Zobrazeno 1 - 10
of 153
pro vyhledávání: '"RAPSN"'
Autor:
Zhiping Zhang, Xueluo Zhang, Huiqin Xue, Liming Chu, Lina Hu, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, Jiayao Chen, Xiangrong Cui, Lingyin Kong, Bo Liang, Xueqing Wu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Background Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%–27% of all CMS cases. Whether preimplantati
Externí odkaz:
https://doaj.org/article/c274cddcd5f54fd8a9429ea51de76c54
Publikováno v:
Cancer Management and Research, Vol Volume 12, Pp 11063-11075 (2020)
Rong Qiao,1,* Feifei Di,2,* Jun Wang,2 Yujie Wei,2 Yanman Zhang,2 Tian Xu,3 Yue Wang,1 Wanjian Gu,3 Baohui Han,1 Rongxi Yang2,4 1Department of Pulmonary Medicine, Shanghai Chest Hospital, Shanghai Jiaotong University, Shanghai 200030, People’s Repu
Externí odkaz:
https://doaj.org/article/6a6261940cc647b99a0183a6b0357518
Akademický článek
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Akademický článek
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Autor:
Maki Saito, Yuka Misawa, Ken Imai, Aritoshi Iida, Shoko Yamauchi, Makoto Nishioka, Mitsuo Motobayashi, Masashi Ogasawara, Ichizo Nishino, Shihoko Takeuchi, Yoshihiro Osawa, Yuji Inaba, Kana Atsumi
Publikováno v:
Brain and Development. 44:50-55
Background Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous neuromuscular disorder characterized by muscle weakness and caused by mutations in more than 35 different genes. This condition should not be overlooked as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b024bc7ab5e5aec412ed202e30fa9081
https://doi.org/10.1016/j.braindev.2021.09.001
https://doi.org/10.1016/j.braindev.2021.09.001
Autor:
Lixi Li, Fei Ma, Wenjie Zhou, Wanjian Gu, Rongxi Yang, Shuifang Lei, Xiaoqin Yang, Tian Xu, Qiming Yin
Publikováno v:
Journal of Human Genetics. 66:1069-1078
DNA methylation in peripheral blood is associated with breast cancer (BC) but has mainly been studied in Caucasian populations. We investigated the association between blood-based methylation of receptor-associated protein of the synapse (RAPSN) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2824088d1ceebc90cc7eb78ce3f5652c
https://doi.org/10.1038/s10038-021-00933-x
https://doi.org/10.1038/s10038-021-00933-x
Akademický článek
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Autor:
Mingjie Zhang, Guanhua Bai
Publikováno v:
Neuron. 109:1907-1909
In this issue of Neuron, Xing et al. (2021) demonstrate that the multidomain scaffold protein Rapsn can form dense molecular condensates in vitro and in vivo via phase separation. The formation of Rapsn condensates is essential for clustering acetylc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::468f707f7d3ce026762809c182758594
https://doi.org/10.1016/j.neuron.2021.05.024
https://doi.org/10.1016/j.neuron.2021.05.024
Autor:
Rongxi Yang, Yue Wang, Baohui Han, Rong Qiao, Yanman Zhang, Tian Xu, Feifei Di, Yujie Wei, Jun Wang, Wanjian Gu
Publikováno v:
Cancer Management and Research. 12:11063-11075
Background Early detection is essential to improve the survival and life quality of lung cancer (LC) patients. Changes of peripheral blood DNA methylation could be associated with malignancy but were mostly studied in Caucasians. Methods Here, in a C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6f1600a1b5428280dc246e1290e3b9e
https://doi.org/10.2147/cmar.s275321
https://doi.org/10.2147/cmar.s275321
Autor:
Vorasuk Shotelersuk, Ponghatai Boonsimma, Kanya Suphapeetiporn, Kanokwan Boonyapisit, Oranee Sanmaneechai, Chupong Ittiwut, Chaiyos Khongkhatithum, Nalinee Pattrakornkul
Publikováno v:
Neuromuscular Disorders. 30:851-858
Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of genetic disorders of the neuromuscular junction. Next generation sequencing has been increasingly used for molecular diagnosis in CMS patients. This study aimed to identify the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea4ebd8e92b9a2ae4be5381557abb75
https://doi.org/10.1016/j.nmd.2020.08.362
https://doi.org/10.1016/j.nmd.2020.08.362