Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest.
Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest.
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早期胚胎停滞不育女性中的新纯合 PADI6 变异
DOI：
10.3389/fcell.2022.819667
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发表时间：
2022
影响因子：
5.5
通讯作者：
中科院分区：
文献类型：
--
作者：
早期胚胎停滞是指植入前胚胎发育的提前终止，是反复辅助生殖失败的主要表型之一。Padi6被证明是小鼠皮层下母体复合体（SCMC）的成员，其在卵母细胞成熟和胚胎发生中是必需的。我们和其他研究小组先前发现PADI 6的双等位基因突变导致女性不孕，表现为早期胚胎停滞。在这项研究中，我们确定了两个新的纯合子变体（p.Cys163Arg，和p.Trp475 *）的PADI 6在两个不孕症患者从一个队列的75名女性早期胚胎停滞的表型。体外表达研究表明，PADI 6表达严重下降，可能破坏SCMC的稳定性。我们的研究扩大了PADI6的突变谱，并进一步支持PADI6突变与女性不孕症之间的因果关系。
Early embryonic arrest denotes premature termination of development in preimplantation embryos, which is one of the major phenotypes of recurrent assisted reproduction failure. Padi6 is proven to be a member of the subcortical maternal complex (SCMC) in mice, which is essential in oocyte maturation and embryogenesis. We and other groups previously found that biallelic mutations in PADI6 caused female infertility manifesting as early embryonic arrest. In this study, we identified two novel homozygous variants (p.Cys163Arg, and p. Trp475*) of PADI6 in two infertile patients from a cohort of 75 females with the phenotype of early embryonic arrest. An in vitro expression study indicated severe decrease of PADI6, which might destruct the stability of SCMC. Our study expands the mutational spectrum of PADI6 and further supports the causality between PADI6 mutations and female infertility.
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影响因子：
64.8
作者：
Jumper J;Evans R;Pritzel A;Green T;Figurnov M;Ronneberger O;Tunyasuvunakool K;Bates R;Žídek A;Potapenko A;Bridgland A;Meyer C;Kohl SAA;Ballard AJ;Cowie A;Romera-Paredes B;Nikolov S;Jain R;Adler J;Back T;Petersen S;Reiman D;Clancy E;Zielinski M;Steinegger M;Pacholska M;Berghammer T;Bodenstein S;Silver D;Vinyals O;Senior AW;Kavukcuoglu K;Kohli P;Hassabis D
通讯作者：
Hassabis D
影响因子：
4
作者：
Mu, Jian;Wang, Wenjing;Wang, Lei
通讯作者：
Wang, Lei
影响因子：
4
作者：
Wang, Xueqian;Song, Di;Wang, Lei
通讯作者：
Wang, Lei
影响因子：
14.9
作者：
Seelow D;Schuelke M;Hildebrandt F;Nürnberg P
通讯作者：
Nürnberg P
DOI：
10.1242/dev.016329
发表时间：
2008-08
期刊：
Development (Cambridge, England)
影响因子：
--
作者：
Yurttas P;Vitale AM;Fitzhenry RJ;Cohen-Gould L;Wu W;Gossen JA;Coonrod SA
通讯作者：
Coonrod SA