Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

Yu, Jiaxi; Shan, Jingli; Yu, Meng; Di, Li; Xie, Zhiying; Zhang, Wei; Lv, He; Meng, Lingchao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Guo, Xueyu; Wang, Yang; Xi, Jianying; Zhu, Wenhua; Da, Yuwei; Hong, Daojun; Yuan, Yun; Yan, Chuanzhu; Wang, Zhaoxia; Deng, Jianwen.

Am J Hum Genet ; 109(3): 533-541, 2022 03 03.

Artículo en Inglés | MEDLINE | ID: mdl-35148830

2.

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.

Gu, Xinyu; Yu, Jiaxi; Jiao, Kexin; Deng, Jianwen; Xia, Xingyu; Qiao, Kai; Yue, Dongyue; Gao, Mingshi; Zhao, Chongbo; Dong, Jihong; Huang, Gongchun; Shan, Jingli; Yan, Chuanzhu; Di, Li; Da, Yuwei; Zhu, Wenhua; Xi, Jianying; Wang, Zhaoxia.

J Med Genet ; 61(4): 340-346, 2024 Mar 21.

Artículo en Inglés | MEDLINE | ID: mdl-37923380

3.

Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.

Wan, Yalan; Zhou, Chao; Chang, Xingzhi; Wu, Liwen; Zheng, Yilei; Yu, Jiaxi; Bai, Li; Luan, Mingyue; Yu, Meng; Wang, Qi; Zhang, Wei; Yuan, Yun; Deng, Jianwen; Wang, Zhaoxia.

J Med Genet ; 2024 Feb 27.

Artículo en Inglés | MEDLINE | ID: mdl-38413182

4.

CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.

Yu, Jiaxi; Liufu, Tongling; Zheng, Yilei; Xu, Jin; Meng, Lingchao; Zhang, Wei; Yuan, Yun; Hong, Daojun; Charlet-Berguerand, Nicolas; Wang, Zhaoxia; Deng, Jianwen.

Proc Natl Acad Sci U S A ; 119(41): e2208649119, 2022 10 11.

Artículo en Inglés | MEDLINE | ID: mdl-36191230

5.

Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress.

Wang, Hui; Zheng, Yilei; Yu, Jiaxi; Meng, Lingchao; Zhang, Wei; Hong, Daojun; Wang, Zhaoxia; Yuan, Yun; Deng, Jianwen.

Neurobiol Dis ; 190: 106391, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-38145851

6.

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.

Deng, Jianwen; Yu, Jiaxi; Li, Pidong; Luan, Xinghua; Cao, Li; Zhao, Juan; Yu, Meng; Zhang, Wei; Lv, He; Xie, Zhiying; Meng, LingChao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Wang, Qingqing; Liu, Jing; Zhu, Min; Guo, Xueyu; Su, Yanan; Liang, Yu; Liang, Fan; Hayashi, Tomohiro; Maeda, Meiko Hashimoto; Sato, Tatsuro; Ura, Shigehisa; Oya, Yasushi; Ogasawara, Masashi; Iida, Aritoshi; Nishino, Ichizo; Zhou, Chang; Yan, Chuanzhu; Yuan, Yun; Hong, Daojun; Wang, Zhaoxia.

Am J Hum Genet ; 106(6): 793-804, 2020 06 04.

Artículo en Inglés | MEDLINE | ID: mdl-32413282

7.

Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.

Hong, Daojun; Wang, Hui; Zhu, Min; Peng, Yun; Huang, Pengcheng; Zheng, Yilei; Yu, Meng; Meng, Lingchao; Li, Fan; Yu, Jiaxi; Zhou, Meihong; Deng, Jianwen; Wang, Zhaoxia; Yuan, Yun.

Eur J Neurol ; 30(2): 527-537, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36263606

8.

Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease.

Deng, Jianwen; Zhou, Binbin; Yu, Jiaxi; Han, Xiaochen; Fu, Jianhui; Li, Xiaobin; Xie, Xufang; Zhu, Min; Zheng, Yilei; Guo, Xueyu; Li, Pidong; Wang, Qingqing; Liu, Jing; Zhang, Wei; Yuan, Yun; Yao, Sheng; Wang, Zhaoxia; Hong, Daojun.

J Med Genet ; 59(5): 462-469, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-33766934

9.

Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.

Xie, Zhiying; Lu, Yunlong; Liu, Chang; Sun, Chengyue; Yu, Jiaxi; Ling, Chen; Luan, Xinghua; Wang, Wei; Wang, Li; Liang, Yanhong; Luo, Qianbo; Meng, Lingchao; Wang, Zhaoxia; Yuan, Yun.

J Clin Lab Anal ; 37(21-22): e24987, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37968799

10.

Oculopharyngodistal myopathy.

Yu, Jiaxi; Deng, Jianwen; Wang, Zhaoxia.

Curr Opin Neurol ; 35(5): 637-644, 2022 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-35942670

11.

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.

Yu, Jiaxi; Deng, Jianwen; Guo, Xueyu; Shan, Jingli; Luan, Xinghua; Cao, Li; Zhao, Juan; Yu, Meng; Zhang, Wei; Lv, He; Xie, Zhiying; Meng, LingChao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Wang, Qingqing; Liu, Jing; Zhu, Min; Zhou, Binbin; Li, Pidong; Liu, Yinzhe; Wang, Yang; Yan, Chuanzhu; Hong, Daojun; Yuan, Yun; Wang, Zhaoxia.

