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Literature DB >> 31112421

Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3.

Alexandra Dainis¹, Elizabeth Tseng², Tyson A Clark², Ting Hon², Matthew Wheeler^3,4, Euan Ashley^1,3,4.

Abstract

Entities: Gene

Keywords: alleles; alternative splicing; cardiomyopathy, hypertrophic; exome; humans

Mesh：

Substances：

Year: 2019 PMID： 31112421 DOI： 10.1161/CIRCGEN.119.002464

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

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Cited

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3 in total

1. Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3.

Authors: Mira Holliday; Emma S Singer; Samantha B Ross; Seakcheng Lim; Sean Lal; Jodie Ingles; Christopher Semsarian; Richard D Bagnall
Journal: Circ Genom Precis Med Date: 2021-03-03

2. Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3^Δ25bp/D389V.

Authors: Frederic V Schwäbe; Emanuel K Peter; Manuel H Taft; Dietmar J Manstein
Journal: Int J Mol Sci Date: 2021-11-04 Impact factor: 5.923

Review 3. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

Authors: Shruti Marwaha; Joshua W Knowles; Euan A Ashley
Journal: Genome Med Date: 2022-02-28 Impact factor: 15.266

3 in total

Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3.

1. Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3.

2. Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3Δ25bp/D389V.

Review 3. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

2. Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3^Δ25bp/D389V.