Generation of genetically modified human induced pluripotent stem cell lines harboring haploin sufficient or dominant negative variants in the FBN1 gene

Autor: Juliana Borsoi, Luis Ernesto Farinha-Arcieri, Mariana Morato-Marques, Raquel Delgado Sarafian, Mara Pinheiro, Lygia Veiga Pereira

Publikováno v: Stem Cell Research, Vol 54, Iss , Pp 102434- (2021)

Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. To investigate the molecular mechanisms of pathogenesis for the syndrome, we genetically modified the FBN1 gene in a line of induced pluri

Externí odkaz: https://doaj.org/article/915c3a787a394e8b93385394b24c3eb7

Parenteral adjuvant effects of an enterotoxigenic Escherichia coli (ETEC) natural heat-labile toxin variant

Autor: Catarina Joelma Magalhães Braga, Juliana Falcão Rodrigues, Yordanka eMedina-Armenteros, Luis Ernesto Farinha-Arcieri, Armando Morais Ventura, Silvia Beatriz Boscardin, Maria Elisabete Sbrogio-Almeida, Luis Carlos de Souza Ferreira

Publikováno v: Frontiers in Immunology, Vol 4 (2014)

Native type I heat-labile toxins (LTs) produced by enterotoxigenic Escherichia coli (ETEC) strains exert strong adjuvant effects on both antibody and T cell responses to soluble and particulate antigens following co-administration via mucosal routes.

Externí odkaz: https://doaj.org/article/6d8417a14ea443be81a09d24f3ddfcce

Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients

Autor: Lucas Assis Pereira, Fabiano de Araújo Tofoli, Lygia da Veiga Pereira, Mariana Morato-Marques, Juliana Borsoi, Raquel Delgado Sarafian, Luis Ernesto Farinha-Arcieri, Ana Beatriz Alvarez Perez

Publikováno v: Stem Cell Research, Vol 54, Iss, Pp 102407-(2021)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Marfan Syndrome (MFS) is a pleiotropic and autosomal dominant condition caused by pathogenic variants in FBN1. Although fully penetrant, clinical variability is frequently observed among patients and there are only few genotype-phenotype correlations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deab36465866b3ad7df6cccdbd4899f6
http://www.sciencedirect.com/science/article/pii/S1873506121002531

The mgΔ

Autor: Rodrigo Barbosa de, Souza, Isabela Gerdes, Gyuricza, Luara Lucena, Cassiano, Luis Ernesto, Farinha-Arcieri, Ana Maria, Alvim Liberatore, Sheila, Schuindt do Carmo, Waldir, Caldeira, Marcio V, Cruz, Alberto F, Ribeiro, Roberto Carlos, Tedesco, Dieter P, Reinhardt, Ricardo, Smith, Ivan Hong, Jun Koh, Lygia V, Pereira

Publikováno v: Experimental eye research. 204

Fibrillin-1 and -2 are major components of tissue microfibrils that compose the ciliary zonule and cornea. While mutations in human fibrillin-1 lead to ectopia lentis, a major manifestation of Marfan syndrome (MFS), in mice fibrillin-2 can compensate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e8aaa40fbfd3f366b09db57ebb9a298
https://pubmed.ncbi.nlm.nih.gov/33516761

Association of thoracic spine deformity and cardiovascular disease in a mouse model for Marfan syndrome

Autor: Ana Martins, Lygia da Veiga Pereira, Luis Ernesto Farinha-Arcieri, Roberto Tedesco, Luis Garcia Alonso, Ivan Hong Jun Koh, M. H. B Catroxo, Rodrigo Barbosa de Souza

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
PLoS ONE
PLoS ONE, Vol 14, Iss 11, p e0224581 (2019)

Aims Cardiovascular manifestations are a major cause of mortality in Marfan syndrome (MFS). Animal models that mimic the syndrome and its clinical variability are instrumental for understanding the genesis and risk factors for cardiovascular disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68eff8e616d1a42901defe58a06000c6