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Frontiers in Medicine|March 15, 2024
Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataractsZhao-Jing Lin, Jie-Yi Long, Juan Li, et al.
Molecular Cytogenetics|February 8, 2018
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformityShuai Guo, Xue-Feng Fan, Jie-Yuan Jin, et al.
Frontiers in Cell and Developmental Biology|January 28, 2022
GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic AnalysisJie-Yuan Jin, Pan-Feng Wu, Fang-Mei Luo, et al.
International Journal of Biological Sciences|September 17, 2025
Lipin3 deficiency aggravates cisplatin induced acute kidney injury via activating Sirt1-p21-Caspase 3-GSDME pyroptosis pathwayYu-Xing Liu, Hao Huang, Fang Wang, et al.
International Journal of Clinical and Experimental Pathology|January 15, 2020
Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese familiesFang Yu, Jie-Yuan Jin, Ji-Qiang He, et al.
Mitochondrion|February 9, 2024
RTN3 deficiency exacerbates cisplatin-induced acute kidney injury through the disruption of mitochondrial stabilityRan Du, Ji-Shi Liu, Hao Huang, et al.
DNA and Cell Biology|April 6, 2026
Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese FamilySi-Yuan Zhang, Hao Huang, Zi-Jie Yu, et al.
Electrophoresis|December 3, 2024
A Low-Cost Microfluidic Device For the On-Line Counting of Microparticle/BacteriaZhen-Yu Xun, Lv Liu, Bai-Chuan Zhang, et al.
DNA and Cell Biology|May 3, 2024
A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus SyndromeMei-Fang Zhao, Song-Lin Zhang, YangZiYu Xiang, et al.
Experimental & Molecular Medicine|May 20, 2022
Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cellsLiang-Liang Fan, Ran Du, Ji-Shi Liu, et al.
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