| 1 | GT2, GT3, ITGA2B, ITGB3
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| ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
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| Nurden AT, Pillois X.
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| Platelets 29(1):98-101. doi: 10.1080/09537104.2017.1371291. Epub 2017 Nov 10. Review. No abstract available.
2018
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| 2 | FLNA, ITGA2B, ITGB3
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| Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
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| Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M.
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| Arterioscler Thromb Vasc Biol 37(6):1087-1097. doi: 10.1161/ATVBAHA.117.309337. Epub 2017 Apr 20. 2017
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| 3 | ITGA2B, ITGB3
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| Identification of ITGA2B and ITGB3 Single-Nucleotide Polymorphisms and Their Influences on the Platelet Function.
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| Xiang Q, Ji SD, Zhang Z, Zhao X, Cui YM.
|
| Biomed Res Int 2016:5675084. Epub 2016 Nov 14.
2016
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| 4 | ITGA2B, ITGB3
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| Implications of the differing roles of the β1 and β3 transmembrane and cytoplasmic domains for integrin function.
|
| Lu Z, Mathew S, Chen J, Hadziselimovic A, Palamuttam R, Hudson BG, Fässler R, Pozzi A, Sanders CR, Zent R.
|
| Elife 5. pii: e18633. doi: 10.7554/eLife.18633.
2016
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| 5 | ITGA2B, ITGB3
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| The Platelet Integrin αIIbβ3 Differentially Interacts with Fibrin Versus Fibrinogen.
|
| Litvinov RI, Farrell DH, Weisel JW, Bennett JS.
|
| J Biol Chem 291(15):7858-67. doi: 10.1074/jbc.M115.706861. Epub 2016 Feb 10.
2016
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| 6 | DAB2, ITGB3
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| Integrin-beta3 clusters recruit clathrin-mediated endocytic machinery in the absence of traction force.
|
| Yu CH, Rafiq NB, Cao F, Zhou Y, Krishnasamy A, Biswas KH, Ravasio A, Chen Z, Wang YH, Kawauchi K, Jones GE, Sheetz MP.
|
| Nat Commun 6:8672. doi: 10.1038/ncomms9672.
2015
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| 7 | ITGB3
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| Matrix rigidity regulates the transition of tumor cells to a bone-destructive phenotype through integrin β3 and TGF-β receptor type II.
|
| Page JM, Merkel AR, Ruppender NS, Guo R, Dadwal UC, Cannonier SA, Basu S, Guelcher SA, Sterling JA.
|
| Biomaterials 64:33-44. doi: 10.1016/j.biomaterials.2015.06.026. Epub 2015 Jun 16.
2015
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| 8 | ITGB3
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| ß3-integrin inhibits lipopolysaccharide-induced autophagy in cardiomyocytes via the Akt signaling pathway.
|
| Zhu Y, Li L, Gong S, Yu Y, Dai H, Cai G, Yan J.
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| Cardiology 130(4):249-59.
2015
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| 9 | FERMT3, ITGB3
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| Site-specific phosphorylation of kindlin-3 protein regulates its capacity to control cellular responses mediated by integrin αIIbβ3.
|
| Bialkowska K, Byzova TV, Plow EF.
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| J Biol Chem 290(10):6226-42. doi: 10.1074/jbc.M114.634436. Epub 2015 Jan 21.
2015
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| 10 | CDK11A, ITGB3
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| CDK11p58 inhibits ERα-positive breast cancer invasion by targeting integrin β3 via the repression of ERα signaling.
|
| Chi Y, Huang S, Wang L, Zhou R, Wang L, Xiao X, Li D, Cai Y, Zhou X, Wu J.
|
| BMC Cancer 14:577. doi: 10.1186/1471-2407-14-577.
2014
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| 11 | ITGB3
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| Endometrial beta3 integrin profile reflects endometrial receptivity defects in women with unexplained recurrent pregnancy loss.
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| Germeyer A, Savaris RF, Jauckus J, Lessey B.
