206 related articles for article (PubMed ID: 21454453)
1. 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]
2. A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.
Miyashita N; Onozawa M; Hayasaka K; Yamada T; Migita O; Hata K; Okada K; Goto H; Nakagawa M; Hashimoto D; Kahata K; Kondo T; Kunishima S; Teshima T
Ann Hematol; 2018 Apr; 97(4):629-640. PubMed ID: 29380037
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. Knock-in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction.
Akuta K; Kiyomizu K; Kashiwagi H; Kunishima S; Nishiura N; Banno F; Kokame K; Kato H; Kanakura Y; Miyata T; Tomiyama Y
J Thromb Haemost; 2020 Feb; 18(2):497-509. PubMed ID: 31691484
[TBL] [Abstract][Full Text] [Related]
7. Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α-granules.
Favier M; Bordet JC; Favier R; Gkalea V; Pillois X; Rameau P; Debili N; Alessi MC; Nurden P; Raslova H; Nurden A
Am J Hematol; 2018 Feb; 93(2):195-204. PubMed ID: 29090484
[TBL] [Abstract][Full Text] [Related]
8. β-Subunit Binding Is Sufficient for Ligands to Open the Integrin αIIbβ3 Headpiece.
Lin FY; Zhu J; Eng ET; Hudson NE; Springer TA
J Biol Chem; 2016 Feb; 291(9):4537-46. PubMed ID: 26631735
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3.
Basani RB; French DL; Vilaire G; Brown DL; Chen F; Coller BS; Derrick JM; Gartner TK; Bennett JS; Poncz M
Blood; 2000 Jan; 95(1):180-8. PubMed ID: 10607701
[TBL] [Abstract][Full Text] [Related]
13. First description of an IgM monoclonal antibody causing α
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; 17(5):795-802. PubMed ID: 30868743
[TBL] [Abstract][Full Text] [Related]
14. The novel S527F mutation in the integrin beta3 chain induces a high affinity alphaIIbbeta3 receptor by hindering adoption of the bent conformation.
Vanhoorelbeke K; De Meyer SF; Pareyn I; Melchior C; Plançon S; Margue C; Pradier O; Fondu P; Kieffer N; Springer TA; Deckmyn H
J Biol Chem; 2009 May; 284(22):14914-20. PubMed ID: 19329429
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
