메뉴 건너뛰기




Volumn 52, Issue 1, 2007, Pages 1-12

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders

Author keywords

Familial thoracic aortic aneurysms and dissections; FBN1; Genetic heterogeneity; Loeys Dietz syndrome; Marfan syndrome; TGF signaling; TGFBR1; TGFBR2

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA;

EID: 33845882724     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0078-1     Document Type: Short Survey
Times cited : (126)

References (77)
  • 3
    • 3342957232 scopus 로고    scopus 로고
    • Unique and redundant roles of Smad3 in TGF-beta-mediated regulation of long bone development in organ culture
    • Alvarez J, Serra R (2004) Unique and redundant roles of Smad3 in TGF-beta-mediated regulation of long bone development in organ culture. Dev Dyn 230:685-699
    • (2004) Dev Dyn , vol.230 , pp. 685-699
    • Alvarez, J.1    Serra, R.2
  • 4
    • 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 116:217-224
    • (2003) J Cell Sci , vol.116 , pp. 217-224
    • Annes, J.P.1    Munger, J.S.2    Rifkin, D.B.3
  • 6
    • 13744265676 scopus 로고    scopus 로고
    • Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy
    • Biggin A, Holman K, Brett M, Bennetts B, Ades L (2004) Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 23:99
    • (2004) Hum Mutat , vol.23 , pp. 99
    • Biggin, A.1    Holman, K.2    Brett, M.3    Bennetts, B.4    Ades, L.5
  • 10
    • 0037216494 scopus 로고    scopus 로고
    • TGF beta/Smad signaling system and its pathologic correlates
    • Cohen MM Jr (2003) TGF beta/Smad signaling system and its pathologic correlates. Am J Med Genet A 116:1-10
    • (2003) Am J Med Genet A , vol.116 , pp. 1-10
    • Cohen Jr., M.M.1
  • 13
    • 0036893786 scopus 로고    scopus 로고
    • Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
    • Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH (2002) Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol 86:1359-1362
    • (2002) Br J Ophthalmol , vol.86 , pp. 1359-1362
    • Comeglio, P.1    Evans, A.L.2    Brice, G.3    Cooling, R.J.4    Child, A.H.5
  • 14
    • 0027257818 scopus 로고
    • Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5 end
    • Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY (1993) Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5 end. Genomics 17:476-484
    • (1993) Genomics , vol.17 , pp. 476-484
    • Corson, G.M.1    Chalberg, S.C.2    Dietz, H.C.3    Charbonneau, N.L.4    Sakai, L.Y.5
  • 16
    • 0042090396 scopus 로고    scopus 로고
    • Fibroblast-specific expression of a kinase-deficient type II transforming growth factor beta (TGFbeta) receptor leads to paradoxical activation of TGFbeta signaling pathways with fibrosis in transgenic mice
    • Denton CP, Zheng B, Evans LA, Shi-wen X, Ong VH, Fisher I, Lazaridis K, Abraham DJ, Black CM, de Crombrugghe B (2003) Fibroblast-specific expression of a kinase-deficient type II transforming growth factor beta (TGFbeta) receptor leads to paradoxical activation of TGFbeta signaling pathways with fibrosis in transgenic mice. J Biol Chem 278:25109-25119
    • (2003) J Biol Chem , vol.278 , pp. 25109-25119
    • Denton, C.P.1    Zheng, B.2    Evans, L.A.3    Shi-wen, X.4    Ong, V.H.5    Fisher, I.6    Lazaridis, K.7    Abraham, D.J.8    Black, C.M.9    De Crombrugghe, B.10
  • 17
    • 0034785348 scopus 로고    scopus 로고
    • TGF-beta signaling in tumor suppression and cancer progression
    • Derynck R, Akhurst RJ, Balmain A (2001) TGF-beta signaling in tumor suppression and cancer progression. Nat Genet 29:117-129
    • (2001) Nat Genet , vol.29 , pp. 117-129
    • Derynck, R.1    Akhurst, R.J.2    Balmain, A.3
  • 19
    • 0027261517 scopus 로고
    • Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
    • Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA (1993) Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17:468-475
    • (1993) Genomics , vol.17 , pp. 468-475
    • Dietz, H.C.1    McIntosh, I.2    Sakai, L.Y.3    Corson, G.M.4    Chalberg, S.C.5    Pyeritz, R.E.6    Francomano, C.A.7
  • 22
    • 0030000090 scopus 로고    scopus 로고
    • Solution structure of a pair of calcium-binding epidermal growth factor-like domains: Implications for the Marfan syndrome and other genetic disorders
    • Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA (1996) Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 85:597-605
    • (1996) Cell , vol.85 , pp. 597-605
