| 1 | ACVRL1, ENG, ORW1, ORW2
|
| Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
|
| Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA.
|
| Am J Hum Genet 105(5):894-906. doi: 10.1016/j.ajhg.2019.09.010. Epub 2019 Oct 17.
2019
|
| 2 | ACVRL1, TMEM100
|
| Essential role for TMEM100 in vascular integrity but limited contributions to the pathogenesis of hereditary haemorrhagic telangiectasia.
|
| Moon EH, Kim YS, Seo J, Lee S, Lee YJ, Oh SP.
|
| Cardiovasc Res 105(3):353-60. doi: 10.1093/cvr/cvu260. Epub 2014 Dec 23. 2015
|
| 3 | ACVRL1, NOTCH1
|
| A small molecule targeting ALK1 prevents Notch cooperativity and inhibits functional angiogenesis.
|
| Kerr G, Sheldon H, Chaikuad A, Alfano I, von Delft F, Bullock AN, Harris AL.
|
| Angiogenesis ngiogenesis. 2015 Jan 4. [Epub ahead of print]
2015
|
| 4 | ACVRL1, TGFBR1
|
| ALK5 and ALK1 play antagonistic roles in transforming growth factor β-induced podosome formation in aortic endothelial cells.
|
| Curado F, Spuul P, Egaña I, Rottiers P, Daubon T, Veillat V, Duhamel P, Leclercq A, Gontier E, Génot E.
|
| Mol Cell Biol 34(24):4389-403. doi: 10.1128/MCB.01026-14. Epub 2014 Sep 29.
2014
|
| 5 | ACVRL1
|
| De novo cerebrovascular malformation in the adult mouse after endothelial Alk1 deletion and angiogenic stimulation.
|
| Chen W, Sun Z, Han Z, Jun K, Camus M, Wankhede M, Mao L, Arnold T, Young WL, Su H.
|
| Stroke 45(3):900-2. doi: 10.1161/STROKEAHA.113.003655. Epub 2014 Jan 23.
2014
|
| 6 | ACVRL1, ENG, PPP2R2B, TGFBR2
|
| Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks.
|
| Xu G, Barrios-Rodiles M, Jerkic M, Turinsky AL, Nadon R, Vera S, Voulgaraki D, Wrana JL, Toporsian M, Letarte M.
|
| Mol Cell Proteomics 13(2):489-502. doi: 10.1074/mcp.M113.033464. Epub 2013 Dec 7.
2014
|
| 7 | ACVRL1, BMP10, GDF2
|
| Context-dependent signaling defines roles of BMP9 and BMP10 in embryonic and postnatal development.
|
| Chen H, Brady Ridgway J, Sai T, Lai J, Warming S, Chen H, Roose-Girma M, Zhang G, Shou W, Yan M.
|
| Proc Natl Acad Sci U S A 110(29):11887-92. doi: 10.1073/pnas.1306074110. Epub 2013 Jun 27.
2013
|
| 8 | ACVRL1, UBR5
|
| A functional genomic approach reveals the transcriptional role of EDD in the expression and function of angiogenesis regulator ACVRL1.
|
| Chen HW, Yang CC, Hsieh CL, Liu H, Lee SC, Tan BC.
|
| Biochim Biophys Acta 1829(12):1309-19. doi: 10.1016/j.bbagrm.2013.10.006. Epub 2013 Nov 2.
2013
|
| 9 | ACVRL1, GDF2
|
| Bone morphogenetic protein-9 inhibits lymphatic vessel formation via activin receptor-like kinase 1 during development and cancer progression.
|
| Yoshimatsu Y, Lee YG, Akatsu Y, Taguchi L, Suzuki HI, Cunha SI, Maruyama K, Suzuki Y, Yamazaki T, Katsura A, Oh SP, Zimmers TA, Lee SJ, Pietras K, Koh GY, Miyazono K, Watabe T.
|
| Proc Natl Acad Sci U S A 110(47):18940-5. doi: 10.1073/pnas.1310479110. Epub 2013 Oct 16.
