Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales:	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, J David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Inc 2012
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370385/ https://www.ncbi.nlm.nih.gov/pubmed/22011241 http://dx.doi.org/10.1111/j.1747-0803.2011.00573.x

Ejemplares similares

Association of NKX2‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children
por: Behiry, Eman G., et al.
Publicado: (2019)

Cardiac Gene Activation Analysis in Mammalian Non-Myoblasic Cells by Nkx2-5, Tbx5, Gata4 and Myocd
por: Zhou, Lei, et al.
Publicado: (2012)

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects
por: England, Jennifer, et al.
Publicado: (2017)

Comparative Analysis of Nkx2-5/GATA4/TBX5 Expression in Chicken, Quail and Chicken-quail Hybrids during the Early Stage of Cardiac Development in Embryos
por: Ban, Qian, et al.
Publicado: (2013)

Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation
por: Mattapally, Saidulu, et al.
Publicado: (2018)

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
por: Porto, Marianna P. R., et al.
Publicado: (2010)

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis
por: van Engelen, Klaartje, et al.
Publicado: (2012)

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
por: Böhm, Johann, et al.
Publicado: (2008)

NKX2-5 Regulates the Expression of β-Catenin and GATA4 in Ventricular Myocytes
por: Riazi, Ali M., et al.
Publicado: (2009)

Inhibition of Gata4 and Tbx5 by Nicotine-Mediated DNA Methylation in Myocardial Differentiation
por: Jiang, Xue-Yan, et al.
Publicado: (2017)

Cardiac Actions of a Small Molecule Inhibitor Targeting GATA4–NKX2-5 Interaction
por: Kinnunen, Sini M., et al.
Publicado: (2018)

Investigation of somatic NKX2-5 mutations in congenital heart disease
por: Draus, J M, et al.
Publicado: (2009)

Identification of NKX2-5 and GATA4 sequence variations in patients with cardiac septation defects
por: Borkar, Yashvanthi, et al.
Publicado: (2014)

Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation
por: Wang, Zhan-Cheng, et al.
Publicado: (2016)

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
por: Soemedi, Rachel, et al.
Publicado: (2012)

CHD4 is recruited by GATA4 and NKX2-5 to repress noncardiac gene programs in the developing heart
por: Robbe, Zachary L., et al.
Publicado: (2022)

Mutational Spectrum of the NKX2-5 Gene in Patients with Lone Atrial Fibrillation
por: Yu, Hong, et al.
Publicado: (2014)

Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation
por: Xie, Wen-Hui, et al.
Publicado: (2013)

NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity
por: Abou Hassan, Ossama K., et al.
Publicado: (2015)

DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot
por: Sheng, Wei, et al.
Publicado: (2013)

Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease
por: Zheng, Jiayi, et al.
Publicado: (2015)

GATA5 loss-of-Function Mutations Underlie Tetralogy of Fallot
por: Wei, Dong, et al.
Publicado: (2012)

Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation
por: Jiang, Run-Song, et al.
Publicado: (2012)

NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets
por: Bouveret, Romaric, et al.
Publicado: (2015)

Nuclear Receptor-Like Structure and Interaction of Congenital Heart Disease-Associated Factors GATA4 and NKX2-5
por: Kinnunen, Sini, et al.
Publicado: (2015)

Synthesis, Identification, and Structure–Activity Relationship Analysis of GATA4 and NKX2-5 Protein–Protein Interaction Modulators
por: Jumppanen, Mikael, et al.
Publicado: (2019)

MON-726 Modifications of FOXO1 and GATA4-NKX2.5 Signaling Induce Human Enteroendocrine Differentiation
por: Zeve, Daniel Richard, et al.
Publicado: (2020)

HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1
por: Ghosh, Tushar K., et al.
Publicado: (2019)

Stoichiometric optimization of Gata4, Hand2, Mef2c, and Tbx5 expression for contractile cardiomyocyte reprogramming
por: Zhang, Zhentao, et al.
Publicado: (2019)

Expression of Sumoylation Deficient Nkx2.5 Mutant in Nkx2.5 Haploinsufficient Mice Leads to Congenital Heart Defects
por: Kim, Eun Young, et al.
Publicado: (2011)

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
por: Ríos-Serna, Lady J, et al.
Publicado: (2018)

Art27 Interacts with GATA4, FOG2 and NKX2.5 and Is a Novel Co-Repressor of Cardiac Genes
por: Carter, Daniel R., et al.
Publicado: (2014)

Transgenic mice with mutations in Nkx2.5 gene: animal model proposal to study non compaction
por: Frandon, Julien, et al.
Publicado: (2016)

Existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot
por: Kheirollahi, Majid, et al.
Publicado: (2016)

Tbx4 and Tbx5 acting in connective tissue are required for limb muscle and tendon patterning
por: Hasson, Peleg, et al.
Publicado: (2010)

Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
por: Aherne, Noel J., et al.
Publicado: (2013)

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
por: Al-Qattan, Mohammad M., et al.
Publicado: (2015)

Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation
por: Gu, Jian-Yun, et al.
Publicado: (2012)

Multiple Roles and Interactions of Tbx4 and Tbx5 in Development of the Respiratory System
por: Arora, Ripla, et al.
Publicado: (2012)

The Cardiac Transcription Network Modulated by Gata4, Mef2a, Nkx2.5, Srf, Histone Modifications, and MicroRNAs
por: Schlesinger, Jenny, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_2knokcv6asj8fde5bgu192q0s1