Literature DB >> 33517666

Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.

Alexandra Cirnu1, Konstantinos Kolokotronis2, Katharina Walz1, Anne Kilinç1, Anna Janz1, Tatjana Williams1, Albert Busch3, Simone Rost2, Brenda Gerull1,4.   

Abstract

Entities:  

Keywords:  aneurysm, dissecting; aortic aneurysm, thoracic; elastin; genetics; mutation, missense

Mesh：

Substances：

Year:  2021        PMID： 33517666     DOI： 10.1161/CIRCGEN.120.003217

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  2 in total

1.  Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure.

Authors:  Kit Man Tsang; Russell H Knutsen; Charles J Billington; Eric Lindberg; Heiko Steenbock; Yi-Ping Fu; Amanda Wardlaw-Pickett; Delong Liu; Daniela Malide; Zu-Xi Yu; Christopher K E Bleck; Jürgen Brinckmann; Beth A Kozel
Journal:  Int J Mol Sci       Date:  2022-06-17       Impact factor: 6.208

2.  Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Authors:  Ilse Van Gucht; Alice Krebsova; Birgitte Rode Diness; Steven Laga; Dave Adlam; Marlies Kempers; Nilesh J Samani; Tom R Webb; Ania A Baranowska; Lotte Van Den Heuvel; Melanie Perik; Ilse Luyckx; Nils Peeters; Pavel Votypka; Milan Macek; Josephina Meester; Lut Van Laer; Aline Verstraeten; Bart L Loeys
Journal:  Int J Mol Sci       Date:  2021-07-01       Impact factor: 5.923
  2 in total

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