Literature DB >> 23102774

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

Marjolijn Renard, Bert Callewaert, Fransiska Malfait, Laurence Campens, Saba Sharif, Miguel del Campo, Irene Valenzuela, Catherine Mcwilliam, Paul Coucke, Anne De Paepe, Julie De Backer.   

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Year:  2012        PMID： 23102774     DOI： 10.1016/j.ijcard.2012.09.029

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  20 in total

1.  Genes in thoracic aortic aneurysms/dissections - do they matter?

Authors:  Julie De Backer; Laurence Campens; Anne De Paepe
Journal:  Ann Cardiothorac Surg       Date:  2013-01

2.  Dysregulation of schizophrenia-related aquaporin 3 through disruption of paranode influences neuronal viability.

Authors:  Kazuo Kunisawa; Takeshi Shimizu; Itaru Kushima; Branko Aleksic; Daisuke Mori; Yasuyuki Osanai; Kenta Kobayashi; Anna M Taylor; Manzoor A Bhat; Akiko Hayashi; Hiroko Baba; Norio Ozaki; Kazuhiro Ikenaka
Journal:  J Neurochem       Date:  2018-08-29       Impact factor: 5.372

Review 3.  Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Authors:  Josephina A N Meester; Aline Verstraeten; Dorien Schepers; Maaike Alaerts; Lut Van Laer; Bart L Loeys
Journal:  Ann Cardiothorac Surg       Date:  2017-11

4.  Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

Authors:  Jeffrey A Schubert; Benjamin J Landis; Amy R Shikany; Robert B Hinton; Stephanie M Ware
Journal:  Am J Med Genet A       Date:  2016-02-07       Impact factor: 2.802

Review 5.  Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

Authors:  Adam J Brownstein; Bulat A Ziganshin; Helena Kuivaniemi; Simon C Body; Allen E Bale; John A Elefteriades
Journal:  Aorta (Stamford)       Date:  2017-02-01

6.  Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

Authors:  Julie De Backer; Marjolijn Renard; Laurence Campens; Katrien François; Bert Callewaert; Paul Coucke; Anne De Paepe
Journal:  Aorta (Stamford)       Date:  2013-07-01

7.  Generation of mice carrying a knockout-first and conditional-ready allele of transforming growth factor beta2 gene.

Authors:  A S Ishtiaq Ahmed; Gracelyn C Bose; Li Huang; Mohamad Azhar
Journal:  Genesis       Date:  2014-06-09       Impact factor: 2.487

8.  A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.

Authors:  Raya Al Maskari; S Cleary; Nikki Figg; Sarju Mehta; Doris Rassl; Ian Wilkinson; Kevin M O'Shaughnessy
Journal:  Eur J Hum Genet       Date:  2016-10-26       Impact factor: 4.246

9.  Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Authors:  Laurence Campens; Bert Callewaert; Laura Muiño Mosquera; Marjolijn Renard; Sofie Symoens; Anne De Paepe; Paul Coucke; Julie De Backer
Journal:  Orphanet J Rare Dis       Date:  2015-02-03       Impact factor: 4.123

10.  Fibulin-4 deficiency increases TGF-β signalling in aortic smooth muscle cells due to elevated TGF-β2 levels.

Authors:  N W M Ramnath; L J A C Hawinkels; P M van Heijningen; L te Riet; M Paauwe; M Vermeij; A H J Danser; R Kanaar; P ten Dijke; J Essers
Journal:  Sci Rep       Date:  2015-11-26       Impact factor: 4.379
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