메뉴 건너뛰기




Volumn 802, Issue , 2014, Pages 107-127

Connective tissue disorders and cardiovascular complications: The indomitable role of transforming growth factor-beta signaling

Author keywords

Curacao diagnostic criteria; Familial thoracic aortic aneurysm and dissection syndrome (FTAAD); Fibrodysplasia ossificans progressiva (FOP); Loeys Dietz syndrome (LDS); Marfan syndrome (MFS); Primary pulmonary hypertension; Shprintzen Goldberg syndrome, hereditary hemorrhagic telangiectasia (HHT); Smad; TGF receptor

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CAVEOLIN; CYTOKINE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; ENDOGLIN; FIBRILLIN 1; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LOSARTAN; MITOGEN ACTIVATED PROTEIN KINASE; SMAD ANCHOR FOR RECEPTOR ACTIVATION; SMAD PROTEIN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; COLLAGENASE 3; GELATINASE A; GELATINASE B; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE P38; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; SMAD1 PROTEIN; SMAD2 PROTEIN; SMAD3 PROTEIN; SMAD5 PROTEIN; SMAD8 PROTEIN; STRESS ACTIVATED PROTEIN KINASE;

EID: 84934438713     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-94-7-7893-1_8     Document Type: Article
Times cited : (43)

References (158)
  • 1
    • 28244441145 scopus 로고    scopus 로고
    • Marfan's syndrome
    • Judge DP, Dietz HC (2005) Marfan's syndrome. Lancet 366(9501):1965-1976
    • (2005) Lancet , vol.366 , Issue.9501 , pp. 1965-1976
    • Judge, D.P.1    Dietz, H.C.2
  • 2
    • 84861552028 scopus 로고
    • Marfan syndrome
    • Pagon RA (ed University of Washington, Seattle
    • Dietz HC (1993) Marfan syndrome. In: Pagon RA (ed) Gene reviews. University of Washington, Seattle
    • (1993) Gene reviews
    • Dietz, H.C.1
  • 3
    • 0035153291 scopus 로고    scopus 로고
    • Latent TGF-beta binding protein LTBP-1 contains three potential extracellular matrix interacting domains
    • Unsold C et al (2001) Latent TGF-beta binding protein LTBP-1 contains three potential extracellular matrix interacting domains. J Cell Sci 114(Pt 1):187-197
    • (2001) J Cell Sci , vol.114 , Issue.PART 1 , pp. 187-197
    • Unsold, C.1
  • 4
    • 0029813731 scopus 로고    scopus 로고
    • Latent transforming growth factor-beta 1 and its binding protein are components of extracellular matrix microfi brils
    • Taipale J et al (1996) Latent transforming growth factor-beta 1 and its binding protein are components of extracellular matrix microfi brils. J Histochem Cytochem 44(8):875-889
    • (1996) J Histochem Cytochem , vol.44 , Issue.8 , pp. 875-889
    • Taipale, J.1
  • 5
    • 0028885716 scopus 로고
    • Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein
    • Dallas SL et al (1995) Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein. J Cell Biol 131(2):539-549
    • (1995) J Cell Biol , vol.131 , Issue.2 , pp. 539-549
    • Dallas, S.L.1
  • 6
    • 0037462678 scopus 로고    scopus 로고
    • Latent transforming growth factor beta-binding protein 1 interacts with fi brillin and is a microfi bril-Associated protein
    • Isogai Z et al (2003) Latent transforming growth factor beta-binding protein 1 interacts with fi brillin and is a microfi bril-Associated protein. J Biol Chem 278(4):2750-2757
    • (2003) J Biol Chem , vol.278 , Issue.4 , pp. 2750-2757
    • Isogai, Z.1
  • 7
    • 0037373277 scopus 로고    scopus 로고
    • Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
    • Neptune ER et al (2003) Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33(3):407-411
    • (2003) Nat Genet , vol.33 , Issue.3 , pp. 407-411
    • Neptune, E.R.1
  • 8
    • 20144367207 scopus 로고    scopus 로고
    • A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    • Loeys BL et al (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37(3):275-281
    • (2005) Nat Genet , vol.37 , Issue.3 , pp. 275-281
    • Loeys, B.L.1
  • 9
    • 0026496172 scopus 로고
    • TGF beta signals through a heteromeric protein kinase receptor complex
    • Wrana JL et al (1992) TGF beta signals through a heteromeric protein kinase receptor complex. Cell 71(6):1003-1014
    • (1992) Cell , vol.71 , Issue.6 , pp. 1003-1014
    • Wrana, J.L.1
  • 10
    • 0038362684 scopus 로고    scopus 로고
    • Cell signaling events: A view from the matrix
    • Ramirez F, Rifkin DB (2003) Cell signaling events: A view from the matrix. Matrix Biol 22(2):101-107
    • (2003) Matrix Biol , vol.22 , Issue.2 , pp. 101-107
    • Ramirez, F.1    Rifkin, D.B.2
  • 11
    • 70849099495 scopus 로고    scopus 로고
    • The extracellular matrix: Not just pretty fi brils
    • Hynes RO (2009) The extracellular matrix: Not just pretty fi brils. Science 326(5957):1216-1219
    • (2009) Science , vol.326 , Issue.5957 , pp. 1216-1219
    • Hynes, R.O.1
  • 12
    • 0035234139 scopus 로고    scopus 로고
    • SPARC, a matricellular protein: At the crossroads of cell-matrix communication
    • Brekken RA, Sage EH (2001) SPARC, a matricellular protein: At the crossroads of cell-matrix communication. Matrix Biol 19(8):816-827
    • (2001) Matrix Biol , vol.19 , Issue.8 , pp. 816-827
    • Brekken, R.A.1    Sage, E.H.2
  • 13
    • 0037439630 scopus 로고    scopus 로고
    • Making sense of latent TGFbeta activation
    • Annes JP, Munger JS, Rifkin DB (2003) Making sense of latent TGFbeta activation. J Cell Sci 116(Pt 2):217-224
    • (2003) J Cell Sci , vol.116 , Issue.PART 2 , pp. 217-224
    • Annes, J.P.1    Munger, J.S.2    Rifkin, D.B.3
  • 14
    • 0028170226 scopus 로고
    • Mechanism of activation of the TGF-beta receptor
    • Wrana JL et al (1994) Mechanism of activation of the TGF-beta receptor. Nature 370(6488):341-347
    • (1994) Nature , vol.370 , Issue.6488 , pp. 341-347
    • Wrana, J.L.1
  • 15
    • 0035694910 scopus 로고    scopus 로고
    • Smad regulation in TGF-beta signal transduction
    • Moustakas A, Souchelnytskyi S, Heldin CH (2001) Smad regulation in TGF-beta signal transduction. J Cell Sci 114(Pt 24):4359-4369
    • (2001) J Cell Sci , vol.114 , Issue.PART 24 , pp. 4359-4369
    • Moustakas, A.1    Souchelnytskyi, S.2    Heldin, C.H.3
  • 16
    • 23044466047 scopus 로고    scopus 로고
    • Specifi city and versatility in tgf-beta signaling through Smads
    • Feng XH, Derynck R (2005) Specifi city and versatility in tgf-beta signaling through Smads. Annu Rev Cell Dev Biol 21:659-693
    • (2005) Annu Rev Cell Dev Biol , vol.21 , pp. 659-693
    • Feng, X.H.1    Derynck, R.2
  • 17
    • 21244479759 scopus 로고    scopus 로고
    • Fine tuning and cross-Talking of TGF-beta signal by inhibitory Smads
    • Park SH (2005) Fine tuning and cross-Talking of TGF-beta signal by inhibitory Smads. J Biochem Mol Biol 38(1):9-16
    • (2005) J Biochem Mol Biol , vol.38 , Issue.1 , pp. 9-16
    • Park, S.H.1
  • 18
    • 0030765945 scopus 로고    scopus 로고
    • Smad6 inhibits signalling by the TGF-beta superfamily
    • Imamura T et al (1997) Smad6 inhibits signalling by the TGF-beta superfamily. Nature 389(6651):622-626
    • (1997) Nature , vol.389 , Issue.6651 , pp. 622-626
    • Imamura, T.1
  • 19
    • 0031964859 scopus 로고    scopus 로고
    • Smad6 inhibits BMP/Smad1 signaling by specifi cally competing with the Smad4 tumor suppressor
    • Hata A et al (1998) Smad6 inhibits BMP/Smad1 signaling by specifi cally competing with the Smad4 tumor suppressor. Genes Dev 12(2):186-197
    • (1998) Genes Dev , vol.12 , Issue.2 , pp. 186-197
