近期论文
查看导师新发文章
（温馨提示：请注意重名现象，建议点开原文通过作者单位确认）
Pan Z, Wang W, Wu L, Yao Z, Wang W, Chen Y, Gu H, Dong J, Mu J, Zhang Z, Fu J, Li Q, Wang L, Sun X, Kuang Y, Sang Q*, Chen B*.Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility. Hum Genet. 2024 Jan 22.doi: 10.1007/s00439-023-02633-2. Online ahead of print.
Sang Q, Ray PF, Wang L*. Understanding the genetics of human infertility. Science. 2023 Apr 14;380(6641):158-163.(Invited review)
Zhang Z*, Liu R, Zhou H, Luo Y, Mu J, Fu J, Wu T, Chen B, Sang Q*, Wang L*. YBX2-dependent stabilization of oocyte mRNA through a reversible sponge-like cortical partition. Cell Res. 2023 Aug;33(8):640-643.
Dong J, Jin L, Bao S, Chen B, Zeng Y, Luo Y, Du X, Sang Q*, Wu T*, Wang L*. Ectopic expression of human TUBB8 leads to increased aneuploidy in mouse oocytes. Cell Discov. 2023 Oct 24;9:105.
Li Q, Zhao L, Zeng Y, Kuang Y, Guan Y, Chen B, Xu S, Tang B, Wu L, Mao X, Sun X, Shi J, Xu P, Diao F, Xue S, Bao S, Meng Q, Yuan P, Wang W, Ma N, Song D, Xu B, Dong J, Mu J, Zhang Z, Fan H, Gu H, Li Q, He L, Jin L, Wang L*, Sang Q*. Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects. Genome Biol. 2023 Apr 06;24(68).
Wang W, Miyamoto Y, Chen B, Shi J, Diao F, Zheng W, Li Q, Yu L, Li L, Xu Y, Wu L, Mao X, Fu J, Li B, Yan Z, Shi R, Xue X, Mu J, Zhang Z, Wu T, Zhao L, Wang W, Zhou Z, Dong J, Li Q, Jin L, He L, Sun X, Lin G, Kuang Y*, Wang L* and Sang Q*. Karyopherin α deficiency contributes to human preimplantation embryo arrest. J Clin Invest. 2023 Jan 17;133(2):e159951.(Featured by JCI and JCI insight)
Wang W, Guo J, Shi J, Li Q, Chen B, Pan Z, Qu R, Fu J, Shi R, Xue X, Mu J, Zhang Z, Wu T, Wang W, Zhao L, Li Q, He L, Sun X, Sang Q, Lin G*, Wang L*. Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility. EMBO Mol Med. 2023 Jun 7;15(6):e17177.(Featured and News by EMBO Mol Med)
Wu T, Sang Q, Wang L*. Mechanism of spindle assembly regulated by the human oocyte microtubule organizing centre in human oocytes. Clin Transl Med. 2023 Sep;13(9):e1222. (Invited commentary)
Zhang Z*, Zhou H, Deng X, Zhang R, Qu R, Mu J, Liu R, Zeng Y, Chen B, Wang L, Sang Q*, Bao S*.IQUB deficiency causes male infertility by affecting the activity of p-ERK1/2/RSPH3. Hum Reprod. 2023 Jan 5;38(1):168-179.
Fan H, Zhou Z, Zheng W, Guan Y, Meng Q, Wang W, Dong J, Wan L, Zhu J, Zeng Y, Liu R, Gu H, Lin G, Chen B*, Sang Q*, Wang L*. Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects. Hum Genet. 2023 Nov;142(11):1621-1631.
Qu R, Zhang Z, Wu L, Li Q, Mu J, Zhao L, Yan Z, Wang W, Zeng Y, Liu R, Dong J, Li Q, Sun X, Wang L, Sang Q*, Chen B*, Kuang Y*. ADGB variants cause asthenozoospermia and male infertility. Hum Genet. 2023 Jun;142(6):735-748.
