论文
| • Du, S., Zeng, S., Song, L., Ma, H., Chen, R., Luo, J., Wang, X., Ma, T., Xu, X., Sun, H., Yi, P., Guo, J., Huang, Y., Liu, M., Wang, T., Liao, W., Zhang, L.*, Liu, JY.*,Tang, B. * (2023) Functional characterization of novel NPRL3 mutations identified in three families with focal epilesy. Sci. China Life Sci. : In Press. |
| • Xu, X., Sun, H., Luo, J., Cheng, X., Lv, W., Luo, W., Chen, W., Xiong, Z., Liu, JY.* (2023) The Pathology of Primary Familial Brain Calcification: Implications for Treatment. Neurosci. Bull. 39(4): 659-674. |
| • Sun, H., Xu, X., Luo, J., Ma, T., Cui, J.,Liu, M., Xiong, B., Zhu, S.*, Liu, JY.* (2023) Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis. Neurosci. Bull. 39(1): 57-68. |
| • Chen, R., Du, S., Yao, Y., Zhang, L., Luo, J., Shen, Y., Xu, Z., Zeng, X., Zhang, L., Liu, M., Yin, C., Tang, B., Tan, J., Xu, X.*, Liu, JY.* (2022) A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics. Mov. Disord. 37: 598-607. |
| • Ma T, Li L, Chen R, Yang L, Sun H, Du S, Xu X, Cao Z, Zhang X, Zhang L, Shi X, Liu JY* (2022) PRMT7 modulates neuronal excitability by interacting with NaV1.9. Pain 163: 753-764. |
| • Sun H, Cao Z, Gao R, Li Y, Chen R, Du S, Ma T, Wang J, Xu X, Liu JY* (2021) Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl. Mol. Genet. Genomic Med. 9: e1670. |
| • Liu K, Luo J, Ma T, Fang M, Xu Z, Wang L, Zhang XY, Wen J, Liu C, Cao Y, Li X, Zhang L, Wang N, Gao A, Yi P,Liu JY* (2021) Germline mutation of PLCD1 contributes to human multiple pilomatricomas via PKD/ERK1/2 cascade and TRPV6. J. Invest Dematol 141: 533-544 |
| • Li, Y., Jiang, L., Wang, L., Wang, C., Liu, C., Guo, A., Liu, M., Zhang, L., Ma, C., Zhang, X., Gao, S., Liu, JY.* (2020) p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus. Front. Cell Dev. Biol. 8: 591781. |
| • Sun J, Li L, Yang L, Duan G, Ma T, Li N, Liu Y, Yao J, Liu JY*, Zhang X*. (2020) Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype. Mol. Pain 16: 1-9. |
| • Jiang L, Li Y, Yang K, Wang Y, Wang J, Cui X, Mao J, Gao Y, Yi P, Wang L*, Liu JY* (2020) FRMD7 mutations disrupt the Interaction with GABRA2 and may result in infantile nystagmus syndrome. Invest Opthalmol Vis Sci. 61(5): 41. |
| • Yang L, Li L, Tang H, Ma T, Li Y, Zhang X, Shi X, Liu JY* (2020) Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism. Pain 161 (7): 1470-1482. |
| • Zhou X, Ma T, Yang L, Peng S, Li L, Wang Z, Xiao Z, Zhang Q, Wang L, Huang Y, Chen M, Liang S, Zhang X, Liu JY* & Liu Z* (2020) Spider venom-derived peptide induces hyperalgesia in Nav1.7 knockout mice by activating Nav1.9 channels. Nat. Commun. 11: 2293 |
| • Xu X,Li X,Sun H,Cao Z,Gao R,Niu T,Wang Y,Ma T,Chen R,Wang C,Yang Z, Liu JY * (2020) Murine placental-fetal phosphate dyshomeostasis caused by an Xpr1 deficiency accelerates placental calcification and restricts fetal growth in late gestation. J Bone Miner Res. 35(1): 116-129 |
