Molecular&Cell Genetics Laboratory
Mol&Cell Genet
English Version
主要论文(*:corresponding author)
1. Ma A#, Zhou J#, Ali H#, Abbas T#, Ali I, Muhammad Z, Dil S, Chen J, Huang X, Ma H, Zhao D, Zhang B, Zhang Y, Shah W, Shah B, Murtaza G, Iqbal F, Khan MA, Khan A, Li Q, Xu B, Wu L, Zhang H*, Shi Q*. Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. JCI Insight. 2023 Feb 8;8(3):e166869

2. Li Y#, Wu Y#, Khan I#, Zhou J, Lu Y, Ye J, Liu J, Xie X, Hu C, Jiang H, Fan S, Zhang H, Zhang Y, Jiang X, Xu B, Ma H*, Shi Q*. M1AP interacts with the mammalian ZZS complex and promotes male meiotic recombination. EMBO Rep. 2023 Feb 6; 24(2):e55778

3. Dil S#, Ye J, Ma H, Unar A, Khan I, Ali A, Khan K, Menglei Y, Ma A, Shah B, Khan R, Liu Z*, Shi Q*. Cornichon protein CNIH4 is not essential for mice gametogenesis and fertility. Dev Biol. 2023;496:15-23

4. Tian C#, Shen L, Gong C, Cao Y, Shi Q*, Shi Q*, Zhao G*.Microencapsulation and nanowarming enables vitrification cryopreservation of mouse preantral follicles. Nat Comm. 2022;13(1)7515

5. Ma H#, Li T#, Xie X#, Jiang L, Ye J, Gong C, Jiang H, Fan S, Zhang H, Shi B, Zhang B, Jiang X, Li Y, Zhou J, Xu J, Zhang X, Hou X, Yin H*, Zhang Y*, Shi Q*. RAD51AP2 is required for efficient meiotic recombination between X and Y chromosomes. Sci Adv. 2022;8(2)eabk1789

6. Zubair M#, Khan R, Ma A, Hameed U, Khan M, Abbas T, Ahmad R, Zhou J, Shah W, Hussain A, Ahmed N, Khan I, Khan K, Zhang Y, Zhang H, Wu L*, Shi Q*. A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms. Asian J Androl. 2022;24(3):255-259

7. Xu J#, Gao J#, Liu J, Huang X, Zhang H, Ma A, Ye J, Zhang X, Li Y, Yang G, Yin H, Khan R, Li T, Fan S, Jiang X, Zhang Y, Jiang H*, Ma H*, Shi Q*. ZFP541 maintains the repression of pre-pachytene transcriptional programs and promotes male meiosis progression. Cell Rep. 2022;38(12)110540

8. Xie X#, Murtaza G#, Li Y, Zhou J, Ye J, Khan R, Jiang L, Khan I, Zubair M, Yin H, Jiang H, Liu W, Shi B, Hou X, Gong C, Fan S, Wang Y, Jiang X, Zhang Y, Zhang H*, Ma H*, Shi Q*. Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees. Hum Reprod. 2022;37(7):1664-1677

9. Xie X*#, Khan M*#, Zubair M, Khan A, Khan R, Zhou J, Zhang Y, Said M, Khan SA, Zaman Q, Murtaza G, Khan MA, Liu W, Hou X, Zhang H, Xu B, Jiang X, Bai S*, Shi Q*. A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans. Front Genet. 2022;131017302

10. Ma A#, Zeb A#, Ali I, Zhao D, Khan A, Zhang B, Zhou J, Khan R, Zhang H, Zhang Y, Khan I, Shah W, Ali H, Javed AR, Ma H*, Shi Q*. Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility. Front Cell Dev Biol. 2022;9803818

11. Liu W#, Wang Y, Zhang H, Xie X, Ma A, Zaman Q, Javed AR, Abbas T, Shah W, Ahmad R, Zhao D, Ma H, Zubair M, Khan R*, Shi Q*. Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice. Zoolog Res. 2022;43(2):225-228

12. Jiang H#, Zhang Y, Ma H, Fan S, Zhang H, Shi Q*. Identification of pathogenic mutations from nonobstructive azoospermia patients. Biol Reprod. 2022;107(1):85-94

13. Hao H#, Shi B#, Zhang J#, Dai A#, Li W#, Chen H, Ji W, Gong C, Zhang C, Li J, Chen L, Yao B, Hu P, Yang H, Brosius J, Lai S*, Shi Q*, Shi Q*, Deng C*.The vertebrate- and testis- specific transmembrane protein C11ORF94 plays a critical role in sperm-oocyte membrane binding. Mol Biomed. 2022;3(1)27

14. Gong C#, Abbas T#, Muhammad Z, Zhou J, Khan R, Ma H, Zhang H, Shi Q*, Shi Q*, Shi B*.A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. Int J Mol Sci. 2022;23(12)6522

15. Ghouchanatigh MD#, Khan R, Mojarrad M, Hameed U, Zubair M, Waqas A, Jalali M, Kalantari M, Shamsa A, Zhang H*, Shi Q*. CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family. Asian J Androl. 2022;24(4):416-421

16. Gao J#, Zhang H#, Jiang X*#, Ali A#, Zhao D, Bao J, Jiang L, Iqbal F, Shi Q*, Shi Q*, Zhang Y*.FertilityOnline: A Straightforward Pipeline for Functional Gene Annotation and Disease Mutation Discovery. Genomics, Proteomics and Bioinformatics. 2022;20(3):455-465

