267 related articles for article (PubMed ID: 16463284)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. A Ser162-->Leu mutation within glycoprotein (GP) IIIa (integrin beta3) results in an unstable alphaIIbbeta3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia.
Jackson DE; White MM; Jennings LK; Newman PJ
Thromb Haemost; 1998 Jul; 80(1):42-8. PubMed ID: 9684783
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia.
Milet-Marsal S; Breillat C; Peyruchaud O; Nurden P; Combrié R; Nurden A; Bourre F
Thromb Haemost; 2002 Jul; 88(1):104-10. PubMed ID: 12152649
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes.
Rosenberg N; Dardik R; Rosenthal E; Zivelin A; Seligsohn U
Thromb Haemost; 1998 Feb; 79(2):244-8. PubMed ID: 9493569
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.
Garcia LC; Breillat C; Lima M; Combrié R; Morais S; Teixera Mdos A; Campos M; Justica B; Nurden AT
Platelets; 2004 Feb; 15(1):15-22. PubMed ID: 14985172
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
