研究项目：

甘肃省自然科学基金，L1CAM基因突变导致1 型痉挛性截瘫的分子机制，202305-202606，主持

甘肃省自然科学基金，遗传痉挛性截瘫与唇腭裂混合家系致病基因的鉴定，202011- 202210，主持

兰州大学中央高校基本科研费自由探索项目，NOTCH1 基因功能性调控元件遗传变异导致先天性心脏病发生的机制研究，201801-201901，主持

兰州大学中央高校基本科研费自由探索项，JAG1基因与西北地区先天性心脏病的相关性研究， 201007-201206，主持

横向项目，人干细胞诱导心肌细胞， 202306-202406，主持

横向项目，人诱导多能干细胞提取液及外泌体冻干粉， 202206-202406，主持

横向项目，近视眼遗传机制， 201805-201906，主持

研究论文：

[1]  Mao, B.*, Zhang, S. S.*, Zhao, L. T., Huang, H. R., Ma, F. D., Shi, W. J., Li, S., Nie, Z. Y., Xiao, H. D., Xie, X. D.#, Li, P. Q#. The role of SLC26A8 homozygous variants in male infertility and flagellum abnormalities. Asian Journal of Andrology, 2024, 26(5): 544-546. DOI:10.4103/aja202421.

[2]  Feng, H.*, Wei, B., Xie, X., Li, P., Shen, X#. The potential up-regulation risk of 3’ UTR SNP (rs10787760 G > A) for the VAX1 gene is associated with NSCLP in the northwest Chinese population. Gene, 2024, 922: 148458. DOI:10.1016/j.gene.2024.148458.

[3]  Li, S.*, Li, J., Shi, W., Nie, Z., Zhang, S., Ma, F., Hu, J., Chen, J., Li, P.#, Xie, X.# Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development. Biomolecules, 2023, 13(6): 988. DOI:10.3390/biom13060988.

[4]  Ma, F.*, Li, P.*#, Zhang, S., Shi, W., Wang, J., Ma, Q., Zhao, M., Nie, Z., Xiao, H., Chen, X., Xie, X. #Decreased lipid levels in adult with congenital heart disease: a systematic review and Meta-analysis. BMC cardiovascular disorders, 2023, 23(1): 523. DOI:10.1186/s12872-023-03455-w.

[5]  Zhao, M.*, Wang, C.*, Li, P., Sun, T., Wang, J., Zhang, S., Ma, Q., Ma, F., Shi, W., Shi, M., Ma, Y., Pan, Y., Zhang, H., Xie, X#. Single-cell RNA sequencing reveals the transcriptomic characteristics of peripheral blood mononuclear cells in hepatitis B vaccine non-responders. Frontiers in Immunology, 2023, 14: 1091237. DOI:10.3389/fimmu.2023.1091237.

[6]  Li, P.*, Huang, X., Chai, S., Zhu, D., Huang, H., Ma, F., Zhang, S., Xie, X#. A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation. Frontiers in Genetics, 2022, 13: 936292. DOI:10.3389/fgene.2022.936292.

[7]  李培强, 陈馨怡, 谢小冬, 苏刚, 李炯, 吴骅. PBL、CBL、TBL教学法在医学遗传学教学中应用效果的Meta分析. 卫生职业教育. 2022;40(01):50-55.

[8]  Liu, W.*, Cheng, L.*, Chen, K., Wu, J., Peng, R., Tang, Y. L., Chen, J., Yang, Y., Li, P.#, Huang, Z. P#. Identification of Novel Single-Nucleotide Variants With Potential of Mediating Malfunction of MicroRNA in Congenital Heart Disease. Frontiers in Cardiovascular Medicine, 2021, 8: 739598. DOI:10.3389/fcvm.2021.739598.

[9]  Huang, H. R.*, Li, P. Q.#, Wan, Y. X. Primary intratracheal schwannoma misdiagnosed as severe asthma in an adolescent: A case report. World Journal of Clinical Cases, 2021, 9(17): 4388-4394. DOI:10.12998/wjcc.v9.i17.4388.

[10] Zhu, M. J.*, Ma, X. Y., Ding, P. C., Tang, H. F., Peng, R., Lu, L., Li, P. Q., Qiao, B., Yang, X. Y., Zheng, Y. F., Wang, H. Y., Gao, Y. Q., Chen, F. S.# Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort. Journal of Human Genetics, 2019, 64(5): 427-435. DOI:10.1038/s10038-019-0572-x.

[11] Ma, Y.*, Xie, N., Xie, D., Sun, L., Li, S., Li, P., Li, Y., Li, J., Dong, Z., Xie, X.# A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family. Fertility and Sterility, 2019, 111(5): 909-917.e1. DOI:10.1016/j.fertnstert.2019.01.007.