17. Chen R#, Ma T, Du S, Luo J, Zhang H, Xu X, Cao Z, Yuan Z, Sun H, Liu M, Xiong B, Shi Q*, Shi Q*, Liu JY*.Impaired fertility in 4930590J08Rik mutant male mice is associated with defective sperm energy metabolism. Faseb J. 2022;36(12)e22634

18. Bukhari I#, Thorne RF*, Shi Q*. Editorial: Molecular and cytogenetic research advances in human reproduction. Front Endocrinol. 2022;131107903

19. Ali H#, Unar A, Zubair M, Dil S, Ullah F, Khan I, Hussain A, Shi Q*. In silico analysis of a novel pathogenic variant c.7G>A in C14orf39 gene identified by WES in a Pakistani family with azoospermia. Mol Genet Genomics. 2022;297(3):719-730

20. Ali H#, Unar A, Dil S, Ali I, Khan K, Khan I, Shi Q*. Testis-specific fascin component FSCN3 is dispensable for mouse spermatogenesis and fertility. Mol Biol Rep. 2022;49(7):6261-6268

21. Zhou J#, Gao J#, Zhang H#, Zhao D, Li A, Iqbal F, Shi Q*, Shi Q*, Zhang Y*.PedMiner: A tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data. Brief Bioinform. 2021;22(3)bbaa077

22. Zhang X#, Li M, Jiang X*, Ma H, Fan S, Li Y, Yu C, Xu J, Khan R, Jiang H*, Shi Q*. Nuclear translocation of MTL5 from cytoplasm requires its direct interaction with LIN9 and is essential for male meiosis and fertility. PLoS Genet. 2021;17(8)e1009753

23. Zhang B#, Khan I#, Liu C#, Ma A, Khan A, Zhang Y, Zhang H, Kakakhel MBS, Zhou J, Zhang W, Li Y, Ali A, Jiang X, Murtaza G, Khan R, Zubair M, Yuan L, Khan M, Wang L, Zhang F, Wang X*, Ma H*, Shi Q*. Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice. Clin Genet. 2021;99(1):176-186

24. Zaman Q#, Khan R, Hameed U, Shah W, Waqas A, Zubair M, Dil S, Zafar T, Ali A, Unar A, Shi Q*. Exonuclease 5 is dispensable for meiotic progression and male fertility in mouse. Gene. 2021;769145254

25. Yu C#, Diao R, Khan R, Deng C, Ma H, Chang Z, Jiang X*, Shi Q*. The Dispensable Roles of X-Linked Ubl4a and Its Autosomal Counterpart Ubl4b in Spermatogenesis Represent a New Evolutionary Type of X-Derived Retrogenes. Front Genet. 2021;12689902

26. Wu Y#, Li Y, Murtaza G, Zhou J, Jiao Y, Gong C, Hu C, Han Q, Zhang H, Zhang Y, Shi B, Ma H*, Jiang X*, Shi Q*. Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB. Hum Reprod. 2021;36(10):2793-2804

27. Shah W#, Khan R*, Shah B, Dil S, Shi Q*. Knockout of the family with sequence similarity 181, member A (Fam181a) gene does not impair spermatogenesis or male fertility in the mouse. Reprod Fertil Dev. 2021;33(10):674-681

28. Shah B#, Khan R*, Shah W, Aftab A, Khan M, Dil S, Shi Q*. Inactivation of testis-specific gene C4orf46 is dispensable for spermatogenesis and fertility in mouse. Mamm Genome. 2021;32(5):364-370

29. Pan Y#, Yang X, Zhang F, Chen S, Zhou Z, Yin H, Ma H, Shang L, Yang J, Li G, Wang Y, Jin L, Shi Q*, Shi Q*, Wu Y*.A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice. Mol Genet Genomics. 2021;296(1):103-112

30. Murtaza G#, Yang L, Khan I, Unar A, Khan M, Huan Z, Khan R*, Shi Q*. Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome. Genet Test Mol Biomarkers. 2021;25(10):654-659

31. Ma H#, Zhang B#, Khan A#, Zhao D, Ma A, Zhou J, Khan I, Khan K, Zhang H, Zhang Y, Jiang X, Dil S, Zeb A, Rahim F, Shi Q*. Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella. Hum Mol Genet. 2021;30(21):1977-1984

32. Liu C#, Tu C#, Wang L#, Wu H#, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ*, Zhang F*.Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Am J Hum Genet. 2021;108(2):309-323

33. Li Y#, Wu Y#, Jiang H, Khan R, Han Q, Iqbal F, Jiang X*, Shi Q*. The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility. Asian J Androl. 2021;23(6):555-561

34. Li Y#, Wu Y#, Zhou J, Zhang H, Zhang Y, Ma H, Jiang X*, Shi Q*. A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination. Hum Reprod. 2021;36(5):1436-1445

35. Khan R#, Zaman Q#, Chen J#, Khan M#, Ma A, Zhou J, Zhang B, Ali A, Naeem M, Zubair M, Zhao D, Shah W, Khan M, Zhang Y, Xu B*, Zhang H*, Shi Q*. Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice. Front Endocrinol. 2021;12765639

36. Khan R#, Jiang X*#, Hameed U, Shi Q*. Role of Lipid Metabolism and Signaling in Mammalian Oocyte Maturation, Quality, and Acquisition of Competence. Front Cell Dev Biol. 2021;9639704

