Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site-Reference-Cited by-同舟云学术

Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site

Published:2016-10-27 Issue:17 Volume:128 Page:2144-2152
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Yadegari Hamideh¹^ORCID,Biswas Arijit¹^ORCID,Akhter Mohammad Suhail¹,Driesen Julia¹,Ivaskevicius Vytautas¹,Marquardt Natascha¹,Oldenburg Johannes¹^ORCID

Affiliation:

1. Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany

Abstract

Key PointsThis study demonstrates allosteric RNA structure alteration resulting from an exonic variation, thereby interfering with splicing. This study details a novel mechanism by which silent mutation distant to the 5′ splice site could still result in intron retention.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/128/17/2144/1396198/2144.pdf

Reference46 articles.

1. Molecular and cellular biology of von Willebrand factor.;Lyons;Trends Cardiovasc Med,1994

2. The genetic basis of von Willebrand disease.;Goodeve;Blood Rev,2010

3. Classification of inherited von Willebrand disease and implications in clinical practice.;Federici;Thromb Res,2009

4. Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.;Yadegari;Haematologica,2013

5. An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution.;Berber;J Thromb Haemost,2009

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