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作品数：81被引量：107H指数：5
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Preclinical ex vivo IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease
《Genes & Diseases》2025年第3期397-410,共14页Mingfeng Hu Qiling Xu Fang Zhang Karen F.Buckland Yelei Gao Weixia Du Yuan Ding Lina Zhou Xiulian Sun Lijia Ma Zhiyong Zhang Xuemei Tang Xiaodong Zhao Adrian J.Thrasher Yunfei An 
supported by the National Natural Science Foundation of China(No.82070135);the National Key R&D Program of China(No.2021YFC2700804);the CQMU Program for Youth Innovation in Future Medicine(China)(No.W0100).
X-linked severe combined immunodeficiency disease(X-SCID)is a rare inheriteddisease caused by mutations in the interleukin 2 receptor subunit gamma gene(IL2RG),whichencodes the common g chain protein,a subunit of the ...
关键词：Atypicaldiverse phenotype Gene therapy IL2RG Self-inactivating lentiviral vector X-linked severe combined immunodeficiency disease 
Angle closure glaucoma in a patient with X-linked retinoschisis:a case report
《International Journal of Ophthalmology(English edition)》2025年第3期557-561,共5页Lu Yao Ye Lu Kang-Yi Yang Kun Lyu Zong-Yi Wang Lyu-Zhen Huang Hui-Juan Wu 
Supported by Capital’s Funds for Health Improvement and Research(No.2024-2-4087);Central Guidance for Local Scientific and Technological Development Funding Projects(No.2022ZY0026).
Dear Editor,X-linked retinoschisis(XLRS)is a rare X-linked recessive disorder predominantly afflicting young males.The schisis of the retinal layers is a result of deleterious mutations in the RS1 gene.Insufficient ep...
关键词：DELETE CLOSURE ANGLE 
Caffeic acid-vanadium nanozymes treat skin flap ischemia-reperfusion injury through macrophage reprogramming and the upregulation of X-linked inhibitors of apoptotic proteins
《Acta Pharmaceutica Sinica B》2025年第1期592-610,共19页Xinyu Zhao Jie Shan Hanying Qian Xu Jin Yiwei Sun Jianghao Xing Qingrong Li Xu-Lin Chen Xianwen Wang 
supported by the National Natural Science Foundation of China(Grant Nos.82172204,82372552 and 82372517);the Anhui Key Research and Development Plan(Grant No.202104j07020027,China);the Excellent Youth of Natural Science Research Projects in Anhui Province Universities(2023AH030060);the Basic and Clinical Cooperative Research and Promotion Program of Anhui Medical University(No.2021xkjT028,China);the Research Fund of Anhui Institute of Translational Medicine(2022zhyx-C01,China);the Scientific Research Programme for Higher Education Institutions in Anhui Province(2023AH040371,China).
Ischemia-reperfusion(I/R)injury following skin flap transplantation is a critical factor leading to flap necrosis and transplant failure.Antagonizing inflammatory responses and oxidative stress are regarded as crucial...
关键词：Caffeic acid-vanadium Nanozymes Skin flap ISCHEMIA-REPERFUSION Oxidative stress Inflammation CHEMOKINES Apoptosis 
ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy被引量：1
《World Journal of Pediatrics》2024年第8期859-867,共9页Yuan-Yuan Hu Wang Song Zhi-Gang Liu Xing-Guang Ye Hong-Wei Zhang Xin Li Jun-Xia Luo Peng-Yu Wang Jie Wang Xiao-Fei Lin Hong-Li Zhu Wei-Ping Liao Bin Li Xu-Qin Chen 
funded by the National Natural Science Foundation of China(Grant No.82301639 to Bin Li,Grant No.82171441 to Xu-Qin Chen,and Grant No.82201609 to Jie Wang).
The ARHGAP4 gene(OMIM*300,023),also known as Rho GTPase activating protein 4,encodes a protein that has an essential role in the regulation of small GTP-binding.ARHGAP4 message RNA(mRNA)is highly expressed during the ...
