Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations

Granados-Riveron, Javier T.; Pope, Mark; Bu'Lock, Frances A.; Thornborough, Christopher; Eason, Jacqueline; Setchfield, Kerry; Ketley, Ami; Kirk, Edwin P.; Fatkin, Diane; Feneley, Michael P.; Harvey, Richard P.; Brook, David

doi:10.1111/j.1747-0803.2011.00573.x

All Outputs (3)

Exercise-induced ‘browning’ of adipose tissues (2017)
Journal Article
Aldiss, P., Betts, J. A., Sale, C., Pope, M., Budge, H., & Symonds, M. E. (2018). Exercise-induced ‘browning’ of adipose tissues. Metabolism, 81, https://doi.org/10.1016/j.metabol.2017.11.009

Global rates of obesity continue to rise and are necessarily the consequence of a long-term imbalance between energy intake and energy expenditure. This is the result of an expansion of adipose tissue due to both the hypertrophy of existing adipocyte... Read More about Exercise-induced ‘browning’ of adipose tissues.

Ontogeny and thermogenic role for sternal fat in female sheep (2017)
Journal Article
Henry, B. A., Pope, M., Birtwistle, M., Loughnan, R., Alagal, R., Fuller-Jackson, J.-P., …Symonds, M. E. (in press). Ontogeny and thermogenic role for sternal fat in female sheep. Endocrinology, 158(7), https://doi.org/10.1210/en.2017-00081

Brown adipose tissue acting through a unique uncoupling protein (UCP1) has a critical role in preventing hypothermia in new-born sheep but is then considered to rapidly disappear during postnatal life. The extent to which the anatomical location of f... Read More about Ontogeny and thermogenic role for sternal fat in female sheep.

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.