Brain ; 144(6): 1819-1832, 2021 07 28.

Artículo en Inglés | MEDLINE | ID: mdl-33693509

12.

Response to Eura et al.

Yu, Jiaxi; Shan, Jingli; Yu, Meng; Di, Li; Xie, Zhiying; Zhang, Wei; Lv, He; Meng, LingChao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Guo, Xueyu; Wang, Yang; Xi, Jianying; Zhu, Wenhua; Da, Yuwei; Hong, Daojun; Yuan, Yun; Yan, Chuanzhu; Wang, Zhaoxia; Deng, Jianwen.

Am J Hum Genet ; 109(11): 2090-2091, 2022 11 03.

Artículo en Inglés | MEDLINE | ID: mdl-36332613

13.

Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.

Deng, Jianwen; Gu, Muliang; Miao, Yu; Yao, Sheng; Zhu, Min; Fang, Pu; Yu, Xuefan; Li, Pidong; Su, Yanan; Huang, Jian; Zhang, Jun; Yu, Jiaxi; Li, Fan; Bai, Jing; Sun, Wei; Huang, Yining; Yuan, Yun; Hong, Daojun; Wang, Zhaoxia.

J Med Genet ; 56(11): 758-764, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31413119

14.

Efficacy, immunogenicity and safety of the HPV-16/18 AS04-adjuvanted vaccine in healthy Chinese women aged 18-25 years: results from a randomized controlled trial.

Zhu, Feng-Cai; Chen, Wen; Hu, Yue-Mei; Hong, Ying; Li, Juan; Zhang, Xun; Zhang, Yi-Ju; Pan, Qin-Jing; Zhao, Fang-Hui; Yu, Jia-Xi; Zhang, Yan-Shu; Yang, Xiaoping; Zhang, Cheng-Fu; Tang, Haiwen; Zhang, Helen; Lebacq, Marie; David, Marie-Pierre; Datta, Sanjoy K; Struyf, Frank; Bi, Dan; Descamps, Dominique.

Int J Cancer ; 135(11): 2612-22, 2014 Dec 01.

Artículo en Inglés | MEDLINE | ID: mdl-24740596

15.

Interaction of depressive and anxiety symptoms on the mortality of patients with COPD: a preliminary study.

Lou, Peian; Zhu, Yanan; Chen, Peipei; Zhang, Pan; Yu, Jiaxi; Wang, Yong; Chen, Na; Zhang, Lei; Wu, Hongmin; Zhao, Jing.

COPD ; 11(4): 444-50, 2014 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25010754

16.

Spike 1 trimer, a nanoparticle vaccine against porcine epidemic diarrhea virus induces protective immunity challenge in piglets.

Li, Linjie; Yin, Shuanghui; Zhou, Jingjing; Zhang, Liping; Teng, Zhidong; Qiao, Lu; Wang, Yunhang; Yu, Jiaxi; Zang, Haoyue; Ding, Yaozhong; Liu, Xinsheng; Sun, Shiqi; Guo, Huichen.

Front Microbiol ; 15: 1386136, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38650887

17.

Impact of risk factors, activities and psychological disorders on the health of patients with chronic obstructive pulmonary disease in China: a cross-sectional study.

Zhang, Lei; Lou, Peian; Zhu, Yanan; Chen, Peipei; Zhang, Pan; Yu, Jiaxi; Zhang, Ning; Chen, Na; Wu, Hongmin; Zhao, Jing.

BMC Public Health ; 13: 627, 2013 Jul 02.

Artículo en Inglés | MEDLINE | ID: mdl-23819735

18.

Supporting smoking cessation in chronic obstructive pulmonary disease with behavioral intervention: a randomized controlled trial.

Lou, Peian; Zhu, Yanan; Chen, Peipei; Zhang, Pan; Yu, Jiaxi; Zhang, Ning; Chen, Na; Zhang, Lei; Wu, Hongmin; Zhao, Jing.

BMC Fam Pract ; 14: 91, 2013 Jun 27.

Artículo en Inglés | MEDLINE | ID: mdl-23802809

19.

Complex I deficiency in m.3243A>G fibroblasts is alleviated by reducing NADH accumulation.

Liufu, Tongling; Yu, Haiyan; Yu, Jiaxi; Yu, Meng; Tian, Yue; Ou, Yichun; Deng, Jianwen; Xing, Guogang; Wang, Zhaoxia.

Front Physiol ; 14: 1164287, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37650111

20.

Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.

Xie, Zhiying; Sun, Chengyue; Liu, Chang; Xie, Zhihao; Wei, Luhua; Yu, Jiaxi; Ling, Chen; Guo, Xuejun; Liu, Yilin; Yu, Meng; Leng, Yinglin; Meng, Lingchao; Sun, Yunchuang; Deng, Jianwen; Leal, Suzanne M; Schrauwen, Isabelle; Wang, Zhaoxia; Yuan, Yun.

J Neurol ; 270(2): 925-937, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-36319768

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