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Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics (2012)
Journal Article
Granados-Riveron, J. T., & Brook, D. (2012). Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics. Biochemistry Research International, 2012(504906), https://doi.org/10.1155/2012/504906

Congenital heart disease (CHD) is the most common birth defect in humans. It is a leading infant mortality factor worldwide, caused by defective cardiac development. Mutations in transcription factors, signalling and structural molecules have been sh... Read More about Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics.

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations (2012)
Journal Article
Granados-Riveron, J. T., Pope, M., Bu'Lock, F. A., Thornborough, C., Eason, J., Setchfield, K., …Brook, D. (2012). Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations. Congenital Heart Disease, 7(2), https://doi.org/10.1111/j.1747-0803.2011.00573.x

Background: Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 and GATA4 were the first CHD-causing genes identified by linkage... Read More about Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.