Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants

Circ Genom Precis Med. 2023 Feb;16(1):e003901. doi: 10.1161/CIRCGEN.122.003901. Epub 2023 Jan 30.

Authors

Sophie L V M Stroeks^{1

2}, Daan van Beek³, Michiel E Adriaens³, Job A J Verdonschot^{1

4}

Affiliations

¹ Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht, The Netherlands (S.L.V.M.S., J.A.J.V.).
² KU Leuven, Cardiovascular Sciences, Belgium (S.L.V.M.S.).
³ Maastricht Centre for Systems Biology, Maastricht University, The Netherlands (D.v.B., M.E.A.).
⁴ Department of Clinical Genetics, Maastricht University Medical Center, The Netherlands (J.A.J.V.).

PMID: 36716182
DOI: 10.1161/CIRCGEN.122.003901

No abstract available

Keywords: RNA; alleles; cardiomyopathy; haploinsufficiency; sequence analysis.

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Alleles
Cardiomyopathy, Dilated* / genetics
Cardiomyopathy, Dilated* / metabolism
Connectin / genetics
Genetic Predisposition to Disease
Humans
Mutation

Substances

Connectin