自引率: 5.5%
被引量: 5204
通过率: 暂无数据
审稿周期: 2
版面费用: 暂无数据
国人发稿量: 5
投稿须知/期刊简介:
Information at the level of gene expression and protein function is increasingly important in the understanding of human reproduction. Molecular Human Reproduction publishes articles on the molecular aspects of reproductive physiology and pathology endocrinology andrology gonad function gametogenesis fertilization embryo development implantation pregnancy contraception oncology and infectious disease. The diagnosis and investigation of genetic disease is also covered in the scope of Molecular Human Reproduction . Published papers include peer-reviewed original research reports review articles and debates on topical areas. Molecular Human Reproduction began in 1995. It is published on behalf of the European Society of Human Reproduction and Embryology.
期刊描述简介:
Information at the level of gene expression and protein function is increasingly important in the understanding of human reproduction. Molecular Human Reproduction publishes articles on the molecular aspects of reproductive physiology and pathology endocrinology andrology gonad function gametogenesis fertilization embryo development implantation pregnancy contraception oncology and infectious disease. The diagnosis and investigation of genetic disease is also covered in the scope of Molecular Human Reproduction . Published papers include peer-reviewed original research reports review articles and debates on topical areas. Molecular Human Reproduction began in 1995. It is published on behalf of the European Society of Human Reproduction and Embryology.
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Sperm-carried IGF2: towards the discovery of a spark contributing to embryo growth and development.
被引量：- 发表：2024
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Adjusting methylation levels with nucleus proportions highlights functional significance of differentially methylated cytosines associated with pre-eclampsia.
Studies on DNA methylation alterations associated with pre-eclampsia (PE) have improved our understanding of the mechanisms underlying this disorder. However, differentially methylated cytosines (DMCs) have not been adjusted for cell-type heterogeneity, hampering the identification of alterations that drive disease risk. Using a reference-based, cell-type deconvolution approach, we estimated the nuclear proportions of 335 placental samples based on DNA methylation data. We found that the nuclei of total trophoblast lineages accounted for more than 80% of the placental samples, with a significant increase in PE placentas. The nuclear proportions of stromal and Hofbauer cells decreased in PE placentas. Our nuclear proportion estimation reflected previous histological knowledge on the changes in cell type proportions in PE placentas. We corrected 2125 DMCs associated with early-onset PE for cell-type heterogeneity by adjusting for the nuclear proportions and observed a notable reduction in the association signals, with 145 probes not reaching epigenome-wide significance. After correction, the top 200 significant DMCs were strongly enriched in active enhancers in trophoblast lineages, whereas 145 non-significant probes were enriched in regions with a quiescent state of chromatin. Our results suggest that future epigenetic studies of PE should focus on functional regulatory sequences.
被引量：- 发表：2024
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Variants in NLRP2 and ZFP36L2, non-core components of the human subcortical maternal complex, cause female infertility with embryonic development arrest.
The subcortical maternal complex (SCMC), which is vital in oocyte maturation and embryogenesis, consists of core proteins (NLRP5, TLE6, OOEP), non-core proteins (PADI6, KHDC3L, NLRP2, NLRP7), and other unknown proteins that are encoded by maternal effect genes. Some variants of SCMC genes have been linked to female infertility characterized by embryonic development arrest. However, so far, the candidate non-core SCMC components associated with embryonic development need further exploration and the pathogenic variants that have been identified are still limited. In this study, we discovered two novel variants [p.(Ala131Val) and p.(Met326Val)] of NLRP2 in patients with primary infertility displaying embryonic development arrest from large families. In vitro studies using 293T cells and mouse oocytes, respectively, showed that these variants significantly decreased protein expression and caused the phenotype of embryonic development arrest. Additionally, we combined the 'DevOmics' database with the whole exome sequence data of our cohort and screened out a new candidate non-core SCMC gene ZFP36L2. Its variants [p.(Ala241Pro) and p.(Pro291dup)] were found to be responsible for embryonic development arrest. Co-immunoprecipitation experiments in 293T cells, used to demonstrate the interaction between proteins, verified that ZFP36L2 is one of the human SCMC components, and microinjection of ZFP36L2 complementary RNA variants into mouse oocytes affected embryonic development. Furthermore, the ZFP36L2 variants were associated with disrupted stability of its target mRNAs, which resulted in aberrant H3K4me3 and H3K9me3 levels. These disruptions decreased oocyte quality and further developmental potential. Overall, this is the first report of ZFP36L2 as a non-core component of the human SCMC and we found four novel pathogenic variants in the NLRP2 and ZFP36L2 genes in 4 of 161 patients that caused human embryonic development arrest. These findings contribute to the genetic diagnosis of female infertility and provide new insights into the physiological function of SCMC in female reproduction.
被引量：- 发表：2024
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Reply 2: Correlation between high FSH levels and increased risk of aneuploidy: the origin of the hypothesis.
被引量：- 发表：2024
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Correlation between high FSH levels and increased risk of aneuploidy: the origin of the hypothesis.
被引量：- 发表：2024