| • Du S, Yang Y, Yi P, Luo J, Liu T, Chen R, Liu CJ, Ma T, Li Y, Wang C, Weng J, Liu M, Zhang L, Yang B, Zeng X*, Liu JY* (2019) A Novel CDH1 mutation causing reduced E-cadherin dimerization is associated with Nonsyndromic Cleft Lip with or without Cleft Palate. Genetic Testing and Molecular Biomarkers. 23: 759-765 |
| • Ma H#, Feng S#, Deng X#, Wang L, Zeng S, Wang C, Ma X, Sun H, Chen R, Du S, Mao J, Zhang X, Ma C, Jiang H, Zhang L, Tang BS*, Liu JY* (2018) A PRRT2 variant in a Chinese family with PKD/BFIS results in loss of interaction with STX1B. Epilepsia. 59: 1621-1630 |
| • Ma X#, Li X#, Yi P# , Wang C, Weng J, Zhang L, Xu X, Su H, Feng S, Liu K, Chen R, Du S, Mao X, Zeng X, Zhang LY, Liu M, Tang BS, Zhu X, Jin S*, Liu JY* (2017) PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B Scientific Reports 7: 17850 |
| • Wang C, Ma X, Xu X, Huang B, Sun H, Li L, Zhang M, Liu JY* (2017) A PDGFB mutation causes paroxysmal non-kinesigenic dyskinesia with brain calcification. Movement Disorders. 32: 1104-1106 |
| • Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng L, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY* (2013) Gain-of-function mutations in SCN11A cause familial episodic pain Am J Hum Genet 93: 957-966 |
| • Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, Oliveira JRM, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang X, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J , Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY* (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature Genetics 44: 254-256 |
| • Feng A, Dai X, Wang X, Gao Y, Luo R, Li Y, Zhang N, Liu JY* (2011) Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly. J Huazhong Univ Sci Technol [Med Sci] 31: 570-577 |
| • Xu Z, Li Y, Zhang X, Zeng F, Yuan M, Liu M, Wang QK, Liu JY* (2011) Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta. Journal of Genetics and Genomics 38: 149-156 |
| • Gao Y, Yang K, Xu S, Wang C, Liu J, Zhang Z, Yuan M, Luo XP, Liu M, Wang QK, Liu JY* (2011) Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. Molecular Genetics and Metabolism 102: 107-109 |
| • Dai X, Gao Y, Xu Z, Cui X, Liu J, Li Y, Xu H, Liu M, Wang QK, Liu JY* (2010) Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. Am J Med Genet Part B 153B: 1305–1310 |
| • Wang Q, Diao Y, Xu Z, Li X, Luo XP, Xu H, Ouyang P, Liu M, Hu Z, Wang QK, Liu JY* (2009) Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism Molecular and Cellular Endocrinology 313: 50-56 |
| • Liu JZ, Yang T, Li X, Liu M, Wang QK, Liu JY* (2009) A novel mutation in the ATP2C1 gene is associated with HHD in a Chinese family. International Journal of Dermatology 48: 47-51 |
| • Dai XH, Chen WW, Wang X, Zhu QH, Li C, Li Li, Liu MG, Wang QK, Liu JY* (2008) A novel genetic locus for familial febrile seizures and epilepsy on chromosome. Hum Genet 124: 423–429 |
| • Liu P, Yang Q, Wang X, Feng A, Yang T, Yang R, Wang P, Yuang M, Liu M, Liu JY* (2008) Wang QK. Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome. J Invest Dermatol. 128: 1418-22 |
| • Liu JY, Dai X, Sheng J, Cui X, Wang X, Jiang X, Tu X, Tang Z, Bai Y, Liu M, Wang QK (2008) Identification and functional characterization of a novel splicing mutation in RP gene PRPF31. Biochem Biophys Res Commun. 7: 367(2):420-6 |
