Page 80 - GPD-2-2
P. 80
Gene & Protein in Disease Genetics of arteriovenous malformations
https://doi.org/10.1038/s41467-019-08773-2 key step in angiogenesis. Circ Res, 101: 1237–1246.
37. Shoemaker LD, Fuentes LF, Santiago SM, et al., 2014, Human 48. Cobb MH, 1999, MAP kinase pathways. Prog Biophys Mol
brain arteriovenous malformations express lymphatic- Biol, 71(3–4): 479–500.
associated genes. Ann Clin Transl Neurol, 1(12): 982–995.
https://doi.org/10.1016/S0079-6107(98)00056-X
https://doi.org/10.1002/acn3.142
49. Fischer AM, Katayama CD, Pagès G, et al., 2005, The role
38. Winkler EA, Birk H, Burkhardt JK, et al., 2018, Reductions of Erk1 and Erk2 in multiple stages of T cell development.
in brain pericytes are associated with arteriovenous Immunity, 23(4): 431–443.
malformation vascular instability. J Neurosurg, 129(6): https://doi.org/10.1016/j.immuni.2005.08.013
1464–1474.
50. Couto JA, Huang AY, Konczyk DJ, et al., 2017, Somatic MAP2K1
https://doi.org/10.3171/2017.6.JNS17860
mutations are associated with extracranial arteriovenous
39. Scholz A, Plate KH, Reiss Y, 2015, Angiopoietin-2: malformation. Am J Hum Genet, 100(3): 546–554.
A multifaceted cytokine that functions in both angiogenesis https://doi.org/10.1016/j.ajhg.2017.01.018
and inflammation. Ann N Y Acad Sci, 1347(1): 45–51.
51. Smits PJ, Konczyk DJ, Sudduth CL, et al., 2020, Endothelial
https://doi.org/10.1111/nyas.12726
MAP2K1 mutations in arteriovenous malformation activate
40. Chen Y, Li Z, Shi Y, et al., 2018, Deep sequencing of the RAS/MAPK pathway. Biochem Biophys Res Commun,
small RNAs in blood of patients with brain arteriovenous 529(2): 450–454.
malformations. World Neurosurg, 115: e570–e579.
https://doi.org/10.1016/j.bbrc.2020.06.022
https://doi.org/10.1016/j.wneu.2018.04.097
52. Revencu N, Boon LM, Mendola A, et al., 2013, RASA1
41. Robert F, Desroches-Castan A, Bailly S, et al., 2020, Future mutations and associated phenotypes in 68 families with
treatments for hereditary hemorrhagic telangiectasia. capillary malformation-arteriovenous malformation. Hum
Orphanet J Rare Dis, 15(1): 4. Mutat, 34(12): 1632–1641.
https://doi.org/10.1186/s13023-019-1281-4 https://doi.org/10.1002/humu.22431
42. Hiltunen MO, Turunen MP, Häkkinen TP, et al., 2002, 53. Revencu N, Fastre E, Ravoet M, et al., 2020, RASA1
DNA hypomethylation and methyltransferase expression in mosaic mutations in patients with capillary malformation-
atherosclerotic lesions. Vasc Med Lond Engl, 7(1): 5–11. arteriovenous malformation. J Med Genet, 57(1): 48–52.
https://doi.org/10.1191/1358863x02vm418oa https://doi.org/10.1136/jmedgenet-2019-106024
43. Chan Y, Fish JE, D’Abreo C, et al., 2004, The cell-specific 54. Hongo H, Miyawaki S, Teranishi Y, et al., 2022, Genetics of
expression of endothelial nitric-oxide synthase: A role for brain arteriovenous malformations and cerebral cavernous
DNA methylation. J Biol Chem, 279(33): 35087–35100. malformations. J Hum Genet, 68: 157–167.
https://doi.org/10.1074/jbc.M405063200 https://doi.org/10.1038/s10038-022-01063-8
44. Rao X, Zhong J, Zhang S, et al., 2011, Loss of methyl- 55. Lapinski PE, Doosti A, Salato V, et al., 2018, Somatic second
CpG-binding domain protein 2 enhances endothelial hit mutation of RASA1 in vascular endothelial cells in
angiogenesis and protects mice against hind-limb ischemic capillary malformation-arteriovenous malformation. Eur J
injury. Circulation, 123(25): 2964–2974. Med Genetm, 61(1): 11–16.
https://doi.org/10.1161/CIRCULATIONAHA.110.966408 https://doi.org/10.1016/j.ejmg.2017.10.004
45. Jiang YZ, Manduchi E, Jiménez JM, et al., 2015, Endothelial 56. Wolf K, Hu H, Isaji T, et al., 2019, Molecular identity of
epigenetics in biomechanical stress: Disturbed flow- arteries, veins, and lymphatics. J Vasc Surg, 69(1): 253–262.
mediated epigenomic plasticity in vivo and in vitro. https://doi.org/10.1016/j.jvs.2018.06.195
Arterioscler Thromb Vasc Biol, 35(6): 1317–1326.
57. Himanen JP, 2012, Ectodomain structures of Eph receptors.
https://doi.org/10.1161/ATVBAHA.115.303427
Semin Cell Dev Biol, 23(1): 35–42.
46. Lee DY, Lee CI, Lin TE, et al., 2012, Role of histone
deacetylases in transcription factor regulation and cell cycle https://doi.org/10.1016/j.semcdb.2011.10.025
modulation in endothelial cells in response to disturbed 58. Eilken HM, Adams RH, 2010, Dynamics of endothelial cell
flow. Proc Natl Acad Sci U S A, 109(6): 1967–1972. behavior in sprouting angiogenesis. Curr Opin Cell Biol,
22(5): 617–625.
https://doi.org/10.1073/pnas.1121214109
https://doi.org/10.1016/j.ceb.2010.08.010
47. Mottet D, Bellahcène A, Pirotte S, et al., 2007, Histone
deacetylase 7 silencing alters endothelial cell migration, a 59. Choi EJ, Chen W, Jun K, et al., 2014, Novel brain
Volume 2 Issue 2 (2023) 14 https://doi.org/10.36922/gpd.0312

