Cargando…

c.620C>T mutation in GATA4 is associated with congenital heart disease in South India

BACKGROUND: Congenital heart diseases (CHDs) usually refer to abnormalities in the structure and/or function of the heart that arise before birth. GATA4 plays an important role in embryonic heart development, hence the aim of this study was to find the association of GATA4 mutations with CHD among t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mattapally, Saidulu, Nizamuddin, Sheikh, Murthy, Kona Samba, Thangaraj, Kumarasamy, Banerjee, Sanjay K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422155/ https://www.ncbi.nlm.nih.gov/pubmed/25928801 http://dx.doi.org/10.1186/s12881-015-0152-7

Ejemplares similares

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)

CYP2C9 Variations and Their Pharmacogenetic Implications Among Diverse South Asian Populations
por: Nizamuddin, Sheikh, et al.
Publicado: (2021)

c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians
por: Ganesan, Mala, et al.
Publicado: (2016)

Hyperglycaemia Enhances Nitric Oxide Production in Diabetes: A Study from South Indian Patients
por: Adela, Ramu, et al.
Publicado: (2015)

Genomic view on the peopling of India
por: Tamang, Rakesh, et al.
Publicado: (2012)

Deciphering the West Eurasian Genetic Footprints in Ancient South India
por: Ahlawat, Bhavna, et al.
Publicado: (2023)

Identification of Functional Mutations in GATA4 in Patients with Congenital Heart Disease
por: Wang, Erli, et al.
Publicado: (2013)

GATA4 transgenic mice as an in vivo model of congenital heart disease
por: HAN, HUA, et al.
Publicado: (2015)

Correction: Maturation of three-dimensional, hiPSC-derived cardiomyocyte spheroids utilizing cyclic, uniaxial stretch and electrical stimulation
por: LaBarge, Wesley, et al.
Publicado: (2019)

Novel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations
por: Chao, Christina S., et al.
Publicado: (2015)

The PTPN22 C1858T (R620W) functional polymorphism in inflammatory bowel disease
por: Zaid, Younes, et al.
Publicado: (2018)

MON-620 Ademolus Hypoglycemic Index
por: Ademolu, Adegbenga Bolanle
Publicado: (2020)

Congenital Heart Disease–Causing Gata4 Mutation Displays Functional Deficits In Vivo
por: Misra, Chaitali, et al.
Publicado: (2012)

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease
por: Abbasi, Shiva, et al.
Publicado: (2021)

Human Leukocyte Antigen Class I and II Knockout Human Induced Pluripotent Stem Cell–Derived Cells: Universal Donor for Cell Therapy
por: Mattapally, Saidulu, et al.
Publicado: (2018)

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
por: Yoshioka, Wakako, et al.
Publicado: (2022)

Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
por: Reamon-Buettner, Stella Marie, et al.
Publicado: (2007)

A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
por: Eifes, Serge, et al.
Publicado: (2013)

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease
por: Zhang, Xiaoqing, et al.
Publicado: (2016)

Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis
por: Zhang, Yanwei, et al.
Publicado: (2017)

Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation
por: Qian, Yanyan, et al.
Publicado: (2017)

Guidelines for the management of common congenital heart diseases in India: A consensus statement on indications and timing of intervention()
por: Saxena, Anita, et al.
Publicado: (2019)

Synthesis of C(3)-symmetric star-shaped molecules containing α-amino acids and dipeptides via Negishi coupling as a key step
por: Kotha, Sambasivarao, et al.
Publicado: (2019)

GATA4 and GATA5 are essential for heart and liver development in Xenopus embryos
por: Haworth, Kim E, et al.
Publicado: (2008)

620. Development and Validation of a Novel qPCR Assay for Differentiation of Common Candida Pathogens including C. auris
por: Thomas, Clayton, et al.
Publicado: (2023)

IL10 Variant g.5311A Is Associated with Visceral Leishmaniasis in Indian Population
por: Mishra, Anshuman, et al.
Publicado: (2015)

Functional analysis of the congenital heart disease-associated GATA4 H436Y mutation in vitro
por: Fang, Tao, et al.
Publicado: (2019)

MCTS 70-620: Microsoft Windows Vista, configuring
por: Regan, Patrick E
Publicado: (2008)

Microsoft Windows Vista Exam 70-620 Guide
por: Crayton, Christopher
Publicado: (2007)

Mutations of TFAP2B in congenital heart disease patients in Mysore, South India
por: Lingaiah, Kusuma, et al.
Publicado: (2011)

SARS-CoV-2 B.1.619 and B.1.620 Lineages, South Korea, 2021
por: Park, Ae Kyung, et al.
Publicado: (2022)

Management of congenital heart disease
por: Murthy, Raghav A.
Publicado: (2020)

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
por: Quedas, Elisangela P. S., et al.
Publicado: (2012)

No evidence for association of PTPN22 R620W functional variant C1858T with type 1 diabetes in Asian Indians
por: Baniasadi, V, et al.
Publicado: (2008)

A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM)
por: Rani, Deepa Selvi, et al.
Publicado: (2014)

Gata4-Dependent Differentiation of c-Kit(+)–Derived Endothelial Cells Underlies Artefactual Cardiomyocyte Regeneration in the Heart
por: Maliken, Bryan D., et al.
Publicado: (2018)

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

Gestational palmitic acid suppresses embryonic GATA-binding protein 4 signaling and causes congenital heart disease
por: Zhao, Rui, et al.
Publicado: (2023)

Design and synthesis of C(3)-symmetric molecules bearing propellane moieties via cyclotrimerization and a ring-closing metathesis sequence
por: Kotha, Sambasivarao, et al.
Publicado: (2018)

The Real MCTS/MCITP Exam 70-620 Prep Kit
por: Piltzecker, Anthony
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_jo08ekva60hdhtssvco8rit5m7