| • Ren X#, Liu JY#, Zhai LY, Yao Q, Dai X, Cai Z, Liu P, Sun K, Huang C, Wang QK, Liu M. (2008) A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. Brit J Dermatol. 158: 618-620 |
| • Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK. (2007) Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet. 52: 565-570 |
| • Liu JY, She CW, Hu ZL, Diao Y, Li F, Liu LH, Song YC (2007) Visualization and characterization of high-order chromatin fibers under light microscope during interphase and mitotic stages in plants. J Integr Plant Biol 49: 1634-1639 |
| • Zhang SR, Zhou XQ, Ren X, Wang TT, Yuan MX, Wang Q, Liu JY*, Liu MG. (2007) Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia. CHINESE MED J-PEKING. 120: 1017-9 |
| • Liu JY, Ji M, Wang X, Ren X, Liu M, Wang QK. (2006) Detection of human chromosomal abnormalities using a new technique combining DAPI staining and image analysis. Clinical Genetics 69: 65-71 |
| • Diao Y, Chen L, Yang G, Zhou M, Song Y, Hu Z, Liu JY* (2006) Nuclear DNA C-values in 12 Species in Nymphaeales. Caryologia ,59: 25-30 |
| • Liu JY, She CW, Hu ZL, Xiong ZY, Liu LH, Song YC (2004) A new chromosome fluorescence banding technique combining DAPI staining with image analysis in plants. Chromosoma 113: 16-21 |
| • Liu JY, Wang XR, Zeng XL, Zhang CS, Hao S, Song YC (2003) Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage. Cytogenet Genome Res. (1-2): 44056 |
| • Xiaohua Dai, Guangxu Yang, Yunchun Song, Jingyu Liu* (2006) The mouse chromosome karyotype combining fluorochromes staining with image analysis. J Wuhan Univ (English ed). 11: 441-446 |
| • Wang X, Wang XR, Liu MG, Wang Q, Liu JY* (2006) Genetic analysis of a family with 46, XY “Female” associated with infertility. Acta GeneticaSinica 33: 19-25 |
| • Chen Y,Fu F,Chen S,Cen Z,Tang H,Huang J,Xie F,Zheng X,Yang D1,Wang H,Huang X,Zhang Y,Zhou Y, Liu JY,Luo W. (2019) Evaluation of MYORG mutations as a novel cause of autosomal recessive primary familial brain calcification. Movement disord. 34: 291-297 |
| • Chen S,Cen Z,Fu F,Chen Y,Chen X,Yang D,Wang H,Wu H,Zheng X,Xie F,Ouyang Z,Tang W,Zhang S,Yin L,Zhang Y,Meng P,Zhu X,Zhang H,Jiang F,Zhang K,He J,Zhang D,Ming H,Song D,Zhou Z,Luo Y,Gu Q,Su Y,Wu X,Tang H,Wu C,Chen W, Liu JY,Luo W (2019) Chinese PFBC Study Group. Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China. Parkinsonism and Related Disorders 64: 211-219 |
| • Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS (2018) Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. J Med Genet doi: 10.1136 |
| • Guo JF, Zhang L, Li K, Mei JP, Xue J, Chen J, Tang X, Shen L, Jiang H, Chen C, Guo H, Wu XL, Sun SL, Xu Q, Sun QY, Chan P, Shang HF, Wang T, Zhao GH, Liu JY, Xie XF, Jiang YQ, Liu ZH, Zhao YW, Zhu ZB, Li JD, Hu ZM, Yan XX, Fang XD, Wang GH, Zhang FY, Xia K, Liu CY, Zhu XW, Yue ZY, Li SC, Cai HB, Zhang ZH, Duan RH, Tang BS. (2018) Coding mutations in NUS1 contribute to Parkinson's disease. Proc Natl Acad Sci U S A. doi: 10.1073 |
