Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects

• Author(s): Cristo, F ; Inácio, JM ; Almeida, S ; Mendes, P ; Martins, DS ; Maio, J ; Anjos, R ; Belo, JA
• Date: 2017
• Persistent ID: http://hdl.handle.net/10400.17/2895
• Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Subject(s): 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; HDE GEN
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório da Unidade Local de Saúde São José

Description

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 linked with variants of genes involved in the Nodal signaling pathway.