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| Reprod Biol Endocrinol 12:53. doi: 10.1186/1477-7827-12-53.
2014
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| 12 | ITGB3
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| Vascular endothelial cells promote cortical neurite outgrowth via an integrin β3-dependent mechanism.
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| Sumimoto S, Muramatsu R, Fujii S, Yamashita T.
|
| Biochem Biophys Res Commun 450(1):593-7. doi: 10.1016/j.bbrc.2014.06.012. Epub 2014 Jun 10.
2014
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| 13 | ITGB3, SLC6A4
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| Serotonin transporter and integrin beta 3 genes interact to modulate serotonin uptake in mouse brain.
|
| Whyte A, Jessen T, Varney S, Carneiro AM.
|
| Neurochem Int 73:122-6. doi: 10.1016/j.neuint.2013.09.014. Epub 2013 Sep 29.
2014
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| 14 | FYB1, ITGA2B, ITGB3, SKAP1
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| ADAP interactions with talin and kindlin promote platelet integrin αIIbβ3 activation and stable fibrinogen binding.
|
| Kasirer-Friede A, Kang J, Kahner B, Ye F, Ginsberg MH, Shattil SJ.
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| Blood 123(20):3156-65. doi: 10.1182/blood-2013-08-520627. Epub 2014 Feb 12. 2014
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| 15 | ITGA2B, ITGB3
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| The interaction of integrin αIIbβ3 with fibrin occurs through multiple binding sites in the αIIb β-propeller domain.
|
| Podolnikova NP, Yakovlev S, Yakubenko VP, Wang X, Gorkun OV, Ugarova TP.
|
| J Biol Chem 289(4):2371-83. doi: 10.1074/jbc.M113.518126. Epub 2013 Dec 12.
2014
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| 16 | ITGB3, SKIL
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| PMA induces SnoN proteolysis and CD61 expression through an autocrine mechanism.
|
| Li C, Peart N, Xuan Z, Lewis DE, Xia Y, Jin J.
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| Cell Signal 26(7):1369-78. doi: 10.1016/j.cellsig.2014.03.006. Epub 2014 Mar 15.
2014
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| 17 | ITGB3, SPRY4
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| Sprouty4 regulates endothelial cell migration via modulating integrin β3 stability through c-Src.
|
| Gong Y, Yang X, He Q, Gower L, Prudovsky I, Vary CP, Brooks PC, Friesel RE.
|
| Angiogenesis 16(4):861-75. doi: 10.1007/s10456-013-9361-x. Epub 2013 Aug 17.
2013
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| 18 | ITGB3
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| Structural insights into the recognition of β3 integrin cytoplasmic tail by the SH3 domain of Src kinase.
|
| Katyal P, Puthenveetil R, Vinogradova O.
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| Protein Sci 22(10):1358-65. doi: 10.1002/pro.2323. Epub 2013 Sep 4.
2013
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| 19 | ITGA2B, ITGB3
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| Serine/threonine phosphatases regulate platelet αIIbβ3 integrin receptor outside-in signaling mechanisms and clot retraction.
|
| Moscardó A, Santos MT, Latorre A, Madrid I, Vallés J.
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| Life Sci 93(20):707-13. doi: 10.1016/j.lfs.2013.09.020. Epub 2013 Oct 1.
2013
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| 20 | ITGA2B, ITGB3
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| Activation induced morphological changes and integrin αIIbβ3 activity of living platelets.
|
| Posch S, Neundlinger I, Leitner M, Siostrzonek P, Panzer S, Hinterdorfer P, Ebner A.
|
| Methods 60(2):179-85. doi: 10.1016/j.ymeth.2013.03.034. Epub 2013 Apr 6.
2013
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| 21 | ITGA2B, ITGB3
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| Autocrine amplification of integrin αIIbβ3 activation and platelet adhesive responses by deoxyribose-1-phosphate.
|
| Vara DS, Campanella M, Canobbio I, Dunn WB, Pizzorno G, Hirano M, Pula G.
|
| Thromb Haemost 109(6):1108-19. doi: 10.1160/TH12-10-0751. Epub 2013 Mar 14.
