Page 82 - GPD-2-2

Gene & Protein in Disease Genetics of arteriovenous malformations

80. Pawlikowska L, Tran MN, Achrol AS, et al., 2004, Bevacizumab reverses need for liver transplantation in
Polymorphisms in genes involved in inflammatory hereditary hemorrhagic telangiectasia. Liver Transpl, 14(2):
and angiogenic pathways and the risk of hemorrhagic 210–213.
presentation of brain arteriovenous malformations. Stroke, https://doi.org/10.1002/lt.21417
35(10): 2294–2300.
91. Dupuis-Girod S, Ginon I, Saurin JC, et al., 2012, Bevacizumab
https://doi.org/10.1161/01.STR.0000141932.44613.b1 in patients with hereditary hemorrhagic telangiectasia and
81. Chen Y, Pawlikowska L, Yao JS, et al., 2006, Interleukin-6 severe hepatic vascular malformations and high cardiac
involvement in brain arteriovenous malformations. Ann output. JAMA, 307(9):648–955.
Neurol, 59(1): 72–80. https://doi.org/10.1001/jama.2012.250
https://doi.org/10.1002/ana.20697 92. Jabbour MN, Elder JB, Samuelson CG, et al., 2009, Aberrant
82. Pawlikowska L, Poon KYT, Achrol AS, et al., 2006, angiogenic characteristics of human brain arteriovenous
Apolipoprotein E ε2 is associated with new hemorrhage risk malformation endothelial cells. Neurosurgery, 64(1): 139–148.
in brain arteriovenous malformations. Neurosurgery, 58(5): https://doi.org/10.1227/01.NEU.0000334417.56742.24
838–843.
93. Zhu W, Shen F, Mao L, et al., 2017, Soluble FLT1 gene therapy
https://doi.org/10.1227/01.NEU.0000209605.18358.E5 alleviates brain arteriovenous malformation severity. Stroke,
83. Nishino K, Ito Y, Sorimachi T, et al., 2010, Sturge-Weber 48(5): 1420–1423.
syndrome associated with arteriovenous malformation in https://doi.org/10.1161/STROKEAHA.116.015713
a patient presenting with progressive brain edema and cyst
formation. J Neurosurg Pediatr, 5(5): 529–534. 94. Crist AM, Zhou X, Garai J, et al., 2019, Angiopoietin-2
inhibition rescues arteriovenous malformation in a Smad4
https://doi.org/10.3171/2010.1.PEDS09140 hereditary hemorrhagic telangiectasia mouse model.
84. Higueros E, Roe E, Granell E, et al., 2017, Sturge-Weber Circulation, 139(17): 2049–2063.
syndrome: A review. Actas Dermosifiliogr, 108(5): 407–417. https://doi.org/10.1161/CIRCULATIONAHA.118.036952
https://doi.org/10.1016/j.adengl.2017.03.034 95. Ola R, Dubrac A, Han J, et al., 2016, PI3 kinase inhibition
85. Yeom S, Comi AM, 2022, Updates on Sturge-Weber improves vascular malformations in mouse models of
syndrome. Stroke, 53(12):3769–3779. hereditary haemorrhagic telangiectasia. Nat Commun, 7(1):
13650.
https://doi.org/10.1161/STROKEAHA.122.038585
https://doi.org/10.1038/ncomms13650
86. Fukushima T, Hamano K, Shin K, et al., 1989, A case of
multiple arteriovenous malformations and diffuse venous 96. Amyere M, Revencu N, Helaers R, et al., 2017, Germline
abnormalities with facial port-wine stain. Childs Nerv Syst, loss-of-function mutations in EPHB4 cause a second form
5(2): 114–117. of capillary malformation-arteriovenous malformation
(CM-AVM2) deregulating RAS-MAPK signaling.
https://doi.org/10.1007/BF00571122 Circulation, 136(11): 1037–1048.
87. Laufer L, Cohen A, 1994, Sturge-Weber syndrome associated https://doi.org/10.1161/CIRCULATIONAHA.116.026886
with a large left hemispheric arteriovenous malformation.
Pediatr Radiol, 24(4): 272–273. 97. McAllister KA, Grogg KM, Johnson DW, et al., 1994,
Endoglin, a TGF-β binding protein of endothelial cells, is
https://doi.org/10.1007/BF02015455 the gene for hereditary haemorrhagic telangiectasia Type 1.
88. Mizutani T, Tanaka H, Aruga T, 1992, Multiple arteriovenous Nat Genet, 8(4): 345–351.
malformations located in the cerebellum, posterior fossa, https://doi.org/10.1038/ng1294-345
spinal cord, dura, and scalp with associated port-wine stain
and supratentorial venous anomaly. Neurosurgery, 31(1): 98. Ruiz S, Chandakkar P, Zhao H, et al., 2017, Tacrolimus
137–140; discussion 140–141. rescues the signaling and gene expression signature of
endothelial ALK1 loss-of-function and improves HHT
https://doi.org/10.1227/00006123-199207000-00022 vascular pathology. Hum Mol Genet, 26(24): 4786–4798.
89. Flieger D, Hainke S, Fischbach W, 2006, Dramatic https://doi.org/10.1093/hmg/ddx358
improvement in hereditary hemorrhagic telangiectasia after 99. Ruiz S, Zhao H, Chandakkar P, et al., 2020, Correcting
treatment with the vascular endothelial growth factor (VEGF) Smad1/5/8, mTOR, and VEGFR2 treats pathology in
antagonist bevacizumab. Ann Hematol, 85(9): 631–632.
hereditary hemorrhagic telangiectasia models. J Clin Invest,
https://doi.org/10.1007/s00277-006-0147-8 130(2): 942–957.
90. Mitchell A, Adams LA, MacQuillan G, et al., 2008, https://doi.org/10.1172/JCI127425

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