1 | NIBAN2, RASA1
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| EGFR phosphorylates FAM129B to promote Ras activation
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| Ji H, Lee JH, Wang Y, Pang Y, Zhang T, Xia Y, Zhong L, Lyu J, Lu Z.
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| Proc Natl Acad Sci U S A. Jan 19;113(3):644-9. doi: 10.1073/pnas.1517112113. Epub 2015 Dec 31 2016
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2 | EPHB4, MTOR, RASA1
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| RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity.
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| Kawasaki J, Aegerter S, Fevurly RD, Mammoto A, Mammoto T, Sahin M, Mably JD, Fishman SJ, Chan J.
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| J Clin Invest 124(6):2774-84. doi: 10.1172/JCI67084. Epub 2014 May 16.
2014
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3 | CPLM, RASA1
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| RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
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| Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M.
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| Hum Mutat 34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10.
2013
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4 | CPLM, RASA1
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| A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.
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| Durrington HJ, Firth HV, Patient C, Belham M, Jayne D, Burrows N, Morrell NW, Chilvers ER.
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| Am J Med Genet A 161A(7):1690-4. doi: 10.1002/ajmg.a.35935. Epub 2013 May 17.
2013
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5 | RASA1
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| Ras GTPase activating (RasGAP) activity of the dual specificity GAP protein Rasal requires colocalization and C2 domain binding to lipid membranes.
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| Sot B, Behrmann E, Raunser S, Wittinghofer A.
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| Proc Natl Acad Sci U S A 110(1):111-6. doi: 10.1073/pnas.1201658110. Epub 2012 Dec 18.
2013
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6 | IFT43, RASA1
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| The Small GTPase Rsg1 is important for the cytoplasmic localization and axonemal dynamics of intraflagellar transport proteins.
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| Brooks ER, Wallingford JB.
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| Cilia Oct 7;2:13. doi: 10.1186/2046-2530-2-13. eCollection 2013. 2013
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7 | KRAS, NS1, PTPN11, RASA1
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| Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
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| De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A.
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| Proc Natl Acad Sci U S A 109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27.
2012
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8 | CPLM, RASA1
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| Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.
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| de Wijn RS, Oduber CE, Breugem CC, Alders M, Hennekam RC, van der Horst CM.
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| Eur J Med Genet 55(3):191-5. doi: 10.1016/j.ejmg.2012.01.009. Epub 2012 Jan 28.
2012
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9 | RASA1
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| RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice.
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| Lapinski PE, Kwon S, Lubeck BA, Wilkinson JE, Srinivasan RS, Sevick-Muraca E, King PD.
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| J Clin Invest 122(2):733-47. doi: 10.1172/JCI46116. Epub 2012 Jan 9.
2012
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10 | CPLM, DEL5Q14, MEF2C, RASA1
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| 5q14.3 neurocutaneous syndrome: a novel contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
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| Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA.
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| Am J Med Genet A 155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27. 2011
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11 | RAB21, RASA1
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| Competitive binding of Rab21 and p120RasGAP to integrins regulates receptor traffic and migration.
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| Mai A, Veltel S, Pellinen T, Padzik A, Coffey E, Marjomäki V, Ivaska J.
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| J Cell Biol 194(2):291-306. Epub 2011 Jul 18.
2011
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12 | RASA1
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| A role for p120 RasGAP in thymocyte positive selection and survival of naive T cells.
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| Lapinski PE, Qiao Y, Chang CH, King PD.
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| J Immunol 187(1):151-63. doi: 10.4049/jimmunol.1100178. Epub 2011 Jun 6.
2011
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13 | RASA1
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| Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome.
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| Zhou Q, Zheng JW, Yang XJ, Wang HJ, Ma D, Qin ZP.
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| Childs Nerv Syst 27(4):603-7. doi: 10.1007/s00381-010-1258-z. Epub 2010 Sep 7.
2011
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14 | EPHA1, RASA1
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| EphrinA/EphA signal facilitates insulin-like growth factor-I-induced myogenic differentiation through suppression of the Ras/extracellular signal-regulated kinase 1/2 cascade in myoblast cell lines.
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| Minami M, Koyama T, Wakayama Y, Fukuhara S, Mochizuki N.
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| Mol Biol Cell 22(18):3508-19. doi: 10.1091/mbc.E11-03-0183. Epub 2011 Jul 27.
2011
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15 | NCK1, RASA1
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| Adaptor protein Nck1 interacts with p120 Ras GTPase-activating protein and regulates its activity.
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| Ger M, Zitkus Z, Valius M.
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| Cell Signal 23(10):1651-8. doi: 10.1016/j.cellsig.2011.05.019. Epub 2011 Jun 2.
2011
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16 | CPLM, RASA1
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| A novel association between RASA1 mutations and spinal arteriovenous anomalies.
