ListarGI- GRINCAR - Artigos por tema "Alternative splicing"
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Intron retention generates ANKRD1 splice variants that are co-regulated with the main transcript in normal and failing myocardium
(Elsevier, 2009-03-31)[Abstract] The cardiac ankyrin repeat domain 1 protein (ANKRD1, also known as CARP) has been extensively characterized with regard to its proposed functions as a cardio-enriched transcriptional co-factor and stress-inducible ... -
Protein Haploinsufficiency Drivers Identify MYBPC3 Variants That Cause Hypertrophic Cardiomyopathy
(Elsevier, 2021-06-05)[Abstract] Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the ...