| 1 | ACVRL1, ENG, ORW1, ORW2
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| Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
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| Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA.
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| Am J Hum Genet 105(5):894-906. doi: 10.1016/j.ajhg.2019.09.010. Epub 2019 Oct 17.
2019
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| 2 | ENG
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| CD105 expression in oral capillary hemangiomas and cavernous hemangiomas.
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| Matsumoto N, Tsuchiya M, Nomoto S, Matsue Y, Nishikawa Y, Takamura T, Oki H, Komiyama K.
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| J Oral Sci 57(1):45-53. doi: 10.2334/josnusd.57.45.
2015
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| 3 | ENG, SMAD2
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| Endoglin Regulation of Smad2 Function Mediates Beclin1 Expression and Endothelial Autophagy.
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| Pan CC, Kumar S, Shah N, Bloodworth JC, Hawinkels LJ, Mythreye K, Hoyt DG, Lee NY.
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| J Biol Chem 290(24):14884-92. doi: 10.1074/jbc.M114.630178. Epub 2015 Apr 30.
2015
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| 4 | ACVRL1, ENG, PPP2R2B, TGFBR2
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| Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks.
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| Xu G, Barrios-Rodiles M, Jerkic M, Turinsky AL, Nadon R, Vera S, Voulgaraki D, Wrana JL, Toporsian M, Letarte M.
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| Mol Cell Proteomics 13(2):489-502. doi: 10.1074/mcp.M113.033464. Epub 2013 Dec 7.
2014
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| 5 | ENG
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| ENDOGLIN is dispensable for vasculogenesis, but required for vascular endothelial growth factor-induced angiogenesis.
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| Liu Z, Lebrin F, Maring JA, van den Driesche S, van der Brink S, van Dinther M, Thorikay M, Martin S, Kobayashi K, Hawinkels LJ, van Meeteren LA, Pardali E, Korving J, Letarte M, Arthur HM, Theuer C, Goumans MJ, Mummery C, ten Dijke P.
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| PLoS One 9(1):e86273. doi: 10.1371/journal.pone.0086273. eCollection 2014.
2014
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| 6 | ENG
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| Endoglin regulates the activation and quiescence of endothelium by participating in canonical and non-canonical TGF-β signaling pathways.
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| Park S, Dimaio TA, Liu W, Wang S, Sorenson CM, Sheibani N.
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| J Cell Sci 126(Pt 6):1392-405. doi: 10.1242/jcs.117275. Epub 2013 Feb 15.
2013
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| 7 | ENG
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| Endothelial endoglin is involved in inflammation: role in leukocyte adhesion and transmigration.
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| Rossi E, Sanz-Rodriguez F, Eleno N, Düwell A, Blanco FJ, Langa C, Botella LM, Cabañas C, Lopez-Novoa JM, Bernabeu C.
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| Blood 121(2):403-15. doi: 10.1182/blood-2012-06-435347. Epub 2012 Oct 16.
2013
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| 8 | DEL9QO, ENG, SPTAN1, STXBP1, TOR1A
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| Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
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| Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F.
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| Genet Med 14(10):868-76. doi: 10.1038/gim.2012.65. Epub 2012 Jun 21.
2012
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| 9 | ENG, GIPC1
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| Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis.
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| Lee NY, Golzio C, Gatza CE, Sharma A, Katsanis N, Blobe GC.
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| Mol Biol Cell 23(13):2412-23. doi: 10.1091/mbc.E11-12-0993. Epub 2012 May 16.
2012
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| 10 | ENG
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| Effect of endoglin overexpression during embryoid body development.
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| Baik J, Borges L, Magli A, Thatava T, Perlingeiro RC.
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| Exp Hematol 40(10):837-46. doi: 10.1016/j.exphem.2012.06.007. Epub 2012 Jun 19.
2012
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| 11 | ACVRL1, ENG, ORW1, ORW2
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| Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
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| McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk J, Stevenson D, Gedge F, Bayrak-Toydemir P.
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| Clin Genet 79(4):335-344. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.
