-
1
-
-
52949141431
-
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction
-
Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 283-302
-
-
Milewicz, D.M.1
Guo, D.C.2
Tran-Fadulu, V.3
-
2
-
-
33748752789
-
Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns
-
Albornoz G, Coady MA, Roberts M, et al. Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006;82(4):1400-5.
-
(2006)
Ann Thorac Surg
, vol.82
, Issue.4
, pp. 1400-1405
-
-
Albornoz, G.1
Coady, M.A.2
Roberts, M.3
-
3
-
-
36549071997
-
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
-
Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007;39(12):1488-93.
-
(2007)
Nat Genet
, vol.39
, Issue.12
, pp. 1488-1493
-
-
Guo, D.C.1
Pannu, H.2
Tran-Fadulu, V.3
-
4
-
-
73349127492
-
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)
-
Morisaki H, Akutsu K, Ogino H, et al. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Hum Mutat. 2009;30(10):1406-11.
-
(2009)
Hum Mutat
, vol.30
, Issue.10
, pp. 1406-1411
-
-
Morisaki, H.1
Akutsu, K.2
Ogino, H.3
-
5
-
-
84891522177
-
The genetics and genomics of thoracic aortic disease
-
Pomianowski P, Elefteriades JA. The genetics and genomics of thoracic aortic disease. Ann Cardiothorac Surg. 2013;2(3):271-9.
-
(2013)
Ann Cardiothorac Surg
, vol.2
, Issue.3
, pp. 271-279
-
-
Pomianowski, P.1
Elefteriades, J.A.2
-
6
-
-
84919695467
-
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections
-
Barbier M, Gross MS, Aubart M, et al. MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. Am J Hum Genet. 2014;95(6):736-43.
-
(2014)
Am J Hum Genet
, vol.95
, Issue.6
, pp. 736-743
-
-
Barbier, M.1
Gross, M.S.2
Aubart, M.3
-
7
-
-
84920737567
-
MAT2A mutations predispose individuals to thoracic aortic aneurysms
-
Guo DC, Gong L, Regalado ES, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet. 2015;96(1):170-7.
-
(2015)
Am J Hum Genet
, vol.96
, Issue.1
, pp. 170-177
-
-
Guo, D.C.1
Gong, L.2
Regalado, E.S.3
-
8
-
-
84939433059
-
Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD
-
Guo J, Cai L, Jia L, et al. Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. Sci Rep. 2015;14(5):13115.
-
(2015)
Sci Rep
, vol.14
, Issue.5
, pp. 13115
-
-
Guo, J.1
Cai, L.2
Jia, L.3
-
9
-
-
84872340247
-
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections
-
Wang WJ, Han P, Zheng J, et al. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. J Mol Med (Berl). 2013;91(1):37-47.
-
(2013)
J Mol Med (Berl)
, vol.91
, Issue.1
, pp. 37-47
-
-
Wang, W.J.1
Han, P.2
Zheng, J.3
-
10
-
-
84908284760
-
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation
-
Dong SB, Zheng J, Ma WG, et al. Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. Ann Vasc Surg. 2014;28(8):1909-12.
-
(2014)
Ann Vasc Surg
, vol.28
, Issue.8
, pp. 1909-1912
-
-
Dong, S.B.1
Zheng, J.2
Ma, W.G.3
-
11
-
-
84867309410
-
High-resolution melting: applications in genetic disorders
-
Er TK, Chang JG. High-resolution melting: applications in genetic disorders. Clin Chim Acta. 2012;414:197-201.
-
(2012)
Clin Chim Acta
, vol.414
, pp. 197-201
-
-
Er, T.K.1
Chang, J.G.2
-
12
-
-
33746270307
-
Novel HSF4 mutation causes congenital total white cataract in a Chinese family
-
Ke T, Wang QK, Ji B, et al. Novel HSF4 mutation causes congenital total white cataract in a Chinese family. Am J Ophthalmol. 2006;142(2):298-303.
-
(2006)
Am J Ophthalmol
, vol.142
, Issue.2
, pp. 298-303
-
-
Ke, T.1
Wang, Q.K.2
Ji, B.3
-
13
-
-
80052584397
-
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
-
Regalado ES, Guo DC, Villamizar C, et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011;109(6):680-6.
