Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Shirley Aparecida Madureira Sampaio"'
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
https://doi.org/10.1038/s41436-020-01003-x
Autor:
Justin Branch, Zachry T. Soens, Evan M Jones, Rui Chen, Isadora F. G. Sena, Fernanda Belga Ottoni Porto, Shirley Aparecida Madureira Sampaio, Igor Mendes Maia, Renata T Simões
Publikováno v:
Genes, Vol 8, Iss 12, p 355 (2017)
Genes
Genes; Volume 8; Issue 12; Pages: 355
Genes
Genes; Volume 8; Issue 12; Pages: 355
Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4392718f5c1cbf3685c187a2a8d65d78
https://www.mdpi.com/2073-4425/8/12/355
https://www.mdpi.com/2073-4425/8/12/355