    • Hata, A.1
  • 20
    • 33751277951 scopus 로고    scopus 로고
    • Reversible ubiquitination regulates the Smad/TGF-beta signalling pathway
    • Wicks SJ et al (2006) Reversible ubiquitination regulates the Smad/TGF-beta signalling pathway. Biochem Soc Trans 34(Pt 5):761-763
    • (2006) Biochem Soc Trans , vol.34 , Issue.PART 5 , pp. 761-763
    • Wicks, S.J.1
  • 21
    • 0035918274 scopus 로고    scopus 로고
    • Smurf1 interacts with transforming growth factor-beta type-I receptor through Smad7 and induces receptor degradation
    • Ebisawa T et al (2001) Smurf1 interacts with transforming growth factor-beta type-I receptor through Smad7 and induces receptor degradation. J Biol Chem 276(16):12477-12480
    • (2001) J Biol Chem , vol.276 , Issue.16 , pp. 12477-12480
    • Ebisawa, T.1
  • 22
    • 0034517389 scopus 로고    scopus 로고
    • Smad7 binds to Smurf2 to form an E3 ubiquitin ligase that targets the TGF beta receptor for degradation
    • Kavsak P et al (2000) Smad7 binds to Smurf2 to form an E3 ubiquitin ligase that targets the TGF beta receptor for degradation. Mol Cell 6(6):1365-1375
    • (2000) Mol Cell , vol.6 , Issue.6 , pp. 1365-1375
    • Kavsak, P.1
  • 23
    • 33747015300 scopus 로고    scopus 로고
    • Extracellular proteoglycans modify TGF-beta bio-Availability attenuating its signaling during skeletal muscle differentiation
    • Droguett R et al (2006) Extracellular proteoglycans modify TGF-beta bio-Availability attenuating its signaling during skeletal muscle differentiation. Matrix Biol 25(6):332-341
    • (2006) Matrix Biol , vol.25 , Issue.6 , pp. 332-341
    • Droguett, R.1
  • 24
    • 0032893390 scopus 로고    scopus 로고
    • Transforming growth factorbeta and p-21: Multiple molecular targets of decorinmediated suppression of neoplastic growth
    • Stander M et al (1999) Transforming growth factorbeta and p-21: Multiple molecular targets of decorinmediated suppression of neoplastic growth. Cell Tissue Res 296(2):221-227
    • (1999) Cell Tissue Res , vol.296 , Issue.2 , pp. 221-227
    • Stander, M.1
  • 25
    • 0027976511 scopus 로고
    • Betaglycan can act as a dual modulator of TGF-beta access to signaling receptors: Mapping of ligand binding and GAG attachment sites
    • Lopez-Casillas F et al (1994) Betaglycan can act as a dual modulator of TGF-beta access to signaling receptors: Mapping of ligand binding and GAG attachment sites. J Cell Biol 124(4):557-568
    • (1994) J Cell Biol , vol.124 , Issue.4 , pp. 557-568
    • Lopez-Casillas, F.1
  • 26
    • 0037099745 scopus 로고    scopus 로고
    • TGF-beta receptor-Activated p38 MAP kinase mediates Smad- independent TGF-beta responses
    • Yu L, Hebert MC, Zhang YE (2002) TGF-beta receptor-Activated p38 MAP kinase mediates Smad- independent TGF-beta responses. EMBO J 21(14):3749-3759
    • (2002) EMBO J , vol.21 , Issue.14 , pp. 3749-3759
    • Yu, L.1    Hebert, M.C.2    Zhang, Y.E.3
  • 27
    • 0037474223 scopus 로고    scopus 로고
    • Autocrine transforming growth factor-beta signaling mediates Smad-independent motility in human cancer cells
    • Dumont N, Bakin AV, Arteaga CL (2003) Autocrine transforming growth factor-beta signaling mediates Smad-independent motility in human cancer cells. J Biol Chem 278(5):3275-3285
    • (2003) J Biol Chem , vol.278 , Issue.5 , pp. 3275-3285
    • Dumont, N.1    Bakin, A.V.2    Arteaga, C.L.3
  • 28
    • 0031741865 scopus 로고    scopus 로고
    • Physical and functional interactions between type-I transforming growth factor beta receptors and Balpha, a WD-40 repeat subunit of phosphatase 2A
    • Griswold-Prenner I et al (1998) Physical and functional interactions between type-I transforming growth factor beta receptors and Balpha, a WD-40 repeat subunit of phosphatase 2A. Mol Cell Biol 18(11):6595-6604
    • (1998) Mol Cell Biol , vol.18 , Issue.11 , pp. 6595-6604
    • Griswold-Prenner, I.1
  • 29
    • 0037423374 scopus 로고    scopus 로고
    • Elucidation of Smad requirement in transforming growth factor-beta type-I receptorinduced responses
    • Itoh S et al (2003) Elucidation of Smad requirement in transforming growth factor-beta type-I receptorinduced responses. J Biol Chem 278(6):3751-3761
    • (2003) J Biol Chem , vol.278 , Issue.6 , pp. 3751-3761
    • Itoh, S.1
  • 30
    • 0242721599 scopus 로고    scopus 로고
    • Cell-Type-specifi c activation of PAK2 by transforming growth factor beta independent of Smad2 and Smad3
    • Wilkes MC et al (2003) Cell-Type-specifi c activation of PAK2 by transforming growth factor beta independent of Smad2 and Smad3. Mol Cell Biol 23(23):8878-8889
    • (2003) Mol Cell Biol , vol.23 , Issue.23 , pp. 8878-8889
    • Wilkes, M.C.1
  • 31
    • 0032553555 scopus 로고    scopus 로고
    • The type-II transforming growth factor (TGF)-beta receptor-interacting protein TRIP-1 acts as a modulator of the TGF-beta response
    • Choy L, Derynck R (1998) The type-II transforming growth factor (TGF)-beta receptor-interacting protein TRIP-1 acts as a modulator of the TGF-beta response. J Biol Chem 273(47):31455-31462
    • (1998) J Biol Chem , vol.273 , Issue.47 , pp. 31455-31462
    • Choy, L.1    Derynck, R.2
  • 32
    • 14844364701 scopus 로고    scopus 로고
    • Regulation of the polarity protein Par6 by TGFbeta receptors controls epithelial cell plasticity
    • Ozdamar B et al (2005) Regulation of the polarity protein Par6 by TGFbeta receptors controls epithelial cell plasticity. Science 307(5715):1603-1609
    • (2005) Science , vol.307 , Issue.5715 , pp. 1603-1609
    • Ozdamar, B.1
  • 33
    • 0033104505 scopus 로고    scopus 로고
    • TGF-beta induces fi bronectin synthesis through a c-Jun N-Terminal kinase-dependent Smad4-independent pathway
    • Hocevar BA, Brown TL, Howe PH (1999) TGF-beta induces fi bronectin synthesis through a c-Jun N-Terminal kinase-dependent, Smad4-independent pathway. EMBO J 18(5):1345-1356
    • (1999) EMBO J , vol.18 , Issue.5 , pp. 1345-1356
    • Hocevar, B.A.1    Brown, T.L.2    Howe, P.H.3
  • 34
    • 16844382294 scopus 로고    scopus 로고
    • TGF beta-induced focal complex formation in epithelial cells is mediated by activated ERK and JNK MAP kinases and is independent of Smad4
    • Imamichi Y et al (2005) TGF beta-induced focal complex formation in epithelial cells is mediated by activated ERK and JNK MAP kinases and is independent of Smad4. Biol Chem 386(3):225-236
    • (2005) Biol Chem , vol.386 , Issue.3 , pp. 225-236
    • Imamichi, Y.1
  • 35
    • 2342647439 scopus 로고    scopus 로고
    • PKB/Akt modulates TGF-beta signalling through a direct interaction with Smad3
    • Remy I, Montmarquette A, Michnick SW (2004) PKB/Akt modulates TGF-beta signalling through a direct interaction with Smad3. Nat Cell Biol 6(4):358-365
    • (2004) Nat Cell Biol , vol.6 , Issue.4 , pp. 358-365
    • Remy, I.1    Montmarquette, A.2    Michnick, S.W.3
  • 36
    • 1642535424 scopus 로고    scopus 로고
    • The phosphatidylinositol 3-kinase/Akt pathway enhances Smad3-stimulated mesangial cell collagen I expression in response to transforming growth factorbeta1
    • Runyan CE, Schnaper HW, Poncelet AC (2004) The phosphatidylinositol 3-kinase/Akt pathway enhances Smad3-stimulated mesangial cell collagen I expression in response to transforming growth factorbeta1. J Biol Chem 279(4):2632-2639
    • (2004) J Biol Chem , vol.279 , Issue.4 , pp. 2632-2639
    • Runyan, C.E.1    Schnaper, H.W.2    Poncelet, A.C.3
