Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Renae Elaine Bertrand"'
Autor:
Nathaniel Wu, Keqing Wang, Hehe Liu, Yumei Li, Shangyi Fu, Renae Elaine Bertrand, Rui Chen, Jun Wang, Smriti Agrawal Zaneveld, Qingnan Liang
Publikováno v:
Hum Mol Genet
Much of the complexity of the eukaryotic cell transcriptome is due to the alternative splicing of mRNA. However, knowledge on how transcriptome complexity is translated into functional complexity remains limited. For example, although different isofo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7424a45ec012aa2f81e7899c47b282c
https://doi.org/10.1093/hmg/ddab157
https://doi.org/10.1093/hmg/ddab157
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:
Alejandro Sarrion-Perdigones, Rui Chen, Yezabel Gonzalez, Koen J. T. Venken, Renae Elaine Bertrand, Jun Wang, Hehe Liu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: To achieve the ultimate goal of personalized treatment of patients, accurate molecular diagnosis and precise interpretation of the impact of genetic variants on gene function is essential. With the sequencing cost becoming increasingly affor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e967833743170b20d7841b2b71cbbd
http://europepmc.org/articles/PMC7796914
http://europepmc.org/articles/PMC7796914
Autor:
Xuesen Cheng, Peter Stoilov, Rui Chen, Renae Elaine Bertrand, Yumei Li, Keqing Wang, Jun Wang
Publikováno v:
Hum Mol Genet
Previous in vitro studies indicate that CWC27 functions as a splicing factor in the Bact spliceosome complex, interacting with CWC22 to form a landing platform for eIF4A3, a core component of the exon junction complex. However, the function of CWC27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9955a9ebe3c92ee951ac925dc89c87fc
https://pubmed.ncbi.nlm.nih.gov/34726245
https://pubmed.ncbi.nlm.nih.gov/34726245
Autor:
Keqing Wang, Qingnan Liang, Jacques Zaneveld, Rui Chen, Quynh Nguyen, Smriti Agrawal Zaneveld, Yumei Li, Renae Elaine Bertrand, Nathaniel Wu, Hehe Liu, Aiden Eblimit
Publikováno v:
Human gene therapy. 30(3)
Hereditary retinal dystrophy is clinically defined as a broad group of chronic and progressive disorders that affect visual function by causing photoreceptor degeneration. Previously, we identified mutations in the gene encoding receptor expression-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639076e84ea5bbec10285f5484a153e1
https://pubmed.ncbi.nlm.nih.gov/30101608
https://pubmed.ncbi.nlm.nih.gov/30101608