2013
|
| 10 | ACVRL1, BMP10
|
| Circulating Bmp10 acts through endothelial Alk1 to mediate flow-dependent arterial quiescence.
|
| Laux DW, Young S, Donovan JP, Mansfield CJ, Upton PD, Roman BL.
|
| Development 140(16):3403-12. doi: 10.1242/dev.095307. Epub 2013 Jul 17.
2013
|
| 11 | ACVRL1
|
| The ALK-1/Smad1 pathway in cardiovascular physiopathology. A new target for therapy?
|
| González-Núñez M, Muñoz-Félix JM, López-Novoa JM.
|
| Biochim Biophys Acta 1832(10):1492-510. doi: 10.1016/j.bbadis.2013.05.016. Epub 2013 May 22. Review.
2013
|
| 12 | ACVRL1, ORW2
|
| Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
|
| Hume AN, John A, Akawi NA, Al-Awadhi AM, Al-Suwaidi SS, Al-Gazali L, Ali BR.
|
| Mol Cell Biochem 373(1-2):247-57. doi: 10.1007/s11010-012-1496-3. Epub 2012 Nov 4.
2013
|
| 13 | ACVRL1, EGFL7
|
| Gene expression profiling of placentae from women with early- and late-onset pre-eclampsia: down-regulation of the angiogenesis-related genes ACVRL1 and EGFL7 in early-onset disease.
|
| Junus K, Centlow M, Wikström AK, Larsson I, Hansson SR, Olovsson M.
|
| Mol Hum Reprod 18(3):146-55. doi: 10.1093/molehr/gar067. Epub 2011 Oct 19.
2012
|
| 14 | ACVRL1, BMP10, GDF2, TMEM100
|
| Tmem100, an ALK1 receptor signaling-dependent gene essential for arterial endothelium differentiation and vascular morphogenesis.
|
| Somekawa S, Imagawa K, Hayashi H, Sakabe M, Ioka T, Sato GE, Inada K, Iwamoto T, Mori T, Uemura S, Nakagawa O, Saito Y.
|
| Proc Natl Acad Sci U S A 109(30):12064-9. doi: 10.1073/pnas.1207210109. Epub 2012 Jul 10.
2012
|
| 15 | ACVRL1, BMPR1A, GDF2
|
| Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.
|
| Mahlawat P, Ilangovan U, Biswas T, Sun LZ, Hinck AP.
|
| Biochemistry 51(32):6328-41. Epub 2012 Aug 2.
2012
|
| 16 | ACVRL1, BMP10, GDF2
|
| Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.
|
| Townson SA, Martinez-Hackert E, Greppi C, Lowden P, Sako D, Liu J, Ucran JA, Liharska K, Underwood KW, Seehra J, Kumar R, Grinberg AV.
|
| J Biol Chem 287(33):27313-25. doi: 10.1074/jbc.M112.377960. Epub 2012 Jun 20.
2012
|
| 17 | ACVRL1, NOTCH1
|
| ALK1 signaling inhibits angiogenesis by cooperating with the Notch pathway.
|
| Larrivée B, Prahst C, Gordon E, del Toro R, Mathivet T, Duarte A, Simons M, Eichmann A.
|
| Dev Cell 22(3):489-500. doi: 10.1016/j.devcel.2012.02.005.
2012
|
| 18 | ACVRL1, TGFBR1
|
| Differential signalling through ALK-1 and ALK-5 regulates leptin expression in mesenchymal stem cells.
|
| Zeddou M, Relic B, Malaise O, Charlier E, Desoroux A, Beguin Y, de Seny D, Malaise MG.
|
| Stem Cells Dev 21(11):1948-55. doi: 10.1089/scd.2011.0321. Epub 2011 Dec 23.
2012
|
| 19 | ACVRL1, ENG, ORW1, ORW2
|
| Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
|
| McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk J, Stevenson D, Gedge F, Bayrak-Toydemir P.
|
| Clin Genet 79(4):335-344. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.