  • 37
    • 0035286516 scopus 로고    scopus 로고
    • Regulation of Smad signaling by protein kinase C
    • Yakymovych I et al (2001) Regulation of Smad signaling by protein kinase C. FASEB J 15(3): 553-555
    • (2001) FASEB J , vol.15 , Issue.3 , pp. 553-555
    • Yakymovych, I.1
  • 38
    • 65549088034 scopus 로고    scopus 로고
    • P38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fi brillin-1 (Fbn1)-null mice
    • Carta L et al (2009) p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fi brillin-1 (Fbn1)-null mice. J Biol Chem 284(9):5630-5636
    • (2009) J Biol Chem , vol.284 , Issue.9 , pp. 5630-5636
    • Carta, L.1
  • 39
    • 52049111663 scopus 로고    scopus 로고
    • TRAF6 mediates Smadindependent activation of JNK and p38 by TGFbeta
    • Yamashita M et al (2008) TRAF6 mediates Smadindependent activation of JNK and p38 by TGFbeta. Mol Cell 31(6):918-924
    • (2008) Mol Cell , vol.31 , Issue.6 , pp. 918-924
    • Yamashita, M.1
  • 40
    • 53349164136 scopus 로고    scopus 로고
    • The type-I TGF-beta receptor engages TRAF6 to activate TAK1 in a receptor kinase-independent manner
    • Sorrentino A et al (2008) The type-I TGF-beta receptor engages TRAF6 to activate TAK1 in a receptor kinase-independent manner. Nat Cell Biol 10(10):1199-1207
    • (2008) Nat Cell Biol , vol.10 , Issue.10 , pp. 1199-1207
    • Sorrentino, A.1
  • 41
    • 34548386720 scopus 로고    scopus 로고
    • TGF-beta activates Erk MAP kinase signalling through direct phosphorylation of ShcA
    • Lee MK et al (2007) TGF-beta activates Erk MAP kinase signalling through direct phosphorylation of ShcA. EMBO J 26(17):3957-3967
    • (2007) EMBO J , vol.26 , Issue.17 , pp. 3957-3967
    • Lee, M.K.1
  • 42
    • 28544450380 scopus 로고    scopus 로고
    • Transforming growth factorbeta activation of phosphatidylinositol 3-kinase is independent of Smad2 and Smad3 and regulates fi broblast responses via p21-Activated kinase-2
    • Wilkes MC et al (2005) Transforming growth factorbeta activation of phosphatidylinositol 3-kinase is independent of Smad2 and Smad3 and regulates fi broblast responses via p21-Activated kinase-2. Cancer Res 65(22):10431-10440
    • (2005) Cancer Res , vol.65 , Issue.22 , pp. 10431-10440
    • Wilkes, M.C.1
  • 43
    • 30144440059 scopus 로고    scopus 로고
    • Transforming growth factorbeta signal transduction in angiogenesis and vascular disorders
    • 6 Suppl
    • Bertolino P et al (2005) Transforming growth factorbeta signal transduction in angiogenesis and vascular disorders. Chest 128(6 Suppl):585S-590S
    • (2005) Chest , vol.128
    • Bertolino, P.1
  • 44
    • 0034574298 scopus 로고    scopus 로고
    • How cells read TGF-beta signals
    • Massague J (2000) How cells read TGF-beta signals. Nat Rev Mol Cell Biol 1(3):169-178
    • (2000) Nat Rev Mol Cell Biol , vol.1 , Issue.3 , pp. 169-178
    • Massague, J.1
  • 45
    • 0023025366 scopus 로고
    • Transforming growth factor-beta stimulates the expression of fi bronectin and collagen and their incorporation into the extracellular matrix
    • Ignotz RA, Massague J (1986) Transforming growth factor-beta stimulates the expression of fi bronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem 261(9):4337-4345
    • (1986) J Biol Chem , vol.261 , Issue.9 , pp. 4337-4345
    • Ignotz, R.A.1    Massague, J.2
  • 46
    • 33847683870 scopus 로고    scopus 로고
    • Regulation of matrix metalloproteinase gene expression
    • Yan C, Boyd DD (2007) Regulation of matrix metalloproteinase gene expression. J Cell Physiol 211(1):19-26
    • (2007) J Cell Physiol , vol.211 , Issue.1 , pp. 19-26
    • Yan, C.1    Boyd, D.D.2
  • 47
    • 33645698574 scopus 로고    scopus 로고
    • Transforming growth factorbeta1 induces tissue inhibitor of metalloproteinase-1 expression via activation of extracellular signalregulated kinase and Sp1 in human fi brosarcoma cells
    • Kwak HJ et al (2006) Transforming growth factorbeta1 induces tissue inhibitor of metalloproteinase-1 expression via activation of extracellular signalregulated kinase and Sp1 in human fi brosarcoma cells. Mol Cancer Res MCR 4(3):209-220
    • (2006) Mol Cancer Res MCR , vol.4 , Issue.3 , pp. 209-220
    • Kwak, H.J.1
  • 48
    • 10344255835 scopus 로고    scopus 로고
    • TGF-betainduced upregulation of MMP-2 and MMP-9 depends on p38 MAPK, but not ERK signaling in MCF10A human breast epithelial cells
    • Kim ES, Kim MS, Moon A (2004) TGF-betainduced upregulation of MMP-2 and MMP-9 depends on p38 MAPK, but not ERK signaling in MCF10A human breast epithelial cells. Int J Oncol 25(5):1375-1382
    • (2004) Int J Oncol , vol.25 , Issue.5 , pp. 1375-1382
    • Kim, E.S.1    Kim, M.S.2    Moon, A.3
  • 49
    • 0022530451 scopus 로고
    • Transforming growth factor beta alters plasminogen activator activity in human skin fi broblasts
    • Laiho M, Saksela O, Keski-Oja J (1986) Transforming growth factor beta alters plasminogen activator activity in human skin fi broblasts. Exp Cell Res 164(2): 399-407
    • (1986) Exp Cell Res , vol.164 , Issue.2 , pp. 399-407
    • Laiho, M.1    Saksela, O.2    Keski-Oja, J.3
  • 50
    • 50549084575 scopus 로고    scopus 로고
    • Transforming growth factor-beta signaling in thoracic aortic aneurysm development: A paradox in pathogenesis
    • Jones JA, Spinale FG, Ikonomidis JS (2009) Transforming growth factor-beta signaling in thoracic aortic aneurysm development: A paradox in pathogenesis. J Vasc Res 46(2):119-137
    • (2009) J Vasc Res , vol.46 , Issue.2 , pp. 119-137
    • Jones, J.A.1    Spinale, F.G.2    Ikonomidis, J.S.3
  • 51
    • 2442489944 scopus 로고    scopus 로고
    • Transforming growth factor-beta 1 regulation of collagenase-3 expression in osteoblastic cells by cross-Talk between the Smad and MAPK signaling pathways and their components, Smad2 and Runx2
    • Selvamurugan N et al (2004) Transforming growth factor-beta 1 regulation of collagenase-3 expression in osteoblastic cells by cross-Talk between the Smad and MAPK signaling pathways and their components, Smad2 and Runx2. J Biol Chem 279(18):19327-19334
    • (2004) J Biol Chem , vol.279 , Issue.18 , pp. 19327-19334
    • Selvamurugan, N.1
  • 52
    • 82355182537 scopus 로고    scopus 로고
    • Fibrodysplasia ossifi cans progressiva: Clinical and genetic aspects
    • Pignolo RJ, Shore EM, Kaplan FS (2011) Fibrodysplasia ossifi cans progressiva: Clinical and genetic aspects. Orphanet J Rare Dis 6:80
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 80
    • Pignolo, R.J.1    Shore, E.M.2    Kaplan, F.S.3
  • 53
    • 33744515391 scopus 로고    scopus 로고
    • Roles of activin in tissue repair, fi brosis, and infl ammatory disease
    • Werner S, Alzheimer C (2006) Roles of activin in tissue repair, fi brosis, and infl ammatory disease. Cytokine Growth Factor Rev 17(3):157-171
    • (2006) Cytokine Growth Factor Rev , vol.17 , Issue.3 , pp. 157-171
    • Werner, S.1    Alzheimer, C.2
  • 54
    • 84871333396 scopus 로고
    • Thoracic aortic aneurysms and aortic dissections
    • Pagon RA (ed University of Washington, Seattle
    • Milewicz DM, Regalado E (1993) Thoracic aortic aneurysms and aortic dissections. In: Pagon RA (ed) Gene reviews. University of Washington, Seattle
    • (1993) Gene reviews
    • Milewicz, D.M.1    Regalado, E.2
  • 55
    • 73949113485 scopus 로고    scopus 로고
    • Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
