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

Detalhes bibliográficos
Autor(a) principal: Cristo, F
Data de Publicação: 2017
Outros Autores: Inácio, JM, Almeida, S, Mendes, P, Martins, DS, Maio, J, Anjos, R, Belo, JA
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/2895
Resumo: 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.
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spelling Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality DefectsFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHeart Defects, CongenitalHeart Septal Defects, VentricularHumansIntercellular Signaling Peptides and ProteinsMaleMutationNodal ProteinPhenotypePolymorphism, Single NucleotideSignal TransductionHDE GENPerturbations 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.BioMed CentralRepositório do Centro Hospitalar Universitário de Lisboa Central, EPECristo, FInácio, JMAlmeida, SMendes, PMartins, DSMaio, JAnjos, RBelo, JA2018-02-15T10:32:38Z20172017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2895engBMC Med Genet. 2017 Jul 24;18(1):7710.1186/s12881-017-0444-1info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:40:12Zoai:repositorio.chlc.min-saude.pt:10400.17/2895Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:13.449040Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
title Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
spellingShingle Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
Cristo, F
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
title_short Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
title_full Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
title_fullStr Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
title_full_unstemmed Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
title_sort Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects
author Cristo, F
author_facet Cristo, F
Inácio, JM
Almeida, S
Mendes, P
Martins, DS
Maio, J
Anjos, R
Belo, JA
author_role author
author2 Inácio, JM
Almeida, S
Mendes, P
Martins, DS
Maio, J
Anjos, R
Belo, JA
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Cristo, F
Inácio, JM
Almeida, S
Mendes, P
Martins, DS
Maio, J
Anjos, R
Belo, JA
dc.subject.por.fl_str_mv 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
topic 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
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.
publishDate 2017
dc.date.none.fl_str_mv 2017
2017-01-01T00:00:00Z
2018-02-15T10:32:38Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/2895
url http://hdl.handle.net/10400.17/2895
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv BMC Med Genet. 2017 Jul 24;18(1):77
10.1186/s12881-017-0444-1
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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