OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

We conclude that the splicing of OBSCN is extensively regulated during the human skeletal/cardiac muscle development. We developed an interactive visualization tool that can be used by clinicians and researchers to study the inclusion of specific OBSCN exons in pre- and postnatal cardiac and skeletal muscles and access the statistics for the differential inclusion of the exons across the studied sample groups. The OBSCN exon inclusion map related to the human cardiac and skeletal muscle development is available at http://psivis.it.helsinki.fi:3838/OBSCN_PSIVIS/ . These findings are essential for an accurate pre- and postnatal clinical interpretation of the OBSCN exonic variants.

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Publication Details

Journal
Skeletal Muscle
Published
2025-03-01
DOI
https://doi.org/10.1186/s13395-025-00374-6
Citations
3
Primary Topic
RNA Research and Splicing
Type
article
Field-Weighted Citation Impact
2.42

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article

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Mridul Johari, Francina Munell, Johanna Tolva, Peter Hackman et al.
3 citations
Skeletal Muscle
RNA Research and Splicing
2.42
article

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Mridul Johari, Francina Munell, Johanna Tolva, Peter Hackman, Heli Tolppanen, David Gómez‐Andrés, Ali Oghabian, Juha P. Sinisalo, Per Harald Jonson, Jessica Camacho, Marco Savarese, Bjarne Udd, Ella Nippala, Maria Angeles Sanchez Duran, Swethaa Natraj Gayathri
article en
3 citations

Abstract

We conclude that the splicing of OBSCN is extensively regulated during the human skeletal/cardiac muscle development. We developed an interactive visualization tool that can be used by clinicians and researchers to study the inclusion of specific OBSCN exons in pre- and postnatal cardiac and skeletal muscles and access the statistics for the differential inclusion of the exons across the studied sample groups. The OBSCN exon inclusion map related to the human cardiac and skeletal muscle development is available at http://psivis.it.helsinki.fi:3838/OBSCN_PSIVIS/ . These findings are essential for an accurate pre- and postnatal clinical interpretation of the OBSCN exonic variants.

Skeletal MuscleVol. 15(1)
Universitat Autònoma de Barcelona (ES), University of Helsinki (FI), Tampere University (FI), The University of Western Australia (AU), Harry Perkins Institute of Medical Research (AU), Helsinki University Hospital (FI), Vall d'Hebron Institut de Recerca (ES), Vall d'Hebron Hospital Universitari (ES), Folkhälsans Forskningscentrum (FI)
Helsingin Yliopisto, Academy of Finland, Jane ja Aatos Erkon Säätiö, Magnus Ehrnroothin Säätiö, Sydäntutkimussäätiö, Instituto de Salud Carlos III
Reduced inequalities
Openalex Percentile: Top 13%
RNA Research and Splicing
2.42
DOIOpen Access PDFOpenAlex
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