-
1
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, et al. (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352: 337-339. (Pubitemid 21912353)
-
(1991)
Nature
, vol.352
, Issue.6333
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
Puffenberger, E.G.7
Hamosh, A.8
Nanthakumar, E.J.9
Curristin, S.M.10
Stetten, G.11
Meyers, D.A.12
Francomano, C.A.13
-
2
-
-
0023002893
-
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
-
DOI 10.1083/jcb.103.6.2499
-
Sakai LY, Keene DR, Engvall E (1986) Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 103: 2499-2509. (Pubitemid 17216674)
-
(1986)
Journal of Cell Biology
, vol.103
, Issue.6 I
, pp. 2499-2509
-
-
Sakai, L.Y.1
Keene, D.R.2
Engvall, E.3
-
3
-
-
0028852659
-
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
-
Dietz HC, Pyeritz RE (1995) Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4 Spec No: 1799-1809.
-
(1995)
Hum Mol Genet
, vol.4
, Issue.SPEC NO
, pp. 1799-1809
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
4
-
-
0029665565
-
Fibrillln mutations in Marfan syndrome and related phenotypes
-
Ramirez F (1996) Fibrillln mutations in Marfan syndrome and related phenotypes. Curr Opin Genet Dev 6: 309-315.
-
(1996)
Curr Opin Genet Dev
, vol.6
, pp. 309-315
-
-
Ramirez, F.1
-
5
-
-
0037373277
-
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
-
DOI 10.1038/ng1116
-
Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, et al. (2003) Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33: 407-411. (Pubitemid 36278859)
-
(2003)
Nature Genetics
, vol.33
, Issue.3
, pp. 407-411
-
-
Neptune, E.R.1
Frischmeyer, P.A.2
Arking, D.E.3
Myers, L.4
Bunton, T.E.5
Gayraud, B.6
Ramirez, F.7
Sakai, L.Y.8
Dietz, H.C.9
-
6
-
-
33846946114
-
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
-
Cohn RD, van Erp C, Habashi JP, Soleimani AA, Klein EC, et al. (2007) Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 13: 204-210.
-
(2007)
Nat Med
, vol.13
, pp. 204-210
-
-
Cohn, R.D.1
Van Erp, C.2
Habashi, J.P.3
Soleimani, A.A.4
Klein, E.C.5
-
7
-
-
33645672459
-
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
-
Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, et al. (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312: 117-121.
-
(2006)
Science
, vol.312
, pp. 117-121
-
-
Habashi, J.P.1
Judge, D.P.2
Holm, T.M.3
Cohn, R.D.4
Loeys, B.L.5
-
8
-
-
15244363856
-
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
-
DOI 10.1172/JCI200422715
-
Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, et al. (2004) TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 114: 1586-1592. (Pubitemid 40385549)
-
(2004)
Journal of Clinical Investigation
, vol.114
, Issue.11
, pp. 1586-1592
-
-
Ng, C.M.1
Cheng, A.2
Myers, L.A.3
Martinez-Murillo, F.4
Jie, C.5
Bedja, D.6
Gabrielson, K.L.7
Hausladen, J.M.W.8
Mecham, R.P.9
Judge, D.P.10
Dietz, H.C.11
-
9
-
-
66849131058
-
Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway
-
Gomez D, Al Haj Zen A, Borges LF, Philippe M, Gutierrez PS, et al. (2009) Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J Pathol 218: 131-142.
-
(2009)
J Pathol
, vol.218
, pp. 131-142
-
-
Gomez, D.1
Al Haj Zen, A.2
Borges, L.F.3
Philippe, M.4
Gutierrez, P.S.5
-
10
-
-
80053372171
-
Transforming growth factor-beta signaling pathway in Marfan's syndrome: A preliminary histopathological study
-
Yuan SM, Ma HH, Zhang RS, Jing H (2011) Transforming growth factor-beta signaling pathway in Marfan's syndrome: a preliminary histopathological study. Vasa 40: 369-374.
-
(2011)
Vasa
, vol.40
, pp. 369-374
-
-
Yuan, S.M.1
Ma, H.H.2
Zhang, R.S.3
Jing, H.4
-
11
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
DOI 10.1038/ng1511
-
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37: 275-281. (Pubitemid 41716254)
-
(2005)
Nature Genetics
, vol.37
, Issue.3
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
Judge, D.P.4
Podowski, M.5
Holm, T.6
Meyers, J.7
Leitch, C.C.8
Katsanis, N.9
Sharifi, N.10
Xu, F.L.11
Myers, L.A.12
Spevak, P.J.13
Cameron, D.E.14
De Backer, J.15
Hellemans, J.16
Chen, Y.17
Davis, E.C.18
Webb, C.L.19
Kress, W.20
Coucke, P.21
Rifkin, D.B.22
De Paepe, A.M.23
Dietz, H.C.24
more..
