97 related articles for article (PubMed ID: 20106508)
21. Twins With an Identical Novel Mutation in
Lee J; Lee JM; Kim HS; Jung J; Kim Y; Park SY; Kim M; Han E
Ann Lab Med; 2024 May; 44(3):299-302. PubMed ID: 38151855
[No Abstract] [Full Text] [Related]
22. Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion.
Xiao B; Mao J; Sun B; Zhang W; Wang Y; Wang P; Ruan Z; Xi W; Li H; Zhou J; Lu Y; Ding Q; Wang X; Liu J; Yan J; Luo C; Shi X; Yang R; Xi X
Arterioscler Thromb Vasc Biol; 2020 May; 40(5):1296-1310. PubMed ID: 32237906
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Characterization of the cDNA Encoding alphaIIb and beta3 in normal horses and two horses with Glanzmann thrombasthenia.
Christopherson PW; Insalaco TA; van Santen VL; Livesey L; Bourne C; Boudreaux MK
Vet Pathol; 2006 Jan; 43(1):78-82. PubMed ID: 16407493
[TBL] [Abstract][Full Text] [Related]
25. Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.
Pillois X; Nurden AT
Br J Haematol; 2016 Nov; 175(4):686-695. PubMed ID: 27469266
[TBL] [Abstract][Full Text] [Related]
26. Novel mutations in Thai patients with glanzmann thrombasthenia.
Ittiwut R; Suchartlikitwong P; Kittikalayawong Y; Ittiwut C; Prasopsanti K; Sosothikul D; Shotelersuk V; Suphapeetiporn K
Eur J Haematol; 2017 Dec; 99(6):520-524. PubMed ID: 28888044
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
Nurden AT; Pillois X
Platelets; 2018 Jan; 29(1):98-101. PubMed ID: 29125375
[No Abstract] [Full Text] [Related]
29. No genetic abnormalities identified in α2IIb and β3: phenotype overcomes genotype in Glanzmann thrombasthenia.
Kannan M; Saxena R
Int J Lab Hematol; 2017 Apr; 39(2):e41-e44. PubMed ID: 27808476
[No Abstract] [Full Text] [Related]
30. 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]
31. A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.
Guillet B; Bayart S; Pillois X; Nurden P; Caen JP; Nurden AT
J Thromb Haemost; 2019 Dec; 17(12):2211-2215. PubMed ID: 31565851
[TBL] [Abstract][Full Text] [Related]
32. Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families.
Kannan M; Yadav BK; Ahmad F; Saxena R
Int J Lab Hematol; 2010 Feb; 32(1 Pt 1):e158-62. PubMed ID: 19170775
[TBL] [Abstract][Full Text] [Related]
33. Three novel integrin beta3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients.
Ambo H; Kamata T; Handa M; Taki M; Kuwajima M; Kawai Y; Oda A; Murata M; Takada Y; Watanabe K; Ikeda Y
Biochem Biophys Res Commun; 1998 Oct; 251(3):763-8. PubMed ID: 9790984
[TBL] [Abstract][Full Text] [Related]
34. Prenatal diagnosis of Glanzmann thrombasthenia.
Srivastava A; Usher S; Nelson EJ; Jayandharan G; Shaji RV; Chandy M; Seligsohn U; Peretz H
Natl Med J India; 2003; 16(4):207-8. PubMed ID: 14606769
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia.
Macieira S; Lussier J; Bédard C
Can J Vet Res; 2011 Jul; 75(3):222-7. PubMed ID: 22210999
[TBL] [Abstract][Full Text] [Related]
37. Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.
Zafarghandi Motlagh F; Fallah MS; Bagherian H; Shirzadeh T; Ghasri S; Dabbagh S; Jamali M; Salehi Z; Abiri M; Zeinali S
Orphanet J Rare Dis; 2019 Apr; 14(1):87. PubMed ID: 31029159
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis.
Kobayashi Y; Matsui H; Kanai A; Tsumura M; Okada S; Miki M; Nakamura K; Kunishima S; Inaba T; Kobayashi M
Br J Haematol; 2013 Feb; 160(4):521-9. PubMed ID: 23253071
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