    • Downing, A.K.1    Knott, V.2    Werner, J.M.3    Cardy, C.M.4    Campbell, I.D.5    Handford, P.A.6
  • 24
    • 0029001289 scopus 로고
    • A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection
    • Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H (1995) A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 56:1287-1296
    • (1995) Am J Hum Genet , vol.56 , pp. 1287-1296
    • Francke, U.1    Berg, M.A.2    Tynan, K.3    Brenn, T.4    Liu, W.5    Aoyama, T.6    Gasner, C.7    Miller, D.C.8    Furthmayr, H.9
  • 26
    • 0028158765 scopus 로고
    • Marfan syndrome or Marfan-like connective-tissue disorder
    • Gilchrist DM (1994) Marfan syndrome or Marfan-like connective-tissue disorder. Am J Hum Genet 54:553-554
    • (1994) Am J Hum Genet , vol.54 , pp. 553-554
    • Gilchrist, D.M.1
  • 29
    • 0036341187 scopus 로고    scopus 로고
    • Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice
    • Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P (2002) Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 39:589-593
    • (2002) J Med Genet , vol.39 , pp. 589-593
    • Halliday, D.J.1    Hutchinson, S.2    Lonie, L.3    Hurst, J.A.4    Firth, H.5    Handford, P.A.6    Wordsworth, P.7
  • 32
    • 0023025366 scopus 로고
    • Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix
    • Ignotz RA, Massague J (1986) Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem 261:4337-4345
    • (1986) J Biol Chem , vol.261 , pp. 4337-4345
    • Ignotz, R.A.1    Massague, J.2
  • 34
    • 0037470182 scopus 로고    scopus 로고
    • Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
    • Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W (2003) Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem 278:7718-7724
    • (2003) J Biol Chem , vol.278 , pp. 7718-7724
    • Janssens, K.1    Ten Dijke, P.2    Ralston, S.H.3    Bergmann, C.4    Van Hul, W.5
  • 35
    • 13444306158 scopus 로고    scopus 로고
    • Toward an understanding of dural ectasia: A light microscopy study in a murine model of Marfan syndrome
    • Jones KB, Myers L, Judge DP, Kirby PA, Dietz HC, Sponseller PD (2005) Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine 30:291-293
    • (2005) Spine , vol.30 , pp. 291-293
    • Jones, K.B.1    Myers, L.2    Judge, D.P.3    Kirby, P.A.4    Dietz, H.C.5    Sponseller, P.D.6
  • 37
    • 0037370510 scopus 로고    scopus 로고
    • Fibrillin controls TGF-beta activation
    • Kaartinen V, Warburton D (2003) Fibrillin controls TGF-beta activation. Nat Genet 33:331-332
    • (2003) Nat Genet , vol.33 , pp. 331-332
    • Kaartinen, V.1    Warburton, D.2
  • 38
    • 0028335388 scopus 로고
    • Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
    • Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L (1994) Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 6:64-69
    • (1994) Nat Genet , vol.6 , pp. 64-69
    • Kainulainen, K.1    Karttunen, L.2    Puhakka, L.3    Sakai, L.4    Peltonen, L.5
  • 40
    • 28644435495 scopus 로고    scopus 로고
    • Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome
    • Ki CS, Jin DK, Chang SH, Kim JE, Kim JW, Park BK, Choi JH, Park IS, Yoo HW (2005) Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. Clin Genet 68:561-563
    • (2005) Clin Genet , vol.68 , pp. 561-563
    • Ki, C.S.1    Jin, D.K.2    Chang, S.H.3    Kim, J.E.4    Kim, J.W.5    Park, B.K.6    Choi, J.H.7    Park, I.S.8    Yoo, H.W.9
  • 44
    • 33845898971 scopus 로고    scopus 로고
    • Clinical findings in a large family with a predisposition to aortic dilatation and dissection and an R460H mutation in TGFBR2
    • Law C, Bunyan D, Castle B, Day L, Keeton B, Simpson I, Westwood G (2005) Clinical findings in a large family with a predisposition to aortic dilatation and dissection and an R460H mutation in TGFBR2. J Med Genet 42 [Suppl 1]:S31
    • (2005) J Med Genet , vol.42 , Issue.SUPPL. 1
    • Law, C.1    Bunyan, D.2    Castle, B.3    Day, L.4    Keeton, B.5    Simpson, I.6    Westwood, G.7
  • 47
    • 0035851312 scopus 로고    scopus 로고
    • Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
    • Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A (2001) Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 161:2447-2454
    • (2001) Arch Intern Med , vol.161 , pp. 2447-2454
    • Loeys, B.1    Nuytinck, L.2    Delvaux, I.3    De Bie, S.4    De Paepe, A.5
  • 51
    • 0034644472 scopus 로고    scopus 로고
    • TGFbeta signaling in growth control, cancer, and heritable disorders