    • Attias D et al (2009) Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation 120(25):2541-2549
    • (2009) Circulation , vol.120 , Issue.25 , pp. 2541-2549
    • Attias, D.1
  • 56
    • 0346980176 scopus 로고    scopus 로고
    • Chest radiography for the diagnosis of acute aortic syndrome
    • von Kodolitsch Y et al (2004) Chest radiography for the diagnosis of acute aortic syndrome. Am J Med 116(2):73-77
    • (2004) Am J Med , vol.116 , Issue.2 , pp. 73-77
    • Von Kodolitsch, Y.1
  • 57
    • 0021342549 scopus 로고
    • Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives Comparison with the cardiac abnormalities in patients with kyphoscoliosis
    • Bruno L et al (1984) Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis. Br Heart J 51(2):220-230
    • (1984) Br Heart J , vol.51 , Issue.2 , pp. 220-230
    • Bruno, L.1
  • 59
    • 33747812887 scopus 로고    scopus 로고
    • Aneurysm syndromes caused by mutations in the TGF-beta receptor
    • Loeys BL et al (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. New Engl J Med 355(8):788-798
    • (2006) New Engl J Med , vol.355 , Issue.8 , pp. 788-798
    • Loeys, B.L.1
  • 60
    • 0030946538 scopus 로고    scopus 로고
    • Familial thoracic aortic dilatations and dissections: A case control study
    • Biddinger A et al (1997) Familial thoracic aortic dilatations and dissections: A case control study. J Vasc Surg 25(3):506-511
    • (1997) J Vasc Surg , vol.25 , Issue.3 , pp. 506-511
    • Biddinger, A.1
  • 61
    • 0034673103 scopus 로고    scopus 로고
    • The International Registry of Acute Aortic Dissection (IRAD): New insights into an old disease
    • Hagan PG et al (2000) The International Registry of Acute Aortic Dissection (IRAD): New insights into an old disease. JAMA 283(7):897-903
    • (2000) JAMA , vol.283 , Issue.7 , pp. 897-903
    • Hagan, P.G.1
  • 62
    • 65149088429 scopus 로고    scopus 로고
    • Mutations in smooth muscle alpha-Actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
    • Guo DC et al (2009) Mutations in smooth muscle alpha-Actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 84(5):617-627
    • (2009) Am J Hum Genet , vol.84 , Issue.5 , pp. 617-627
    • Guo, D.C.1
  • 63
    • 78349242484 scopus 로고    scopus 로고
    • De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
    • Milewicz DM et al (2010) De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 152A(10):2437-2443
    • (2010) Am J Med Genet A , vol.152 A , Issue.10 , pp. 2437-2443
    • Milewicz, D.M.1
  • 64
    • 34548307188 scopus 로고    scopus 로고
    • Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance
    • Loscalzo ML et al (2007) Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance. Am J Med Genet A 143A(17):1960-1967
    • (2007) Am J Med Genet A , vol.143 A , Issue.17 , pp. 1960-1967
    • Loscalzo, M.L.1
  • 65
    • 33644627494 scopus 로고    scopus 로고
    • Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
    • Zhu L et al (2006) Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 38(3):343-349
    • (2006) Nat Genet , vol.38 , Issue.3 , pp. 343-349
    • Zhu, L.1
  • 66
    • 13844275555 scopus 로고    scopus 로고
    • Thoracic and abdominal aortic aneurysms
    • Isselbacher EM (2005) Thoracic and abdominal aortic aneurysms. Circulation 111(6):816-828
    • (2005) Circulation , vol.111 , Issue.6 , pp. 816-828
    • Isselbacher, E.M.1
  • 67
    • 0042090396 scopus 로고    scopus 로고
    • Fibroblast-specifi c expression of a kinase-defi cient type-II transforming growth factor beta (TGFbeta) receptor leads to paradoxical activation of TGFbeta signaling pathways with fi brosis in transgenic mice
    • Denton CP et al (2003) Fibroblast-specifi c expression of a kinase-defi cient type-II transforming growth factor beta (TGFbeta) receptor leads to paradoxical activation of TGFbeta signaling pathways with fi brosis in transgenic mice. J Biol Chem 278(27):25109-25119
    • (2003) J Biol Chem , vol.278 , Issue.27 , pp. 25109-25119
    • Denton, C.P.1
  • 68
    • 0033851028 scopus 로고    scopus 로고
    • Endoglin expression on human microvascular endothelial cells association with betaglycan and formation of higher order complexes with TGF-beta signalling receptors
    • Wong SH et al (2000) Endoglin expression on human microvascular endothelial cells association with betaglycan and formation of higher order complexes with TGF-beta signalling receptors. Eur J Biochem/FEBS 267(17):5550-5560
    • (2000) Eur J Biochem/FEBS , vol.267 , Issue.17 , pp. 5550-5560
    • Wong, S.H.1
  • 69
    • 0037598870 scopus 로고    scopus 로고
    • Distinct endocytic pathways regulate TGF-beta receptor signalling and turnover
    • Di Guglielmo GM et al (2003) Distinct endocytic pathways regulate TGF-beta receptor signalling and turnover. Nat Cell Biol 5(5):410-421
    • (2003) Nat Cell Biol , vol.5 , Issue.5 , pp. 410-421
    • Di Guglielmo, G.M.1
  • 70
    • 0030611757 scopus 로고    scopus 로고
    • Identifi cation of Smad7, a TGFbeta-inducible antagonist of TGF-beta signalling
    • Nakao A et al (1997) Identifi cation of Smad7, a TGFbeta-inducible antagonist of TGF-beta signalling. Nature 389(6651):631-635
    • (1997) Nature , vol.389 , Issue.6651 , pp. 631-635
    • Nakao, A.1
  • 71
    • 79251602475 scopus 로고    scopus 로고
    • Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
    • van De Laar IM et al (2011) Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 43(2):121-126
    • (2011) Nat Genet , vol.43 , Issue.2 , pp. 121-126
    • Van De Laar, I.M.1
  • 72
    • 49649108593 scopus 로고    scopus 로고
    • New insights in the pathogenesis of aortic aneurysms
    • Loeys B, De Paepe A (2008) New insights in the pathogenesis of aortic aneurysms. Verh K Acad Geneeskd Belg 70(2):69-84
    • (2008) Verh K Acad Geneeskd Belg , vol.70 , Issue.2 , pp. 69-84
    • Loeys, B.1    De Paepe, A.2
  • 73
    • 33645381280 scopus 로고    scopus 로고
    • Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
    • Coucke PJ et al (2006) Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 38(4):452-457
    • (2006) Nat Genet , vol.38 , Issue.4 , pp. 452-457
    • Coucke, P.J.1
  • 74
    • 0020422246 scopus 로고
    • A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias
    • Shprintzen RJ, Goldberg RB (1982) A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol 2(1):65-74
    • (1982) J Craniofac Genet Dev Biol , vol.2 , Issue.1 , pp. 65-74
    • Shprintzen, R.J.1    Goldberg, R.B.2
  • 75
    • 0032546209 scopus 로고    scopus 로고
    • Shprintzen-Goldberg syndrome: A clinical analysis
    • Greally MT et al (1998) Shprintzen-Goldberg syndrome: A clinical analysis. Am J Med Genet 76(3):202-212
    • (1998) Am J Med Genet , vol.76 , Issue.3 , pp. 202-212
    • Greally, M.T.1
  • 76
    • 34547590052 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factorbeta receptor genes
    • Akutsu K et al (2007) Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factorbeta receptor genes. Circ J 71(8):1305-1309
    • (2007) Circ J , vol.71 , Issue.8 , pp. 1305-1309
    • Akutsu, K.1
  • 77
    • 84896922007 scopus 로고
    • Shprintzen-Goldberg syndrome
    • Pagon RA et al (eds University of Washington, Seattle
    • Greally MT (1993) Shprintzen-Goldberg syndrome. In: Pagon RA et al (eds) Gene reviews. University of Washington, Seattle
    • (1993) Gene reviews
    • Greally, M.T.1
  • 78
    • 19944363541 scopus 로고    scopus 로고
    • Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis
    • Robinson PN et al (2005) Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis. Am J Med Genet A 135(3):251-262
    • (2005) Am J Med Genet A , vol.135 , Issue.3 , pp. 251-262
    • Robinson, P.N.1
  • 79
    • 0029031005 scopus 로고
    • Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome
    • Ades LC et al (1995) Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. Am J Med Genet 57(4):565-572
    • (1995) Am J Med Genet , vol.57 , Issue.4 , pp. 565-572
    • Ades, L.C.1
  • 80
    • 33646243773 scopus 로고    scopus 로고
    • FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation Disorders revisited
    • Ades LC et al (2006) FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation Disorders revisited. Am J Med Genet A 140(10): 1047-1058
    • (2006) Am J Med Genet A , vol.140 , Issue.10 , pp. 1047-1058
    • Ades, L.C.1
  • 81
    • 15244363856 scopus 로고    scopus 로고
    • TGF- -dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
    • Ng CM (2004) TGF- -dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 114(11):1586-1592
    • (2004) J Clin Invest , vol.114 , Issue.11 , pp. 1586-1592
    • Ng, C.M.1
  • 82
    • 79955436613 scopus 로고    scopus 로고
    • Transforming growth factor- beta receptor type-II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection
    • Girdauskas E et al (2011) Transforming growth factor- beta receptor type-II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection. Ann Thorac Surg 91(5):e70-e71
    • (2011) Ann Thorac Surg , vol.91 , Issue.5
    • Girdauskas, E.1
  • 83
    • 0000990603 scopus 로고
    • Epistaxis repetees chez un sujet porteur de petits angiomes cutanes et muquez
    • et Militaires (Paris
    • Rendu H (1896) Epistaxis repetees chez un sujet porteur de petits angiomes cutanes et muquez. Gazette des Hopitaux Civils et Militaires (Paris) 135:1322
    • (1896) Gazette des Hopitaux Civils , vol.135 , pp. 1322
    • Rendu, H.1
  • 84
    • 0001210867 scopus 로고
    • On a family form of recurring epistaxis, associated with multiple telangectases of the skin and mucous membranes
    • Osler W (1901) On a family form of recurring epistaxis, associated with multiple telangectases of the skin and mucous membranes. Bull Johns Hopkins Hosp 12:333
    • (1901) Bull Johns Hopkins Hosp , vol.12 , pp. 333
    • Osler, W.1
  • 85
    • 50249209093 scopus 로고
    • Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring hemorrhages
    • Weber F (1907) Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring hemorrhages. Lancet 2:160-162
    • (1907) Lancet , vol.2 , pp. 160-162
    • Weber, F.1
  • 86
    • 0033007057 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: A population-based study of prevalence and mortality in Danish patients
    • Kjeldsen AD, Vase P, Green A (1999) Hereditary haemorrhagic telangiectasia: A population-based study of prevalence and mortality in Danish patients. J Intern Med 245(1):31-39
    • (1999) J Intern Med , vol.245 , Issue.1 , pp. 31-39
    • Kjeldsen, A.D.1    Vase, P.2    Green, A.3
  • 87
    • 0024726297 scopus 로고
    • Epidemiological investigation of Rendu-Osler disease in France: Its geographical distribution and prevalence
    • Bideau A et al (1989) Epidemiological investigation of Rendu-Osler disease in France: Its geographical distribution and prevalence. Popul Engl Sel 44(1):3-22
    • (1989) Popul Engl Sel , vol.44 , Issue.1 , pp. 3-22
    • Bideau, A.1
  • 88
    • 40649111657 scopus 로고    scopus 로고
    • Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia
    • Shovlin CL et al (2008) Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax 63(3):259-266
    • (2008) Thorax , vol.63 , Issue.3 , pp. 259-266
    • Shovlin, C.L.1
  • 89
    • 0032720393 scopus 로고    scopus 로고
    • A murine model of hereditary hemorrhagic telangiectasia
    • Bourdeau A, Dumont DJ, Letarte M (1999) A murine model of hereditary hemorrhagic telangiectasia. J Clin Invest 104(10):1343-1351
    • (1999) J Clin Invest , vol.104 , Issue.10 , pp. 1343-1351
    • Bourdeau, A.1    Dumont, D.J.2    Letarte, M.3
  • 90
    • 0033910409 scopus 로고    scopus 로고
    • A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1
    • Wallace GM, Shovlin CL (2000) A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. Thorax 55(8):685-690
    • (2000) Thorax , vol.55 , Issue.8 , pp. 685-690
    • Wallace, G.M.1    Shovlin, C.L.2
  • 91
    • 22244449292 scopus 로고    scopus 로고
    • A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
    • Cole SG et al (2005) A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 42(7):577-582
    • (2005) J Med Genet , vol.42 , Issue.7 , pp. 577-582
    • Cole, S.G.1
  • 92
    • 0024394433 scopus 로고
    • Age-related clinical profi le of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
    • Plauchu H et al (1989) Age-related clinical profi le of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 32(3):291-297
    • (1989) Am J Med Genet , vol.32 , Issue.3 , pp. 291-297
    • Plauchu, H.1
  • 93
    • 27644468737 scopus 로고    scopus 로고
    • Capillaroscopy of the dorsal skin of the hands in hereditary hemorrhagic telangiectasia
    • Pasculli G et al (2005) Capillaroscopy of the dorsal skin of the hands in hereditary hemorrhagic telangiectasia. QJM 98(10):757-763
    • (2005) QJM , vol.98 , Issue.10 , pp. 757-763
    • Pasculli, G.1
  • 94
    • 0032231685 scopus 로고    scopus 로고
    • MR of hereditary hemorrhagic telangiectasia: Prevalence and spectrum of cerebrovascular malformations
    • Fulbright RK et al (1998) MR of hereditary hemorrhagic telangiectasia: Prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol 19(3):477-484
    • (1998) AJNR Am J Neuroradiol , vol.19 , Issue.3 , pp. 477-484
    • Fulbright, R.K.1
  • 95
    • 2142703735 scopus 로고    scopus 로고
    • Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia
    • Cottin V et al (2004) Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 169(9):994-1000
    • (2004) Am J Respir Crit Care Med , vol.169 , Issue.9 , pp. 994-1000
    • Cottin, V.1
  • 96
    • 0030014405 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2
    • Piantanida M et al (1996) Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet 33(6):441-443
    • (1996) J Med Genet , vol.33 , Issue.6 , pp. 441-443
    • Piantanida, M.1
  • 97
    • 67649199928 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: A clinical and scientifi c review
    • Govani FS, Shovlin CL (2009) Hereditary haemorrhagic telangiectasia: A clinical and scientifi c review. Eur J Hum Genet 17(7):860-871
    • (2009) Eur J Hum Genet , vol.17 , Issue.7 , pp. 860-871
    • Govani, F.S.1    Shovlin, C.L.2
  • 98
    • 36049038657 scopus 로고    scopus 로고
    • Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): Association with venous thromboembolism
    • Shovlin CL et al (2007) Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): Association with venous thromboembolism. Thromb Haemost 98(5):1031-1039
    • (2007) Thromb Haemost , vol.98 , Issue.5 , pp. 1031-1039
    • Shovlin, C.L.1
  • 99
    • 33744999896 scopus 로고    scopus 로고
    • Patients with Hereditary Hemorrhagic Telangectasia (HHT) exhibit a defi cit of polymorphonuclear cell and monocyte oxidative burst and phagocytosis: A possible correlation with altered adaptive immune responsiveness in HHT
