메뉴 건너뛰기
Ophthalmic Genetics
Volumn 36, Issue 1, 2015, Pages 86-88
Iris flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections
Author keywords

[No Author keywords available]
Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN; ARGININE; CYSTEINE; ACTA2 PROTEIN, HUMAN; ACTIN; BIOLOGICAL MARKER;
EID: 84922874568     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2013.833634     Document Type: Article
Times cited : (13)
References (9)
  • 1
    • 36549071997 scopus 로고    scopus 로고
    • 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: 1488-1493.
    • (2007) Nat Genet , vol.39 , pp. 1488-1493
    • Guo, D.C.1    Pannu, H.2    Tran-Fadulu, V.3
  • 2
    • 52949141431 scopus 로고    scopus 로고
    • 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
  • 3
    • 0017127720 scopus 로고
    • Familial aortic dissection with iris anomalies - A new connective tissue disease syndrome?
    • Bixler D, Antley RM. Familial aortic dissection with iris anomalies - a new connective tissue disease syndrome? Birth Defects Orig Artic Ser 1976;12:229-234.
    • (1976) Birth Defects Orig Artic Ser , vol.12 , pp. 229-234
    • Bixler, D.1    Antley, R.M.2
  • 4
    • 0029148713 scopus 로고
    • Iris flocculi and familial aortic dissection
    • Lewis RA, Merin LM. Iris flocculi and familial aortic dissection. Arch Ophthalmol 1995;113:1330-1331.
    • (1995) Arch Ophthalmol , vol.113 , pp. 1330-1331
    • Lewis, R.A.1    Merin, L.M.2
  • 5
    • 84861229549 scopus 로고    scopus 로고
    • Genetics of thoracic aortic aneurysms
    • Jondeau G, Boileau G. Genetics of thoracic aortic aneurysms. Curr Atheroscler Rep 2012;14:219-226.
    • (2012) Curr Atheroscler Rep , vol.14 , pp. 219-226
    • Jondeau, G.1    Boileau, G.2
  • 6
    • 70349975004 scopus 로고    scopus 로고
    • Ultrastructural appearance of iris flocculi associated with a thoracic aortic aneurysm and dissections
    • Hashida N, Ohguro N, Morimoto Y, et al. Ultrastructural appearance of iris flocculi associated with a thoracic aortic aneurysm and dissections. Br J Ophthalmol 2009;93: 1409-1410.
    • (2009) Br J Ophthalmol , vol.93 , pp. 1409-1410
    • Hashida, N.1    Ohguro, N.2    Morimoto, Y.3
  • 7
    • 73349127492 scopus 로고    scopus 로고
    • 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;30:1406-1411.
    • (2009) Hum Mutat , vol.30 , pp. 1406-1411
    • Morisaki, H.1    Akutsu, K.2    Ogino, H.3
  • 8
    • 79551484687 scopus 로고    scopus 로고
    • 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; 97:321-326.
    • (2011) Heart , vol.97 , pp. 321-326
    • Disabella, E.1    Grasso, M.2    Gambarin, F.I.3
  • 9
    • 84866098858 scopus 로고    scopus 로고
    • Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome
    • Moller HU, Fledelius HC, Milewicz DM, et al. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. Br J Ophthalmol 2012;96: 1227-1231.
    • (2012) Br J Ophthalmol , vol.96 , pp. 1227-1231
    • Moller, H.U.1    Fledelius, H.C.2    Milewicz, D.M.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.