37. Khan I#, Shah B#, Dil S, Ullah N, Zhou J, Zhao D, Zhang Y, Jiang X, Khan R, Khan A, Ali H, Zubair M, Shah W, Zhang H*, Shi Q*. Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families. Asian J Androl. 2021;23(6):627-632

38. Khan I#, Dil S, Zhang H, Zhang B, Khan T, Zeb A, Zhou J, Nawaz S, Zubair M, Khan K, Ma H*, Shi Q*. A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella. Reprod Biomed Online. 2021;43(5):913-919

39. Khan A#, Yuewen W, Dil S, Shah W, Shi Q*, Shi Q*, Khan R*.The evolutionarily conserved gene, Fam114a2, is dispensable for fertility in mouse. Reprod Biol. 2021;21(3)100531

40. Jiang X#, Zhu X#, Cheng Y#, Azhar M, Xing X, Li W, Cao Y*, Shi Q*, Shi Q*, Bao J*.The Spin1 interactor, Spindoc, is dispensable for meiotic division, but essential for haploid spermatid development in mice. Reprod Biol Endocrinol. 2021;19(1)144

41. Jiang X#, Zhao D#, Ali A#, Xu B, Liu W, Wen J, Zhang H*, Shi Q*, Shi Q*, Zhang Y*.MeiosisOnline: A Manually Curated Database for Tracking and Predicting Genes Associated With Meiosis. Front Cell Dev Biol. 2021;9673073

42. Guo T#, Sang M#, Bai S, Ma H, Wan Y, Jiang X, Zhang Y, Xu B, Chen H, Zheng X, Luo S, Xie X, Gong C, Weng J*, Shi Q*. Semen parameters in men recovered from COVID-19. Asian J Androl. 2021;23(5):479-483

43. Fan S#, Jiao Y#, Khan R#, Jiang X#, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y*, Shi Q*. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021;108(2):324-336

44. Dai X#, Jiang Y, Gu J, Jiang Z, Wu Y, Yu C, Yin H, Zhang J, Shi Q, Shen L*, Sha Q*, Fan H.The CNOT4 Subunit of the CCR4-NOT Complex is Involved in mRNA Degradation, Efficient DNA Damage Repair, and XY Chromosome Crossover during Male Germ Cell Meiosis. Adv Sci. 2021;8(10)2003636

45. Zhang B#, Ma H*#, Khan T#, Ma A, Li T, Zhang H, Gao J, Zhou J, Li Y, Yu C, Bao J, Ali A, Murtaza G, Yin H, Gao Q, Jiang X, Zhang F, Liu C, Khan I, Zubair M, Hussain HMJ, Khan R, Yousaf A, Yuan L, Lu Y, Xu X, Wang Y, Tao Q, Hao Q, Fang H, Cheng H, Zhang Y*, Shi Q*. A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. J Exp Med. 2020;217(2)e20182365

46. Yousaf A#, Wu Y, Khan R, Shah W, Khan I, Shi Q*, Shi Q*, Jiang X*.Normal spermatogenesis and fertility in Ddi1 (DNA damage inducible 1) mutant mice. Reprod Biol. 2020;20(4):520-524

47. Pan H#, Jiang N, Sun S, Jiang H, Xu J, Jiang X, Gao Q, Li L, Wu H, Zheng H, Qi Q, Li T, Zhang M, Zhang L, Wan X, Lin X, Wong J, Shi Q*, Shi Q*, Li R*.UHRF1-repressed 5’-hydroxymethylcytosine is essential for the male meiotic prophase I. Cell Death Dis. 2020;11(2)142

48. Liu X#, Wang X, Li J, Hu S, Deng Y, Yin H, Bao X, Zhang QC, Wang G, Wang B, Shi Q, Shan G*.Identification of mecciRNAs and their roles in the mitochondrial entry of proteins. Sci China Life Sci. 2020;63(10):1429-1449

49. Khan R#, Ye J, Yousaf A, Shah W, Aftab A, Shah B, Zaman Q, Zubair M, Shi Q*, Shi Q*, Jiang X*.Evolutionarily conserved and testis-specific gene, 4930524B15Rik, is not essential for mouse spermatogenesis and fertility. Mol Biol Rep. 2020;47(7):5207-5213

50. Jiao Y#, Fan S#, Jabeen N#, Zhang H#, Khan R, Murtaza G, Jiang H, Ali A, Li Y, Bao J, Zhang B, Xu J, Xu B, Hussain HMJ, Zaman Q, Khan I, Bukhari I, Iqbal F, Yousaf A, Dil S, Khan M, Ahmad N, Ma H*, Jiang X*, Zhang Y*, Shi Q*. A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility. Sci Bull. 2020;65(24):2120-2129

51. Hinch AG*#, Becker PW, Li T, Moralli D, Zhang G, Bycroft C, Green C, Keeney S, Shi Q, Davies B, Donnelly P*.The Configuration of RPA, RAD51, and DMC1 Binding in Meiosis Reveals the Nature of Critical Recombination Intermediates. Mol Cell. 2020;79(4):689-701

52. Gao Q#, Khan R#, Yu C, Alsheimer M, Jiang X*, Ma H*, Shi Q*. The testis-specific LINC component SUN3 is essential for sperm head shaping during mouse spermiogenesis. J Biol Chem. 2020;295(19):6289-6298