Zhang Z, Liu R, Zhou H, Li Q, Qu R, Wang W, Zhou Z, Yu R, Zeng Y, Mu J, Chen B, Guo X*, Sang Q*, Wang L*. PATL2 regulates mRNA homeostasis in oocytes by interacting with EIF4E and CPEB1. Development. 2023 Jun 15;150(12):dev201572.
Liu R, Qu R, Li Q, Chen B, Mu J, Zeng Y, Luo Y, Xu F, Wang L*, Zhang Z*, Sang Q*.ARRDC5 deficiency impairs spermatogenesis by affecting SUN5 and NDC1.Development. 2023 Nov 23.
Zeng Y, Chen B, SunY, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y*, Wang L*. Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects. Hum Mol Genet. 2023 Jul 4;32(14):2326-2334.
Zeng Y, Li L, Li Q, Hu J, Zhang N, Wu L, Yan Z, Qu R, Dong J, Liu R, Choy KW, Wang L, Sang Q, Guan Y*, Chen B*. Genetic Screening in Patients with Ovarian Dysfunction. Clin Genet. 2023 Mar;103(3):352-357.
Zhou Z, Fan H, Shi R, Zeng Y, Liu R, Gu H, Li Q, Sang Q, Wang L, Shi J*, Chen B*. A novel homozygous variant in ZFP36L2 cause female infertility due to oocyte maturation defect. Clin Genet. 2023 Oct;104(4):461-465.
Wu T, Dong J, Fu J, Kuang Y, Chen B, Gu H, Luo Y, Gu R, Zhang M, Li W, Dong X, Sun X*, Sang Q*, Wang L*. The mechanism of acentrosomal spindle assembly in human oocytes. Science. 2022 Nov 18; 378(6621): eabq7361.(Featured by Science and Nat Struct Mol Biol)
Zhao L, Li Q, Kuang Y, Xu P, Sun X, Meng Q, Wang W, Zeng Y, Chen B, Fu J, Dong J, Zhu J, Luo Y, Gu H, Li C, Li C, Wu L, Mao X, Fan H, Liu R, Zhang Z, Li Q, Du J, He L, Jin L, Wang L*, Sang Q*.Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest. Genet Med. 2022 Nov;24(11):2274-2284.
Zeng Y, Shi J, Xu S, Shi R, Wu T, Li H, Xue X, Zhu Y, Chen B, Sang Q*, Wang L*. Bi-allelic mutations in MOS cause female infertility characterized by preimplantation embryonic arrest. Hum Reprod. 2022 Mar 1;37(3):612-620.
Liu R, Yan Z, Fan Y, Qu R, Chen B, Li B, Wu L, Wu H, Mu J, Zhao L, Wang W, Dong J, Zeng Y, Li Q, Wang L, Sang Q*, Zhang Z*, Kuang Y*.Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility. Hum Reprod. 2022 Jun 30;37(7):1394-1405.
Wu T*, Gu H, Luo Y, Wang L, Sang Q*.Meiotic defects in human oocytes: Potential causes and clinical implications. Bioessays. 2022 Dec;44(12):e2200135.(Invited review)
Dong J, Fu J, Yan Z, Li L, Qiu Y, Zeng Y, Liu R, Chen B, Shi R, Diao F, Wang L, Shi Q*, Sang Q*. Novel biallelic mutations in PADI6 in patients with early embryonic arrest. J Hum Genet. 2022 May;67(5):285-293.
Wang L*, Sang Q*. MOS is a novel genetic marker for human early embryonic arrest and fragmentation. EMBO Mol Med. 2021 Dec 7;13(12):e15323.(Invited commentary)
Wang W, Wang W, Xu Y, Shi J, Fu J, Chen B, Mu J, Zhang Z, Zhao L, Lin J, Du J, Li Q, He L, Jin L, Sun X*, Wang L*, Sang Q*. FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Hum Reprod. 2021 Jul 19;36(8):2392-2402.