[12] Cheng, L.*, Li, P.*, Wang, H., Yang, X., Zhou, H., Tao, W., Tian, J.#, Wang, H. #Decreased activity of RCAN1.4 is a potential risk factor for congenital heart disease in a Han Chinese population. Protein & Cell, 2018, 9(12): 1039-1044. DOI:10.1007/s13238-018-0525-8.

[13] Xie, H. H.*, Li, J., Li, P. Q., Zhang, A. A., Li, Y., Wang, Y. Z., Xie, D. X., Xie, X. D. A genetic variant in a homocysteine metabolic gene that increases the risk of congenital cardiac septal defects in Han Chinese populations. IUBMB life, 2017, 69(9): 700-705. DOI:10.1002/iub.1651.

[14] Li, P.*, Huang, L.*, Zheng, Y., Pan, X., Peng, R., Jiang, Y., Finnell, R. H., Li, H., Qiao, B., Wang, H. Y.# A missense mutation in TCN2 is associated with decreased risk for congenital heart defects and may increase cellular uptake of vitamin B12 via Megalin. Oncotarget, 2017, 8(33): 55216-55229. DOI:10.18632/oncotarget.19377.

[15] Li, P.*, Li, H., Zheng, Y., Qiao, B., Duan, W., Huang, L., Liu, W., Wang, H.# Variants in the Regulatory Region of WNT5A Reduced Risk of Cardiac Conotruncal Malformations in the Chinese Population. Scientific Reports, 2015, 5: 13120. DOI:10.1038/srep13120.

[16] Sun, X.*, Meng, Y., You, T., Li, P., Wu, H., Yu, M., Xie, X.# Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population. Molecular Biology Reports, 2013, 40(2): 1291-1299. DOI:10.1007/s11033-012-2172-0.

[17] Liang, Y. L.*, Wu, H., Shen, X., Li, P. Q., Yang, X. Q., Liang, L., Tian, W. H., Zhang, L. F., Xie, X. D.# Association of STAT4 rs7574865 polymorphism with autoimmune diseases: a meta-analysis. Molecular Biology Reports, 2012, 39(9): 8873-8882. DOI:10.1007/s11033-012-1754-1.

[18] Yao, T.*, Yang, L., Li, P. Q., Wu, H., Xie, H. B., Shen, X., Xie, X. D. Association of Wnt3A gene variants with non-syndromic cleft lip with or without cleft palate in Chinese population. Archives of Oral Biology, 2011, 56(1): 73-78. DOI:10.1016/j.archoralbio.2010.09.002.

[19] Wei, L.*, Zhao, Y., Guo, T. kang, Li, P. qiang, Wu, H., Xie, H. bing, Ma, K. jun, Gao, F., Xie, X. dong. Association of mtDNA D-loop polymorphisms with risk of gastric cancer in Chinese population. Pathology oncology research: POR, 2011, 17(3): 735-742. DOI:10.1007/s12253-011-9378-7.

[20] Shen, X.*, Liu, R. M., Yang, L., Wu, H., Li, P. Q., Liang, Y. L., Xie, X. D., Yao, T., Zhang, T. T., Yu, M. The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese population. Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011, 91(10): 918-924. DOI:10.1002/bdra.20840.

[21] Liang, Y. L.*, Wu, H., Li, P. Q., Xie, X. D., Shen, X., Yang, X. Q., Cheng, X., Liang, L. Signal transducer and activator of transcription 4 gene polymorphisms associated with rheumatoid arthritis in Northwestern Chinese Han population. Life Sciences, 2011, 89(5-6): 171-175. DOI:10.1016/j.lfs.2011.05.012.

[22] Nirala, S. K.*, Li, P., Bhadauria, M., Guo, G. Combined effects of gallic acid and propolis on beryllium-induced hepatorenal toxicity. Integrative Zoology, 2008, 3(3): 194-207. DOI:10.1111/j.1749-4877.2008.00090.x.

[23] Liu, J. X.*, Liu, J., Li, P. Q., Xie, X. D., Guo, Q., Tian, L. M., Ma, X. Q., Zhang, J. P., Liu, J., Gao, J. Y. Association of sterol regulatory element-binding protein-1c gene polymorphism with type 2 diabetes mellitus, insulin resistance and blood lipid levels in Chinese population. Diabetes Research and Clinical Practice, 2008, 82(1): 42-47. DOI:10.1016/j.diabres.2008.06.017.

[24] You, C. ge*, Li, J. feng, Xie, X. dong, Zhu, Y., Li, P. qiang, Chen, Y. rong. Association of interleukin-1 genetic polymorphisms with the risk of rheumatoid arthritis in Chinese population. Clinical Chemistry and Laboratory Medicine, 2007, 45(8): 968-971. DOI:10.1515/CCLM.2007.156.

共同第一作者*，通讯作者及共同通讯作者#