BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 34275420)

  • 1. New αIIbβ3 variants in 28 Turkish Glanzmann patients; structural hypothesis for complex activation by residues variations in I-EGF domains.
    Koker MY; Sarper N; Albayrak C; Zulfikar B; Zengin E; Saraymen B; Albayrak D; Koc B; Avcilar H; Karakükcü M; Chenet C; Bianchi F; de Brevern AG; Petermann R; Jallu V
    Platelets; 2022 May; 33(4):551-561. PubMed ID: 34275420
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 31(3):237-46. PubMed ID: 20020534
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 6(2):249-260. PubMed ID: 29385657
    [TBL] [Abstract][Full Text] [Related]  

  • 4. αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.
    Morais S; Oliveira J; Lau C; Pereira M; Gonçalves M; Monteiro C; Gonçalves AR; Matos R; Sampaio M; Cruz E; Freitas I; Santos R; Lima M
    PLoS One; 2020; 15(12):e0235136. PubMed ID: 33276370
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 36(5):548-61. PubMed ID: 25728920
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome.
    Hauschner H; Mor-Cohen R; Messineo S; Mansour W; Seligsohn U; Savoia A; Rosenberg N
    Blood Coagul Fibrinolysis; 2015 Apr; 26(3):302-8. PubMed ID: 25806962
    [TBL] [Abstract][Full Text] [Related]  

  • 7. AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3.
    Afrasiabi A; Gelain F; Artoni A; Mannucci PM
    Platelets; 2008 Aug; 19(5):322-7. PubMed ID: 18791937
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 26(8):779-82. PubMed ID: 25734216
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 42(1):44-50. PubMed ID: 18976939
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 113(4):782-91. PubMed ID: 25373348
    [TBL] [Abstract][Full Text] [Related]  

  • 11. αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
    Buitrago L; Rendon A; Liang Y; Simeoni I; Negri A; ; Filizola M; Ouwehand WH; Coller BS
    Proc Natl Acad Sci U S A; 2015 Apr; 112(15):E1898-907. PubMed ID: 25827233
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Immunisation against αIIbβ3 and αvβ3 in a type 1 variant of Glanzmann's thrombasthenia caused by a missense mutation Gly540Asp on β3.
    Wihadmadyatami H; Röder L; Berghöfer H; Bein G; Heidinger K; Sachs UJ; Santoso S
    Thromb Haemost; 2016 Aug; 116(2):262-71. PubMed ID: 27098940
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression.
    Laguerre M; Sabi E; Daly M; Stockley J; Nurden P; Pillois X; Nurden AT
    PLoS One; 2013; 8(11):e78683. PubMed ID: 24236036
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
    Peretz H; Rosenberg N; Landau M; Usher S; Nelson EJ; Mor-Cohen R; French DL; Mitchell BW; Nair SC; Chandy M; Coller BS; Srivastava A; Seligsohn U
    Hum Mutat; 2006 Apr; 27(4):359-69. PubMed ID: 16463284
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombasthenia.
    Koukouritaki SB; Thinn AMM; Ashworth KJ; Fang J; Slater HS; Du LM; Nguyen HTT; Pillois X; Nurden AT; Ng CJ; Di Paola J; Zhu J; Wilcox DA
    Blood Adv; 2023 Jul; 7(13):3180-3191. PubMed ID: 36884296
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 123(11):1397-401. PubMed ID: 20819594
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in Thai patients with glanzmann thrombasthenia.
    Ittiwut R; Suchartlikitwong P; Kittikalayawong Y; Ittiwut C; Prasopsanti K; Sosothikul D; Shotelersuk V; Suphapeetiporn K
    Eur J Haematol; 2017 Dec; 99(6):520-524. PubMed ID: 28888044
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A unique phenotype of acquired Glanzmann thrombasthenia due to non-function-blocking anti-αIIbβ3 autoantibodies.
    Akuta K; Kashiwagi H; Yujiri T; Nishiura N; Morikawa Y; Kato H; Honda S; Kanakura Y; Tomiyama Y
    J Thromb Haemost; 2019 Jan; 17(1):206-219. PubMed ID: 30388316
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.
    D'Andrea G; Bafunno V; Del Vecchio L; Amoriello A; Morabito P; Vecchione G; Grandone E; Margaglione M
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):657-62. PubMed ID: 18832906
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
    Nurden AT; Fiore M; Nurden P; Pillois X
    Blood; 2011 Dec; 118(23):5996-6005. PubMed ID: 21917754
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.