2013
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| 22 | ITGA2B, ITGB3, PTK2B
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| The proline-rich tyrosine kinase Pyk2 regulates platelet integrin αIIbβ3 outside-in signaling.
|
| Cipolla L, Consonni A, Guidetti G, Canobbio I, Okigaki M, Falasca M, Ciraolo E, Hirsch E, Balduini C, Torti M.
|
| J Thromb Haemost 11(2):345-56. doi: 10.1111/jth.12099.
2013
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| 23 | FGF2, HOXA10, ITGB3
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| HoxA10 protein regulates transcription of gene encoding fibroblast growth factor 2 (FGF2) in myeloid cells.
|
| Shah CA, Bei L, Wang H, Platanias LC, Eklund EA.
|
| J Biol Chem 287(22):18230-48. doi: 10.1074/jbc.M111.328401. Epub 2012 Apr 4.
2012
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| 24 | ITGB3
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| Requirement of integrin β3 for iron transportation during enamel formation.
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| Yoshida T, Kumashiro Y, Iwata T, Ishihara J, Umemoto T, Shiratsuchi Y, Kawashima N, Sugiyama T, Yamato M, Okano T.
|
| J Dent Res 91(12):1154-9. doi: 10.1177/0022034512462722. Epub 2012 Oct 12.
2012
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| 25 | ITGA2B, ITGB3
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| Clinical disability progression and platelet GP IIb/IIIa values in patients with atopic myelitis.
|
| Ainiding G, Yamashita K, Torii T, Furuta K, Isobe N, Matsushita T, Masaki K, Matsumoto S, Kira J.
|
| J Neuroimmunol 246(1-2):108-12. doi: 10.1016/j.jneuroim.2012.03.009. Epub 2012 Apr 5.
2012
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| 26 | GT3, ITGB3
|
| Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
|
| Nurden AT, Fiore M, Nurden P, Pillois X.
|
| Blood 118(23):5996-6005. doi: 10.1182/blood-2011-07-365635. Epub 2011 Sep 13. Review.
2011
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| 27 | ITGA2B, ITGB3
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| Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
|
| Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H.
|
| Blood 117(20):5479-84. doi: 10.1182/blood-2010-12-323691. Epub 2011 Mar 31.
2011
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| 28 | ITGA2B, ITGB3
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| CD41 is developmentally regulated and differentially expressed on mouse hematopoietic stem cells.
|
| Robin C, Ottersbach K, Boisset JC, Oziemlak A, Dzierzak E.
|
| Blood 117(19):5088-91. doi: 10.1182/blood-2011-01-329516. Epub 2011 Mar 17.
2011
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| 29 | ITGB3, SLC6A4
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| Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.
|
| Ma DQ, Rabionet R, Konidari I, Jaworski J, Cukier HN, Wright HH, Abramson RK, Gilbert JR, Cuccaro ML, Pericak-Vance MA, Martin ER.
|
| Am J Med Genet B Neuropsychiatr Genet 153B(2):477-83.PMID: 19588468 2010
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| 30 | GT3, ITGB3
|
| 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 31(3):237-46.PMID: 20020534 2010
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| 31 | ITGA2B, ITGB3
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| Predictive value of platelet activation for the rate of cognitive decline in Alzheimer's disease patients.
|
| Stellos K, Panagiota V, Kögel A, Leyhe T, Gawaz M, Laske C.
|
| J Cereb Blood Flow Metab 30(11):1817-20. Epub 2010 Aug 18.PMID: 20717123 2010
|
| 32 | ITGA2B, ITGB3
|
| Dynamic regulation of fibrinogen: integrin αIIbβ3 binding.
|
| Hantgan RR, Stahle MC, Lord ST.
|
| Biochemistry 49(43):9217-25. doi: 10.1021/bi1009858.
