메뉴 건너뛰기




Volumn 126, Issue 3, 2016, Pages 948-961

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

(23)  Kuang, Shao Qing a   Medina Martinez, Olga b   Guo, Dong Chuan a   Gong, Limin a   Regalado, Ellen S a   Reynolds, Corey L c   Boileau, Catherine d   Jondeau, Guillaume d   Prakash, Siddharth K a   Kwartler, Callie S a   Zhu, Lawrence Yang e   Peters, Andrew M a   Duan, Xue Yan a   Bamshad, Michael J f   Shendure, Jay f   Nickerson, Debbie A f   Santos Cortez, Regie L c   Dong, Xiurong f   Leal, Suzanne M a   Majesky, Mark W a   more..


Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1A; FORKHEAD TRANSCRIPTION FACTOR; FORKHEAD TRANSCRIPTION FACTOR FOXE3; GELATINASE A; GELATINASE B; HISTONE H3; MESSENGER RNA; PROTEIN P53; UNCLASSIFIED DRUG; FOXE3 PROTEIN, HUMAN;

EID: 84959904216     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI83778     Document Type: Article
Times cited : (84)

References (40)
  • 1
    • 33746374311 scopus 로고    scopus 로고
    • Elastic fibres and vascular structure in hypertension
    • Arribas SM, Hinek A, González MC. Elastic fibres and vascular structure in hypertension. Pharmacol Ther. 2006;111(3):771-791.
    • (2006) Pharmacol Ther , vol.111 , Issue.3 , pp. 771-791
    • Arribas, S.M.1    Hinek, A.2    González, M.C.3
  • 3
    • 34249289023 scopus 로고    scopus 로고
    • Developmental basis of vascular smooth muscle diversity
    • Majesky MW. Developmental basis of vascular smooth muscle diversity. Arterioscler Thromb Vasc Biol. 2007;27(6):1248-1258.
    • (2007) Arterioscler Thromb Vasc Biol , vol.27 , Issue.6 , pp. 1248-1258
    • Majesky, M.W.1
  • 4
    • 49949107971 scopus 로고    scopus 로고
    • Developmental origin of smooth muscle cells in the descenDing aorta in mice
    • Wasteson P, et al. Developmental origin of smooth muscle cells in the descenDing aorta in mice. Development. 2008;135(10):1823-1832.
    • (2008) Development , vol.135 , Issue.10 , pp. 1823-1832
    • Wasteson, P.1
  • 5
    • 52949141431 scopus 로고    scopus 로고
    • Genetic basis of thoracic aortic aneurysms and dissections: Focus on smooth muscle cell contractile dysfunction
    • Milewicz DM, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 283-302
    • Milewicz, D.M.1
  • 7
    • 77950923685 scopus 로고    scopus 로고
    • 2010 ACCF/AHA/aats/ acr/asa/sca/scai/sir/sts/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: A report of the American college of cardiology foundation/ American Heart Association task force on practice guidelines, American association for thoracic surgery
    • American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine
    • Hiratzka LF, et al. 2010 ACCF/AHA/AATS/ ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010;121(13):e266-e369.
    • (2010) Circulation , vol.121 , Issue.13 , pp. e266-e369
    • Hiratzka, L.F.1
  • 8
    • 84881662678 scopus 로고    scopus 로고
    • Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections
    • Guo DC, et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013;93(2):398-404.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 398-404
    • Guo, D.C.1
  • 9
    • 84891905048 scopus 로고    scopus 로고
    • Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections
    • Milewicz DM, Regalado ES, Shendure J, Nickerson DA, Guo DC. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends Cardiovasc Med. 2014;24(2):53-60.
    • (2014) Trends Cardiovasc Med , vol.24 , Issue.2 , pp. 53-60
    • Milewicz, D.M.1    Regalado, E.S.2    Shendure, J.3    Nickerson, D.A.4    Guo, D.C.5
  • 10
    • 84655166565 scopus 로고    scopus 로고
    • A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice
    • Wada K, et al. A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice. Mamm Genome. 2011;22(11-12):693-702.