2011
|
| 20 | ACVRL1
|
| Interaction between alk1 and blood flow in the development of arteriovenous malformations.
|
| Corti P, Young S, Chen CY, Patrick MJ, Rochon ER, Pekkan K, Roman BL.
|
| Development 138(8):1573-82. Epub 2011 Mar 9.
2011
|
| 21 | ACVRL1, BMPR2, GDF2
|
| Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells.
|
| Upton PD, Davies RJ, Trembath RC, Morrell NW.
|
| J Biol Chem 284(23):15794-804. Epub 2009 Apr 14.
2009
|
| 22 | ACVRL1, CSNK2B
|
| Casein kinase 2beta as a novel enhancer of activin-like receptor-1 signaling.
|
| Lee NY, Haney JC, Sogani J, Blobe GC.
|
| FASEB J 23(11):3712-21. Epub 2009 Jul 10.
2009
|
| 23 | ACVRL1, ORW2
|
| Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
|
| Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H; French-Italian HHT Network.
|
| Eur J Hum Genet 16(6):742-9. Epub 2008 Feb 20. 2008
|
| 24 | ACVRL1, BMP10, GDF2
|
| Bone morphogenetic protein-9 is a circulating vascular quiescence factor.
|
| David L, Mallet C, Keramidas M, Lamandé N, Gasc JM, Dupuis-Girod S, Plauchu H, Feige JJ, Bailly S.
|
| Circ Res 102(8):914-22. Epub 2008 Feb 28. 2008
|
| 25 | ACVRL1,ENG,ORW1,ORW2
|
| Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.
|
| 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.
|
| Hum Mol Genet 16(13):1515-33. Epub 2007 Apr 9. 2007
|
| 26 | ENG, ORW1, ACVRL1, ORW2
|
| Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
|
| Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C.
|
| J Hum Genet 52(10):820-9. Epub 2007 Sep 5. 2007
|
| 27 | ACVRL1, BMP10, GDF2
|
| Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells.
|
| David L, Mallet C, Mazerbourg S, Feige JJ, Bailly S.
|
| Blood 109(5):1953-61. Epub 2006 Oct 26.PMID: 17068149 2007
|
| 28 | ORW1, ORW2, ORW3, ENG, ACVRL1
|
| Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
|
| Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M.
|
| J Med Genet 43(9):722-8. Epub 2006 May 11. 2006
|
| 29 | ENG, ORW1, ORW2, ACVRL1, JPS, SMAD4
|
| Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
|
| Abdalla SA, Letarte M.
|
| J Med Genet 43(2):97-110. Epub 2005 May 6. 2006
|
| 30 | ENG, ACVRL1, ORW1, ORW2
|
| Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.
|
| Wehner LE, Folz BJ, Argyriou L, Twelkemeyer S, Teske U, Geisthoff UW, Werner JA, Engel W, Nayernia K.
|
| Clin Genet 69(3):239-45. 2006
|
| 31 | ACVRL1, ENG, ORW2
|
| A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.
|
| Yan ZM, Fan ZP, Du J, Hua H, Xu YY, Wang SL.
|
| J Dent Res 85(8):705-10. 2006
|
| 32 | ACVRL1, ENG, ORW2
|
| Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.
|
| Argyriou L, Twelkemeyer S, Panchulidze I, Wehner LE, Teske U, Engel W, Nayernia K.
|
| Int J Mol Med 17(4):655-9. 2006
|
| 33 | ENG, ACVRL1, ORW1, ORW2, ORW5
|
| Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
|
| 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.
|
| Hum Mutat 27(6):598. 2006
|
| 34 | ORW1, ORW2, ACVRL1, ENG
|
| Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
|
| Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.
|
| Hum Genet 116(1-2):8-16. Epub 2004 Oct 23. 2005
|
| 35 | ACVRL1
|
| Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression.
|
| Sadick H, Riedel F, Naim R, Goessler U, Hormann K, Hafner M, Lux A.
|
| Haematologica 90(6):818-28. 2005
|
| 36 | ACVRL1, ORW2, ENG, ORW1
|
| Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.
