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Frontiers in Genetics|March 21, 2020
A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin ResistanceYi Tang, Liyang Zhang, Wenlin Xie, et al.
Frontiers in Genetics|June 13, 2020
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese FamilyJie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, et al.
International Journal of Clinical and Experimental Pathology|January 23, 2020
A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type IJie-Yuan Jin, Pan-Feng Wu, Liang-Liang Fan, et al.
Molecular Medicine Reports|April 26, 2017
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner SyndromePan-Feng Wu, Jie-Yuan Jin, Jing-Jing Li, et al.
Circulation|May 3, 2018
Increased Reticulon 3 (RTN3) Leads to Obesity and Hypertriglyceridemia by Interacting With Heat Shock Protein Family A (Hsp70) Member 5 (HSPA5)Rong Xiang, Liang-Liang Fan, Hao Huang, et al.
Pharmacogenomics and Personalized Medicine|February 10, 2025
A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis PigmentosaLiang Chen, Mei-Fang Zhao, Hui-Wen Deng, et al.
Medcomm|February 14, 2024
Reticulon 3 regulates sphingosine-1-phosphate synthesis in endothelial cells to control blood pressureJie-Yuan Jin, Si-Hua Chang, Ya-Qin Chen, et al.
Springerplus|December 29, 2016
Mutation detection in Chinese patients with familial hypercholesterolemiaRan Du, Liang-Liang Fan, Min-Jie Lin, et al.
Molecular Medicine (Cambridge, Mass.)|February 19, 2025
RTN3 regulates collagen biosynthesis and profibrotic macrophage differentiation to promote pulmonary fibrosis via interacting with CRTH2Chen-Yu Wang, Ya-Qin Chen, Hao Huang, et al.
Molecular Biomedicine|June 27, 2024
Single-cell transcriptomic profiling reveals decreased ER protein Reticulon3 drives the progression of renal fibrosisShuai Guo, Yi Dong, Ran Du, et al.
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