Du J - Search Results

1

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.

Wang W, Tu C, Nie H, Meng L, Li Y, Yuan S, Zhang Q, Du J, Wang J, Gong F, Fan L, Lu GX, Lin G, Tan YQ. Wang W, et al. Among authors: du j. J Med Genet. 2019 Nov;56(11):750-757. doi: 10.1136/jmedgenet-2019-106031. Epub 2019 Aug 14. J Med Genet. 2019. PMID: 31413122 Free PMC article.

2

DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.

He WB, Tu CF, Liu Q, Meng LL, Yuan SM, Luo AX, He FS, Shen J, Li W, Du J, Zhong CG, Lu GX, Lin G, Fan LQ, Tan YQ. He WB, et al. Among authors: du j. J Med Genet. 2018 Mar;55(3):198-204. doi: 10.1136/jmedgenet-2017-104992. Epub 2018 Jan 13. J Med Genet. 2018. PMID: 29331980

3

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility.

Dai C, Hu L, Gong F, Tan Y, Cai S, Zhang S, Dai J, Lu C, Chen J, Chen Y, Lu G, Du J, Lin G. Dai C, et al. Among authors: du j. Genet Med. 2019 Feb;21(2):431-440. doi: 10.1038/s41436-018-0064-y. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895852 Free article.

4

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.

Tan YQ, Tu C, Meng L, Yuan S, Sjaarda C, Luo A, Du J, Li W, Gong F, Zhong C, Deng HX, Lu G, Liang P, Lin G. Tan YQ, et al. Among authors: du j. Genet Med. 2019 May;21(5):1209-1217. doi: 10.1038/gim.2017.130. Epub 2017 Aug 24. Genet Med. 2019. PMID: 31048812 Free article.

5

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.

Tu C, Nie H, Meng L, Yuan S, He W, Luo A, Li H, Li W, Du J, Lu G, Lin G, Tan YQ. Tu C, et al. Among authors: du j. Sci Rep. 2019 Nov 1;9(1):15864. doi: 10.1038/s41598-019-52436-7. Sci Rep. 2019. PMID: 31676830 Free PMC article. Clinical Trial.

6

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.

Tu C, Nie H, Meng L, Wang W, Li H, Yuan S, Cheng D, He W, Liu G, Du J, Gong F, Lu G, Lin G, Zhang Q, Tan YQ. Tu C, et al. Among authors: du j. Hum Genet. 2020 Feb;139(2):257-271. doi: 10.1007/s00439-020-02110-0. Epub 2020 Jan 16. Hum Genet. 2020. PMID: 31942643

7

An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family.

Tu C, Wang Y, Nie H, Meng L, Wang W, Li Y, Li D, Zhang H, Lu G, Lin G, Tan YQ, Du J. Tu C, et al. Among authors: du j. Clin Genet. 2020 May;97(5):741-746. doi: 10.1111/cge.13712. Epub 2020 Feb 10. Clin Genet. 2020. PMID: 32017041

8

A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia.

Tu C, Meng L, Nie H, Yuan S, Wang W, Du J, Lu G, Lin G, Tan YQ. Tu C, et al. Among authors: du j. Fertil Steril. 2020 Mar;113(3):561-568. doi: 10.1016/j.fertnstert.2019.10.029. Epub 2020 Feb 25. Fertil Steril. 2020. PMID: 32111475 Free article.

9

Homozygous variants in SYCP2L cause premature ovarian insufficiency.

He WB, Tan C, Zhang YX, Meng LL, Gong F, Lu GX, Lin G, Du J, Tan YQ. He WB, et al. Among authors: du j. J Med Genet. 2021 Mar;58(3):168-172. doi: 10.1136/jmedgenet-2019-106789. Epub 2020 Apr 17. J Med Genet. 2021. PMID: 32303603 Free PMC article.

10

A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans.

Li Y, Wang WL, Tu CF, Meng LL, Hu TY, Du J, Lin G, Nie HC, Tan YQ. Li Y, et al. Among authors: du j. Asian J Androl. 2021 Mar-Apr;23(2):197-204. doi: 10.4103/aja.aja_56_20. Asian J Androl. 2021. PMID: 33037173 Free PMC article.

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