Literature DB >> 24020716

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

Sarah Chamney1, Stuart McGimpsey, Vivienne McConnell, Colin E Willoughby.   

Abstract

Non-syndromic familial thoracic aortic aneurysms and dissections (TAAD) are inherited in an autosomal dominant manner. We report a missense mutation in the smooth muscle α-actin (ACTA2; MIM*102620) gene in a 3 generational family from Northern Ireland in which iris flocculi were an ocular marker of the disease.

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Year:  2013        PMID： 24020716     DOI： 10.3109/13816810.2013.833634

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


  4 in total

1.  Chronological Observations of Iris Flocculi in a Japanese Family with Thoracic Aortic Aneurysm and Dissections.

Authors:  Yuka Mori; Noriyasu Hashida; Kazunobu Asao; Kazuichi Maruyama; Kohji Nishida
Journal:  Case Rep Ophthalmol       Date:  2019-11-26

Review 2.  Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.

Authors:  Azra Alajbegovic; Johan Holmberg; Sebastian Albinsson
Journal:  Front Physiol       Date:  2017-08-10       Impact factor: 4.566

3.  ACTA2 leukovasculopathy: A rare pediatric white matter disorder.

Authors:  Tonia M Sabo; Mathew A Stokes; Nishika Karbhari; Daniel L Veltkamp; Cory M Pfeifer
Journal:  Radiol Case Rep       Date:  2020-06-18

4.  Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Authors:  Giovanni Mariscalco; Radoslaw Debiec; John A Elefteriades; Nilesh J Samani; Gavin J Murphy
Journal:  J Am Heart Assoc       Date:  2018-08-07       Impact factor: 5.501
  4 in total

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