| • Hu X, Lu Z, Yu S, Reilly J, Liu F, Jia D, Qin Y, Han S, Liu X, Qu Z, Lv Y, Li J, Huang Y, Jiang T, Jia H, Wang Q, Liu JY, Shu X, Tang Z, Liu M. (2018) CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1. Autophagy 25: 43843 |
| • Xiao Meng Yin, Jing Han Lin, Li Cao, Tong Mei Zhang, Sheng Zeng, Kai Lin Zhang, Wo Tu Tian, Zheng Mao Hu, Nan Li, Jun Ling Wang, Ji Feng Guo, Ruo Xi Wang, Kun Xia, Zhu Hua Zhang, Fei Yin, Jing Peng, Wei Ping Liao, Yong Hong Yi, JingYu Liu, Zhi Xian Yang, Zhong Chen, Xiao Mao, Xin Xiang Yan, Hong Jiang, Lu Shen, Sheng Di Chen, Li Ming Zhang*, Bei Sha Tang* (2018) Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Hum Mol Genet 27: 625-637 |
| • Pengxia Wang, Weixi Qin, Pengyun Wang, Yufeng Huang, Ying Liu, Rongfeng Zhang, Sisi Li, Qin Yang, Xiaojing Wang, Feifei Chen, Jingqiu Liu, Bo Yang, Xiang Cheng, Yuhua Liao, Yanxia Wu,Tie Ke, Xin Tu, Xiang Ren, Yanzong Yang, Yunlong Xia, Xiaoping Luo, Mugen Liu, He Li, JingYu Liu, Yi Xiao, Qiuyun Chen, Chengqi Xu&Qing K. Wang (2018) Genomic Variants in NEURL, GJA1 and CUX2 Significantly Increase Genetic Susceptibility to Atrial Fibrillation. Scientific Reports 8: 3297 |
| • Jiaoli Sun, Guangyou Duan, Ningbo Li, Shanna Guo, Yuhao Zhang, Ying Ying, Mi Zhang, Qingli Wang, Jing Yu Liu, Xianwei Zhang, SCN11 (2017) A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients. Medicine 96: e8149 |
| • Liu F, Qin Y, Yu S, Soares DC, Yang L, Wng J, Li C, Gao M, Lu Z, Hu X, Liu X, Jiang T, Liu JY, Shu X, Tang Z, Liu M. (2017) Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. The Journal of Biological Chenmistry 292: 6225-6239 |
| • Yu S, Li C, Biswas L, Hu X, Liu F, Reilly J, Liu X, Liu Y, Huang Y, Lu Z, Han S, Wang L, Liu JY, Jiang T, Shu X, Wong F, Tang Z, Liu M (2017) CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish. Hum Mol Genet 26: 2335–2345 |
| • Wang QL, Guo S, Duan G, Ying Y, Huang P, Liu JY, Zhang X (2016) Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. Pediatr Neurol. 61: 63-69 |
| • Chen Z, Zheng C, long Z, Cao L, li X, Shang H, Yin X, Zhang B, Liu JY,Ding D, Peng Y, Wang C, Peng H, Ye W, Qin R, Pan Q, Xia K, Chen S, Sequeiros J, Ashizawa T, Klochgether T, Tang BS, Jiang H. (2016) (CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. Brain. 139: 43835 |
| • Fei Liu, Yinghao Huang, Luying Liu,Bo Liang, Zhen Qu, Gang Huang, Chang Li, Ronghua Tian, Zhuhui Jiang, Fucan Liu, Xiaoyan Yu, Yingjie Huang, Jing Yu Liu, Zhaohui Tang (2014) Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. Clin Chim Acta 429: 129-133 |
| • Qiu Fen Wang, Fei Liu, Yue Xing, Xianjin Wei, Hui Li, Shirong Zhang, Jing Yu Liu, Qing Wang, Zhaohui Tang, Mugen Liu (2013) Mutation c.359_363delGTATTinsATAC in the COL4A5 causes alport syndrome in a Chinese family. Gene 512: 482-485 |
| • Jun-Ling Wang, Xiao Mao, Zheng-Mao Hu, Jia-Da Li, Nan Li, Ji-Feng Guo, Hong Jiang, Lu Shen, Jin Li, Yu-Ting Shi, Kun Xia, Jing Yu Liu, Wei-Ping Liao (2013) Bei-Sha Tang. Mutation analysis of PRRT2 in two Chinese BFIS families andnomenclature of PRRT2 related paroxysmal diseases. Neurosci Lett 552: 40-45 |