2011
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| 12 | ENG
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| CD105 (Endoglin) expression in breast carcinoma effusions is a marker of poor survival.
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| Davidson B, Stavnes HT, Førsund M, Berner A, Staff AC.
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| Breast 19(6):493-8. Epub 2010 Jun 17.PMID: 21078485 2010
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| 13 | ENG, FLT1, PGF
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| Circulating angiogenic and antiangiogenic factors in women with eclampsia.
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| Vaisbuch E, Whitty JE, Hassan SS, Romero R, Kusanovic JP, Cotton DB, Sorokin Y, Karumanchi SA.
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| Am J Obstet Gynecol m J Obstet Gynecol. 2010 Nov 8. [Epub ahead of print]PMID: 21062661 2010
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| 14 | ENG
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| Endoglin expression in breast tumor cells suppresses invasion and metastasis and correlates with improved clinical outcome.
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| Henry LA, Johnson DA, Sarrió D, Lee S, Quinlan PR, Crook T, Thompson AM, Reis-Filho JS, Isacke CM.
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| Oncogene ncogene. 2010 Nov 1. [Epub ahead of print]PMID: 21042283 2010
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| 15 | ENG
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| Endoglin-Targeted Cancer Therapy.
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| Seon BK, Haba A, Matsuno F, Takahashi N, Tsujie M, She X, Harada N, Uneda S, Tsujie T, Toi H, Tsai H, Haruta Y.
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| Curr Drug Deliv urr Drug Deliv. 2010 Nov 1. [Epub ahead of print]PMID: 21034418 2010
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| 16 | ENG
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| Endoglin suppresses human prostate cancer metastasis.
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| Lakshman M, Huang X, Ananthanarayanan V, Jovanovic B, Liu Y, Craft CS, Romero D, Vary CP, Bergan RC.
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| Clin Exp Metastasis lin Exp Metastasis. 2010 Oct 28. [Epub ahead of print]PMID: 20981476 2010
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| 17 | ENG
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| Critical role of endoglin in tumor cell plasticity of Ewing sarcoma and melanoma.
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| Pardali E, van der Schaft DW, Wiercinska E, Gorter A, Hogendoorn PC, Griffioen AW, Ten Dijke P.
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| Oncogene ncogene. 2010 Sep 20. [Epub ahead of print]PMID: 20856203 2010
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| 18 | ENG
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| Soluble endoglin for the prediction of preeclampsia in a high risk cohort.
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| Maynard SE, Moore Simas TA, Bur L, Crawford SL, Solitro MJ, Meyer BA.
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| Hypertens Pregnancy 29(3):330-41.PMID: 20670156 2010
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| 19 | ENG
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| Early regrowth of juvenile cerebral arteriovenous malformations: report of 3 cases and immunohistochemical analysis.
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| Takagi Y, Kikuta KI, Nozaki K, Hashimoto N.
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| Surg Neurol urg Neurol. 2009 Oct 12. [Epub ahead of print]PMID: 19828180 2009
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| 20 | ENG
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| Endoglin plays distinct roles in vascular smooth muscle cell recruitment and regulation of arteriovenous identity during angiogenesis.
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| Mancini ML, Terzic A, Conley BA, Oxburgh LH, Nicola T, Vary CP.
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| Dev Dyn 238(10):2479-93.PMID: 19705428 2009
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| 21 | ENG
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| Soluble endoglin modulates aberrant cerebral vascular remodeling.
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| Chen Y, Hao Q, Kim H, Su H, Letarte M, Karumanchi SA, Lawton MT, Barbaro NM, Yang GY, Young WL.
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| Ann Neurol 66(1):19-27.PMID: 19670444 2009
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| 22 | ENG
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| Structural and functional characterization of soluble endoglin receptor.
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| Van Le B, Franke D, Svergun DI, Han T, Hwang HY, Kim KK.
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| Biochem Biophys Res Commun 383(4):386-91. Epub 2009 Mar 5.PMID: 19268655 2009
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| 23 | BMPR1A, ENG, JPS, JPS2, JPS3, JPS4, PTEN, SMAD4
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| Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
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| van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ.
