BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

344 related articles for article (PubMed ID: 25806962)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.
    Bury L; Falcinelli E; Chiasserini D; Springer TA; Italiano JE; Gresele P
    Haematologica; 2016 Jan; 101(1):46-56. PubMed ID: 26452979
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.
    González-Manchón C; Butta N; Larrucea S; Arias-Salgado EG; Alonso S; López A; Parrilla R
    Thromb Haemost; 2004 Dec; 92(6):1377-86. PubMed ID: 15583747
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function.
    Morel-Kopp MC; Melchior C; Chen P; Ammerlaan W; Lecompte T; Kaplan C; Kieffer N
    Thromb Haemost; 2001 Dec; 86(6):1425-34. PubMed ID: 11776310
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
    Kunishima S; Kashiwagi H; Otsu M; Takayama N; Eto K; Onodera M; Miyajima Y; Takamatsu Y; Suzumiya J; Matsubara K; Tomiyama Y; Saito H
    Blood; 2011 May; 117(20):5479-84. PubMed ID: 21454453
    [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. Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin.
    Nurden AT; Pillois X; Fiore M; Heilig R; Nurden P
    Semin Thromb Hemost; 2011 Sep; 37(6):698-706. PubMed ID: 22102273
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
    Ghevaert C; Salsmann A; Watkins NA; Schaffner-Reckinger E; Rankin A; Garner SF; Stephens J; Smith GA; Debili N; Vainchenker W; de Groot PG; Huntington JA; Laffan M; Kieffer N; Ouwehand WH
    Blood; 2008 Apr; 111(7):3407-14. PubMed ID: 18065693
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3.
    Mor-Cohen R; Rosenberg N; Peretz H; Landau M; Coller BS; Awidi A; Seligsohn U
    Thromb Haemost; 2007 Dec; 98(6):1257-65. PubMed ID: 18064323
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIb β3 to an active state.
    Hauschner H; Mor-Cohen R; Seligsohn U; Rosenberg N
    J Thromb Haemost; 2012 Feb; 10(2):289-97. PubMed ID: 22136613
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.