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Homozygous variants in PANX1 cause human oocyte death and female infertility.
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. Wang W, et al. Among authors: he l. Eur J Hum Genet. 2021 Sep;29(9):1396-1404. doi: 10.1038/s41431-020-00807-4. Epub 2021 Jan 25. Eur J Hum Genet. 2021. PMID: 33495594
Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations.
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. Zhao L, et al. Among authors: he l. J Assist Reprod Genet. 2020 Aug;37(8):1837-1847. doi: 10.1007/s10815-020-01830-6. Epub 2020 Jun 10. J Assist Reprod Genet. 2020. PMID: 32524331 Free PMC article.
The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population.
Teng JL, Chen X, Chen J, Zeng T, He L, Li M, Luo CN, Liu S, Ding TT, Yimaiti K, Li X, Ding Y, Cheng XB, Zhou J, Ye JN, Ji J, Su YT, Shi H, Sun Y, Gao C, Hu QY, Chi HH, Yuan X, Zhou ZC, Wang D, Wang K, Feng D, Li C, Sun Y, Niu Y, Xu X, Chen LJ, Xu J, Wu LJ, Zhou Z, Pan D, Niu H, Yang CD, Yongyong Shi, Li Z, Liu HL. Teng JL, et al. Among authors: he l. J Autoimmun. 2021 Jan;116:102562. doi: 10.1016/j.jaut.2020.102562. Epub 2020 Nov 6. J Autoimmun. 2021. PMID: 33168359
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