Dong J, Zhang H, Mao X, Zhu J, Li D, Fu J, Hu J, Wu L, Chen B, Sun Y, Mu J, Zhang Z, Sun X, Zhao L, Wang W, Wang W, Zhou Z, Zeng Y, Du J, Li Q, He L, Jin L, Kuang Y, Wang L*, Sang Q*. Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure. Hum Reprod. 2021 Jul 19;36(8):2371-2381.
Zhao L, Guan Y, Meng Q, Wang W, Wu L, Chen B, Hu J, Zhu J, Zhang Z, Mu J, Chen Y, Sun Y, Wu T, Wang W, Zhou Z, Dong J, Zeng Y, Liu R, Li Q, Du J, Kuang Y, Sang Q*,Wang L*. Identification of novel mutations in CDC20: expanding the mutational spectrum for female infertility. Front Cell Dev Biol. 2021 Apr 9;9:647130.
Wang W, Qu R, Dou Q, Wu F, Wang W, Chen B, Mu J, Zhang Z, Zhao L, Zhou Z, Dong J, Zeng Y, Liu R, Du J, Zhu S, Li Q, He L, Jin L, Wang L*, Sang Q*. Homozygous variants in PANX1 cause human oocyte death and female infertility. Eur J Hum Genet. 2021 Sep;29(9):1396-1404.
Sang Q*, Zhou Z, Mu J, Wang L*. Genetic factors as potential molecular markers of human oocyte and embryo quality. J Assist Reprod Genet.2021 May;38(5):993-1002.(Invited review)
Zhou Z, Mao X, Chen B, Mu J, Wang W, Li B, Yan Z, Dong J, Li Q, Kuang Y, Wang L, Wu L*, Sang Q*. A novel splicing variant in DNAH8 causes asthenozoospermia. J Assist Reprod Genet. 2021 Jun;38(6):1545-1550.
Sun Y, Zeng Y, Chen H, Zhou Z, Fu J, Sang Q, Wang L, Sun X, Chen B*, Xu C*. A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility. J Assist Reprod Genet. 2021 May;38(5):1239-1245.
Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q*, Wang L*. Bi-allelic missense pathogenic variants in TRIP13 cause female infertility characterized by oocyte maturation arrest. Am J Hum Genet. 2020 Jul 2;107(1):15-23.
Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, Shi R, Lu G, Chen B, Fan H, Wang L, Lin G*, Sang Q*. Homozygous mutations in BTG4 cause zygotic cleavage failure and female infertility. Am J Hum Genet. 2020 Jul 2;107(1):24-33.
Zhao L, Xue S, Yao Z, Shi J, Chen B, Wu L, Sun L, Xu Y, Yan Z, Li B, Mao X, Fu J, Zhang Z, Mu J, Wang W, Du J, Liu S, Dong J, Wang W, Li Q, He L, Jin L, Liang X, Kuang Y, Sun X, Wang L*, Sang Q*. Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development. Protein Cell. 2020 Dec;11(12):921-927.
Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L*, Sang Q*. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. J Med Genet. 2020 Mar;57(3):187-194.
Mu J, Zhang Z, Wu L, Fu J, Chen B, Yan Z, Li B, Zhou Z, Wang W, Zhao L, Dong J, Kuang Y, Sun X, He L, Wang L*, Sang Q*. The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation. Mol Hum Reprod. 2020 Feb 29;26(2):80-87.
Lin J, Xu H, Chen B, Wang W, Wang L*, Sun X*, Sang Q*. Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations. J Assist Reprod Genet. 2020 Feb;37(2):437-442.
Zhang Z, Wu L, Diao F, Chen B, Fu J, Mao X, Yan Z, Li B, Mu J, Zhou Z, Wang W, Zhao L, Dong J, Zeng Y, Du J, Kuang Y, Sun X, He L, Sang Q*, Wang L*. Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome. J Assist Reprod Genet. 2020 Nov;37(11):2861-2868.
Zhao L, Guan Y, Wang W, Chen B, Xu S, Wu L, Yan Z, Li B, Fu J, Shi R, Shi J, Du J, Li Q, Zhang Z, Mu J, Zhou Z, Dong J, Jin L, He L, Sun X, Kuang Y, Wang L*, Sang Q*. Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations. J Assist Reprod Genet. 2020 Aug;37(8):1837-1847.
