Dr SIOBHAN LOUGHNA's Outputs (13)

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development (2024)
Journal Article
Waheed‐Ullah, Q., Wilsdon, A., Abbad, A., Rochette, S., Bu'Lock, F., Saed, A. A., Hitz, M., Brook, J. D., & Loughna, S. (2024). Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development. Journal of Anatomy, https://doi.org/10.1111/joa.14175

Congenital heart disease (CHD) has an incidence of approximately 1%. Over the last decade, sequencing studies including large cohorts of individuals with CHD have begun to unravel the genetic mechanisms underpinning CHD. This includes the identificat... Read More about Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development.

Human Genetics of Congenital Heart Defects (2024)
Book Chapter
Wilsdon, A., & Loughna, S. (2024). Human Genetics of Congenital Heart Defects. . https://doi.org/10.1007/978-3-031-44087-8_2

Congenital heart diseases (or congenital heart defects/disorders; CHDs) are structural abnormalities of the heart and/or great vessels that are present at birth. CHDs include an extensive range of defects that may be minor and require no intervention... Read More about Human Genetics of Congenital Heart Defects.

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart (2024)
Journal Article
Waheed‐Ullah, Q., Wilsdon, A., Abbad, A., Rochette, S., Bu'Lock, F., Hitz, M., Dombrowsky, G., Cuello, F., Brook, J. D., & Loughna, S. (2024). Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart. Journal of Anatomy, 245(1), 70-83. https://doi.org/10.1111/joa.14033

Congenital heart disease (CHD) is the most common congenital anomaly, with an overall incidence of approximately 1% in the United Kingdom. Exome sequencing in large CHD cohorts has been performed to provide insights into the genetic aetiology of CHD.... Read More about Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.

Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis (2019)
Journal Article
Parnall, M., Perdios, C., Pang, K. L., Rochette, S., & Loughna, S. (2020). Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis. Journal of Anatomy, 236(3), 549-563. https://doi.org/10.1111/joa.13112

Cardiogenesis is influenced by both environmental and genetic factors, with blood flow playing a critical role in cardiac remodelling. Perturbation of any of these factors could lead to abnormal heart development and hence the formation of congenital... Read More about Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis.

Altered haemodynamics cause aberrations in the epicardium (2019)
Journal Article
Perdios, C., Parnall, M., Pang, K. L., & Loughna, S. (2019). Altered haemodynamics cause aberrations in the epicardium. Journal of Anatomy, 234(6), 800-814. https://doi.org/10.1111/joa.12977

During embryo development, the heart is the first functioning organ. Although quiescent in the adult, the epicardium is essential during development to form a normal four‐chambered heart. Epicardial‐derived cells contribute to the heart as it develop... Read More about Altered haemodynamics cause aberrations in the epicardium.

Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development (2017)
Journal Article
Ghosh, T. K., Aparicio-Sánchez, J. J., Buxton, S., Ketley, A., Mohamed, T., Rutland, C. S., Loughna, S., & Brook, J. D. (2018). Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development. Journal of Molecular and Cellular Cardiology, 114, 185-198. https://doi.org/10.1016/j.yjmcc.2017.11.013

© 2017 Elsevier Ltd TBX5 plays a critical role in heart and forelimb development. Mutations in TBX5 cause Holt-Oram syndrome, an autosomal dominant condition that affects the formation of the heart and upper-limb. Several studies have provided signif... Read More about Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.

Multiple species comparison of cardiac troponin T and dystrophin: unravelling the DNA behind dilated cardiomyopathy (2017)
Journal Article
England, J., Loughna, S., & Rutland, C. S. (2017). Multiple species comparison of cardiac troponin T and dystrophin: unravelling the DNA behind dilated cardiomyopathy. Journal of Cardiovascular Development and Disease, 4(3), Article 8. https://doi.org/10.3390/jcdd4030008

Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animal... Read More about Multiple species comparison of cardiac troponin T and dystrophin: unravelling the DNA behind dilated cardiomyopathy.

Effect of altered haemodynamics on the developing mitral valve in chick embryonic heart (2017)
Journal Article
Pang, K. L., Parnall, M., & Loughna, S. (2017). Effect of altered haemodynamics on the developing mitral valve in chick embryonic heart. Journal of Molecular and Cellular Cardiology, 108, https://doi.org/10.1016/j.yjmcc.2017.05.012

Intracardiac haemodynamics is crucial for normal cardiogenesis, with recent evidence showing valvulogenesis is haemodynamically dependent and inextricably linked with shear stress. Although valve anomalies have been associated with genetic mutations,... Read More about Effect of altered haemodynamics on the developing mitral valve in chick embryonic heart.

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects (2017)
Journal Article
England, J., Granados-Riveron, J. T., Polo-Parada, L., Kuriakose, D., Moore, C., Brook, J. D., Rutland, C. S., Setchfield, K., Gell, C., Ghosh, T. K., Bu'Lock, F. A., Thornborough, C., Ehler, E., & Loughna, S. (2017). Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects. Journal of Molecular and Cellular Cardiology, 106, https://doi.org/10.1016/j.yjmcc.2017.03.006

Tropomyosin 1 (TPM1) is an essential sarcomeric component, stabilising the thin filament and facilitating actin's interaction with myosin. A number of sarcomeric proteins, such as alpha myosin heavy chain, play crucial roles in cardiac development. M... Read More about Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects.

Cardiac troponin T is necessary for normal development in the embryonic chick heart (2016)
Journal Article
England, J., Pang, K. L., Parnall, M., Haig, M. I., & Loughna, S. (in press). Cardiac troponin T is necessary for normal development in the embryonic chick heart. Journal of Anatomy, https://doi.org/10.1111/joa.12486

The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric protei... Read More about Cardiac troponin T is necessary for normal development in the embryonic chick heart.

Heavy and light roles: myosin in the morphogenesis of the heart (2013)
Journal Article
England, J., & Loughna, S. (2013). Heavy and light roles: myosin in the morphogenesis of the heart. Cellular and Molecular Life Sciences, 70(7), https://doi.org/10.1007/s00018-012-1131-1

Myosin is an essential component of cardiac muscle, from the onset of cardiogenesis through to the adult heart. Although traditionally known for its role in energy transduction and force development, recent studies
suggest that both myosin heavy-cha... Read More about Heavy and light roles: myosin in the morphogenesis of the heart.

Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart (2011)
Journal Article
Rutland, C. S., Polo-Parada, L., Ehler, E., Alibhai, A., Thorpe, A., Suren, S., Emes, R. D., Patel, B., & Loughna, S. (2011). Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart. Development, 138(18), https://doi.org/10.1242/dev.059063

The expression and function of embryonic myosin heavy chain (eMYH) has not been investigated within the early developing heart. This is despite the knowledge that other structural proteins, such as alpha and beta myosin heavy chains and cardiac alpha... Read More about Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart.

Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis (2009)
Journal Article
Rutland, C., Warner, L., Thorpe, A., Alibhai, A., Robinson, T., Shaw, B., Layfield, R., Brook, D. J., & Loughna, S. (2009). Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis. Journal of Anatomy, 214(6), 905-915. https://doi.org/10.1111/j.1469-7580.2009.01079.x

Atrial septal defects are a common congenital heart defect in humans. Although mutations in different genes are now frequently being described, little is known about the processes and mechanisms behind the early stages of atrial septal development. B... Read More about Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.