2010
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| 33 | ITGA2B, ITGB3
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| A unique interaction between alphaIIb and beta3 in the head region is essential for outside-in signaling-related functions of alphaIIbbeta3 integrin.
|
| Hauschner H, Landau M, Seligsohn U, Rosenberg N.
|
| Blood 115(22):4542-50. doi: 10.1182/blood-2009-10-251066. Epub 2010 Mar 22.
2010
|
| 34 | ITGB3
|
| Proapoptotic function of integrin beta(3) in human hepatocellular carcinoma cells.
|
| Wu Y, Zuo J, Ji G, Saiyin H, Liu X, Yin F, Cao N, Wen Y, Li JJ, Yu L.
|
| Clin Cancer Res 15(1):60-9.PMID: 19118033 2009
|
| 35 | ITGA2B, ITGB3
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| Structure of an integrin alphaIIb beta3 transmembrane-cytoplasmic heterocomplex provides insight into integrin activation.
|
| Yang J, Ma YQ, Page RC, Misra S, Plow EF, Qin J.
|
| Proc Natl Acad Sci U S A 106(42):17729-34. doi: 10.1073/pnas.0909589106. Epub 2009 Oct 1.
2009
|
| 36 | ITGA2B, ITGB3
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| Evidence that integrin alpha IIb beta 3-dependent interaction of mast cells with fibrinogen exacerbates chronic inflammation.
|
| Oki T, Eto K, Izawa K, Yamanishi Y, Inagaki N, Frampton J, Kitamura T, Kitaura J.
|
| J Biol Chem 284(45):31463-72. doi: 10.1074/jbc.M109.030213. Epub 2009 Sep 15.
2009
|
| 37 | FOXC2, ITGB3
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| The Foxc2 transcription factor regulates angiogenesis via induction of integrin beta3 expression.
|
| Hayashi H, Sano H, Seo S, Kume T.
|
| J Biol Chem 283(35):23791-800. Epub 2008 Jun 24.
2008
|
| 38 | GPNMB, ITGB1, ITGB3
|
| Osteoactivin is a novel osteoclastic protein and plays a key role in osteoclast differentiation and activity.
|
| Sheng MH, Wergedal JE, Mohan S, Lau KH.
|
| FEBS Lett 582(10):1451-8. Epub 2008 Mar 31. 2008
|
| 39 | ITGA2B, ITGB3
|
| Factor H binds to platelet integrin alphaIIbbeta3.
|
| Mnjoyan Z, Li J, Afshar-Kharghan V.
|
| Platelets 19(7):512-9. doi: 10.1080/09537100802238494.
2008
|
| 40 | ITGA2B, ITGB3, MMP2
|
| MMP-2 regulates human platelet activation by interacting with integrin alphaIIbbeta3.
|
| Choi WS, Jeon OH, Kim HH, Kim DS.
|
| J Thromb Haemost 6(3):517-23. Epub 2007 Dec 12.
2008
|
| 41 | HTR5A, SLC6A4, ITGB3
|
| Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels.
|
| Coutinho AM, Sousa I, Martins M, Correia C, Morgadinho T, Bento C, Marques C, Ataide A, Miguel TS, Moore JH, Oliveira G, Vicente AM.
|
| Hum Genet 121(2):243-56. Epub 2007 Jan 3. 2007
|
| 42 | ITGB3, MARCKSL1
|
| The regulation of MacMARCKS expression by integrin beta3.
|
| van den Bout I, Truong HH, Huveneers S, Kuikman I, Danen EH, Sonnenberg A.
|
| Exp Cell Res 313(6):1260-9. Epub 2007 Jan 12.
2007
|
| 43 | ITGA2B, ITGB3
|
| Platelet integrin alpha(IIb)beta(3): activation mechanisms.
|
| Ma YQ, Qin J, Plow EF.
|
| J Thromb Haemost 5(7):1345-52. Review.
