Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Background: Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is...

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Detalhes bibliográficos
Autor principal: Cristo, F. (author)
Outros Autores: Inácio, J.M. (author), de Almeida, S. (author), Mendes, P. (author), Martins, D.S. (author), Maio, J. (author), Anjos, R. (author), Belo, J.A. (author)
Formato: article
Idioma:eng
Publicado em: 2017
Assuntos:
Allelic variation
Congenital Heart Diseases
DAND5
Laterality defects
Nodal signaling
DAND5 protein, human
NODAL protein, human
protein Nodal
signal peptide
congenital heart malformation
female
genetic association study
genetic predisposition
genetics
genotype
heart septum defect
human
male
mutation
pathophysiology
phenotype
signal transduction
single nucleotide polymorphism
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Heart Defects, Congenital
Heart Septal Defects, Ventricular
Humans
Intercellular Signaling Peptides and Proteins
Male
Mutation
Nodal Protein
Phenotype
Polymorphism, Single Nucleotide
Signal Transduction
SDG 3 - Good Health and Well-being
Texto completo:https://doi.org/10.1186/s12881-017-0444-1
País:Portugal
Oai:oai:run.unl.pt:10362/24608

Texto Completo

https://doi.org/10.1186/s12881-017-0444-1

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