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 (6)

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.

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.

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.

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.