Qu R, Sang Q, Wang X, Xu Y, Chen B, Mu J, Zhang Z, Jin L, He L, Wang L*. A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. Ann Hum Genet. 2020 Jan;84(1):46-53.
Sang Q*, Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W, Zhang J, Wu L, Mao X, Chen B, Mu J, Li Q, Du J, Sun Q, Jin L, He L, Zhu S, Kuang Y*, Wang L*. A pannexin 1 channelopathy causes human oocyte death. Sci Transl Med. 2019 Mar 27;11(485): eaav8731.(Recommended by F1000Prime)
Mu J, Wang W, Chen B, Wu L, Li B, Mao X, Zhang Z, Fu J, Kuang Y, Sun X, Li Q, Jin L, He L, Sang Q*, Wang L*. Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest. J Med Genet.2019 Jul;56(7):471-480.
Zhou Z, Ni C, Wu L, Chen B, Xu Y, Zhang Z, Mu J, Li B, Yan Z, Fu J, Wang W, Zhao L, Dong J, Sun X, Kuang Y, Sang Q*, Wang L*. Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. Hum Genet. 2019 Apr;138(4):327-337.
Wu L, Chen H, Li D, Song D, Chen B, Yan Z, Lyu Q, Wang L, Kuang Y, Li B*, Sang Q*. Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility. J Hum Genet. 2019 May;64(5):379-385.
Zhang Z, Mu J, Zhao J, Zhou Z, Chen B, Wu L, Yan Z, Wang W, Zhao L, Dong J, Sun X, Kuang Y, Li B*, Wang L, Sang Q*. Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure. Clin Genet. 2019 Apr;95(4):520-524.
Chen B, Wang W, Peng X, Jiang H, Zhang S, Li D, Li B, Fu J, Kuang Y, Sun X, Wang X, Zhang Z, Wu L, Zhou Z, Lyu Q, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Sang Q*, Wang L*. The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility. Eur J Hum Genet. 2019 Feb;27(2):300-307.
Sang Q*, Li B, Kuang Y, Wang X, Zhang Z, Chen B, Wu L, Lyu Q, Fu Y, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Wang L*. Homozygous mutations in WEE2 cause fertilization failure and female infertility. Am J Hum Genet. 2018 Apr 5;102(4):649-657.
Wang X, Song D, Mykytenko D, Kuang Y, Lv Q, Li B, Chen B, Mao X, Xu Y, Zukin V, Mazur P, Mu J, Yan Z, Zhou Z, Li Q, Liu S, Jin L, He L, Sang Q, Sun Z*, Dong X*, Wang L*. Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest. Reprod Biomed Online. 2018 Jun; 36(6):698-704.
Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q*, Wang L*. Biallelic mutations in PATL2 cause female infertility characterized by oocyte maturation arrest. Am J Hum Genet. 2017 Oct 5;101(4):609-615.
Chen B, Li B, Li D, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Kuang Y, Sang Q*, Wang L*. Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development. Hum Reprod. 2017 Feb;32(2):457-464.
Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ*, Wang L*. Mutations in TUBB8 and human oocyte meiotic arrest. N Engl J Med. 2016 Jan 21;374(3):223-32.(Featured by N Eng J Med)
Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X*, Wang L*. Mutations in PADI6 cause female infertility characterized by early embryonic arrest. Am J Hum Genet. 2016, Sep 1;99(3):744-52.
Feng R, Yan Z, Li B, Yu M, Sang Q, Tian G, Xu Y, Chen B, Qu R, Sun Z, Sun X, Jin L, He L, Kuang Y, Cowan NJ, Wang L*. Mutations in TUBB8 cause a multiplicity of phenotype in human oocytes and early embryos. J Med Genet. 2016 Oct;53(10):662-71.
Qu R, Sang Q, Xu Y, Feng R, Jin L, He L and Wang L*. Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment. Int J Pediatr Otorhinolaryngol. 2016 May;84:43-7.