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| Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB.
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| AJNR Am J Neuroradiol 31(4):775-9. doi: 10.3174/ajnr.A1907. Epub 2009 Dec 10.
2010
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17 | ARHGAP35, PTK2, RASA1
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| A FAK-p120RasGAP-p190RhoGAP complex regulates polarity in migrating cells.
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| Tomar A, Lim ST, Lim Y, Schlaepfer DD.
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| J Cell Sci 122(Pt 11):1852-62. Epub 2009 May 12. Erratum in: J Cell Sci. 2009 Aug 15;122(Pt 16):3005. PMID: 1943580 2009
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18 | DLC1, RASA1
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| p120Ras-GAP binds the DLC1 Rho-GAP tumor suppressor protein and inhibits its RhoA GTPase and growth-suppressing activities.
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| Yang XY, Guan M, Vigil D, Der CJ, Lowy DR, Popescu NC.
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| Oncogene 28(11):1401-9. Epub 2009 Jan 19.PMID: 19151751 2009
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19 | CPLM, RASA1
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| Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
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| Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M.
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| Hum Mutat 29(7):959-65.
2008
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20 | ARHGAP35, PTK6, RASA1
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| Breast tumor kinase phosphorylates p190RhoGAP to regulate rho and ras and promote breast carcinoma growth, migration, and invasion.
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| Shen CH, Chen HY, Lin MS, Li FY, Chang CC, Kuo ML, Settleman J, Chen RH.
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| Cancer Res 68(19):7779-87.PMID: 18829532 2008
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21 | CPLM, RASA1
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| RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.
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| Hershkovitz D, Bercovich D, Sprecher E, Lapidot M.
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| Br J Dermatol 158(5):1035-40. Epub 2008 Mar 20.PMID: 18363760 2008
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22 | CPLM, RASA1
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| A novel mutation in RASA1 causes capillary malformation and limb enlargement.
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| Hershkovitz D, Bergman R, Sprecher E.
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| Arch Dermatol Res 300(7):385-8. Epub 2008 Mar 8.
2008
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23 | ARHGAP35, RASA1
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| Integrin signaling through Arg activates p190RhoGAP by promoting its binding to p120RasGAP and recruitment to the membrane.
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| Bradley WD, Hernández SE, Settleman J, Koleske AJ.
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| Mol Biol Cell 17(11):4827-36. Epub 2006 Sep 13.PMID: 16971514 2006
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24 | RASA1, CPLM, NFFM
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| RASA1: variable phenotype with capillary and arteriovenous malformations.
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| Boon LM, Mulliken JB, Vikkula M.
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| Curr Opin Genet Dev 15(3):265-9. Review. 2005
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25 | RASA1, DAB2IP
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| Identification of a novel RAS GTPase-activating protein (RASGAP) gene at 9q34 as an MLL fusion partner in a patient with de novo acute myeloid leukemia.
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| von Bergh AR, Wijers PM, Groot AJ, van Zelderen-Bhola S, Falkenburg JH, Kluin PM, Schuuring E.
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| Genes Chromosomes Cancer 39(4):324-34. 2004
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26 | CPLM, RASA1, NFFM
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| Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
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| Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M.
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| Am J Hum Genet 73(6):1240-9. Epub 2003 Nov 24. 2003
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27 | CPLM, RASA1, NFFM
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| Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.
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| Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B.
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| J Med Genet 40(11):849-53. No abstract available. 2003
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28 | RASA1
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| Organization and regulation of the human rasGAP gene.
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| Glanzer JG, Liao L, Baker T, McMullen MH, Langan AS, Crandall LZ, Vorce RL.
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| Gene 285(1-2):149-56. 2002
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29 | RACK1, RASA1
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| RACK1, a protein kinase C scaffolding protein, interacts with the PH domain of p120GAP.
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| Koehler JA, Moran MF.
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| Biochem Biophys Res Commun 283(4):888-95. 2001
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30 | RASA1, RASA2
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| Use of an alternate splice donor site in the human GAP gene is responsible for synthesis of the p100 isoform.
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| Liao L, et al.
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| Gene 184 : 39-43. 1997
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31 | RASA1
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| Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.
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| Friedman E, et al.
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| Nat Genet 5 : 242-247. 1993
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32 | RASA1
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| Chromosomal localization of the gene encoding GTPase-activating protein (RASA) to human chromosome 5, bands q13-q15.
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| Lemons RS, et al.
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| Genomics 6 : 383-385. 1990
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33 | RASA1
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| The gene for GTPase activating protein (GAP) is on human chromosome 5q and mouse chromosome 13.
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| Hsieh CL, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1016. 1989
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34 | RASA1
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| Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP).
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| Hsieh CL, Vogel US, Dixon RA, Francke U.
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| Somat Cell Mol Genet 15 : 579-590. 1989
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