53. Gao L#, Chang S#, Xia W, Wang X, Zhang C, Cheng L, Liu X, Chen L, Shi Q, Huang J*, Xu EY*, Shan G*.Circular RNAs from BOULE play conserved roles in protection against stress-induced fertility decline. Sci Adv. 2020;6(46)eabb7426

54. Cui W#, He X, Zhai X, Zhang H, Zhang Y, Jin F, Song X, Wu D, Shi Q, Li L*.CARF promotes spermatogonial self-renewal and proliferation through Wnt signaling pathway. Cell Discov. 2020;6(1)85

55. Zheng W#, Nazish J, Wahab F, Khan R, Jiang X*, Shi Q*. Ddb1 regulates sertoli cell proliferation and testis cord remodeling by TGFβ pathway. Genes. 2019;10(12)974

56. Yin H#, Ma H#, Hussain S#, Zhang H, Xie X, Jiang L, Jiang X, Iqbal F, Bukhari I, Jiang H, Ali A, Zhong L, Li T, Fan S, Zhang B, Gao J, Li Y, Nazish J, Khan T, Khan M, Zubair M, Hao Q, Fang H, Huang J, Huleihel M, Sha J, Pandita TK, Zhang Y*, Shi Q*. A homozygous FANCM frameshift pathogenic variant causes male infertility. Genet Med. 2019;21(1):62-70

57. Yang X#, Zhang X#, Jiao J#, Zhang F#, Pan Y, Wang Q, Chen Q, Cai B, Tang S, Zhou Z, Chen S, Yin H, Fu W, Luo Y, Li D, Li G, Shang L, Yang J, Jin L, Shi Q*, Shi Q*, Wu Y*.Rare variants in FANCA induce premature ovarian insufficiency. Hum Genet. 2019;138(11-12):1227-1236

58. Xie Y#, Khan R, Wahab F, Hussain HMJ, Ali A, Ma H, Jiang H, Xu J, Zaman Q, Khan M, Jiang X*, Shi Q*. The testis-specifically expressed Dpep3 is not essential for male fertility in mice. Gene. 2019;711143925

59. Wang Y#, Wang H#, Zhang Y, Du Z, Si W, Fan S, Qin D, Wang M, Duan Y, Li L, Jiao Y, Li Y, Wang Q, Shi Q, Wu X*, Xie W*.Reprogramming of Meiotic Chromatin Architecture during Spermatogenesis. Mol Cell. 2019;73(3):547-561

60. Shi B#, Xue J, Yin H, Guo R, Luo M, Ye L, Shi Q, Huang X, Liu M, Sha J*, Wang PJ*.Dual functions for the ssDNA-binding protein RPA in meiotic recombination. PLoS Genet. 2019;15(2)e1007952

61. Jiang X#, Yin S#, Fan S#, Bao J, Jiao Y, Ali A, Iqbal F, Xu J, Zhang Y*, Shi Q*. Npat-dependent programmed Sertoli cell proliferation is indispensable for testis cord development and germ cell mitotic arrest. Faseb J. 2019;33(8):9075-9086

62. Huang Z#, Khan M, Xu J, Khan T, Ma H, Khan R, Hussain HMJ, Jiang X*, Shi Q*. The deubiquitinating gene Usp29 is dispensable for fertility in male mice. Sci China Life Sci. 2019;62(4):544-552

63. Zhang H#, Ali A#, Gao J, Ban R, Jiang X*, Zhang Y*, Shi Q*. IsopiRBank: A research resource for tracking piRNA isoforms. Database. 2018;2018(2018)

64. Shi B#, Xue J#, Zhou J, Kasowitz SD, Zhang Y, Liang G, Guan Y, Shi Q, Liu M, Sha J, Huang X*, Wang PJ*.MORC2B is essential for meiotic progression and fertility. PLoS Genet. 2018;14(1)e1007175

65. Jiang X#, Yu C, Guo T, Jin R, Luan H, Xu B, Zhang Y, Shi Q*. Genetic basis and mechanisms underlying human azoospermia. J Univ Sci Tech China. 2018;48(10):814-824

66. Jiang H#, Gao Q#, Zheng W, Yin S, Wang L, Zhong L, Ali A, Khan T, Hao Q, Fang H, Sun X, Xu P, Pandita TK, Jiang X*, Shi Q*. MOF influences meiotic expansion of H2AX phosphorylation and spermatogenesis in mice. PLoS Genet. 2018;14(5)e1007300

67. Bao J*#, Perez CJ, Kim J, Zhang H, Murphy CJ, Hamidi T, Jaubert J, Platt CD, Chou J, Deng M, Zhou MH, Huang Y, Gaitán-Pe?as H, Guénet JL, Lin K, Lu Y, Chen T, Bedford MT, Dent SY, Richburg JH, Estévez R, Pan HL, Geha RS, Shi Q, Benavides F*.Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice. JCI Insight. 2018;3(16)

68. Abumadighem A#, Solomon R, Stepanovsky A, Kapelushnik J, Shi Q, Meese E, Lunenfeld E, Huleihel M*.Development of spermatogenesis in vitro in three-dimensional culture from spermatogonial cells of busulfan-treated immature mice. Int J Mol Sci. 2018;19(12)3804

