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Journal Abstract Search

380 related items for PubMed ID: 28078347

  • 1. Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B.
    Loroch S, Trabold K, Gambaryan S, Reiß C, Schwierczek K, Fleming I, Sickmann A, Behnisch W, Zieger B, Zahedi RP, Walter U, Jurk K.
    Thromb Haemost; 2017 Feb 28; 117(3):556-569. PubMed ID: 28078347
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  • 2. Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.
    Sandrock-Lang K, Oldenburg J, Wiegering V, Halimeh S, Santoso S, Kurnik K, Fischer L, Tsakiris DA, Sigl-Kraetzig M, Brand B, Bührlen M, Kraetzer K, Deeg N, Hund M, Busse E, Kahle A, Zieger B.
    Thromb Haemost; 2015 Apr 28; 113(4):782-91. PubMed ID: 25373348
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  • 3. In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.
    Pillois X, Peters P, Segers K, Nurden AT.
    Mol Genet Genomic Med; 2018 Mar 28; 6(2):249-260. PubMed ID: 29385657
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  • 6. Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.
    Tokgoz H, Torun Ozkan D, Caliskan U, Akar N.
    Platelets; 2015 Mar 28; 26(8):779-82. PubMed ID: 25734216
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  • 7. Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
    Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, Nugent D, Oiron RD, Rand ML, Sié P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C.
    Hum Mutat; 2015 May 28; 36(5):548-61. PubMed ID: 25728920
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  • 11. Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.
    Zheng JY, Jin YH, Zhu YL, Jin PP, Zhang DT, Jin ZB.
    Chin Med J (Engl); 2010 Jun 28; 123(11):1397-401. PubMed ID: 20819594
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  • 13. A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.
    Shen WZ, Ding QL, Jin PP, Wang XF, Jiang YZ, Li SM, Wang HL.
    Blood Cells Mol Dis; 2009 Jun 28; 42(1):44-50. PubMed ID: 18976939
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  • 14. Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
    Kannan M, Ahmad F, Yadav BK, Kumar R, Choudhry VP, Saxena R.
    J Thromb Haemost; 2009 Nov 28; 7(11):1878-85. PubMed ID: 19691478
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  • 16. First description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia.
    Pillois X, Guy A, Choquet É, James C, Tuffigo M, Viallard JF, Garcia C, Bordet JC, Jandrot-Perrus M, Payrastre B, Fiore M.
    J Thromb Haemost; 2019 May 28; 17(5):795-802. PubMed ID: 30868743
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  • 17. Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
    Park KJ, Chung HS, Lee KO, Park IA, Kim SH, Kim HJ.
    Pediatr Blood Cancer; 2012 Aug 28; 59(2):335-8. PubMed ID: 22190468
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  • 19. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
    Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C.
    Hum Mutat; 2010 Mar 28; 31(3):237-46. PubMed ID: 20020534
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