Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Yi-Dan Liu"'
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
POMGNT1, encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1, is one of the genes responsible for dystroglycanopathy (DGP), which includes multiple phenotypes such as muscle-eye-brain disease (MEB), congenital muscular dystrophy wit
Externí odkaz:
https://doaj.org/article/5761412c3b924a91bb268dcd88563e21
Autor:
Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessiv
Externí odkaz:
https://doaj.org/article/0b05b60633cd47a9b8afdb706ab9e62a
Autor:
Xiao-Yu Chen, Dan-Yu Song, Li Jiang, Dan-Dan Tan, Yi-Dan Liu, Jie-Yu Liu, Xing-Zhi Chang, Guo-Gang Xing, Tatsushi Toda, Hui Xiong
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveAlpha-dystroglycanopathy (α-DGP) is a subtype of muscular dystrophy caused by defects in the posttranslational glycosylation of α-dystroglycan (α-DG). Our study aimed to summarize the clinical and genetic features of POMT2-related α-DGP
Externí odkaz:
https://doaj.org/article/86eaa752ab9d45f5a00cfd625336073e
Autor:
Yi-Dan Liu, Meng-Yu Ma, Xi-Bin Hu, Huan Yan, Yan-Ke Zhang, Hao-Xiang Yang, Jing-Hui Feng, Lin Wang, Hao Zhang, Bin Zhang, Qiu-Bo Li, Jun-Chen Zhang, Qing-Xia Kong
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Tuberous sclerosis complex (TSC) is a genetic disease characterized by seizures, mental deficiency, and abnormalities of the skin, brain, kidney, heart, and lungs. TSC is inherited in an autosomal dominant manner and is caused by variations in either
Externí odkaz:
https://doaj.org/article/ca781d439f5242a0a8c7f681dcd1fa24
Autor:
Cheng-Kun Deng, Zhi-Hao Mu, Yi-He Miao, Yi-Dan Liu, Lei Zhou, Yong-Jie Huang, Fan Zhang, Yao-Yi Wang, Zhi-Hong Yang, Zhong-Yi Qian, Xie Wang, Jia-Zhi Guo, Mei-Yan Zhang, Xin-Yu Liao, Qi Wan, Di Lu, Ying-Ying Zou
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Cognitive dysfunction is a very severe consequence of diabetes, but the underlying causes are still unclear. Recently, the cerebellum was reported to play an important role in learning and memory. Since long-term depression (LTD) is a primary cellula
Externí odkaz:
https://doaj.org/article/064af58cb0e0479a88c37acecaa577ff
Autor:
Zhi-Long Shi, Yi-Dan Liu, Yun-Yun Yuan, Da Song, Mei-Feng Qi, Xu-Juan Yang, Ping Wang, Xiao-Ying Li, Jian-Hua Shang, Zhao-Xiang Yang
Publikováno v:
Biochemistry Research International, Vol 2017 (2017)
Norathyriol is a metabolite of mangiferin. Mangiferin has been reported to inhibit α-glucosidase. To the best of our knowledge, no study has been conducted to determine or compare those two compounds on inhibiting α-glucosidase in vitro and in vivo
Externí odkaz:
https://doaj.org/article/71a0781c583c4f2cb7703318e415555e
Autor:
Ji-Nan Dai, Yi Zong, Lian-Mei Zhong, Yue-Min Li, Wei Zhang, Li-Gong Bian, Qing-Long Ai, Yi-Dan Liu, Jun Sun, Di Lu
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e21891 (2011)
Microglial activation plays an important role in neurodegenerative diseases by producing several proinflammatory enzymes and proinflammatory cytokines. The phenolic glucoside gastrodin, a main constituent of a Chinese herbal medicine, has been known
Externí odkaz:
https://doaj.org/article/95547c0c2f394626be00e2e0fa95172a
Publikováno v:
Stem Cells and Development. 32:213-224
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6cae801dc555f0c68035dd53025ad4a9
https://doi.org/10.1089/scd.2022.0234
https://doi.org/10.1089/scd.2022.0234
Publikováno v:
Petroleum Science. 20:776-786
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1315594c6144f248583af80c6780a10
https://doi.org/10.1016/j.petsci.2022.09.020
https://doi.org/10.1016/j.petsci.2022.09.020
Autor:
Yi‐Dan Liu, Shu‐Shu Huang, Mei Li, Monkol Lek, Dan‐Yu Song, Dan‐Dan Tan, Xiao‐Yu Chen, Hong Zhang, Jie‐Yu Liu, Xing‐Zhi Chang, Hui Xiong
Publikováno v:
Clinical Genetics. 101:448-453
Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family with eye and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42988484f3fc20cfcf28f9112f7b95a6
https://doi.org/10.1111/cge.14108
https://doi.org/10.1111/cge.14108