| • Ying Liu, Xiaoyan Yu, Lei Wang, Chang Li, Stephen Archacki, Changzheng Huang, Jing Yu Liu, Qing Wang, Mugen Liu, Zhaohui Tang (*) (2012) Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family Gene 491: 246-50 |
| • Xiukun Cui, Feng Zeng, Ying Liu, Jing Zhang, Stephen Archacki, Tailan Zhan, Rong Du, Zhaohui Tang, Jingyu Liu, Qing K. Wang, Mugen Liu (2011) A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family. Neurosci Lett 503: 27-30 |
| • Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, Liu JY , Jiang F, Wang Q, Liu M. (2010) Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. Molecular Vision 16: 454-461 |
| • Ren X, Xu C, Zhan C, Yang Q, Shi L, Wang F, Wang C, Xia Y, Yang B, Wu G, Wang P, li X, Wang D, Xiong X, Liu J, Liu M, Liu JY , Tu X, Wang QK. (2010) Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population. Clinica Chimica Acta 411: 481-485 |
| • Shi L, Li C, Wang C, Xia Y, Wu G, Wang F, Xu C, Wang P, Li X, Wang D, Xiong X, Bai Y, Liu M, Liu JY , Ren X, Gao L, Wang B, Zeng Q, Yang B, Ma X, Yang Y, Tu X, Wang QK. (2009) Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population. Hum Genet 126: 843–849 |
| • Liu P, Zhang S, Yao Q, Liu X, Wang X, Huang C, Huang X, Wang P, Yuan M, Liu JY, Wang QK, Liu M. (2008) Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. Hum Genet. 123: 507-13 |
| • Liu P, Li H, Ren X, Mao H, Zhu Q, Zhu Z, Yang R, Yuan W, Liu JY, Wang Q, Liu M. (2008) Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. J Genet Genomics. 35: 553-8 |
| • Zhang S, Yin K, Ren X, Wang P, Zhang S, Cheng L, Yang J, Liu JY, Liu M, Wang QK. (2008) Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. BMC Med Genet. 9: 24 |
| • Li H, Li C, Lu Q, Su T, Ke T, Li DW, Yuan M, Liu JY , Ren X, Zhang Z, Zeng S, Wang QK, Liu M. (2008) Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells. Biochim Biophys Acta. 1782: 303-9 |
| • Zhang X#, Chen L#, Liu JY , Zhao Z, Qu E, Wang X, Chang W, Xu C, Wang QK, Liu M. (2007) A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a chinese family. BMC Med Genet. 8: 52 |
| • Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu JY , Wang QK, Liu M. (2007) A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. Mol Vis 13: 1548-54 |
| • Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Liu Q, Yang J, Liu JY, Wang QK (2006) Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Invest Ophth Vis Sci. 47: 3461-3466 |
| • Wang X, Yang Q, Tang H, Zhu Q, Chang W, Liu JY, Wang QK Liu M. (2006) GDF5 Heterozygous Mutation Causes Autosomal Dominant Symphalangism-like Disorder in Two Chinese Families. Am J Med Genet PartA 140A: 1846–1853 |
| • Liu M, Wang X, Cai Z, Tang Z, Liang B, Cao K, Liu JY, Wang QK. (2006) Novel IHH Heterozygous Mutation Causes Brachydactyly Type A1 in a Big Chinese Family. J Hum Genet 51: 727-731 |
| • Huang C, Yang Q, Ke T, Wang H, Wang X, Shen J, Tu X, Tian J, Liu JY, Wang QK, Liu M. (2006) A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. J Hum Genet 51: 1133–1137 |