    • (2011) Mamm Genome , vol.22 , Issue.11-12 , pp. 693-702
    • Wada, K.1
  • 11
    • 34248545442 scopus 로고    scopus 로고
    • Foxe view of lens development and disease
    • Medina-Martinez O, Jamrich M. Foxe view of lens development and disease. Development. 2007;134(8):1455-1463.
    • (2007) Development , vol.134 , Issue.8 , pp. 1455-1463
    • Medina-Martinez, O.1    Jamrich, M.2
  • 13
    • 33750010634 scopus 로고    scopus 로고
    • Zebrafish foxe3: Roles in ocular lens morphogenesis through interaction with pitx3
    • Shi X, et al. Zebrafish foxe3: roles in ocular lens morphogenesis through interaction with pitx3. Mech Dev. 2006;123(10):761-782.
    • (2006) Mech Dev , vol.123 , Issue.10 , pp. 761-782
    • Shi, X.1
  • 14
    • 29644439510 scopus 로고    scopus 로고
    • Cellular and molecular analyses of vascular tube and lumen formation in zebrafish
    • Jin SW, Beis D, Mitchell T, Chen JN, Stainier DY. Cellular and molecular analyses of vascular tube and lumen formation in zebrafish. Development. 2005;132(23):5199-5209.
    • (2005) Development , vol.132 , Issue.23 , pp. 5199-5209
    • Jin, S.W.1    Beis, D.2    Mitchell, T.3    Chen, J.N.4    Stainier, D.Y.5
  • 15
    • 42049089519 scopus 로고    scopus 로고
    • Wnt3a regulates the development of cardiac neural crest cells by modulating expression of cysteine-rich intestinal protein 2 in rhombomere 6
    • Sun X, Zhang R, Lin X, Xu X. Wnt3a regulates the development of cardiac neural crest cells by modulating expression of cysteine-rich intestinal protein 2 in rhombomere 6. Circ Res. 2008;102(7):831-839.
    • (2008) Circ Res , vol.102 , Issue.7 , pp. 831-839
    • Sun, X.1    Zhang, R.2    Lin, X.3    Xu, X.4
  • 16
    • 0034650544 scopus 로고    scopus 로고
    • A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle
    • Blixt A, et al. A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle. Genes Dev. 2000;14(2):245-254.
    • (2000) Genes Dev , vol.14 , Issue.2 , pp. 245-254
    • Blixt, A.1
  • 17
    • 0033900034 scopus 로고    scopus 로고
    • Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the splotch (Sp(2H))/Pax3 mouse mutant
    • Conway SJ, Bundy J, Chen J, Dickman E, Rogers R, Will BM. Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the splotch (Sp(2H))/Pax3 mouse mutant. Cardiovasc Res. 2000;47(2):314-328.
    • (2000) Cardiovasc Res , vol.47 , Issue.2 , pp. 314-328
    • Conway, S.J.1    Bundy, J.2    Chen, J.3    Dickman, E.4    Rogers, R.5    Will, B.M.6
  • 18
    • 19944430728 scopus 로고    scopus 로고
    • Roles of forkhead transcription factor Foxc2 (MFH-1) and endothelin receptor A in cardiovascular morphogenesis
    • Kanzaki-Kato N, et al. Roles of forkhead transcription factor Foxc2 (MFH-1) and endothelin receptor A in cardiovascular morphogenesis. Cardiovasc Res. 2005;65(3):711-718.
    • (2005) Cardiovasc Res , vol.65 , Issue.3 , pp. 711-718
    • Kanzaki-Kato, N.1
  • 19
    • 84859469406 scopus 로고    scopus 로고
    • Endothelial expression of hypoxiainducible factor 1 protects the murine heart and aorta from pressure overload by suppression of TGF-signaling
    • Wei H, et al. Endothelial expression of hypoxiainducible factor 1 protects the murine heart and aorta from pressure overload by suppression of TGF-signaling. Proc Natl Acad Sci U S A. 2012;109(19):E841-E850.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , Issue.19 , pp. E841-E850
    • Wei, H.1
  • 20
    • 84883270912 scopus 로고    scopus 로고
    • Aortic remodeling after Transverse aortic constriction in mice is attenuated with AT1 receptor blockade
    • Kuang SQ, et al. Aortic remodeling after Transverse aortic constriction in mice is attenuated with AT1 receptor blockade. Arterioscler Thromb Vasc Biol. 2013;33(9):2172-2179.