69. Abofoul-Azab M#, Abumadighem A, Lunenfeld E, Kapelushnik J, Shi Q, Pinkas H, Huleihel M*.Development of Postmeiotic Cells in Vitro from Spermatogonial Cells of Prepubertal Cancer Patients. Stem Cells Dev. 2018;27(15):1007-1020

70. Zhang T#, Lv L, Huang Y, Ren X, Shi Q*. Chromosome nondisjunction during bipolar mitoses of binucleated intermediates promote aneuploidy formation along with multipolar mitoses rather than chromosome loss in micronuclei induced by asbestos. Oncotarget. 2017;8(7):11030-11041

71. Yin S#, Jiang X#, Jiang H, Gao Q, Wang F, Fan S, Khan T, Jabeen N, Khan M, Ali A, Xu P, Pandita TK, Fan HY, Zhang Y, Shi Q*. Histone acetyltransferase KAT8 is essential for mouse oocyte development by regulating reactive oxygen species levels. Development (Cambridge). 2017;144(12):2165-2174

72. Wan C#, Gao J#, Zhang H#, Jiang X#, Zang Q, Ban R, Zhang Y*, Shi Q*. CPSS 2.0: A computational platform update for the analysis of small RNA sequencing data. Bioinformatics. 2017;33(20):3289-3291

73. Pan H#, Zhang X, Jiang H, Jiang X, Wang L, Qi Q, Bi Y, Wang J, Shi Q*, Shi Q*, Li R*.Ndrg3 gene regulates DSB repair during meiosis through modulation the ERK signal pathway in the male germ cells. Sci Rep-Uk. 2017;744440

74. Manzoor H#, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q*, Shi Q*, Naz S*.A novel APTX variant and ataxia with oculomotor apraxia type 1. J Clin Neu (Korea). 2017;13(3):303-305

75. Ma W#, Jia Y#, Liu Q, Yang Y, Yang J, Zhao Z, Yang Z, Shi Q, Ma H*, Gershwin ME, Lian Z*.Modulation of liver regeneration via myeloid pten deficiency. Cell Death Dis. 2017;8(5)e2827

76. Jiang L#, Li T#, Zhang X, Zhang B, Yu C, Li Y, Fan S, Jiang X, Khan T, Hao Q, Xu P, Nadano D, Huleihel M, Lunenfeld E, Wang PJ, Zhang Y*, Shi Q*. RPL10L Is Required for Male Meiotic Division by Compensating for RPL10 during Meiotic Sex Chromosome Inactivation in Mice. Curr Biol. 2017;27(10):1498-1505

77. Gao J#, Wan C#, Zhang H#, Li A#, Zang Q, Ban R, Ali A, Yu Z, Shi Q, Jiang X*, Zhang Y*.Anaconda: AN automated pipeline for somatic COpy Number variation Detection and Annotation from tumor exome sequencing data. BMC Bioinf. 2017;18(1)436

78. Zhou Q#, Wang M#, Yuan Y#, Wang X, Fu R, Wan H, Xie M, Liu M, Guo X, Zheng Y, Feng G, Shi Q, Zhao XY*, Sha J*, Zhou Q*.Complete Meiosis from Embryonic Stem Cell-Derived Germ Cells in Vitro. Cell Stem Cell. 2016;18(3):330-340

79. Zhang Y#, Zang Q#, Zhang H#, Ban R, Yang Y, Iqbal F, Li A*, Shi Q*. DeAnnIso: a tool for online detection and annotation of isomiRs from small RNA sequencing data. Nucleic Acids Res. 2016;44(1):W166-W175

80. Zhang Y#, Zang Q#, Xu B#, Zheng W#, Ban R, Zhang H, Yang Y, Hao Q, Iqbal F, Li A*, Shi Q*. IsomiR Bank: A research resource for tracking IsomiRs. Bioinformatics. 2016;32(13):2069-2071

81. Wu C#, Wang L#, Iqbal F, Jiang X, Bukhari I, Guo T, Yin G, Cooke HJ, Cao Z, Jiang H*, Shi Q*. Preferential Y-Y pairing and synapsis and abnormal meiotic recombination in a 47,XYY man with non obstructive azoospermia. Mol Cytogenet. 2016;9(1)9

82. Wang Y#, Ma H*, Yin X, Wang Y, Liu Q, Yang J, Shi Q, Sun B, Gershwin ME, Lian Z*.Forkhead Box O1 Regulates Macrophage Polarization Following Staphylococcus aureus Infection: Experimental Murine Data and Review of the Literature. Clin Rev Allergy Immun. 2016;51(3):353-369

83. Zhang Y#, Yu Z#, Ban R#, Zhang H#, Iqbal F, Zhao A, Li A*, Shi Q*. DeAnnCNV: A tool for online detection and annotation of copy number variations from whole-exome sequencing data. Nucleic Acids Res. 2015;43(W1):W289-W294

84. Wang L#, Xu Z, Iqbal F, Zhong L, Zhang Y, Wu C, Zhou G, Jiang H, Bukhari I, Cooke HJ, Shi Q*. Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man. Chromosome Res. 2015;23(2):267-276

85. Wang L#, Iqbal F*, Li G, Jiang X, Bukhari I, Jiang H, Yang Q, Zhong L, Zhang Y, Hua J, Cooke HJ, Shi Q*. Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man. Reprod Biomed Online. 2015;30(6):651-658