    • Cirulli A et al (2006) Patients with Hereditary Hemorrhagic Telangectasia (HHT) exhibit a defi cit of polymorphonuclear cell and monocyte oxidative burst and phagocytosis: A possible correlation with altered adaptive immune responsiveness in HHT. Curr Pharm Des 12(10):1209-1215
    • (2006) Curr Pharm Des , vol.12 , Issue.10 , pp. 1209-1215
    • Cirulli, A.1
  • 100
    • 0034007163 scopus 로고    scopus 로고
    • Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler- Weber syndrome
    • Shovlin CL et al (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler- Weber syndrome). Am J Med Genet 91(1):66-67
    • (2000) Am J Med Genet , vol.91 , Issue.1 , pp. 66-67
    • Shovlin, C.L.1
  • 101
    • 79551624460 scopus 로고    scopus 로고
    • International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
    • Faughnan ME et al (2011) International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 48(2):73-87
    • (2011) J Med Genet , vol.48 , Issue.2 , pp. 73-87
    • Faughnan, M.E.1
  • 102
    • 0028171579 scopus 로고
    • Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
    • McAllister KA et al (1994) Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8(4):345-351
    • (1994) Nat Genet , vol.8 , Issue.4 , pp. 345-351
    • McAllister, K.A.1
  • 103
    • 0030813490 scopus 로고    scopus 로고
    • The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
    • Berg JN et al (1997) The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 61(1):60-67
    • (1997) Am J Hum Genet , vol.61 , Issue.1 , pp. 60-67
    • Berg, J.N.1
  • 104
    • 0030050973 scopus 로고    scopus 로고
    • Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
    • Johnson DW et al (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 13(2):189-195
    • (1996) Nat Genet , vol.13 , Issue.2 , pp. 189-195
    • Johnson, D.W.1
  • 105
    • 79955009402 scopus 로고    scopus 로고
    • SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction
    • Andrabi S et al (2011) SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A 155A(5):1165-1169
    • (2011) Am J Med Genet A , vol.155 A , Issue.5 , pp. 1165-1169
    • Andrabi, S.1
  • 106
    • 24344461857 scopus 로고    scopus 로고
    • Reduced endothelial secretion and plasma levels of transforming growth factorbeta1 in patients with hereditary hemorrhagic telangiectasia type 1
    • Letarte M et al (2005) Reduced endothelial secretion and plasma levels of transforming growth factorbeta1 in patients with hereditary hemorrhagic telangiectasia type 1. Cardiovasc Res 68(1):155-164
    • (2005) Cardiovasc Res , vol.68 , Issue.1 , pp. 155-164
    • Letarte, M.1
  • 107
    • 0036340364 scopus 로고    scopus 로고
    • Disruption of acvrl1 increases endothelial cell number in zebrafi sh cranial vessels
    • Roman BL et al (2002) Disruption of acvrl1 increases endothelial cell number in zebrafi sh cranial vessels. Development 129(12):3009-3019
    • (2002) Development , vol.129 , Issue.12 , pp. 3009-3019
    • Roman, B.L.1
  • 108
    • 12944273545 scopus 로고    scopus 로고
    • Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis
    • Oh SP et al (2000) Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci U S A 97(6):2626-2631
    • (2000) Proc Natl Acad Sci U S A , vol.97 , Issue.6 , pp. 2626-2631
    • Oh, S.P.1
  • 109
    • 0141752813 scopus 로고    scopus 로고
    • Arterial endotheliumspecifi c activin receptor-like kinase 1 expression suggests its role in arterialization and vascular remodeling
    • Seki T, Yun J, Oh SP (2003) Arterial endotheliumspecifi c activin receptor-like kinase 1 expression suggests its role in arterialization and vascular remodeling. Circ Res 93(7):682-689
    • (2003) Circ Res , vol.93 , Issue.7 , pp. 682-689
    • Seki, T.1    Yun, J.2    Oh, S.P.3
  • 110
    • 0035896622 scopus 로고    scopus 로고
    • Inhibition of angiogenesis in vivo by plasminogen activator inhibitor-1
    • Stefansson S et al (2001) Inhibition of angiogenesis in vivo by plasminogen activator inhibitor-1. J Biol Chem 276(11):8135-8141
    • (2001) J Biol Chem , vol.276 , Issue.11 , pp. 8135-8141
    • Stefansson, S.1
  • 111
    • 26444609583 scopus 로고    scopus 로고
    • Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions
    • Fernandez LA et al (2005) Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions. Cardiovasc Res 68(2):235-248
    • (2005) Cardiovasc Res , vol.68 , Issue.2 , pp. 235-248
    • Fernandez, L.A.1
  • 112
    • 0242330126 scopus 로고    scopus 로고
    • Activin receptorlike kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK-5 signaling
    • Goumans MJ et al (2003) Activin receptorlike kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK-5 signaling. Mol Cell 12(4):817-828
    • (2003) Mol Cell , vol.12 , Issue.4 , pp. 817-828
    • Goumans, M.J.1
  • 113
    • 84863280800 scopus 로고    scopus 로고
    • BMP type-II receptor defi - ciency confers resistance to growth inhibition by TGF-beta in pulmonary artery smooth muscle cells: Role of proinfl ammatory cytokines
    • Davies RJ et al (2012) BMP type-II receptor defi - ciency confers resistance to growth inhibition by TGF-beta in pulmonary artery smooth muscle cells: Role of proinfl ammatory cytokines. Am J Physiol Lung Cell Mol Physiol 302(6):L604-L615
    • (2012) Am J Physiol Lung Cell Mol Physiol , vol.302 , Issue.6
    • Davies, R.J.1
  • 114
    • 2342486700 scopus 로고    scopus 로고
    • Pulmonary hypertension in transgenic mice expressing a dominant-negative BMPRII gene in smooth muscle
    • West J et al (2004) Pulmonary hypertension in transgenic mice expressing a dominant-negative BMPRII gene in smooth muscle. Circ Res 94(8):1109-1114
    • (2004) Circ Res , vol.94 , Issue.8 , pp. 1109-1114
    • West, J.1
  • 115
    • 0034625342 scopus 로고    scopus 로고
    • BMP2-induced apoptosis is mediated by activation of the TAK1-p38 kinase pathway that is negatively regulated by Smad6
    • Kimura N et al (2000) BMP2-induced apoptosis is mediated by activation of the TAK1-p38 kinase pathway that is negatively regulated by Smad6. J Biol Chem 275(23):17647-17652
    • (2000) J Biol Chem , vol.275 , Issue.23 , pp. 17647-17652
    • Kimura, N.1
  • 116
    • 0035797556 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    • Trembath RC et al (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. New Engl J Med 345(5):325-334
    • (2001) New Engl J Med , vol.345 , Issue.5 , pp. 325-334
    • Trembath, R.C.1
  • 117
    • 36949015426 scopus 로고    scopus 로고
    • The type-III TGF-beta receptor signals through both Smad3 and the p38 MAP kinase pathways to contribute to inhibition of cell proliferation
    • You HJ et al (2007) The type-III TGF-beta receptor signals through both Smad3 and the p38 MAP kinase pathways to contribute to inhibition of cell proliferation. Carcinogenesis 28(12):2491-2500
    • (2007) Carcinogenesis , vol.28 , Issue.12 , pp. 2491-2500
    • You, H.J.1
  • 118
    • 79960364782 scopus 로고    scopus 로고
    • Exploring anti- TGF- beta therapies in cancer and fi brosis
    • Hawinkels LJ, Ten Dijke P (2011) Exploring anti- TGF- beta therapies in cancer and fi brosis. Growth Factors 29(4):140-152
    • (2011) Growth Factors , vol.29 , Issue.4 , pp. 140-152
    • Hawinkels, L.J.1    Ten Dijke, P.2
  • 119
    • 50949097435 scopus 로고    scopus 로고
    • Thrombospondin-1 and transforming growth factor beta are pro-infl ammatory molecules in rheumatoid arthritis
