Ontology highlight
ABSTRACT:
SUBMITTER: Burkart V
PROVIDER: S-EPMC9445301 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Burkart Valentin V Kowalski Kathrin K Aldag-Niebling David D Beck Julia J Frick Dirk Alexander DA Holler Tim T Radocaj Ante A Piep Birgit B Zeug Andre A Hilfiker-Kleiner Denise D Dos Remedios Cristobal G CG van der Velden Jolanda J Montag Judith J Kraft Theresia T
Frontiers in cardiovascular medicine 20220823
Transcriptional bursting is a common expression mode for most genes where independent transcription of alleles leads to different ratios of allelic mRNA from cell to cell. Here we investigated burst-like transcription and its consequences in cardiac tissue from Hypertrophic Cardiomyopathy (HCM) patients with heterozygous mutations in the sarcomeric proteins cardiac myosin binding protein C (cMyBP-C, <i>MYBPC3</i>) and cardiac troponin I (cTnI, <i>TNNI3</i>). Using fluorescence <i>in situ</i> hyb ...[more]