86. Tian Y#, Huo R, Wang H, Shi Q, Gu R*, Du S*.The development and highlighted questions of reproductive biology research. Sci Bull. 2015;60(24):2282-2287

87. Sun R#, Sun Y, Ge W, Tan H, Cheng S, Yin S, Sun X, Li L, Dyce P, Li J, Yang X, Shi Q*, Shi Q*, Shen W*.The crucial role of activin a on the formation of primordial germ cell-like cells from skin-derived stem cells in vitro. Cell Cycle. 2015;14(19):3016-3029

88. Jiang X#, Ma T#, Zhang Y, Zhang H, Yin S, Zheng W, Wang L, Wang Z, Khan M, Sheikh SW, Bukhari I, Iqbal F, Cooke HJ, Shi Q*. Specific deletion of Cdh2 in sertoli cells leads to altered meiotic progression and subfertility of mice. Biol Reprod. 2015;92(3)79

89. Hua J#, Xu B#, Yang Y, Ban R, Iqbal F, Cooke HJ, Zhang Y*, Shi Q*. Follicle Online: An integrated database of follicle assembly, development and ovulation. Database. 2015;2015:1-8

90. Gao X#, Ma W#, Nie J#, Zhang C, Zhang J, Yao G, Han J, Xu J, Hu B, Du Y, Shi Q, Yang Z*, Huang X*, Zhang Y*.A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death and Dis. 2015;6(1)e1610

91. Chu B#, Zhong L#, Dou S, Wang J, Li J, Wang M, Shi Q*, Shi Q*, Mei Y*, Wu M*.miRNA-181 regulates embryo implantation in mice through targeting leukemia inhibitory factor. J Mol Cell Biol. 2015;7(1):12-22

92. Zhang H#, Jiang X#, Zhang Y, Xu B, Hua J, Ma T, Zheng W, Sun R, Shen W, Cooke HJ, Hao Q, Qiao J, Shi Q*. MicroRNA 376a regulates follicle assembly by targeting Pcna in fetal and neonatal mouse ovaries. Reproduction. 2014;148(1):43-54

93. Yao Q#, Wang L#, Yao B#, Gao H#, Li W, Xia X, Shi Q, Cui Y*.Meiotic prophase i defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. Mol Cytogenet. 2014;7(1)45

94. Wang Z#, Yin H, Zhang Y, Feng Y, Yan Z, Jiang X, Bukhari I, Iqbal F, Cooke HJ, Shi Q*. miR-214-mediated downregulation of RNF8 induces chromosomal instability in ovarian cancer cells. Cell Cycle. 2014;13(22):3519-3528

95. Wang Z#, Yin H, Lv L, Feng Y, Chen S, Liang J, Huang Y, Jiang X, Jiang H, Bukhari I, Wu L, Cooke HJ, Shi Q*. Unrepaired DNA damage facilitates elimination of uniparental chromosomes in interspecific hybrid cells. Cell Cycle. 2014;13(8):1345-1356

96. Wang J#, Qian J#, Hu Y, Kong X, Chen H, Shi Q, Jiang L, Wu C, Zou W, Chen Y, Xu J*, Fang JY*.ArhGAP30 promotes p53 acetylation and function in colorectal cancer. Nat Commun. 2014;54735

97. Ma H*, Cooke HJ*, Shi Q*. Meiosis: Recent Progress and New Opportunities. J Genet Genomics. 2014;41(3):83-85

98. Jiang X#, Bukhari I#, Zheng W, Yin S, Wang Z, Cooke H, Shi Q*. Blood-testis barrier and spermatogenesis: Lessons from genetically-modified mice. Asian J Androl. 2014;16(4):572-580

99. Jiang H#, Wang L#, Cui Y, Xu Z, Guo T, Cheng D, Xu P, Yu W, Shi Q*. Meiotic Chromosome Behavior in a Human Male t(8;15) Carrier. J Genet Genomics. 2014;41(3):177-185

100. Zhang Y#, Zhong L, Xu B, Yang Y, Ban R, Zhu J, Cooke HJ, Hao Q, Shi Q*. SpermatogenesisOnline 1.0: A resource for spermatogenesis based on manual literature curation and genome-wide data mining. Nucleic Acids Res. 2013;41(D1):D1055-D1062

101. Zhang X#, Zhang L, Li L, Feng Y, Chen B, Ma J, Huynh E, Shi Q, De Felici M, Shen W*.Diethylhexyl phthalate exposure impairs follicular development and affects oocyte maturation in the mouse. Environ Mol Mut. 2013;54(5):354-361

102. Yang Q#, Hua J#, Wang L, Xu B, Zhang H, Ye N, Zhang Z, Yu D, Cooke HJ, Zhang Y*, Shi Q*. MicroRNA and piRNA Profiles in Normal Human Testis Detected by Next Generation Sequencing. Plos One. 2013;8(6)e66809

103. Wu J#, Liu Q, Wang X, Zheng J, Wang T, You M, Sun ZS*, Shi Q*. MirTools 2.0 for non-coding RNA discovery, profiling and functional annotation based on high-throughput sequencing. RNA Biol. 2013;10(7):1087-1092

104. Wang X#, Ying P, Diao F, Wang Q, Ye D, Jiang C, Shen N, Xu N, Chen W, Lai S, Jiang S, Miao X, Feng J, Tao W, Zhao N, Yao B, Xu Z, Sun H, Li J, Sha J, Huang X, Shi Q, Tang H, Gao X*, Li C*.Altered protein prenylation in sertoli cells is associated with adult infertility resulting from childhood mumps infection. J Exp Med. 2013;210(8):1559-1574