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| Gut 57(5):623-7. Epub 2008 Jan 4.
2008
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| 24 | ENG
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| Identification of serum endoglin as a novel prognostic marker after acute myocardial infarction.
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| Cruz-Gonzalez I, Pabón P, Rodríguez-Barbero A, Martín-Moreiras J, Pericacho M, Sánchez PL, Ramirez V, Sánchez-Ledesma M, Martín-Herrero F, Jiménez-Candil J, Maree AO, Sánchez-Rodríguez A, Martín-Luengo C, López-Novoa JM.
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| J Cell Mol Med 12(3):955-61.PMID: 18494936 2008
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| 25 | ENG, SMAD4, JPS4
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| ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.
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| Howe JR, Haidle JL, Lal G, Bair J, Song C, Pechman B, Chinnathambi S, Lynch HT.
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| Clin Genet 71(1):91-2. No abstract available. 2007
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| 26 | ACVRL1,ENG,ORW1,ORW2
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| Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.
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| Fernandez-Lopez A, Garrido-Martin EM, Sanz-Rodriguez F, Pericacho M, Rodriguez-Barbero A, Eleno N, Lopez-Novoa JM, Duwell A, Vega MA, Bernabeu C, Botella LM.
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| Hum Mol Genet 16(13):1515-33. Epub 2007 Apr 9. 2007
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| 27 | ENG, ORW1, ACVRL1, ORW2
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| Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
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| Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C.
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| J Hum Genet 52(10):820-9. Epub 2007 Sep 5. 2007
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| 28 | ORW1, ORW2, ORW3, ENG, ACVRL1
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| Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
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| Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M.
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| J Med Genet 43(9):722-8. Epub 2006 May 11. 2006
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| 29 | ENG, ORW1, ORW2, ACVRL1, JPS, SMAD4
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| Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
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| Abdalla SA, Letarte M.
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| J Med Genet 43(2):97-110. Epub 2005 May 6. 2006
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| 30 | ENG, ACVRL1, ORW1, ORW2
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| Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.
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| Wehner LE, Folz BJ, Argyriou L, Twelkemeyer S, Teske U, Geisthoff UW, Werner JA, Engel W, Nayernia K.
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| Clin Genet 69(3):239-45. 2006
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| 31 | ENG
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| Soluble endoglin contributes to the pathogenesis of preeclampsia.
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| Venkatesha S, Toporsian M, Lam C, Hanai JI, Mammoto T, Kim YM, Bdolah Y, Lim KH, Yuan HT, Libermann TA, Stillman IE, Roberts D, D'Amore PA, Epstein FH, Sellke FW, Romero R, Sukhatme VP, Letarte M, Karumanchi SA.
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| Nat Med 12(6):642-649. Epub 2006 Jun 4. 2006
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| 32 | ACVRL1, ENG, ORW2
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| A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.
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| Yan ZM, Fan ZP, Du J, Hua H, Xu YY, Wang SL.
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| J Dent Res 85(8):705-10. 2006
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| 33 | ACVRL1, ENG, ORW2
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| Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.
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| Argyriou L, Twelkemeyer S, Panchulidze I, Wehner LE, Teske U, Engel W, Nayernia K.
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| Int J Mol Med 17(4):655-9. 2006
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| 34 | ENG, ACVRL1, ORW1, ORW2, ORW5
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| Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
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| Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Riviere S, Goizet C, Faivre L, Plauchu H, Frebourg T, Calender A, Giraud S; French Rendu-Osler Network.
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| Hum Mutat 27(6):598. 2006
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| 35 | ORW1, ORW2, ACVRL1, ENG
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| Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
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| Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.
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| Hum Genet 116(1-2):8-16. Epub 2004 Oct 23. 2005
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| 36 | JPS, JPS2, JPS3, JPS4, ENG, DEL22Q11, DUP22Q11
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| Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
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| Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C.
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| JAMA 294(19):2465-73. 2005
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| 37 | ACVRL1, ORW2, ENG, ORW1
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| Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.
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| Brusgaard K, Kjeldsen AD, Poulsen L, Moss H, Vase P, Rasmussen K, Kruse TA, Horder M.