-
12
-
-
73949113485
-
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
-
Attias D, Stheneur C, Roy C, Collod-Beroud G, Detaint 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: 2541-2549.
-
(2009)
Circulation
, vol.120
, pp. 2541-2549
-
-
Attias, D.1
Stheneur, C.2
Roy, C.3
Collod-Beroud, G.4
Detaint, D.5
-
13
-
-
78049287216
-
The Loeys-Dietz syndrome: An update for the clinician
-
Van Hemelrijk CR, M.; Loeys, B. (2010) The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol 25: 6.
-
(2010)
Curr Opin Cardiol
, vol.25
, pp. 6
-
-
Van Hemelrijk, C.R.M.1
Loeys, B.2
-
14
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
DOI 10.1056/NEJMoa055695
-
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355: 788-798. (Pubitemid 44285584)
-
(2006)
New England Journal of Medicine
, vol.355
, Issue.8
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
Callewaert, B.L.4
Thomas, G.H.5
Pannu, H.6
De Backer, J.F.7
Oswald, G.L.8
Symoens, S.9
Manouvrier, S.10
Roberts, A.E.11
Faravelli, F.12
Alba, G.M.13
Pyeritz, R.E.14
Milewicz, D.M.15
Coucke, P.J.16
Cameron, D.E.17
Braverman, A.C.18
Byers, P.H.19
De Paepe, A.M.20
Dietz, H.C.21
more..
-
16
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
DOI 10.1038/ng1392
-
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, et al. (2004) Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36: 855-860. (Pubitemid 39014103)
-
(2004)
Nature Genetics
, vol.36
, Issue.8
, pp. 855-860
-
-
Mizuguchi, T.1
Collod-Beroud, G.2
Akiyama, T.3
Abifadel, M.4
Harada, N.5
Morisaki, T.6
Allard, D.7
Varret, M.8
Claustres, M.9
Morisaki, H.10
Ihara, M.11
Kinoshita, A.12
Yoshiura, K.-I.13
Junien, C.14
Kajii, T.15
Jondeau, G.16
Ohta, T.17
Kishino, T.18
Furukawa, Y.19
Nakamura, Y.20
Niikawa, N.21
Boileau, C.22
Matsumoto, N.23
more..
-
17
-
-
38349008641
-
Compensatory signalling induced in the yolk sac vasculature by deletion of TGFbeta receptors in mice
-
Carvalho RL, Itoh F, Goumans MJ, Lebrin F, Kato M, et al. (2007) Compensatory signalling induced in the yolk sac vasculature by deletion of TGFbeta receptors in mice. J Cell Sci 120: 4269-4277.
-
(2007)
J Cell Sci
, vol.120
, pp. 4269-4277
-
-
Carvalho, R.L.1
Itoh, F.2
Goumans, M.J.3
Lebrin, F.4
Kato, M.5
-
18
-
-
65449146692
-
Absence of TGFbeta signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm
-
Choudhary B, Zhou J, Li P, Thomas S, Kaartinen V, et al. (2009) Absence of TGFbeta signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm. Genesis 47: 115-121.
-
(2009)
Genesis
, vol.47
, pp. 115-121
-
-
Choudhary, B.1
Zhou, J.2
Li, P.3
Thomas, S.4
Kaartinen, V.5
-
19
-
-
17744397294
-
Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice
-
DOI 10.1093/emboj/20.7.1663
-
Larsson J, Goumans MJ, Sjostrand LJ, van Rooijen MA, Ward D, et al. (2001) Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice. EMBO J 20: 1663-1673. (Pubitemid 32299403)
-
(2001)
EMBO Journal
, vol.20
, Issue.7
, pp. 1663-1673
-
-
Larsson, J.1
Goumans, M.-J.2
Sjostrand, L.J.3
Van Rooijen, M.A.4
Ward, D.5
Leveen, P.6
Xu, X.7
Ten, D.P.8
Mummery, C.L.9
Karlsson, S.10
-
20
-
-
0030579203
-
TGF-beta receptor type II deficiency results in defects of yolk sac hematopoiesis and vasculogenesis
-
DOI 10.1006/dbio.1996.0259
-
Oshima M, Oshima H, Taketo MM (1996) TGF-beta receptor type II deficiency results in defects of yolk sac hematopoiesis and vasculogenesis. Dev Biol 179: 297-302. (Pubitemid 26363265)
-
(1996)
Developmental Biology
, vol.179
, Issue.1
, pp. 297-302
-
-
Oshima, M.1
Oshima, H.2
Taketo, M.M.3
-
21
-
-
30044443609
-
Cardiovascular malformations with normal smooth muscle differentiation in neural crest-specific type II TGFbeta receptor (Tgfbr2) mutant mice
-
DOI 10.1016/j.ydbio.2005.11.008, PII S0012160605007827
-
Choudhary B, Ito Y, Makita T, Sasaki T, Chai Y, et al. (2006) Cardiovascular malformations with normal smooth muscle differentiation in neural crest-specific type II TGFbeta receptor (Tgfbr2) mutant mice. Dev Biol 289: 420-429. (Pubitemid 43049944)
-
(2006)
Developmental Biology
, vol.289
, Issue.2
, pp. 420-429
-
-
Choudhary, B.1
Ito, Y.2
Makita, T.3
Sasaki, T.4
Chai, Y.5
Sucov, H.M.6
-
22
-
-
33750825092
-
Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects
-
Wang J, Nagy A, Larsson J, Dudas M, Sucov HM, et al. (2006) Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects. BMC Dev Biol 6: 51.