    • Rico MC et al (2008) Thrombospondin-1 and transforming growth factor beta are pro-infl ammatory molecules in rheumatoid arthritis. Transl Res 152(2):95-98
    • (2008) Transl Res , vol.152 , Issue.2 , pp. 95-98
    • Rico, M.C.1
  • 120
    • 77952924625 scopus 로고    scopus 로고
    • The axis of thrombospondin-1, transforming growth factor beta and connective tissue growth factor: An emerging therapeutic target in rheumatoid arthritis
    • Rico MC et al (2010) The axis of thrombospondin-1, transforming growth factor beta and connective tissue growth factor: An emerging therapeutic target in rheumatoid arthritis. Curr Vasc Pharmacol 8(3):338-343
    • (2010) Curr Vasc Pharmacol , vol.8 , Issue.3 , pp. 338-343
    • Rico, M.C.1
  • 121
    • 15944387363 scopus 로고    scopus 로고
    • Transforming growth factor-beta-induced regulatory T cells referee infl ammatory and autoimmune diseases
    • Wahl SM, Chen W (2005) Transforming growth factor-beta-induced regulatory T cells referee infl ammatory and autoimmune diseases. Arthritis Res Ther 7(2):62-68
    • (2005) Arthritis Res Ther , vol.7 , Issue.2 , pp. 62-68
    • Wahl, S.M.1    Chen, W.2
  • 122
    • 0032030620 scopus 로고    scopus 로고
    • Decreased production of TGFbeta by lymphocytes from patients with systemic lupus erythematosus
    • Ohtsuka K et al (1998) Decreased production of TGFbeta by lymphocytes from patients with systemic lupus erythematosus. J Immunol 160(5):2539-2545
    • (1998) J Immunol , vol.160 , Issue.5 , pp. 2539-2545
    • Ohtsuka, K.1
  • 123
    • 0038146960 scopus 로고    scopus 로고
    • Immunopathology and the gene therapy of lupus
    • Mageed RA, Prud'homme GJ (2003) Immunopathology and the gene therapy of lupus. Gene Ther 10(10):861-874
    • (2003) Gene Ther , vol.10 , Issue.10 , pp. 861-874
    • Mageed, R.A.1    Prud'homme, G.J.2
  • 124
    • 77950923685 scopus 로고    scopus 로고
    • 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 121(13):e266-e369
    • (2010) Circulation , vol.121 , Issue.13
    • Hiratzka, L.F.1
  • 125
    • 0032709270 scopus 로고    scopus 로고
    • Developing surgical intervention criteria for thoracic aortic aneurysms
    • Coady MA, Rizzo JA, Elefteriades JA (1999) Developing surgical intervention criteria for thoracic aortic aneurysms. Cardiol Clin 17(4):827-839
    • (1999) Cardiol Clin , vol.17 , Issue.4 , pp. 827-839
    • Coady, M.A.1    Rizzo, J.A.2    Elefteriades, J.A.3
  • 126
    • 0033000603 scopus 로고    scopus 로고
    • Surgical intervention criteria for thoracic aortic aneurysms: A study of growth rates and complications
    • 1922-1926, discussion
    • Coady MA et al (1999) Surgical intervention criteria for thoracic aortic aneurysms: A study of growth rates and complications. Ann Thorac Surg 67(6):1922-1926, discussion 1953-1958
    • (1999) Ann Thorac Surg , vol.67 , Issue.6 , pp. 1953-1958
    • Coady, M.A.1
  • 127
    • 0036840603 scopus 로고    scopus 로고
    • Natural history of thoracic aortic aneurysms: Indications for surgery, and surgical versus nonsurgical risks
    • S1877-S1880, discussion
    • Elefteriades JA (2002) Natural history of thoracic aortic aneurysms: Indications for surgery, and surgical versus nonsurgical risks. Ann Thorac Surg 74(5):S1877-S1880, discussion S1892-S1898
    • (2002) Ann Thorac Surg , vol.74 , Issue.5
    • Elefteriades, J.A.1
  • 128
    • 0031968175 scopus 로고    scopus 로고
    • Predictive factors for rupture of thoracoabdominal aortic aneurysm
    • Lobato AC, Puech-Leao P (1998) Predictive factors for rupture of thoracoabdominal aortic aneurysm. J Vasc Surg 27(3):446-453
    • (1998) J Vasc Surg , vol.27 , Issue.3 , pp. 446-453
    • Lobato, A.C.1    Puech-Leao, P.2
  • 129
    • 0024469827 scopus 로고
    • Appraisal of adjuncts to prevent acute renal failure after surgery on the thoracic or thoracoabdominal aorta
    • Svensson LG et al (1989) Appraisal of adjuncts to prevent acute renal failure after surgery on the thoracic or thoracoabdominal aorta. J Vasc Surg 10(3):230-239
    • (1989) J Vasc Surg , vol.10 , Issue.3 , pp. 230-239
    • Svensson, L.G.1
  • 130
    • 0027399638 scopus 로고
    • Experience with 1509 patients undergoing thoracoabdominal aortic operations
    • 357-368, discussion
    • Svensson LG et al (1993) Experience with 1509 patients undergoing thoracoabdominal aortic operations. J Vasc Surg 17(2):357-368, discussion 368-370
    • (1993) J Vasc Surg , vol.17 , Issue.2 , pp. 368-370
    • Svensson, L.G.1
  • 131
    • 33746829275 scopus 로고    scopus 로고
    • Transforming growth factor-betas and vascular disorders
    • Bobik A (2006) Transforming growth factor-betas and vascular disorders. Arterioscler Thromb Vasc Biol 26(8):1712-1720
    • (2006) Arterioscler Thromb Vasc Biol , vol.26 , Issue.8 , pp. 1712-1720
    • Bobik, A.1
  • 132
    • 33747178982 scopus 로고    scopus 로고
    • Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome
    • 1 Suppl
    • Ikonomidis JS et al (2006) Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Circulation 114(1 Suppl):I365-I370
    • (2006) Circulation , vol.114
    • Ikonomidis, J.S.1
  • 133
    • 33746265817 scopus 로고    scopus 로고
    • Transforming growth factor- beta receptor type 1 (TGFbetaRI) kinase activity but not p38 activation is required for TGFbetaRI-induced myofi broblast differentiation and profi brotic gene expression
    • Kapoun AM et al (2006) Transforming growth factor- beta receptor type 1 (TGFbetaRI) kinase activity but not p38 activation is required for TGFbetaRI-induced myofi broblast differentiation and profi brotic gene expression. Mol Pharmacol 70(2):518-531
    • (2006) Mol Pharmacol , vol.70 , Issue.2 , pp. 518-531
    • Kapoun, A.M.1
  • 134
    • 33645579104 scopus 로고    scopus 로고
    • Role of extracellular signalregulated kinase, p38 kinase, and activator protein-1 in transforming growth factor-beta1-induced alpha smooth muscle actin expression in human fetal lung fi broblasts in vitro
    • Hu Y et al (2006) Role of extracellular signalregulated kinase, p38 kinase, and activator protein-1 in transforming growth factor-beta1-induced alpha smooth muscle actin expression in human fetal lung fi broblasts in vitro. Lung 184(1):33-42
    • (2006) Lung , vol.184 , Issue.1 , pp. 33-42
    • Hu, Y.1
  • 135
    • 53749089478 scopus 로고    scopus 로고
    • Contemporary analysis of descending thoracic and thoracoabdominal aneurysm repair: A comparison of endovascular and open techniques
    • Greenberg RK et al (2008) Contemporary analysis of descending thoracic and thoracoabdominal aneurysm repair: A comparison of endovascular and open techniques. Circulation 118(8):808-817
    • (2008) Circulation , vol.118 , Issue.8 , pp. 808-817
    • Greenberg, R.K.1
  • 136
    • 42749090012 scopus 로고    scopus 로고
    • Five-year results of endovascular treatment with the Gore TAG device compared with open repair of thoracic aortic aneurysms
    • Makaroun MS et al (2008) Five-year results of endovascular treatment with the Gore TAG device compared with open repair of thoracic aortic aneurysms. J Vasc Surg 47(5):912-918
    • (2008) J Vasc Surg , vol.47 , Issue.5 , pp. 912-918
    • Makaroun, M.S.1
  • 137
    • 17444380829 scopus 로고    scopus 로고
    • Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome
    • Yetman AT, Bornemeier RA, McCrindle BW (2005) Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome. Am J Cardiol 95(9):1125-1127