2007
|
| 44 | NFATC1, ITGB3
|
| NFATc1 regulation of the human beta3 integrin promoter in osteoclast differentiation.
|
| Crotti TN, Flannery M, Walsh NC, Fleming JD, Goldring SR, McHugh KP.
|
| Gene 372:92-102. Epub 2006 Mar 2. 2006
|
| 45 | ITGB3
|
| Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.
|
| Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook EH, Ober C, Sutcliffe JS.
|
| Eur J Hum Genet 14(8):923-31. Epub 2006 May 17. 2006
|
| 46 | ITGA1, ITGB3
|
| Expression of alpha 1 and beta 3 integrins subunits in the endometrium of patients with tubal phimosis or hydrosalpinx.
|
| Savaris RF, Pedrini JL, Flores R, Fabris G, Zettler CG.
|
| Fertil Steril 85(1):188-92. 2006
|
| 47 | ITGA2, ITGB3
|
| Integrin alpha-2 and beta-3 gene polymorphisms and breast cancer risk.
|
| Langsenlehner U, Renner W, Yazdani-Biuki B, Eder T, Wascher TC, Paulweber B, Clar H, Hofmann G, Samonigg H, Krippl P.
|
| Breast Cancer Res Treat 97(1):67-72. 2006
|
| 48 | ITGA3, ITGB1, ITGB3, ITGAV
|
| Integrin alpha3beta1, a novel receptor for alpha3(IV) noncollagenous domain and a trans-dominant Inhibitor for integrin alphavbeta3.
|
| Borza CM, Pozzi A, Borza DB, Pedchenko V, Hellmark T, Hudson BG, Zent R.
|
| J Biol Chem 281(30):20932-9. Epub 2006 May 26. 2006
|
| 49 | MCAM, CDH2, ITGB3
|
| The role of N-cadherin, MCAM and beta3 integrin in melanoma progression, proliferation, migration and invasion.
|
| Watson-Hurst K, Becker D.
|
| Cancer Biol Ther 5(10):1375-82. Epub 2006 Oct 26. 2006
|
| 50 | ITGB3
|
| Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample.
|
| Weiss LA, Abney M, Parry R, Scanu AM, Cook EH Jr, Ober C.
|
| Hum Genet 117(1):81-7. Epub 2005 Apr 15. 2005
|
| 51 | ADAM12,ITGB1,ITGB3
|
| ADAM12-mediated focal adhesion formation is differently regulated by beta1 and beta3 integrins.
|
| Thodeti CK, Frohlich C, Nielsen CK, Takada Y, Fassler R, Albrechtsen R, Wewer UM.
|
| FEBS Lett 579(25):5589-95. Epub 2005 Sep 28. 2005
|
| 52 | ITGB3, EMP2
|
| Epithelial membrane protein-2 regulates surface expression of alphavbeta3 integrin in the endometrium.
|
| Wadehra M, Forbes A, Pushkarna N, Goodglick L, Gordon LK, Williams CJ, Braun J.
|
| Dev Biol 287(2):336-45. Epub 2005 Oct 10. 2005
|
| 53 | ITGB3
|
| Genetic variation of the platelet- surface integrin GPIIb-IIIa (PIA1/A2-SNP) shows a high association with Type 2 diabetes mellitus.
|
| Tschoepe D, Menart B, Ferber P, Altmann C, Haude M, Haastert B, Roesen P.
|
| Diabetologia 46(7):984-9. Epub 2003 Jun 21. 2003
|
| 54 | ITGB3
|
| Thrombophilic polymorphisms in pre-eclampsia : altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa.
|
| O'Shaughnessy KM, Fu B, Downing S, Morris NH.
|
| J Med Genet 38 : 775-777. 2001
|
| 55 | GT2,GT3,ITGA2B,ITGB3
|
| 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.
|
| Gonzalez-Manchon C, et al.
|
| Blood 93(3):866-75. 1999
|
| 56 | ITGB3
|
| An adenine trimer precedes a C/G polymorphism in the 3'-amplimer region of the human platelet glycoprotein IIIa intron 6 CT repeat.