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| Clin Genet 66(6):556-61. 2004
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| 38 | TRIP6, ENG
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| Endoglin regulates cytoskeletal organization through binding to ZRP-1, a member of the Lim family of proteins.
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| Sanz-Rodriguez F, Guerrero-Esteo M, Botella LM, Banville D, Vary CP, Bernabeu C.
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| J Biol Chem 279(31):32858-68. Epub 2004 May 17. 2004
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| 39 | ACVRL1, CCM1, ENG, KRIT1
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| Vascular morphogenesis: tales of two syndromes.
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| Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS.
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| Hum Mol Genet 12(Suppl 1):R97-R112. 2003
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| 40 | ENG, ORW1
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| Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.
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| Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M.
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| Hum Mutat 21(5):482-92. 2003
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| 41 | ENG
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| Endoglin is expressed on human chondrocytes and forms a heteromeric complex with betaglycan in a ligand and type II TGFbeta receptor independent manner.
|
| Parker WL, Goldring MB, Philip A.
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| J Bone Miner Res 18(2):289-302. 2003
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| 42 | ENG, ORW1
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| Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.
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| Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr, Dunn J, Letarte M.
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| Pediatr Res 47(1):24-35. 2000
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| 43 | ENG, ORW1
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| Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.
|
| Lux A, Gallione CJ, Marchuk DA.
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| Hum Mol Genet 9(5):745-55. 2000
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| 44 | ACVRL1, ENG, ORW1, ORW2
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| Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1.
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| Lux A, et al.
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| J Biol Chem 274(15):9984-92. 1999
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| 45 | ENG, ORW1
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| Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
|
| Pece-Barbara N, et al.
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| Hum Mol Genet 8(12):2171-2181 1999
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| 46 | ENG, ORW1
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| Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
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| Gallione CJ, et al.
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| Hum Mutat 11 : 286-294. 1998
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| 47 | ENG, ORW1
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| Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1.
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| Rius C, et al.
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| Blood 92 : 4677-4690. 1998
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| 48 | ENG
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| Over-expression of endoglin (CD105) : a marker of breast carcinoma-induced neo-vascularization.
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| Bodey B, et al.
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| Anticancer Res 18 : 3621-3628. 1998
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| 49 | ENG
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| Endoglin gene polymorphism as a risk factor for sporadic intracerebral hemorrhage.
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| Alberts MJ, Davis JP, Graffagnino C, McClenny C, Delong D, Granger C, Herbstreith MH, Boteva K, Marchuk DA, Roses AD.
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| Ann Neurol 41(5):683-6. 1997
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| 50 | ENG, ORW1
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| Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.
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| Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG.
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| Am J Hum Genet 61(1):68-79. 1997
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| 51 | ENG, ORW1
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| Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.
|
| Pece N, Vera S, Cymerman U, White RI Jr, Wrana JL, Letarte M.
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| J Clin Invest 100(10):2568-79. 1997
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| 52 | ORW1, ENG
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| Clinical heterogeneity in hereditary haemorrhagic telangiectasia : are pulmonary arteriovenous malformations more common in families linked to endoglin?
|
| Berg JN, et al.
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| J Med Genet 33 : 256-257. 1996
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| 53 | ENG
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| Endoglin modulates cellular responses to TGF-beta 1.
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| Lastres P, et al.
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| J Cell Biol 133 : 1109-1121. 1996
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| 54 | ORW1, ENG
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| Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
|
| McAllister KA, et al.
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| Nat Genet 8 : 345-351. 1994
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| 55 | ENG
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| Assignment of the human endoglin gene (END) to 9q34-qter.
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| Fernandez-Ruiz E, et al.
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| Cytogenet Cell Genet 64 : 204-207. 1993
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| 56 | ENG
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| Endoglin is a component of the TGF-beta receptor system in human endothelial cells.
|
| Cheifetz S, et al.
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| J Biol Chem 267 : 19027-19030. 1992
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| 57 | ENG
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| Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells.
|
| Gougos A, Letarte M.
|
| J Biol Chem 265(15):8361-4. 1990
|