    • (2005) Am J Cardiol , vol.95 , Issue.9 , pp. 1125-1127
    • Yetman, A.T.1    Bornemeier, R.A.2    McCrindle, B.W.3
  • 138
    • 0033808963 scopus 로고    scopus 로고
    • Angiotensin II regulates the cell cycle of vascular smooth muscle cells from SHR
    • Kubo A et al (2000) Angiotensin II regulates the cell cycle of vascular smooth muscle cells from SHR. Am J Hypertens 13(10):1117-1124
    • (2000) Am J Hypertens , vol.13 , Issue.10 , pp. 1117-1124
    • Kubo, A.1
  • 139
    • 33645672459 scopus 로고    scopus 로고
    • Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
    • Habashi JP et al (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312(5770):117-121
    • (2006) Science , vol.312 , Issue.5770 , pp. 117-121
    • Habashi, J.P.1
  • 140
    • 79954579275 scopus 로고    scopus 로고
    • Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism
    • Habashi JP et al (2011) Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science 332(6027):361-365
    • (2011) Science , vol.332 , Issue.6027 , pp. 361-365
    • Habashi, J.P.1
  • 141
    • 81855208913 scopus 로고    scopus 로고
    • Mitral valve disease in Marfan syndrome and related disorders
    • Judge DP et al (2011) Mitral valve disease in Marfan syndrome and related disorders. J Cardiovasc Transl Res 4(6):741-747
    • (2011) J Cardiovasc Transl Res , vol.4 , Issue.6 , pp. 741-747
    • Judge, D.P.1
  • 142
    • 79954625123 scopus 로고    scopus 로고
    • Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice
    • Holm TM et al (2011) Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 332(6027):358-361
    • (2011) Science , vol.332 , Issue.6027 , pp. 358-361
    • Holm, T.M.1
  • 143
    • 77952625340 scopus 로고    scopus 로고
    • Genetic testing in aortic aneurysm disease: PRO
    • Milewicz DM, Carlson AA, Regalado ES (2010) Genetic testing in aortic aneurysm disease: PRO. Cardiol Clin 28(2):191-197
    • (2010) Cardiol Clin , vol.28 , Issue.2 , pp. 191-197
    • Milewicz, D.M.1    Carlson, A.A.2    Regalado, E.S.3
  • 144
    • 0030020322 scopus 로고    scopus 로고
    • Mutation in fi brillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
    • Sood S et al (1996) Mutation in fi brillin-1 and the Marfanoid- craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 12(2):209-211
    • (1996) Nat Genet , vol.12 , Issue.2 , pp. 209-211
    • Sood, S.1
  • 145
    • 30144438033 scopus 로고    scopus 로고
    • Molecular pathology of Shprintzen-Goldberg syndrome
    • 104-108, author reply
    • Kosaki K et al (2006) Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 140(1):104-108, author reply 109-110
    • (2006) Am J Med Genet A , vol.140 , Issue.1 , pp. 109-110
    • Kosaki, K.1
  • 146
    • 40349113434 scopus 로고    scopus 로고
    • Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2
    • van Steensel MA et al (2008) Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. Exp Dermatol 17(4):362-365
    • (2008) Exp Dermatol , vol.17 , Issue.4 , pp. 362-365
    • Van Steensel, M.A.1
  • 147
    • 55649102579 scopus 로고    scopus 로고
    • Identifi cation of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype- Investigations in 457 patients with Marfan syndrome type-I and II Loeys-Dietz syndrome and related disorders
    • Stheneur C et al (2008) Identifi cation of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype- Investigations in 457 patients with Marfan syndrome type-I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat 29(11):E284-E295
    • (2008) Hum Mutat , vol.29 , Issue.11
    • Stheneur, C.1
  • 148
    • 27944488343 scopus 로고    scopus 로고
    • Clinical strategy in hereditary hemorrhagic telangiectasia
    • Kuhnel TS et al (2005) Clinical strategy in hereditary hemorrhagic telangiectasia. Am J Rhinol 19(5):508-513
    • (2005) Am J Rhinol , vol.19 , Issue.5 , pp. 508-513
    • Kuhnel, T.S.1
  • 149
    • 33749588150 scopus 로고    scopus 로고
    • Liver involvement in hereditary hemorrhagic telangiectasia: Consensus recommendations
    • Buscarini E et al (2006) Liver involvement in hereditary hemorrhagic telangiectasia: Consensus recommendations. Liver Int 26(9):1040-1046
    • (2006) Liver Int , vol.26 , Issue.9 , pp. 1040-1046
    • Buscarini, E.1
  • 150
    • 24344507129 scopus 로고    scopus 로고
    • Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia
    • Cohen JH et al (2005) Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. Am J Med Genet A 137(2):153-160
    • (2005) Am J Med Genet A , vol.137 , Issue.2 , pp. 153-160
    • Cohen, J.H.1
  • 151
    • 33144462810 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease
    • Abdalla SA, Letarte M (2006) Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease. J Med Genet 43(2):97-110
    • (2006) J Med Genet , vol.43 , Issue.2 , pp. 97-110
    • Abdalla, S.A.1    Letarte, M.2
  • 152
    • 77957202041 scopus 로고    scopus 로고
    • Bone matrix to growth factors: Location, location, location
    • Rifkin DB, Todorovic V (2010) Bone matrix to growth factors: Location, location, location. J Cell Biol 190(6):949-951
    • (2010) J Cell Biol , vol.190 , Issue.6 , pp. 949-951
    • Rifkin, D.B.1    Todorovic, V.2
  • 153
    • 57749098804 scopus 로고    scopus 로고
    • Lysyl oxidase binds transforming growth factor-beta and regulates its signaling via amine oxidase activity
    • Atsawasuwan P et al (2008) Lysyl oxidase binds transforming growth factor-beta and regulates its signaling via amine oxidase activity. J Biol Chem 283(49):34229-34240
    • (2008) J Biol Chem , vol.283 , Issue.49 , pp. 34229-34240
    • Atsawasuwan, P.1
  • 154
    • 33646089201 scopus 로고    scopus 로고
    • Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGFbeta signaling pathway
    • Fernandez LA et al (2006) Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGFbeta signaling pathway. Clin Med Res 4(1):66-78
    • (2006) Clin Med Res , vol.4 , Issue.1 , pp. 66-78
    • Fernandez, L.A.1
  • 155
    • 27744567567 scopus 로고    scopus 로고
    • Heritable disorders predisposing to aortic dissection
    • Gleason TG (2005) Heritable disorders predisposing to aortic dissection. Semin Thorac Cardiovasc Surg 17(3):274-281
    • (2005) Semin Thorac Cardiovasc Surg , vol.17 , Issue.3 , pp. 274-281
    • Gleason, T.G.1
  • 156
    • 23044438103 scopus 로고    scopus 로고
    • Mutations in transforming growth factor-beta receptor type-II cause familial thoracic aortic aneurysms and dissections
    • Pannu H et al (2005) Mutations in transforming growth factor-beta receptor type-II cause familial thoracic aortic aneurysms and dissections. Circulation 112(4):513-520
    • (2005) Circulation , vol.112 , Issue.4 , pp. 513-520
    • Pannu, H.1
  • 157
    • 38149069602 scopus 로고    scopus 로고
    • Arterial tortuosity syndrome: Clinical and molecular fi ndings in 12 newly identifi ed families
    • Callewaert BL et al (2008) Arterial tortuosity syndrome: Clinical and molecular fi ndings in 12 newly identifi ed families. Hum Mutat 29(1):150-158
    • (2008) Hum Mutat , vol.29 , Issue.1 , pp. 150-158
    • Callewaert, B.L.1
  • 158
    • 84856009900 scopus 로고    scopus 로고
    • Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
    • van De Laar IM et al (2012) Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet 49(1):47-57
    • (2012) J Med Genet , vol.49 , Issue.1 , pp. 47-57
    • Van De Laar, I.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.