-
(2011)
Circ Res
, vol.109
, Issue.6
, pp. 680-686
-
-
Regalado, E.S.1
Guo, D.C.2
Villamizar, C.3
-
14
-
-
84891905048
-
Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections
-
Milewicz DM, Regalado ES, Shendure J, et al. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends Cardiovasc Med. 2014;24(2):53-60.
-
(2014)
Trends Cardiovasc Med
, vol.24
, Issue.2
, pp. 53-60
-
-
Milewicz, D.M.1
Regalado, E.S.2
Shendure, J.3
-
15
-
-
66349090454
-
High-resolution melting analysis (HRMA): more than just sequence variant screening
-
Vossen RH, Aten E, Roos A, et al. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat. 2009;30(6):860-6.
-
(2009)
Hum Mutat
, vol.30
, Issue.6
, pp. 860-866
-
-
Vossen, R.H.1
Aten, E.2
Roos, A.3
-
16
-
-
65149088429
-
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
-
Guo DC, Papke CL, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009;84(5):617-27.
-
(2009)
Am J Hum Genet
, vol.84
, Issue.5
, pp. 617-627
-
-
Guo, D.C.1
Papke, C.L.2
Tran-Fadulu, V.3
-
17
-
-
79551484687
-
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)
-
Disabella E, Grasso M, Gambarin FI, et al. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). Heart. 2011;97(4):321-6.
-
(2011)
Heart
, vol.97
, Issue.4
, pp. 321-326
-
-
Disabella, E.1
Grasso, M.2
Gambarin, F.I.3
-
18
-
-
79955764626
-
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections
-
Hoffjan S, Waldmüller S, Blankenfeldt W, et al. Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. Eur J Hum Genet. 2011;19(5):520-4.
-
(2011)
Eur J Hum Genet
, vol.19
, Issue.5
, pp. 520-524
-
-
Hoffjan, S.1
Waldmüller, S.2
Blankenfeldt, W.3
-
19
-
-
84860847795
-
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing
-
Sakai H, Suzuki S, Mizuguchi T, et al. Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Hum Genet. 2012;131(4):591-9.
-
(2012)
Hum Genet
, vol.131
, Issue.4
, pp. 591-599
-
-
Sakai, H.1
Suzuki, S.2
Mizuguchi, T.3
-
20
-
-
84873913498
-
TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction
-
Bee KJ, Wilkes DC, Devereux RB, et al. TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. Circ Cardiovasc Genet. 2012;5(6):621-9.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, Issue.6
, pp. 621-629
-
-
Bee, K.J.1
Wilkes, D.C.2
Devereux, R.B.3
-
21
-
-
84876664370
-
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
-
Renard M, Callewaert B, Baetens M, et al. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol. 2013;165(2):314-21.
-
(2013)
Int J Cardiol
, vol.165
, Issue.2
, pp. 314-321
-
-
Renard, M.1
Callewaert, B.2
Baetens, M.3
-
22
-
-
9444255079
-
Mutations profile in Chinese patients with hypertrophic cardiomyopathy
-
Song L, Zou Y, Wang J, et al. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta. 2005;351(1-2):209-16.
-
(2005)
Clin Chim Acta
, vol.351
, Issue.1-2
, pp. 209-216
-
-
Song, L.1
Zou, Y.2
Wang, J.3
-
23
-
-
0036884746
-
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population
-
Liu W, Yang J, Hu D, et al. KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002;20(6):475-6.
-
(2002)
Hum Mutat
, vol.20
, Issue.6
, pp. 475-476
-
-
Liu, W.1
Yang, J.2
Hu, D.3
-
24
-
-
79953207296
-
Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population
-
Wang F, Xu CQ, He Q, et al. Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population. Nat Genet. 2011;43(4):345-9.
-
(2011)
Nat Genet
, vol.43
, Issue.4
, pp. 345-349
-
-
Wang, F.1
Xu, C.Q.2
He, Q.3
-
25
-
-
79953211123
-
Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function
-
Bergeron SE, Wedemeyer EW, Lee R, et al. Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. J Biol Chem. 2011;286(13):11356-69.
-
(2011)
J Biol Chem
, vol.286
, Issue.13
, pp. 11356-11369
-
-
Bergeron, S.E.1
Wedemeyer, E.W.2
Lee, R.3
|