All Outputs (14)

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart (2024)
Journal Article

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.

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model (2020)
Journal Article

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Myotonic dystrophy type 1 (DM1) is an RNA-based disease with no current treatment.... Read More about CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.

HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1 (2019)
Journal Article

TBX5 is a T-box family transcription factor that regulates heart and forelimb development in vertebrates and functional deficiencies in this protein result in Holt-Oram syndrome. Recently, we have shown that acetylation of TBX5 potentiates its activi... Read More about HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1.

Small molecules which improve pathogenesis of myotonic dystrophy type 1 (2018)
Journal Article

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults for which there is currently no treatment. The pathogenesis of this autosomal dominant disorder is associated with the expansion of CTG repeats in the 3′-UTR of the DMPK... Read More about Small molecules which improve pathogenesis of myotonic dystrophy type 1.

Quantitative methods to monitor RNA biomarkers in myotonic dystrophy (2018)
Journal Article

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in afected genes. The abnormal expansion of CTG repeats in the 3′-UTR of the DMPK gene elicits DM1, whereas el... Read More about Quantitative methods to monitor RNA biomarkers in myotonic dystrophy.

Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development (2017)
Journal Article

© 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.

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects (2017)
Journal Article

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.

CORRELATION OF CLINICAL AND MOLECULAR FEATURES IN MYOTONIC DYSTROPHY TYPE 1 (2016)
Journal Article

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016)
Journal Article

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%. Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%), suggesting a considerable role for de novo mutations (DNMs) an... Read More about Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines (2014)
Journal Article

Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there is no treatment. We have developed a medium throughput phenotypic assay, based on the identification of nuclear foci in DM patient cell lines using in situ hybridization... Read More about High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.

The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development (2013)
Journal Article

The importance of microRNAs in development is now widely accepted. However, identifying the specific targets of individual microRNAs and understanding their biological significance remains a major challenge. We have used the zebrafish model system to... Read More about The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development.

Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics (2012)
Journal Article

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

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.

Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis (2009)
Journal Article

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.