This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart ...

Mutations in the BAF (SWI/SNF)-complex subunits (SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, and ARID1A) have been shown to cause CSS. People diagnosed with BAF pathway related diseases are increasing ...

Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA ...

They then showed that the binding of SMARCE1 and SMARCB1 is required for the appropriate reactivation of bound genes after mitosis. "In a normal cell, SMARCB1 would be bound in mitosis to bookmark ...

INFO [2023-05-22 16:29:08] smooth_by_chromosome: chr: 2 INFO [2023-05-22 16:29:13] smooth_by_chromosome: chr: 3 INFO [2023-05-22 16:29:18] smooth_by_chromosome: chr: 4 INFO [2023-05-22 16:29:23] ...

Individuals with Coffin-Siris syndrome typically have distinctive facial features and may experience developmental delays. Other symptoms include feeding difficulties and issues with vision and ...

Additionally, four patients carried pathogenic mutations in SMARCA4 (n =2) and SMARCE1 (n =2), two genes encoding key components of the BAF chromatin-remodeling complex. Patients with pathogenic ...

Data represent mean with standard deviation derived from three independent experiments. F. SMARCC1 and SMARCE1 mRNA expression does not change following 100 nM mithramycin treatment in G401 cells as ...