Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Autor: Chinthana Thangavel, Gavin Arno, Renae Elaine Bertrand, Rui Chen, Anthony G. Robson, Renata T Simões, Qingnan Liang, Jun Wang, Kaitlyn H. Xiong, Fernanda Belga Ottoni Porto, Xinye Qian, Rola Ba-Abbad, Keren J. Carss, F. Lucy Raymond, Andrew R. Webster, Shirley Aparecida Madureira Sampaio

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

Purpose Previous studies suggest that ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. However, no pathogenic variant in ceramide synthases has been identified in human pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1702ebb4485c30cd34b4966ee371e5c9
https://doi.org/10.1038/s41436-020-01003-x

Influência do HPV-16 sobre a produção intralesionalde IL-10 em mulheres imunogeneticamente responsivas e portadoras do HIV-1

Autor: Ana Paula M. Fernandes, Maria Alice G. Gonçalves, Renata T. Simões, Silvana Maria Quintana, Geraldo Duarte, Eduardo A. Donadi

Publikováno v: DST, Vol 16, Iss 3 (2004)

Introdução: a infecção pelo papilomavírus humano (HPV) do tipo 16, constitui importante fator de risco para o desenvolvimento do câncer cervical.Citocinas são importantes na resposta imune contra infecções virais. Geneticamente determinadas,

Externí odkaz: https://doaj.org/article/c824a678d40c4966bccb45627a991b45

Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance

Autor: Mingchu Xu, Hui Li, Yumei Li, Peiquan Zhao, Irma Lopez-Solache, Radwan Ajlan, Fabiana Louise Motta, Robert K. Koenekoop, Juliana Maria Ferraz Sallum, Lavan Rajan, Keqing Wang, Shijing Wu, Rui Chen, David G. Birch, Justin Branch, Renata T Simões, Ruifang Sui, Zachry T. Soens, Fernanda Belga Ottoni Porto, Zhisheng Yuan

Publikováno v: Human Mutation. 38:1521-1533

The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here we evaluated how many

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca222e28c35efbc26650ff588537cc56
https://doi.org/10.1002/humu.23294

Human Leukocyte Antigen-G Is Frequently Expressed in Glioblastoma and May Be Induced in Vitro by Combined 5-Aza-2′-Deoxycytidine and Interferon-γ Treatments

Autor: Isabelle Poras, Philippe Moreau, Samuel Valable, Stine Skov Jensen, Edgardo D. Carosella, Soldano Ferrone, Layale Yaghi, Isabela J. Wastowski, Bjarne Winther Kristensen, Emmanuèle Lechapt-Zalcman, João T Pancoto, Myriam Bernaudin, Eduardo Antônio Donadi, Carlos Gilberto Carlotti, Sébastien Flajollet, Renata T Simões

Publikováno v: American Journal of Pathology
American Journal of Pathology, American Society for Investigative Pathology, 2013, 182 (2), pp.540-552. ⟨10.1016/j.ajpath.2012.10.021⟩
American Journal of Pathology, 2013, 182 (2), pp.540-552. ⟨10.1016/j.ajpath.2012.10.021⟩

Human leukocyte antigen-G (HLA-G) is a nonclassical major histocompatibility complex (MHC) class I molecule involved in immune tolerance processes, playing an important role in the maintenance of the semi-allogeneic fetus. Although HLA-G expression i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d019ecf2e3c6a95516daa21bed541124

Human leukocyte antigen-G is frequently expressed in glioblastoma and may be induced in vitro by combined 5-aza-2'-deoxycytidine and interferon-γ treatments: results from a multicentric study

Autor: Isabela J, Wastowski, Renata T, Simões, Layale, Yaghi, Eduardo A, Donadi, João T, Pancoto, Isabelle, Poras, Emmanuèle, Lechapt-Zalcman, Myriam, Bernaudin, Samuel, Valable, Carlos G, Carlotti, Sébastien, Flajollet, Stine S, Jensen, Soldano, Ferrone, Edgardo D, Carosella, Bjarne W, Kristensen, Philippe, Moreau

Publikováno v: The American journal of pathology. 182(2)

Human leukocyte antigen-G (HLA-G) is a nonclassical major histocompatibility complex (MHC) class I molecule involved in immune tolerance processes, playing an important role in the maintenance of the semi-allogeneic fetus. Although HLA-G expression i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4139c5e8a7325f7dc80b8d3285777d17
https://pubmed.ncbi.nlm.nih.gov/23219427