250 related articles for article (PubMed ID: 25827233)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
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. 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]
9. Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.
Ali T; Gul S; Amar A; Shakoor M; Farhan S; Mohsin S; Khaliq S
Int J Lab Hematol; 2020 Oct; 42(5):628-635. PubMed ID: 32558238
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.
Nelson EJ; Nair SC; Peretz H; Coller BS; Seligsohn U; Chandy M; Srivastava A
J Thromb Haemost; 2006 Aug; 4(8):1730-7. PubMed ID: 16879215
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.
Nurden AT; Ruan J; Pasquet JM; Gauthier B; Combrié R; Kunicki T; Nurden P
Platelets; 2002 Mar; 13(2):101-11. PubMed ID: 11897046
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.
Grimaldi CM; Chen F; Wu C; Weiss HJ; Coller BS; French DL
Blood; 1998 Mar; 91(5):1562-71. PubMed ID: 9473221
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia.
Tanaka S; Hayashi T; Yoshimura K; Nakayama M; Fujita T; Amano T; Tani Y
J Thromb Haemost; 2005 Jan; 3(1):68-73. PubMed ID: 15634267
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]