|
| Brusgaard K, Kjeldsen AD, Poulsen L, Moss H, Vase P, Rasmussen K, Kruse TA, Horder M.
|
| Clin Genet 66(6):556-61. 2004
|
| 37 | ACVRL1, CCM1, ENG, KRIT1
|
| Vascular morphogenesis: tales of two syndromes.
|
| Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS.
|
| Hum Mol Genet 12(Suppl 1):R97-R112. 2003
|
| 38 | ACVRL1, ORW2
|
| Disease-associated mutations in conserved residues of ALK-1 kinase domain.
|
| Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M.
|
| Eur J Hum Genet 11(4):279-87. 2003
|
| 39 | ACVRL1, ORW2
|
| Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
|
| Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Laitinen T, Morrell NW, Trembath RC, Halme M, Raisanen-Sokolowski A.
|
| J Med Genet 40(12):865-71. 2003
|
| 40 | ACVRL1, NR1H2
|
| Regulation of ALK-1 signaling by the nuclear receptor LXRbeta.
|
| Mo J, Fang SJ, Chen W, Blobe GC.
|
| J Biol Chem 277(52):50788-94. 2002
|
| 41 | ACVRL1, ORW2
|
| Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.
|
| Kjeldsen AD, Brusgaard K, Poulsen L, Kruse T, Rasmussen K, Green A, Vase P.
|
| Am J Med Genet 98(4):298-302. 2001
|
| 42 | ACVRL1, ORW2
|
| Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
|
| Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L.
|
| N Engl J Med 345(5):325-34. 2001
|
| 43 | ACVRL1, ORW2
|
| Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
|
| Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M.
|
| Hum Mol Genet 9(8):1227-37. 2000
|
| 44 | ACVRL1, TGFB1
|
| Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis.
|
| Oh SP, Seki T, Goss KA, Imamura T, Yi Y, Donahoe PK, Li L, Miyazono K, ten Dijke P, Kim S, Li E.
|
| Proc Natl Acad Sci U S A 97(6):2626-31. 2000
|
| 45 | ACVRL1, ENG, ORW1, ORW2
|
| Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1.
|
| Lux A, et al.
|
| J Biol Chem 274(15):9984-92. 1999
|
| 46 | ACVR1, ACVR1B, ACVRL1
|
| Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors.
|
| Ršijer E, et al.
|
| Mamm Genome 9 : 266-268. 1998
|
| 47 | ACVRL1
|
| Genetic abnormalities in hereditary hemorrhagic telangiectasia.
|
| Marchuk DA.
|
| Curr Opin Hematol 5(5):332-8. Review. 1998
|
| 48 | ACVRL1, ORW2
|
| The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
|
| Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA.
|
| Am J Hum Genet 61(1):60-7. 1997
|
| 49 | ACVRL1, TGFBR1
|
| Cloning and genomic organization of the human transforming growth factor-beta type I receptor gene.
|
| Vellucci VF, Reiss M.
|
| Genomics 46(2):278-83. 1997
|
| 50 | ACVRL1
|
| Expression of ALK-1, a type 1 serine/threonine kinase receptor, coincides with sites of vasculogenesis and angiogenesis in early mouse development.
|
| Roelen BA, van Rooijen MA, Mummery CL.
|
| Dev Dyn 209(4):418-30. 1997
|
| 51 | ACVRL1, ORW2
|
| Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
|
| Johnson DW, et al.
|
| Nat Genet 13 : 189-195. 1996
|
| 52 | ACVRL1, ACVR1B
|
| Mapping of two human genes encoding atcivin receptor-like kinases (ALK1 and 4) to 12q11-q14. (abstr)
|
| Stenman G, et al.
|
| Cytogenet Cell Genet 67 : 274. 1994
|
| 53 | ACVR1, ACVR1B, ACVRL1, BMPR1A, BMPR1B, TGFBR1
|
| Activin receptor-like kinases : a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.
|
| ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K.
|
| Oncogene 8 : 2879-2887. 1993
|