Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects
High prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affected cardiovascular tissue of patients with isolated cardiac septal defects, suggesting a role of somatic mutations in the pathogenesis of these congenital heart defects (CHD...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2011
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/24009
- Acceso en línea:
- https://doi.org/10.1016/j.ejmg.2011.01.004
https://repository.urosario.edu.co/handle/10336/24009
- Palabra clave:
- Formaldehyde
Transcription factor gata 4
Transcription factor nkx2.5
Article
Clinical article
Cohort analysis
Congenital heart disease
Controlled study
Female
Gene mutation
Gene sequence
Genetic polymorphism
Genetic variability
Heart
Heart septum defect
Human
Human cell
Human tissue
Hypothesis
Male
Pathology
Adolescent
Child
Cohort studies
Dna mutational analysis
Female
Frozen sections
Gata4 transcription factor
Heart septal defects
Homeodomain proteins
Humans
Infant
Male
Mutation
Myocardium
Transcription factors
Young adult
Cardiac septal defect
Congenital heart disease
Gata4
Nkx2.5
Somatic mutations
single nucleotide
preschool
newborn
missense
Child
Infant
Mutation
Polymorphism
- Rights
- License
- Abierto (Texto Completo)