230 related articles for article (PubMed ID: 20020534)
1. 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]
2. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
Nurden AT; Fiore M; Nurden P; Heilig R; Pillois X
Platelets; 2011; 22(7):547-51. PubMed ID: 21557682
[TBL] [Abstract][Full Text] [Related]
9. Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families.
Sandrock K; Halimeh S; Wiegering V; Kappert G; Sauer K; Deeg N; Busse E; Zieger B
Klin Padiatr; 2012 Apr; 224(3):174-8. PubMed ID: 22513797
[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. 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; 59(2):335-8. PubMed ID: 22190468
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.
Jayo A; Pabón D; Lastres P; Jiménez-Yuste V; González-Manchón C
Haematologica; 2006 Oct; 91(10):1352-9. PubMed ID: 17018384
[TBL] [Abstract][Full Text] [Related]
17. A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure.
Pillois X; Fiore M; Heilig R; Pico M; Nurden AT
Platelets; 2013; 24(1):77-80. PubMed ID: 22394243
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.
Nurden AT; Pillois X; Nurden P
Expert Rev Hematol; 2012 Oct; 5(5):487-503. PubMed ID: 23146053
[TBL] [Abstract][Full Text] [Related]
20. A two-amino acid insertion in the Cys146- Cys167 loop of the alphaIIb subunit is associated with a variant of Glanzmann thrombasthenia. Critical role of Asp163 in ligand binding.
Honda S; Tomiyama Y; Shiraga M; Tadokoro S; Takamatsu J; Saito H; Kurata Y; Matsuzawa Y
J Clin Invest; 1998 Sep; 102(6):1183-92. PubMed ID: 9739052
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