105. Shi Y#, Zhuang X#, Xu B, Hua J, Liao S, Shi Q, Cooke HJ*, Han C*.SYCP3-like X-linked 2 is expressed in meiotic germ cells and interacts with synaptonemal complex central element protein 2 and histone acetyltransferase TIP60. Gene. 2013;527(1):352-359

106. Pan W#, Zhou J, Liu X, Xu Y, Guo L, Yu C, Shi Q, Fan H*.Death domain-associated protein DAXX promotes ovarian cancer development and chemoresistance. J Biol Chem. 2013;288(19):13620-13630

107. Chen B#, Zhang L#, Tang J, Feng X, Feng Y, Liang G, Wang L, Feng Y, Li L, De Felici M, Shi Q, Shen W*.Recovery of functional oocytes from cultured premeiotic germ cells after kidney capsule transplantation. Stem Cells Dev. 2013;22(4):567-580

108. Zhang Y#, Xu B#, Yang Y, Ban R, Zhang H, Jiang X, Cooke HJ, Xue Y*, Shi Q*. Cpss: A computational platform for the analysis of small rna deep sequencing data. Bioinformatics. 2012;28(14):1925-1927

109. Yang C#, Shi X, Huang Y, Zhang Z, Cooke HJ, Wang M, Shi Q*. Rapid proliferation of daughter cells lacking particular chromosomes due to multipolar mitosis promotes clonal evolution in colorectal cancer cells. Cell Cycle. 2012;11(14):2650-2659

110. Pan Z#, Yang Q, Ye N, Wang L, Li J, Yu D, Cooke HJ, Shi Q*. Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males. Am J Med Genet, Part A. 2012;158 A(3):581-587

111. Lv L#, Zhang T#, Yi Q, Huang Y, Wang Z, Hou H, Zhang H, Zheng W, Hao Q, Guo Z, Cooke HJ, Shi Q*. Tetraploid cells from cytokinesis failure induce aneuploidy and spontaneous transformation of mouse ovarian surface epithelial cells. Cell Cycle. 2012;11(15):2864-2875

112. Li Q#, Geng X#, Zheng W#, Tang J#, Xu B, Shi Q*. Current understanding of ovarian aging. Sci China Life Sci. 2012;55(8):659-669

113. Huang Y#, Jiang L, Yi Q, Lv L, Wang Z, Zhao X, Zhong L, Jiang H, Rasool S, Hao Q, Guo Z, Cooke HJ, Fenech M, Shi Q*. Lagging chromosomes entrapped in micronuclei are not 'lost' by cells. Cell Res. 2012;22(5):932-935

114. Chao H#, Zhang X, Chen B, Pan B, Zhang L, Li L, Sun X, Shi Q, Shen W*.Bisphenol A exposure modifies methylation of imprinted genes in mouse oocytes via the estrogen receptor signaling pathway. Histochem Cell Biol. 2012;137(2):249-259

115. Zhang Y#, Yang Y#, Zhang H#, Jiang X#, Xu B, Xue Y, Cao Y, Zhai Q, Zhai Y, Xu M, Cooke HJ, Shi Q*. Prediction of novel pre-microRNAs with high accuracy through boosting and SVM. Bioinformatics. 2011;27(10):1436-1437

116. Yang Q#, Zhang D#, Leng M, Yang L, Zhong L, Cooke HJ, Shi Q*. Synapsis and meiotic recombination in male chinese muntjac (muntiacus reevesi). Plos One. 2011;6(4)e19255

117. Xu B#, Hua J#, Zhang Y, Jiang X, Zhang H, Ma T, Zheng W, Sun R, Shen W, Sha J, Cooke HJ, Shi Q*. Proliferating cell nuclear antigen (PCNA) regulates primordial follicle assembly by promoting apoptosis of oocytes in fetal and neonatal mouse ovaries. Plos One. 2011;6(1)e16046

118. Huang Y#, Hou H#, Yi Q, Zhang Y, Chen D, Jiang E, Xia Y, Fenech M, Shi Q*. The fate of micronucleated cells post X-irradiation detected by live cell imaging. DNA Repair. 2011;10(6):629-638

119. Huang Y#, Fenech M, Shi Q*. Micronucleus formation detected by live-cell imaging. Mutagenesis. 2011;26(1):133-138

120. Duan T#, Yang Q, Wang L, Shi Q, Yu D*.Correlation analysis between meiotic recombination frequencies and age in human spermatocyte. Yi chuan. 2011;33(7):725-730

121. Chen Q#, Shi X, Rudolph C, Yu Y, Zhang D, Zhao X, Mai S, Wang G, Schlegelberger B*, Shi Q*. Recurrent trisomy and Robertsonian translocation of chromosome 14 in murine iPS cell lines. Chromosome Res. 2011;19(7):857-868

122. Cai X*#, Li J#, Yang Q, Shi Q*. Gamma-irradiation increased meiotic crossovers in mouse spermatocytes. Mutagenesis. 2011;26(6):721-727

123. Zhang P#, Chao H, Sun X, Li L, Shi Q, Shen W*.Murine folliculogenesis in vitro is stage-specifically regulated by insulin via the Akt signaling pathway. Histochem Cell Biol. 2010;134(1):75-82