-
(2006)
BMC Dev Biol
, vol.6
, pp. 51
-
-
Wang, J.1
Nagy, A.2
Larsson, J.3
Dudas, M.4
Sucov, H.M.5
-
23
-
-
0035810984
-
2-knockout mice
-
Bartram U, Molin DG, Wisse LJ, Mohamad A, Sanford LP, et al. (2001) Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apoptosis in TGF-beta(2)-knockout mice. Circulation 103: 2745-2752. (Pubitemid 32538792)
-
(2001)
Circulation
, vol.103
, Issue.22
, pp. 2745-2752
-
-
Bartram, U.1
Molin, D.G.M.2
Wisse, L.J.3
Mohamad, A.4
Sanford, L.P.5
Doetschman, T.6
Speer, C.P.7
Poelmann, R.E.8
Gittenberger-de, G.A.C.9
-
24
-
-
84864415173
-
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
-
Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, et al. (2012) Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet.
-
(2012)
Nat Genet
-
-
Lindsay, M.E.1
Schepers, D.2
Bolar, N.A.3
Doyle, J.J.4
Gallo, E.5
-
25
-
-
27644512860
-
Efficient and fast targeted production of murine models based on ENU mutagenesis
-
DOI 10.1007/s00335-004-3028-2
-
Augustin M, Sedlmeier R, Peters T, Huffstadt U, Kochmann E, et al. (2005) Efficient and fast targeted production of murine models based on ENU mutagenesis. Mamm Genome 16: 405-413. (Pubitemid 41557500)
-
(2005)
Mammalian Genome
, vol.16
, Issue.6
, pp. 405-413
-
-
Augustin, M.1
Sedlmeier, R.2
Peters, T.3
Huffstadt, U.4
Kochmann, E.5
Simon, D.6
Schoniger, M.7
Garke-Mayerthaler, S.8
Laufs, J.9
Mayhaus, M.10
Franke, S.11
Klose, M.12
Graupner, A.13
Kurzmann, M.14
Zinser, C.15
Wolf, A.16
Voelkel, M.17
Kellner, M.18
Kilian, M.19
Seelig, S.20
Koppius, A.21
Teubner, A.22
Korthaus, D.23
Nehls, M.24
Wattler, S.25
more..
-
26
-
-
77957363988
-
Multimodality imaging reveals a gradual increase in matrix metalloproteinase activity at aneurysmal lesions in live fibulin-4 mice
-
Kaijzel EL, van Heijningen PM, Wielopolski PA, Vermeij M, Koning GA, et al. (2010) Multimodality imaging reveals a gradual increase in matrix metalloproteinase activity at aneurysmal lesions in live fibulin-4 mice. Circ Cardiovasc Imaging 3: 567-577.
-
(2010)
Circ Cardiovasc Imaging
, vol.3
, pp. 567-577
-
-
Kaijzel, E.L.1
Van Heijningen, P.M.2
Wielopolski, P.A.3
Vermeij, M.4
Koning, G.A.5
-
27
-
-
0034954524
-
In vivo molecular target assessment of matrix metalloproteinase inhibition
-
DOI 10.1038/89126
-
Bremer C, Tung CH, Weissleder R (2001) In vivo molecular target assessment of matrix metalloproteinase inhibition. Nat Med 7: 743-748. (Pubitemid 32588033)
-
(2001)
Nature Medicine
, vol.7
, Issue.6
, pp. 743-748
-
-
Bremer, C.1
Tung, C.-H.2
Weissleder, R.3
-
28
-
-
52049109863
-
Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
-
Callewaert BL, Loeys BL, Casteleyn C, Willaert A, Dewint P, et al. (2008) Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions. Genesis 46: 385-389.