    • (2013) Arterioscler Thromb Vasc Biol , vol.33 , Issue.9 , pp. 2172-2179
    • Kuang, S.Q.1
  • 21
    • 84871727742 scopus 로고    scopus 로고
    • Loss of CDKN2B promotes p53-dependent smooth muscle cell apoptosis and aneurysm formation
    • Leeper NJ, et al. Loss of CDKN2B promotes p53-dependent smooth muscle cell apoptosis and aneurysm formation. Arterioscler Thromb Vasc Biol. 2013;33(1):e1-e10.
    • (2013) Arterioscler Thromb Vasc Biol , vol.33 , Issue.1 , pp. e1-e10
    • Leeper, N.J.1
  • 22
    • 0034674712 scopus 로고    scopus 로고
    • The gut-enriched Kruppel-like factor (Kruppel-like factor 4) mediates the transactivating effect of p53 on the p21WAF1/Cip1 promoter
    • Zhang W, et al. The gut-enriched Kruppel-like factor (Kruppel-like factor 4) mediates the transactivating effect of p53 on the p21WAF1/Cip1 promoter. J Biol Chem. 2000;275(24):18391-18398.
    • (2000) J Biol Chem , vol.275 , Issue.24 , pp. 18391-18398
    • Zhang, W.1
  • 23
    • 48249113711 scopus 로고    scopus 로고
    • Conditional deletion of Kruppel-like factor 4 delays downregulation of smooth muscle cell differentiation markers but accelerates neointimal formation following vascular injury
    • Yoshida T, Kaestner KH, Owens GK. Conditional deletion of Kruppel-like factor 4 delays downregulation of smooth muscle cell differentiation markers but accelerates neointimal formation following vascular injury. Circ Res. 2008;102(12):1548-1557.
    • (2008) Circ Res , vol.102 , Issue.12 , pp. 1548-1557
    • Yoshida, T.1    Kaestner, K.H.2    Owens, G.K.3
  • 24
    • 77649219694 scopus 로고    scopus 로고
    • FOXE3 plays a significant role in autosomal recessive microphthalmia
    • Reis LM, et al. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A. 2010;152A(3):582-590.
    • (2010) Am J Med Genet A , vol.152 A , Issue.3 , pp. 582-590
    • Reis, L.M.1
  • 25
    • 0035253581 scopus 로고    scopus 로고
    • Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
    • Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet. 2001;10(3):231-236.
    • (2001) Hum Mol Genet , vol.10 , Issue.3 , pp. 231-236
    • Semina, E.V.1    Brownell, I.2    Mintz-Hittner, H.A.3    Murray, J.C.4    Jamrich, M.5
  • 26
    • 0033897180 scopus 로고    scopus 로고
    • Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation
    • Brownell I, Dirksen M, Jamrich M. Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation. Genesis. 2000;27(2):81-93.
    • (2000) Genesis , vol.27 , Issue.2 , pp. 81-93
    • Brownell, I.1    Dirksen, M.2    Jamrich, M.3
  • 27
    • 0035092384 scopus 로고    scopus 로고
    • Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1
    • Saleem RA, Banerjee-Basu S, Berry FB, Baxevanis AD, Walter MA. Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1. Am J Hum Genet. 2001;68(3):627-641.
    • (2001) Am J Hum Genet , vol.68 , Issue.3 , pp. 627-641
    • Saleem, R.A.1    Banerjee-Basu, S.2    Berry, F.B.3    Baxevanis, A.D.4    Walter, M.A.5
  • 28
    • 84908627885 scopus 로고    scopus 로고
    • Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease
    • French CR, et al. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest. 2014;124(11):4877-4881.
    • (2014) J Clin Invest , vol.124 , Issue.11 , pp. 4877-4881
    • French, C.R.1
  • 30
    • 33644583300 scopus 로고    scopus 로고
    • Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascenDing thoracic aortic aneurysms and dissections
    • He R, et al. Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascenDing thoracic aortic aneurysms and dissections. J Thorac Cardiovasc Surg. 2006;131(3):671-678.