124. Sun L#, Sun Z#, Zhang P, Zhai X, Tang J, Pan Q, Shi Q, Shen W*.Effect of insulin on oogenesis from mouse fetal germ cells in a serum-free 3D culture system. Reprod Biomed Online. 2010;20(1):11-25

125. Bian M#, Fu J, Yan Y, Chen Q, Yang C, Shi Q, Jiang Q, Zhang C*.Short exposure to paclitaxel induces multipolar spindle formation and aneuploidy through promotion of acentrosomal pole assembly. Sci China Life Sci. 2010;53(11):1322-1329

126. Wang N#, Zhang P#, Guo X, Xie J, Huo R, Wang F, Chen L, Shen J, Zhou Z, Shi Q, Zhao B, Sha J*.Comparative proteome profile of immature rat ovary during primordial follicle assembly and development. Proteomics. 2009;9(13):3425-3434

127. Song Z#, Min L, Pan Q, Shi Q, Shen W*.Maternal imprinting during mouse oocyte growth in vivo and in vitro. Biochem Bioph Res Co. 2009;387(4):800-805

128. Song Y#, Chen Q, Zhang Z, Hou H, Zhang D, Shi Q*. Effects of age on segregation of the X and Y chromosomes in cultured lymphocytes from Chinese men. J Genet Genomics. 2009;36(8):467-474

129. Song L#, Li J, Liao W, Feng Y, Yu C, Hu L, Kong Q, Xu L, Zhang X, Liu W, Li M, Zhang L, Kang T, Fu L, Huang W, Xia Y, Tsao S, Li M, Band V, Band H, Shi Q, Zeng Y, Zeng M*.The polycomb group protein Bmi-1 represses the tumor suppressor PTEN and induces epithelial-mesenchymal transition in human nasopharyngeal epithelial cells. J Clin Inv. 2009;119(12):3626-3636

130. Li J#, Leng M, Ma T, Yu D, Shi H, Shi Q*. Cryopreservation has no effect on meiotic recombination and synapsis in testicular tissues. Fertil Steril. 2009;91(4 SUPPL):1404-1407

131. Leng M#, Li G, Zhong L, Hou H, Yu D, Shi Q*. Abnormal synapses and recombination in an azoospermic male carrier of a reciprocal translocation t(1;21). Fertil Steril. 2009;91(4):1293

132. Dong H#, Li L#, Song Z, Tang J, Xu B, Zhai X, Sun L, Zhang P, Li Z, Pan Q, Shi Q, Shen W*.Premeiotic fetal murine germ cells cultured in vitro form typical oocyte-like cells but do not progress through meiosis. Theriogenology. 2009;72(2):219-231

133. Rao X#, Zhang Y, Yi Q, Hou H, Xu B, Chu L, Huang Y, Zhang W, Fenech M*, Shi Q*. Multiple origins of spontaneously arising micronuclei in HeLa cells: Direct evidence from long-term live cell imaging. Mutat Res - Fundamental and Molecular Mechanisms of Mutagenesis. 2008;646(1-2):41-49

134. Yan X#, Cao L, Li Q, Wu Y, Zhang H, Saiyin H, Liu X, Zhang X, Shi Q, Yu L*.Aurora C is directly associated with Survivin and required for cytokinesis. Genes Cells. 2005;10(6):617-626

135. Shi Q#. , King RW*Chromosome nondisjunction yields tetraploid rather than aneuploid cells in human cell lines. Nature. 2005;437(7061):1038-1042

136. Shi Q#. , Spriggs E, Field LL, Rademaker A, Ko E, Barclay L, Martin RH*Absence of age effect on meiotic recombination between human X and Y chromosomes. Am J Hum Genet. 2002; 71(2):254-261

137. Martin RH*, Shi Q, Field LL.Recombination in the pseudoautosomal region in a 47,XYY male. Hum Genet. 2001 Aug;109(2):143-5

138. Shi Q#. , Spriggs E, Field LL, Ko E, Barclay L, Martin RH*Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24,XY human sperm. Am J Med Genet. 2001;99(1):34-38

139. Shi Q#. , Martin RH*Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction. 2001;121(5):655-666

140. Shi Q#. , Ko E, Barclay L, Hoang T, Rademaker A, Martin R*Cigarette smoking and aneuploidy in human sperm. Mol Reprod Dev. 2001;59(4):417-421

141. Shi Q#. , Martin RH*Spontaneous frequencies of aneuploid and diploid sperm in 10 normal Chinese men: Assessed by multicolor fluorescence in situ hybridization. Cytogenet Cell Genet. 2000;90(1-2):79-83

142. Shi Q#. , Martin RH*Aneuploidy in human sperm: A review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet. 2000;90(3-4):219-226

143. Shi Q#. , Martin RH*Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature. Am J Med Genet. 2000;93(1):40-46

144. Shi Q#. , Chen J, Adler ID*, Zhang J, Martin R, Pan S, Zhang X, Shan XIncreased nondisjunction of chromosome 21 with age in human peripheral lymphocytes. Mutat Res - Fundamental and Molecular Mechanisms of Mutagenesis. 2000;452(1):27-36

145. Shi Q#*. , Adler ID, Zhang J, Zhang X, Shan X, Martin RIncidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: Detection by fluorescence in situ hybridization on binucleated lymphocytes. Hum Genet. 2000;106(1):29-35

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