|
| Denomme GA.
|
| Hum Hered 48(2):115-8. 1998
|
| 57 | ITGB3, SERPINE1
|
| Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population.
|
| Pastinen T, et al.
|
| Hum Mol Genet 7 : 1453-1462. 1998
|
| 58 | ITGB3
|
| Human integrin beta3 gene rxpression : evidence for a megakaryocytic cell-specific cis-acting element.
|
| Jin Y, et al.
|
| Blood 92 : 2777-2790. 1998
|
| 59 | GT3,ITGB3
|
| 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 251 : 763-768. 1998
|
| 60 | GT3,ITGB3
|
| A Glanzmann thrombasthenia-like phenotype caused by a defect in inside-out signaling through the integrin alpha(IIb)beta3.
|
| Tomiyama Y, Shiraga M, Kinoshita S, Ambo H, Kurata Y, Matsuzawa Y, Kunicki TJ.
|
| Thromb Haemost 80 : 735-742. 1998
|
| 61 | GT2,GT3,ITGA2B,ITGB3
|
| Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb : novel mutation in exon 11 of GPIIIa associated with thrombasthenia.
|
| Ferrer M, et al.
|
| Blood 92 : 4712-4720. 1998
|
| 62 | ITGB3
|
| PIA1/A2 polymorphism of platelet glycoprotein IIIa and risks of myocardial infarction, stroke, and venous thrombosis.
|
| Ridker PM, et al.
|
| Lancet 349 : 385-388. 1997
|
| 63 | GT3,ITGB3
|
| Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder.
|
| Rosenberg N, Yatuv R, Orion Y, Zivelin A, Dardik R, Peretz H, Seligsohn U.
|
| Blood 89(10):3654-62. 1997
|
| 64 | GT3,ITGB3
|
| 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 90(2):669-77. 1997
|
| 65 | GT3,ITGB3
|
| Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
|
| Jin Y, et al.
|
| J Clin Invest 98 : 1745-1754. 1996
|
| 66 | ITGB3
|
| An additional HpaII polymorphism in exon 2 of the human platelet membrane glycoprotein IIIa gene.
|
| Perichon B, et al.
|
| Hum Genet 93 : 353-354. 1994
|
| 67 | ITGB3
|
| A point mutation leads to an unpaired cysteine residue and a molecular weight polymorphism of a functional platelet beta3 integrin subunit.
|
| Santoso S, et al.
|
| J Biol Chem 269 : 8439-8444. 1994
|
| 68 | ITGB3
|
| A point mutation in the integrin beta3 cytoplasmic domain (S752-P) impairs bidirectional signaling through alphaIIbbeta3 (platelet glycoprotein IIb-IIIa).
|
| Chen YP, et al.
|
| Blood 84 : 1857-1865. 1994
|
| 69 | ITGB3
|
| A new alternative transcript encodes a 60 kDa truncated form of integrin beta 3.
|
| Djaffar I, Chen YP, Creminon C, Maclouf J, Cieutat AM, Gayet O, Rosa JP.
|
| Biochem J 300 ( Pt 1):69-74. 1994
|
| 70 | GT3,ITGB3
|
| A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIIIa (integrin beta3) Arg214 by Trp.
|
| Djaffar I, et al.
|
| Hum Mol Genet 2 : 2179-2180. 1993
|
| 71 | GT3,ITGB3
|
| A large alteration in the human platelet glycoprotein IIIa (integrin beta3) gene associated with Glanzmann's thrombasthenia.
|
| Djaffar I, et al.
|
| Hum Mol Genet 2 : 2183-2185. 1993
|
| 72 | GT3,ITGB3
|
| Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.
|
| Li L, et al.
|
| Am J Hum Genet 53 : 140-149. 1993
|
| 73 | ITGB3
|
| Single point mutation in human glycoprotein IIIa is associated with a new platelet-specific alloantigen (Mo) involved in neonatal alloimmune thrombocytopenia.
