Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Xin-fu Lin"'
Autor:
Xiu-juan Yao, Qian Chen, Hong-ping Yu, Dan-dan Ruan, Shi-jie Li, Min Wu, Li-sheng Liao, Xin-fu Lin, Zhu-ting Fang, Jie-wei Luo, Bao-song Xie
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease characterized by recurrent respiratory infections. In clinical manifestations, DNAH5 (NM_001361.3) is one of the recessive pathogenic genes. Primary fam
Externí odkaz:
https://doaj.org/article/15b90ce4c538442da7531ae5b746bca1
Autor:
Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Hypomyelinating leukodystrophy (HLD) is a rare genetic heterogeneous disease that can affect myelin development in the central nervous system. This study aims to analyze the clinical phenotype and genetic function of a family with HLD-7 caus
Externí odkaz:
https://doaj.org/article/e508b027dcff4bf3927d0ac5b85b9d81
Autor:
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Hong Li, Fan Lin, Jie-wei Luo, Xin-fu Lin
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionWe previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family. This study aims to investigate the function of ATP
Externí odkaz:
https://doaj.org/article/b8b9f5986ee64684bea9685de8309e9d
Autor:
Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/cfa5ed502da84924a40ad4486cfae92e
Autor:
Shi-jie Li, Dan-dan Ruan, Wei-zhen Wu, Min Wu, Qiu-yan Wu, Han-lu Wang, Yuan-yuan Ji, Yan-ping Zhang, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Jie-wei Luo, Mei-zhu Gao, Jia-bin Wu
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-12 (2023)
Abstract Objectives Systemic lupus erythematosus is an autoimmune disease that involves multiple organ systems. One of its major complications, lupus nephritis (LN), is associated with a high mortality rate, and children-onset LN have a more severe c
Externí odkaz:
https://doaj.org/article/573401da1a404896a541cf1703b99e11
Autor:
Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo
Publikováno v:
Cell Death and Disease, Vol 13, Iss 6, Pp 1-9 (2022)
Abstract X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in ricke
Externí odkaz:
https://doaj.org/article/0ae6637eaaa247b48cc806435f97fd1b
Autor:
Yan-ping Zhang, Bin Lin, Yuan-yuan Ji, Ya-nan Hu, Xin-fu Lin, Yi Tang, Jian-hui Zhang, Shao-jie Wu, Sen-lin Cai, Yan-feng Zhou, Ting Chen, Zhu-ting Fang, Jie-wei Luo
Publikováno v:
Thrombosis Journal, Vol 19, Iss 1, Pp 1-11 (2021)
Abstract Background Protein S deficiency (PSD) is an autosomal dominant hereditary disease. In 1984, familial PSD was reported to be prone to recurrent thrombosis. Follow-up studies have shown that heterozygous protein S (PROS1) mutations increase th
Externí odkaz:
https://doaj.org/article/e43aa8efc6064882ada55ad2c1ad2693
Autor:
Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Fa-qiang Tang, Wu-bing He, Jie-wei Luo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundBruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is FKBPl0, whereas that of type II BS is PLOD2. No
Externí odkaz:
https://doaj.org/article/b8701ac6f4e6479abef5b44b8644a00e
Autor:
Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Xin-fu Lin
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) or member 8 (ABCG8) genes. This leads to abnormal functions of the tran
Externí odkaz:
https://doaj.org/article/c93845073a274af981b71f19329d0736
Autor:
Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen
Publikováno v:
Cardiology Research and Practice, Vol 2022 (2022)
Background. Brugada syndrome is a hereditary cardiac disease associated with mutations in ion channel genes. The clinical features include ventricular fibrillation, syncope, and sudden cardiac death. A family with Brugada syndrome with sudden cardiac
Externí odkaz:
https://doaj.org/article/98098a3cd4b24a7484d6b4d863c89fdf