    • (2006) J Thorac Cardiovasc Surg , vol.131 , Issue.3 , pp. 671-678
    • He, R.1
  • 31
    • 48249133229 scopus 로고    scopus 로고
    • Chronic apoptosis of vascular smooth muscle cells accelerates atherosclerosis and promotes calcification and medial degeneration
    • Clarke MC, et al. Chronic apoptosis of vascular smooth muscle cells accelerates atherosclerosis and promotes calcification and medial degeneration. Circ Res. 2008;102(12):1529-1538.
    • (2008) Circ Res , vol.102 , Issue.12 , pp. 1529-1538
    • Clarke, M.C.1
  • 32
    • 33645672459 scopus 로고    scopus 로고
    • Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
    • Habashi JP, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312(5770):117-121.
    • (2006) Science , vol.312 , Issue.5770 , pp. 117-121
    • Habashi, J.P.1
  • 33
    • 84920276864 scopus 로고    scopus 로고
    • Enhanced caspase activity contributes to aortic wall remodeling and early aneurysm development in a murine model of Marfan syndrome
    • Emrich FC, et al. Enhanced caspase activity contributes to aortic wall remodeling and early aneurysm development in a murine model of Marfan syndrome. Arterioscler Thromb Vasc Biol. 2015;35(1):146-154.
    • (2015) Arterioscler Thromb Vasc Biol , vol.35 , Issue.1 , pp. 146-154
    • Emrich, F.C.1
  • 34
    • 0033543728 scopus 로고    scopus 로고
    • A chemical inhibitor of p53 that protects mice from the side effects of cancer therapy
    • Komarov PG, et al. A chemical inhibitor of p53 that protects mice from the side effects of cancer therapy. Science. 1999;285(5434):1733-1737.
    • (1999) Science , vol.285 , Issue.5434 , pp. 1733-1737
    • Komarov, P.G.1
  • 35
    • 67349154398 scopus 로고    scopus 로고
    • Pifithrin-protects against DNA damage-induced apoptosis downstream of mitochondria independent of p53
    • Sohn D, Graupner V, Neise D, Essmann F, Schulze-Osthoff K, Jänicke RU. Pifithrin-protects against DNA damage-induced apoptosis downstream of mitochondria independent of p53. Cell Death Differ. 2009;16(6):869-878.
    • (2009) Cell Death Differ , vol.16 , Issue.6 , pp. 869-878
    • Sohn, D.1    Graupner, V.2    Neise, D.3    Essmann, F.4    Schulze-Osthoff, K.5    Jänicke, R.U.6
  • 36
    • 65149088429 scopus 로고    scopus 로고
    • Mutations in smooth muscle actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease
    • Guo DC, et al. Mutations in smooth muscle actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009;84(5):617-627.
    • (2009) Am J Hum Genet , vol.84 , Issue.5 , pp. 617-627
    • Guo, D.C.1
  • 37
    • 80052584397 scopus 로고    scopus 로고
    • Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
    • Regalado ES, et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011;109(6):680-686.
    • (2011) Circ Res , vol.109 , Issue.6 , pp. 680-686
    • Regalado, E.S.1
  • 39
    • 77950591484 scopus 로고    scopus 로고
    • Aberrant DNA methylation and epigenetic inactivation of Eph receptor tyrosine kinases and ephrin ligands in acute lymphoblastic leukemia
    • Kuang SQ, et al. Aberrant DNA methylation and epigenetic inactivation of Eph receptor tyrosine kinases and ephrin ligands in acute lymphoblastic leukemia. Blood. 2010;115(12):2412-2419.
    • (2010) Blood , vol.115 , Issue.12 , pp. 2412-2419
    • Kuang, S.Q.1
  • 40
    • 33646887766 scopus 로고    scopus 로고
    • Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers
    • Silberstein M, Tzemach A, Dovgolevsky N, Fishelson M, Schuster A, Geiger D. Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet. 2006;78(6):922-935.
    • (2006) Am J Hum Genet , vol.78 , Issue.6 , pp. 922-935
    • Silberstein, M.1    Tzemach, A.2    Dovgolevsky, N.3    Fishelson, M.4    Schuster, A.5    Geiger, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.