Feng R, Sang Q, Zhu Y, Fu W, Liu M, Xu Y, Shi H, Xu Y, Qu R, Chai R, Shao R, Jin L, He L, Sun X*, Wang L*. MiRNA-320 in the human follicular fluid is associated with embryo quality in vivo and affects mouse embryonic development in vitro. Sci Rep. 2015 Mar 3;5:8689.
Sang Q, Mei H, Kuermanhan A, Feng R, Guo L, Qu R, Xu Y, Li H, Jin L, He L, Wang L*. Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment. Mol Genet Genomics. 2015 Jun;290(3):1135-9.
Sang Q, Li W, Xu Y, Qu R, Xu Z, Feng R, Jin L, He L, Li H*, Wang L*. ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42. Biol Open. 2015 Mar 27;4(4):411-8.
Li Q, Du J, Feng R, Xu Y, Wang H, Sang Q, Xing Q, Zhao X, Jin L, He L, Wang L*. A possible new mechanism in the pathophysiology of polycystic ovary syndrome: The discovery that leukocyte telomere length is strongly associated with PCOS. J Clin Endocrinol Metab. 2014 Feb; 99(2):E234-40.
Sang Q, Zhang J, Feng R, Wang X, Li Q, Zhao X, Xing Q, Chen W, Du J, Sun S, Chai R, Liu D, Jin L, He L, Li H*, Wang L*. Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42. Hum Mol Genet. 2014 Dec 1;23(23):6201-11.
Sang Q, Li X, Wang H, Wang H, Zhang S, Feng R, Xu Y, Li Q, Zhao X, Xing Q, Jin L, He L, Wang L*. Quantitative methylation level of the EPHX1 promoter in peripheral blood DNA is associated with polycystic ovary syndrome. PLoS One. 2014 Feb 5;9(2):e88013.
Sang Q, Yao Z, Wang H, Feng R, Wang H, Zhao X, Xing Q, Jin L, He L, Wu L*, Wang L*. Identification of microRNAs in human follicular fluid: characterization of microRNAs that govern steroidogenesis in vitro and are associated with polycystic ovary syndrome in vivo. J Clin Endocrinol Metab. 2013 Jul;98 (7):3068-3079.(Awarded as International Award for publishing Excellence in JCEM in 2013)
Sang Q, Yan X, Wang H, Feng R, Fei X, Ma D, Xing Q, Li Q, Zhao X, Jin L, He L, Li H*, Wang L*. Identification and functional study of a new missense mutation inthe motor head domain of myosin VIIA in family with autosomal dominant hearing impairment (DFNA11). PLOS One. 2013;8(1):e55178.
Sang Q, Zhang S, Zou S, Wang H, Feng R, Li Q, Jin L, He L, Xing Q*, Wang L*. Quantitative analysis of follistatin(FST) promoter methylation in peripheral blood of patients with polycystic ovary syndrome. Reprod Biomed Online. 2013 Feb;26(2):157-63.
Zou S, Sang Q, Wang H, Feng R, Li Q, Zhao X, Xing Q, Jin L, He L, Wang L*. Common genetic variation in CYP1B1 is associated with concentrations of T3, FT3 and FT4 in the sera of polycystic ovary syndrome patients. Mol Biol Rep. 2013 Apr;40(4):3315-20.
Li Q, Yang G, Wang Y, Zhang X, Sang Q, Wang H, Zhao X, Xing Q, He L*, Wang L*. Common genetic variation in the 3 '-untranslated region of gonadotropin-releasing hormone receptor regulates gene expression in cella and is associated with thyroid function, insulin secretion as well as insulin sensitivity in polycystic ovary syndrome patients. Hum Genet. 2011 May;129(5):553-61.
Wang H, Li Q, Wang T, Yang G, Wang Y, Zhang X, Sang Q, Wang H, Zhao X, Xing Q, Shi J, He L, Wang L*. A common polymorphism in the human aromatase gene alters the risk for polycystic ovary syndrome and modifies aromatase activity in vitro. Mol Hum Reprod. 2011 Jun;17(6):386-91.
京公网安备 11010802027423号