A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency

机译：Plcz1的纯合无意义突变导致卵母细胞活化缺乏的男性不孕症

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Genomic PCR primers used to amplify PAWP exons for Sanger sequencing

机译：用于扩增PAWP外显子的基因组PCR引物用于Sanger测序

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期刊名称 Journal of Assisted Reproduction and Genetics
作者
Fengsong Wang; Jingjing Zhang; Shuai Kong; Chanjuan Li; Zhiguo Zhang; Xiaojin He; Huan Wu; Dongdong Tang; Xiaomin Zha; Qing Tan; Zongliu Duan; Yunxia Cao; Fuxi Zhu;
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作者单位

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年(卷),期 2020(37),4
年度 2020
页码 821–828
总页数 8
原文格式 PDF
正文语种
中图分类遗传学;妇产科学;
关键词

机译：男性不孕症;卵母细胞激活;精子;受精机;PLCZ1;
入库时间 2022-08-21 12:11:51

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专利

1. A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency [J] . Wang Fengsong, Zhang Jingjing, Kong Shuai, Journal of assisted reproduction and genetics . 2020,第4期

机译：PLCZ1的纯合无义突变导致卵母细胞活化缺乏的男性不孕症
2. Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP [J] . Escoffier Jessica, Lee Hoi Chang, Yassine Sandra, Human Molecular Genetics . 2016,第5期

机译：PLCZ1的纯合突变导致缺陷的人类卵母细胞激活和不育，这不能由WW结合蛋白PAWP挽救
3. The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation [J] . Journal of international management . 2020,第2期

机译：PLCZ1中的新突变鉴定负责人类施肥衰竭的人工卵母细胞活化的治疗干预措施
4. Pseudo-Homozygous APC Resistance Due to Coinheritance of Heterozygous Factor V - R506Q and Type I Deficiency Associated with Thrombosis [C] . A. Pavlova, R. Loreth, D. Delev, Hemophilia Symposium . 2008

机译：由于杂合因子V - R506Q的辅导引起的假纯合的APC抗性，I型血栓形成相关的I型缺陷
5. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
6. Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP [O] . Jessica Escoffier, Hoi Chang Lee, Sandra Yassine, -1

机译：PLCZ1的纯合突变导致缺陷的人类卵母细胞激活和不育这不能由WW结合蛋白PAWP挽救
7. Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency [O] . Chan, Li F, Metherell, Louise A, Krude, Heiko, 2009

机译：家族性糖皮质激素缺乏症（FGD）儿童的ACTH受体纯合性无意义和移码突变与长期的盐皮质激素缺乏症无关

A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency

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