Zobrazeno 1 - 10
of 40
pro vyhledávání: '"José M. Inácio"'
Autor:
José M. Inácio, Fernando Cristo, Miguel Pinheiro, Francisco Vasques-Nóvoa, Francisca Saraiva, Mafalda M. Nunes, Graça Rosas, Andreia Reis, Rita Coimbra, José Luís Oliveira, Gabriela Moura, Adelino Leite-Moreira, José António Belo
Publikováno v:
Biomedicines, Vol 11, Iss 8, p 2131 (2023)
Heart failure with preserved ejection fraction (HFpEF) represents a global health challenge, with limited therapies proven to enhance patient outcomes. This makes the elucidation of disease mechanisms and the identification of novel potential therape
Externí odkaz:
https://doaj.org/article/3e7bffb6132c40ad8cf0be01b13c04b5
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
The collagen- and calcium-binding EGF-like domains 1 (CCBE1) is a secreted protein extensively described as indispensable for lymphangiogenesis during development enhancing VEGF-C signaling. In human patients, mutations in CCBE1 have been found to ca
Externí odkaz:
https://doaj.org/article/bb441ed36e16470799900c43ed065fb6
Publikováno v:
Cells, Vol 12, Iss 4, p 520 (2023)
(1) Background: The contribution of gene-specific variants for congenital heart disease, one of the most common congenital disabilities, is still far from our complete understanding. Here, we applied a disease model using human-induced pluripotent st
Externí odkaz:
https://doaj.org/article/d928265678cc4ac6a510969f8680e5c9
Publikováno v:
Stem Cell Research, Vol 42, Iss , Pp - (2020)
Human induced pluripotent stem cells (hiPSCs) from individual patient basis are considered a powerful resource to model human diseases. However, to study complex multigenic diseases such as Congenital Heart Disease, it is crucial to generate perfect
Externí odkaz:
https://doaj.org/article/9a510d1adfe347b8897a650576e21f45
Autor:
Selin Pars, Fernando Cristo, José M. Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Patrícia Mendes, Duarte Saraiva Martins, Luís Pereira de Almeida, José Maio, Rui Anjos, José A. Belo
Publikováno v:
Stem Cell Research, Vol 29, Iss , Pp 202-206 (2018)
A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vit
Externí odkaz:
https://doaj.org/article/d4165075489f4a8cbd30edac48fd963a
Autor:
Fernando Cristo, José M. Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Luís Pereira de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A. Belo
Publikováno v:
Stem Cell Research, Vol 25, Iss C, Pp 152-156 (2017)
A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated wit
Externí odkaz:
https://doaj.org/article/225a04f8ed24453ebb2bf1247699c20d
Autor:
Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A. Belo
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract 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 CH
Externí odkaz:
https://doaj.org/article/184c971cca324b0da5b386ef90549b05
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 4, Iss 4, p 23 (2017)
The formation of the asymmetric left-right (LR) body axis is one of the fundamental aspects of vertebrate embryonic development, and one still raising passionate discussions among scientists. Although the conserved role of nodal is unquestionable in
Externí odkaz:
https://doaj.org/article/0d8f248c70c04de8ae1ca10138252939
Publikováno v:
Current Stem Cell Research & Therapy. 18
Background: Dand5 encodes a protein that acts as an antagonist to Nodal/TGF-β and Wnt pathways. A mouse knockout (KO) model has shown that this molecule is associated with left-right asymmetry and cardiac development, with its depletion causing hete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::256f68453039ed013d40e2e7ea6fec13
https://doi.org/10.2174/1574888x18666230516154113
https://doi.org/10.2174/1574888x18666230516154113
Autor:
Mythily, Ganapathi, Christie M, Buchovecky, Fernando, Cristo, Priyanka, Ahimaz, Carrie, Ruzal-Shapiro, Karen, Wou, José M, Inácio, Alejandro, Iglesias, José A, Belo, Vaidehi, Jobanputra
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c57c6dad00d2274a78b1bb94d8957e38
https://pubmed.ncbi.nlm.nih.gov/36316122
https://pubmed.ncbi.nlm.nih.gov/36316122