149 related articles for article (PubMed ID: 9834222)
1. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome.
Peyruchaud O; Nurden AT; Milet S; Macchi L; Pannochia A; Bray PF; Kieffer N; Bourre F
Blood; 1998 Dec; 92(11):4178-87. PubMed ID: 9834222
[TBL] [Abstract][Full Text] [Related]
2. A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.
Grimaldi CM; Chen F; Scudder LE; Coller BS; French DL
Blood; 1996 Sep; 88(5):1666-75. PubMed ID: 8781422
[TBL] [Abstract][Full Text] [Related]
3. A three amino acid deletion in glycoprotein IIIa is responsible for type I Glanzmann's thrombasthenia: importance of residues Ile325Pro326Gly327 for beta3 integrin subunit association.
Morel-Kopp MC; Kaplan C; Proulle V; Jallu V; Melchior C; Peyruchaud O; Aurousseau MH; Kieffer N
Blood; 1997 Jul; 90(2):669-77. PubMed ID: 9226167
[TBL] [Abstract][Full Text] [Related]
4. Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.
González-Manchón C; Fernández-Pinel M; Arias-Salgado EG; Ferrer M; Alvarez MV; García-Muñoz S; Ayuso MS; Parrilla R
Blood; 1999 Feb; 93(3):866-75. PubMed ID: 9920835
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.
Tadokoro S; Tomiyama Y; Honda S; Arai M; Yamamoto N; Shiraga M; Kosugi S; Kanakura Y; Kurata Y; Matsuzawa Y
Blood; 1998 Oct; 92(8):2750-8. PubMed ID: 9763559
[TBL] [Abstract][Full Text] [Related]
7. Serine 752 in the cytoplasmic domain of the beta 3 integrin subunit is not required for alpha v beta 3 postreceptor signaling events.
Kieffer N; Melchior C; Guinet JM; Michels S; Gouon V; Bron N
Cell Adhes Commun; 1996 Jul; 4(1):25-39. PubMed ID: 8870971
[TBL] [Abstract][Full Text] [Related]
8. A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.
Lanza F; Stierlé A; Fournier D; Morales M; André G; Nurden AT; Cazenave JP
J Clin Invest; 1992 Jun; 89(6):1995-2004. PubMed ID: 1602006
[TBL] [Abstract][Full Text] [Related]
9. Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.
Ruan J; Schmugge M; Clemetson KJ; Cazes E; Combrie R; Bourre F; Nurden AT
Br J Haematol; 1999 May; 105(2):523-31. PubMed ID: 10233432
[TBL] [Abstract][Full Text] [Related]
10. Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
Ruan J; Peyruchaud O; Alberio L; Valles G; Clemetson K; Bourre F; Nurden AT
Br J Haematol; 1998 Sep; 102(4):918-25. PubMed ID: 9734640
[TBL] [Abstract][Full Text] [Related]
11. A Leu262Pro mutation in the integrin beta(3) subunit results in an alpha(IIb)-beta(3) complex that binds fibrin but not fibrinogen.
Ward CM; Kestin AS; Newman PJ
Blood; 2000 Jul; 96(1):161-9. PubMed ID: 10891446
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.
Kazemi A; Abolghasemi H; Kazemzadeh S; Vahidi R; Faranoush M; Farsinejad A; Ala F
Blood Coagul Fibrinolysis; 2017 Dec; 28(8):681-686. PubMed ID: 29084015
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia.
Tanaka S; Hayashi T; Hori Y; Terada C; Han KS; Ahn HS; Bourre F; Tani Y
Br J Haematol; 2002 Sep; 118(3):833-5. PubMed ID: 12181054
[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. 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]
20. Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.
Chen YP; Djaffar I; Pidard D; Steiner B; Cieutat AM; Caen JP; Rosa JP
Proc Natl Acad Sci U S A; 1992 Nov; 89(21):10169-73. PubMed ID: 1438206
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
