189 related articles for article (PubMed ID: 9798966)
1. A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression--analysis of two novel mutations in a kindred with type I glanzmann thrombasthenia.
Scott JP; Scott JP; Chao YL; Newman PJ; Ward CM
Thromb Haemost; 1998 Oct; 80(4):546-50. PubMed ID: 9798966
[TBL] [Abstract][Full Text] [Related]
2. Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.
Vannier C; Behnisch W; Bartsch I; Sandrock K; Ertle F; Schmidt K; Busse A; Superti-Furga A; Kulozik A; Santoso S; Zieger B
Klin Padiatr; 2010 May; 222(3):150-3. PubMed ID: 20514618
[TBL] [Abstract][Full Text] [Related]
3. A 1063G-->A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb.
Tao J; Arias-Salgado EG; González-Manchón C; Iruín G; Butta N; Ayuso MS; Parrilla R
Br J Haematol; 2000 Dec; 111(3):965-73. PubMed ID: 11122161
[TBL] [Abstract][Full Text] [Related]
4. Type I Glanzmann thrombasthenia: most common subtypes in North Indians.
Kannan M; Ahmed RP; Jain P; Kumar R; Choudhry VP; Saxena R
Am J Hematol; 2003 Oct; 74(2):139-41. PubMed ID: 14508803
[TBL] [Abstract][Full Text] [Related]
5. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
Tomiyama Y; Kashiwagi H; Kosugi S; Shiraga M; Kanayama Y; Kurata Y; Matsuzawa Y
Thromb Haemost; 1995 May; 73(5):756-62. PubMed ID: 7482399
[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. Glanzmann's thrombasthenia: updated.
Nair S; Ghosh K; Kulkarni B; Shetty S; Mohanty D
Platelets; 2002 Nov; 13(7):387-93. PubMed ID: 12487785
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. 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]
11. 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]
12. 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]
13. A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.
Ruiz C; Liu CY; Sun QH; Sigaud-Fiks M; Fressinaud E; Muller JY; Nurden P; Nurden AT; Newman PJ; Valentin N
Blood; 2001 Oct; 98(8):2432-41. PubMed ID: 11588040
[TBL] [Abstract][Full Text] [Related]
14. A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.
Losonczy G; Rosenberg N; Kiss C; Kappelmayer J; Vereb G; Kerényi A; Balogh I; Muszbek L
Thromb Haemost; 2005 May; 93(5):904-9. PubMed ID: 15886807
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.
Vinciguerra C; Bordet JC; Beaune G; Grenier C; Dechavanne M; Négrier C
Platelets; 2001 Dec; 12(8):486-95. PubMed ID: 11798398
[TBL] [Abstract][Full Text] [Related]
18. A mutant (Arg327-->His) GPIIb associated to thrombasthenia exerts a dominant negative effect in stably transfected CHO cells.
Ferrer M; Fernández-Pinel M; González-Manchón C; González J; Ayuso MS; Parrilla R
Thromb Haemost; 1996 Sep; 76(3):292-301. PubMed ID: 8883261
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia.
Yatuv R; Rosenberg N; Zivelin A; Peretz H; Dardik R; Trakhtenbrot L; Seligsohn U
Blood; 2001 Aug; 98(4):1063-9. PubMed ID: 11493452
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