|
| Kuijpers RW, et al.
|
| Blood 81 : 70-76. 1993
|
| 74 | ITGB3
|
| Microsatellite polymorphism in the human platelet glycoprotein llla gene (GP3A) on chromosome 17.
|
| Stoffel M, et al.
|
| Nucleic Acids Res 20 : 1172. 1992
|
| 75 | GT3,ITGB3
|
| 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, et al.
|
| J Clin Invest 89 : 1995-2004. 1992
|
| 76 | ITGB3
|
| Homologous recombination between 3 intragene Alu sequences causes a deletion-inversion resulting in the hereditary bleeding disorder, Glanzmann thrombasthenia.
|
| Bray PF, et al.
|
| Am J Hum Genet 51 : A209. 1992
|
| 77 | ITGB3
|
| An amino acid polymorphism within the RGD binding domain of platelet membrane glycoprotein IIIa is responsible for the formation of the Pen-a/Pen-b alloantigen system.
|
| Wang R, et al.
|
| J Clin Invest 90 : 2038-2043. 1992
|
| 78 | GT3,ITGB3
|
| Ser-752--Pro mutation in the cytoplasmic domain of integrin beta3 subunit and defective activation of platelet integrin alphaIIb-beta3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.
|
| Chen YP, et al.
|
| Proc Natl Acad Sci U S A 89 : 10169-10173. 1992
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| 79 | ITGA2B, ITGB3, GT2, GT3
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| The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.
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| Newman PJ, et al.
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| Proc Natl Acad Sci U S A 88 : 3160-3164. 1991
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| 80 | GT3,ITGB3
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| Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia.
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| Bray PF, et al.
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| Blood 75 : 881-888. 1990
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| 81 | ITGB3
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| Characterization of the human platelet glycoprotein IIIa gene. Comparison with the fibronectin receptor beta-subunit gene.
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| Lanza F, Kieffer N, Phillips DR, Fitzgerald LA.
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| J Biol Chem 265(30):18098-103. 1990
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| 82 | ITGB3
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| Assignment of GP3A gene to chromosome 17 (somatic cell hybrid analysis), region q21.1-q21.3 (in situ hybridization).
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| Nguyen Van Cong, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1096-1097. 1989
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| 83 | GT2,GT3,ITGA2B,ITGB3
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| Glanzmann's thrombasthenia.
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| Caen JP.
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| Baillire Clin Haematol 2 : 609-625. 1989
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| 84 | ITGB3
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| An alternative cytoplasmic domain of the integrin beta 3 subunit.
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| van Kuppevelt TH, Languino LR, Gailit JO, Suzuki S, Ruoslahti E.
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| Proc Natl Acad Sci U S A 86(14):5415-8. 1989
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| 85 | ITGA2B, ITGB3
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| Physical linkage of the genes for platelet membrane glycoproteins IIb and IIIa.
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| Bray PF, Barsh G, Rosa JP, Luo XY, Magenis E, Shuman MA.
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| Proc Natl Acad Sci U S A 85 : 8683-8687. 1988
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| 86 | ITGA2B, ITGB3, ITGAV, ITGA5, ITGB1
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| Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa.
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| Sosnoski DM, Emanuel BS, Hawkins AL, van Tuinen P, Ledbetter DH, Nussbaum RL, Kaos FT, Schwartz E, Phillips D, Bennett JS, et al.
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| J Clin Invest 81(6):1993-8. 1988
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| 87 | ITGB3
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| A Taq 1 polymorphism for the human platelet glycoprotein IIIa gene (GP3A).
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| Burk C, et al.
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| Nucleic Acids Res 16 : 7216. 1988
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| 88 | ITGB3
|
| Cloning of glycoprotein IIIa cDNA from human erythroleukemia cells and localization of the gene to chromosome 17.
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| Rosa JP, et al.
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| Blood 72 : 593-600. 1988
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