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

QR Code

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

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 analysis in large affected families. Mutations of...

Full description

Bibliographic Details
Main Authors:	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
Format:	Article
Published:	Wiley 2012
Subjects:	Congenital heart disease Mutations Multiple heterozygosity
Online Access:	https://eprints.nottingham.ac.uk/2590/

Similar Items

Identification and analysis of the synergistic targets of TBX5 and GATA-4
by: Patel, Bhakti R.
Published: (2011)

Analysis of genetic polymorphisms of TBX5, NKX2-5 and GATA4 cardiac transcription factor genes in Malaysian non syndromic congenital heart disease subjects
by: Khadhim, Nora F.
Published: (2012)

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects
by: England, Jennifer, et al.
Published: (2017)

A draft genome sequences and molecular characterisation of glycoprotein B and lower matrix phosphoprotein of rat cytomegalovirus all-3 strain
by: Quah, Yi Wan
Published: (2013)

Effectiveness of health education in improving knowledge and attitude towards toxoplasmosis among pregnant women in Al Najaf, Iraq
by: Ibadi, Atheer Kadhim
Published: (2016)

Malignant glioma: The involvement of loss of allelic heterozygosity and PTEN mutations in a group of Malay patients
by: Zainuddin, Norafiza, et al.
Published: (2005)

Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development
by: Ghosh, Tushar K., et al.
Published: (2018)

The prevalence and survival of children with congenital septal defects in the UK using CPRD
by: Onuwe, Toluwalope Yetunde
Published: (2022)

Predictors of malaria among pregnant women attending ante-natal clinic in general hospital in Zamfara State, Nigeria
by: Hadiza, Kallamu
Published: (2015)

Genetic studies on congenital heart disorders
by: Aparicio Sánchez, José Juan
Published: (2020)

Haematological parameters of Malay patients with coinheritance of Southeast Asian ovalocytosis and thalassaemia haemoglobi-nopathy traits in Klang Valley, Malaysia
by: Riahi, Shahrzad
Published: (2013)

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
by: Sifrim, Alejandro, et al.
Published: (2016)

Homocysteine metabolism enzyme gene polymorphisms in non-syndromic Malaysian congenital heart disease patients
by: Mohamad, Nur Afiqah
Published: (2013)

Maternal depression, antidepressant prescriptions, and congenital anomaly risk in offspring: a population-based cohort study
by: Ban, Lu, et al.
Published: (2014)

Limited risks of major congenital anomalies in children of mothers with coeliac disease: a population-based cohort study
by: Ban, Lu, et al.
Published: (2014)

The hunt for mutations
by: Chung, Clarissa
Published: (2021)

Dimensional Accuracy and Clinical Value of 3D Printed Models in Congenital Heart Disease: A Systematic Review and Meta-Analysis
by: Lau, Ivan, et al.
Published: (2019)

Minkowski polynomials and mutations
by: Akhtar, Mohammad, et al.
Published: (2012)

On rare mutation and chaos
by: Ganikhodjaev, Nasir, et al.
Published: (2013)

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
by: Mohammad, Mardhiah, et al.
Published: (2014)

Nicotine replacement therapy in pregnancy and major congenital anomalies in offspring
by: Dhalwani, Nafeesa N., et al.
Published: (2015)

Study to evaluate the prevalence, importance, and treatment of women with congenital uterine anomalies
by: Chan, Yee Yin
Published: (2019)

Segmenting the right ventricle cavity from 4D echocardiography images for stroke volume measurement
by: Abboud, Anas A.
Published: (2014)

Benchmark Studies on Multi-Objective Evolutionary Programming (MOEP) using Mutation Based on Adaptive Mutation Operator (AMO) and Polynomial Mutation Operator (PMO)
by: Mahaletchumi, Morgan, et al.
Published: (2015)

Minimality and mutation-equivalence of polygons
by: Kasprzyk, Alexander M., et al.
Published: (2017)

Craniofacial morphology of class III malocclusion with DUSP6 gene: Mutation and non-mutation groups
by: Nowrin, Shifat A, et al.
Published: (2016)

Elucidating the role of Cdk13 and Prkd1 in heart development and congenital heart disease
by: Waheed Ullah, Qazi
Published: (2024)

Dose reduction using care dose4d technique of siemens dual-source computed tomography on pediatric congenital heart disease
by: Chen, HongYing
Published: (2022)

TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons
by: Ngo, L., et al.
Published: (2014)

Molecular characterisation of the SNAKESKIN mutation in Arabidopsis
by: Eland, Cathlene
Published: (2004)

Mutations of fake weighted projective spaces
by: Coates, Tom, et al.
Published: (2014)

Mutations of fake weighted projective planes
by: Akhtar, Mohammad, et al.
Published: (2016)

Mutation and chaos in nonlinear models of heredity
by: Ganikhodjaev, Nasir
Published: (2013)

On rare mutation, chaos and Darwin’s theory
by: Ganikhodjaev, Nasir, et al.
Published: (2014)

Mutation and chaos in nonlinear models of heredity
by: Ganikhodjaev, Nasir, et al.
Published: (2014)

Graphology Mutation 25: the authenticity of ploughing
by: Kinsella, John
Published: (2015)

Crossover and mutation operators of genetic algorithms
by: Lim, Siew Mooi, et al.
Published: (2017)

Crossover and mutation operators of genetic algorithms
by: Siew, Mooi Lim, et al.
Published: (2017)

Epidermal growth factor receptor (EGFR) mutations are the main oncogenic driver mutation in adenocarcinoma in never-smokers - findings from the emlan study
by: Liam, Chong Kin, et al.
Published: (2012)

Improving enzyme catalysis through the improvement of binding strength: simulated mutation to predict the mutational effect on Xylanase Cex
by: Noorbatcha, Ibrahim Ali, et al.
Published: (2011)