. PubMed ID: 30124469
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 19082760
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.
    Westerberg LS; Meelu P; Baptista M; Eston MA; Adamovich DA; Cotta-de-Almeida V; Seed B; Rosen MK; Vandenberghe P; Thrasher AJ; Klein C; Alt FW; Snapper SB
    J Exp Med; 2010 Jun; 207(6):1145-52. PubMed ID: 20513746
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
    Marx D; Dupuis A; Eckly A; Molitor A; Olagne J; Touchard G; Kaaki S; Ory C; Faller AL; Gérard B; Cotter M; Westerberg L; Keszei M; Moulin B; Gachet C; Caillard S; Bahram S; Carapito R
    Blood Adv; 2022 Sep; 6(18):5279-5284. PubMed ID: 35404999
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The mouse homolog of the mutant WASp responsible for human X-linked neutropenia renders granulopoiesis ineffective.
    Ikeda M; Futami M; Chanda B; Kobayashi M; Izawa K; Tojo A
    Biochem Biophys Res Commun; 2022 Sep; 622():177-183. PubMed ID: 35932529
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6.
    Takimoto T; Takada H; Ishimura M; Kirino M; Hata K; Ohara O; Morio T; Hara T
    Neonatology; 2015; 107(3):185-90. PubMed ID: 25633059
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
    He M; Saeed MB; Record J; Keszei M; Gonçalves Pinho L; Vasconcelos-Fontes L; D'Aulerio R; Vieira R; Oliveira MMS; Geyer C; Bohaumilitzky L; Thiemann M; Deordieva E; Buedts L; Matias Lopes JP; Pershin D; Hammarström L; Xia Y; Zhao X; Cunningham-Rundles C; Thrasher AJ; Burns SO; Cotta-de-Almeida V; Liu C; Shcherbina A; Vandenberghe P; Westerberg LS
    J Allergy Clin Immunol; 2022 Mar; 149(3):1069-1084. PubMed ID: 34384840
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [X-linked neutropenia caused by gain-of-function mutation in WAS gene: two cases report and literature review].
    Xia Y; Huang Y; Huang YY; Yang J
    Zhonghua Er Ke Za Zhi; 2019 Aug; 57(8):631-635. PubMed ID: 31352750
    [No Abstract]   [Full Text] [Related]  

  • 12. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
    Ancliff PJ; Blundell MP; Cory GO; Calle Y; Worth A; Kempski H; Burns S; Jones GE; Sinclair J; Kinnon C; Hann IM; Gale RE; Linch DC; Thrasher AJ
    Blood; 2006 Oct; 108(7):2182-9. PubMed ID: 16804117
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 355(17):1790-3. PubMed ID: 17065640
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
    Liu DW; Zhang ZY; Zhao Q; Jiang LP; Liu W; Tu WW; Song WX; Zhao XD
    Pediatr Blood Cancer; 2015 Sep; 62(9):1601-8. PubMed ID: 25931402
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes.
    Burns SO; Killock DJ; Moulding DA; Metelo J; Nunes J; Taylor RR; Forge A; Thrasher AJ; Ivetic A
    Blood; 2010 Jul; 115(26):5355-65. PubMed ID: 20354175
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function.
    Blundell MP; Worth A; Bouma G; Thrasher AJ
    Dis Markers; 2010; 29(3-4):157-75. PubMed ID: 21178275
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 17390083
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].
    Liu N; Shi H; Kong X; Wu Q; Xu X; Bai Q; Feng Y; Zhao Z
    Zhonghua Er Ke Za Zhi; 2014 Sep; 52(9):662-6. PubMed ID: 25476427
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study.
    Ferrua F; Cicalese MP; Galimberti S; Giannelli S; Dionisio F; Barzaghi F; Migliavacca M; Bernardo ME; Calbi V; Assanelli AA; Facchini M; Fossati C; Albertazzi E; Scaramuzza S; Brigida I; Scala S; Basso-Ricci L; Pajno R; Casiraghi M; Canarutto D; Salerio FA; Albert MH; Bartoli A; Wolf HM; Fiori R; Silvani P; Gattillo S; Villa A; Biasco L; Dott C; Culme-Seymour EJ; van Rossem K; Atkinson G; Valsecchi MG; Roncarolo MG; Ciceri F; Naldini L; Aiuti A
    Lancet Haematol; 2019 May; 6(5):e239-e253. PubMed ID: 30981783
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two cases of Wiskott-Aldrich syndrome in neonates due to gene mutations.
    Zhang S; Zhang R; Chen C; Sun J
    Fetal Pediatr Pathol; 2013 Jul; 32(4):312-5. PubMed ID: 23301916
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.