关键词：EPILEPSY alterations STRATUM 
Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies
《Biomedical and Environmental Sciences》2024年第5期503-510,共8页LI Min ZHANG Yu Lan ZHANG Kai Li LI Ping Ping LYU Yu Han LIANG Ya Xin YU Yue 
National High Level Hospital Clinical Research Funding(BJ-2018-204,BJ-2023-112)。
Objective VATER/VACTERL-like association is associated with adverse pregnancy outcomes.Genetic evidence of this disorder is sporadic.In this study,we aimed to provide genetic insights to improve the diagnosis of VACTE...
关键词：Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-LINKED 
Notoginsenoside Ft1 inhibits colorectal cancer growth by increasing CD8^(+)T cell proportion in tumor-bearing mice through the USP9X signaling pathway
《Chinese Journal of Natural Medicines》2024年第4期329-340,共12页FENG Yutao LI Yuan MA Fen WU Enjiang CHENG Zewei ZHOU Shiling WANG Zhengtao YANG Li SUN Xun ZHANG Jiwei 
supported by Shanghai Pujiang Program(No.20PJ1413000);the National Natural Science Foundation of China(No.82173106,82130115,81290108033,82004004,and 82074011)。
The management of colorectal cancer(CRC)poses a significant challenge,necessitating the development of innovative and effective therapeutics.Our research has shown that notoginsenoside Ft1(Ng-Ft1),a small molecule,mar...
关键词：Notoginsenoside Ft1 Colorectal cancer CD8^(+)T cell Ubiquitin-specific peptidase 9 X-linked β-Catenin Wnt 
Evaluating FFA and UWF SS-OCTA abnormalities in X-linked retinoschisis:a cross-sectional study of 46 eyes
《Eye Science》2024年第4期381-392,共12页Linyan Zhang Xiongze Zhang Miner Yuan Limei Sun Xianghua Wu Shuya Ke Xiaoyan Ding 
supported by the Construction Project of High-Level Hospitals in Guangdong Province(303020107,303010303058);the National Natural Science Foundation of China(82271092,82401282);Guangdong Basic and Applied Research Foundation(2023A1515010430);Guangzhou Municipal Science and Technology Key Project(2024A03J0171).
Aims:This study describes vascular abnormalities in X-linked retinoschisis(XLRS)using fundus fluorescein angiography(FFA)and ultra-widefield swept-source optical coherence tomography angiography(UWF SS-OCTA)to better ...
关键词：X-linked retinoschisis retinal vascular changes FFA ultrawide field swept source OCT peripheral schisis 
Erratum to “Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia” [Case Reports in Clinical Medicine Volume 11 (2022) 422-434]
《Case Reports in Clinical Medicine》2024年第3期85-86,共2页Kunka Kamenarova Sylvia Cherninkova Kalina Mihova Rosen Georgiev Yana Nikolaeva Radka Kaneva 
The original online version of this article (Kamenarova, K., Cherninkova, S., Mihova, K., Georgiev, R., Nikolaeva, Y. and Kaneva, R. (2022) Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod ...
关键词：Erratum 
Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism
《Chinese Medical Journal》2023年第21期2635-2637,共3页Lijuan Zhong Yin Li Xiaohong He Subrata Kumar Dey Quanfu Zhang Santasree Banerjee 
supported by a grant from the Shenzhen Key Medical Discipline Construction Fund(No.SZXK028).
To the Editor:Alport syndrome(AS)is a rare hereditary progressive nephropathy manifested with hematuria,proteinuria,gradual renal failure leading to end-stage renal disease(ESRD),sensorineural hearing loss,and ocular ...
关键词：ELEVATED Alport ASTIGMATISM 
A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay
《International Journal of Ophthalmology(English edition)》2023年第10期1595-1600,共6页Hui-Qin Wang Pei-Kuan Cong Tian He Xiao-Feng Yu Ya-Nan Huo 
Supported by National Natural Science Foundation of China(No.31751003);Natural Science Foundation of Zhejiang Province(No.LY20H120009);Health Commission of Zhejiang Province(No.2022KY168);Beijing Bethune Charitable Foundation(No.BJ-GY2021013J).
AIM:To report a novel splicing mutation in the RPGR gene(encoding retinitis pigmentosa GTPase regulator)in a three-generation Chinese family with X-linked retinitis pigmentosa(XLRP).METHODS:Comprehensive ophthalmic ex...
关键词：retinitis pigmentosa X-linked inheritance RPGR splicing mutation pSPL3 minigene assay 
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