Publications by authors named "Hind C Zahr"
Lamins A and C, encoded by the LMNA gene, are nuclear intermediate filaments that provide structural support to the nucleus and contribute to chromatin organization and transcriptional regulation. LMNA mutations cause muscular dystrophies, dilated cardiomyopathy, and other diseases. The mechanisms by which many LMNA mutations result in muscle-specific diseases have remained elusive, presenting a major hurdle in the development of effective treatments.
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- Mutations in the gene encoding lamin A and C proteins are linked to laminopathies, including Dilated Cardiomyopathy (DCM), which is marked by left ventricle dilation and potential heart failure.
- More than 60 genes have been associated with DCM, impacting a range of proteins involved in heart function, with RNA binding motif protein 20 (RBM20) identified as a key player in heart-specific alternative splicing.
- Advances in next-generation sequencing reveal splice-site mutations connected to DCM, emphasizing the need to understand how these mutations interact with splicing regulators to contribute to the disease.