-
(2008)
Genesis
, vol.46
, pp. 385-389
-
-
Callewaert, B.L.1
Loeys, B.L.2
Casteleyn, C.3
Willaert, A.4
Dewint, P.5
-
29
-
-
0035545304
-
Isolation of vascular smooth muscle cells from a single murine aorta
-
DOI 10.1023/A:1016357510143
-
Ray JL, Leach R, Herbert JM, Benson M (2001) Isolation of vascular smooth muscle cells from a single murine aorta. Methods Cell Sci 23: 185-188. (Pubitemid 34863290)
-
(2001)
Methods in Cell Science
, vol.23
, Issue.4
, pp. 185-188
-
-
Lynn, R.J.1
Leach, R.2
Herbert, J.-M.3
Benson, M.4
-
30
-
-
0036733629
-
Matrix metalloproteinases 2 and 9 work in concert to produce aortic aneurysms
-
DOI 10.1172/JCI200215334
-
Longo GM, Xiong W, Greiner TC, Zhao Y, Fiotti N, et al. (2002) Matrix metalloproteinases 2 and 9 work in concert to produce aortic aneurysms. J Clin Invest 110: 625-632. (Pubitemid 34988786)
-
(2002)
Journal of Clinical Investigation
, vol.110
, Issue.5
, pp. 625-632
-
-
Matthew, L.G.1
Xiong, W.2
Greiner, T.C.3
Zhao, Y.4
Fiotti, N.5
Timothy, B.B.6
-
31
-
-
33747030405
-
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
-
DOI 10.1002/humu.20354
-
Singh KK, Rommel K, Mishra A, Karck M, Haverich A, et al. (2006) TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 27: 770-777. (Pubitemid 44205070)
-
(2006)
Human Mutation
, vol.27
, Issue.8
, pp. 770-777
-
-
Singh, K.K.1
Rommel, K.2
Mishra, A.3
Karck, M.4
Haverich, A.5
Schmidtke, J.6
Arslan-Kirchner, M.7
-
32
-
-
33744464743
-
Interstitial 9q22.3 microdeletion: Clinical and molecular characterisation of a newly recognised overgrowth syndrome
-
DOI 10.1038/sj.ejhg.5201613, PII 5201613
-
Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, et al. (2006) Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet 14: 759-767. (Pubitemid 43797274)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.6
, pp. 759-767
-
-
Redon, R.1
Baujat, G.2
Sanlaville, D.3
Le, M.M.4
Vekemans, M.5
Munnich, A.6
Carter, N.P.7
Cormier-Daire, V.8
Colleaux, L.9
-
33
-
-
84864411184
-
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
-
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, et al. (2012) TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 44: 916-921.
-
(2012)
Nat Genet
, vol.44
, pp. 916-921
-
-
Boileau, C.1
Guo, D.C.2
Hanna, N.3
Regalado, E.S.4
Detaint, D.5
-
34
-
-
79251602475
-
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
-
van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, et al. (2011) Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nature genetics 43: 121-126.
-
(2011)
Nature Genetics
, vol.43
, pp. 121-126
-
-
Van De Laar, I.M.1
Oldenburg, R.A.2
Pals, G.3
Roos-Hesselink, J.W.4
De Graaf, B.M.5
-
35
-
-
20844433026
-
Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis
-
DOI 10.1016/j.ygeno.2004.09.003, PII S0888754304002563
-
Tang Y, Lee KS, Yang H, Logan DW, Wang S, et al. (2005) Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis. Genomics 85: 60-70. (Pubitemid 39655691)
-
(2005)
Genomics
, vol.85
, Issue.1
, pp. 60-70
-
-
Tang, Y.1
Sook, L.K.2
Yang, H.3
Logan, D.W.4
Wang, S.5
McKinnon, M.L.6
Holt, L.J.7
Condie, A.8
Luu, M.T.9
Akhurst, R.J.10
-
36
-
-
0038105034
-
-l- mice
-
DOI 10.1093/hmg/ddg164
-
Tang Y, McKinnon ML, Leong LM, Rusholme SA, Wang S, et al. (2003) Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice. Hum Mol Genet 12: 1579-1589. (Pubitemid 36857305)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.13
, pp. 1579-1589
-
-
Tang, Y.1
McKinnon, M.L.2
Leong, L.M.3
Rusholme, S.A.B.4
Wang, S.5
Akhurst, R.J.6
-
37
-
-
79953180846
-
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
-
Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverenyi I, et al. (2011) Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet 43: 365-369.
-
(2011)
Nat Genet
, vol.43
, pp. 365-369
-
-
Goudie, D.R.1
D'Alessandro, M.2
Merriman, B.3
Lee, H.4
Szeverenyi, I.5
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