    • Massague J, Blain SW, Lo RS (2000) TGFbeta signaling in growth control, cancer, and heritable disorders. Cell 103:295-309
    • (2000) Cell , vol.103 , pp. 295-309
    • Massague, J.1    Blain, S.W.2    Lo, R.S.3
  • 52
    • 33747016789 scopus 로고    scopus 로고
    • Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
    • Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berer W, Steinmann B (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat 27:760-769
    • (2006) Hum Mutat , vol.27 , pp. 760-769
    • Matyas, G.1    Arnold, E.2    Carrel, T.3    Baumgartner, D.4    Boileau, C.5    Berer, W.6    Steinmann, B.7
  • 61
    • 11144328149 scopus 로고    scopus 로고
    • Fibrillin microfibrils: Multipurpose extracellular networks in organismal physiology
    • Ramirez F, Sakai LY, Dietz HC, Rifkin DB (2004) Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiol Genomics 19:151-154
    • (2004) Physiol Genomics , vol.19 , pp. 151-154
    • Ramirez, F.1    Sakai, L.Y.2    Dietz, H.C.3    Rifkin, D.B.4
  • 62
    • 14844302670 scopus 로고    scopus 로고
    • Latent transforming growth factor-beta (TGF-beta) binding proteins: Orchestrators of TGF-beta availability
    • Rifkin DB (2005) Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability. J Biol Chem 280:7409-7412
    • (2005) J Biol Chem , vol.280 , pp. 7409-7412
    • Rifkin, D.B.1
  • 63
    • 0034017021 scopus 로고    scopus 로고
    • The molecular genetics of Marfan syndrome and related microfibrillopathies
    • Robinson PN, Godfrey M (2000) The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 37:9-25
    • (2000) J Med Genet , vol.37 , pp. 9-25
    • Robinson, P.N.1    Godfrey, M.2
  • 65
    • 30144432503 scopus 로고    scopus 로고
    • Response to Kosaki et al. "Molecular pathology of Shprintzen-Goldberg syndrome"
    • Robinson P, Neumann L, Tinschert S (2006) Response to Kosaki et al. "Molecular pathology of Shprintzen-Goldberg syndrome". Am J Med Genet 140A:109-110
    • (2006) Am J Med Genet , vol.140 A , pp. 109-110
    • Robinson, P.1    Neumann, L.2    Tinschert, S.3
  • 66
    • 0036831595 scopus 로고    scopus 로고
    • Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations
    • Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (2002) Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum Mutat 20:406-407
    • (2002) Hum Mutat , vol.20 , pp. 406-407
    • Rommel, K.1    Karck, M.2    Haverich, A.3    Schmidtke, J.4    Arslan-Kirchner, M.5
  • 69
    • 0036071270 scopus 로고    scopus 로고
    • Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes
    • Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U (2002) Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet 71:223-237
    • (2002) Am J Hum Genet , vol.71 , pp. 223-237
    • Schrijver, I.1    Liu, W.2    Odom, R.3    Brenn, T.4    Oefner, P.5    Furthmayr, H.6    Francke, U.7
  • 70
    • 0033577851 scopus 로고    scopus 로고
    • Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor beta (TGF-beta) on endochondral bone formation
    • Serra R, Karaplis A, Sohn P (1999) Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor beta (TGF-beta) on endochondral bone formation. J Cell Biol 145:783-794
    • (1999) J Cell Biol , vol.145 , pp. 783-794
    • Serra, R.1    Karaplis, A.2    Sohn, P.3
  • 72
    • 0030020322 scopus 로고    scopus 로고
    • Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
    • Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC (1996) Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 12:209-211
    • (1996) Nat Genet , vol.12 , pp. 209-211
    • Sood, S.1    Eldadah, Z.A.2    Krause, W.L.3    McIntosh, I.4    Dietz, H.C.5
  • 73
    • 0029944441 scopus 로고    scopus 로고
    • Signaling via hetero-oligomeric complexes of type I and type II serine/threonine kinase receptors
    • ten Dijke P, Miyazono K, Heldin CH (1996) Signaling via hetero-oligomeric complexes of type I and type II serine/threonine kinase receptors. Curr Opin Cell Biol 8:139-145
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 139-145
    • Ten Dijke, P.1    Miyazono, K.2    Heldin, C.H.3
  • 76
    • 0029022221 scopus 로고
    • GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex
    • Wieser R, Wrana JL, Massague J (1995) GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex. EMBO J 14:2199-2208
    • (1995) EMBO J , vol.14 , pp. 2199-2208
    • Wieser, R.1    Wrana, J.L.2    Massague, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.