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| 1 | Association of assisted reproductive technology, germline de novo mutations and congenital heart defects in a prospective birth cohort study显示文摘Emerging evidence suggests that children conceived through assisted reproductive technology(ART)have a higher risk of congenital heart defects(CHDs)even when there is no family history.De novo mutation(DNM)is a well-known cause of sporadic congenital diseases;however,whether ART procedures increase the number of germline DNM(gDNM)has not yet been well studied.Here,we performed whole-genome sequencing of 1137 individuals from 160 families conceived through ART and 205 families conceived spontaneously.Children conceived via ART carried 4.59 more gDNMs than children conceived spontaneously,including 332 paternal and 1.26 maternal DNMs,after correcting for parental age at conception,cigarette smoking,alcohol drinking,and exercise behaviors.Paternal DNMs in offspring conceived via ART are characterized by C>T substitutions at CpG sites,which potentially affect protein-coding genes and are significantly associated with the increased risk of CHD.In addition,the accumulation of non-coding functional mutations was independently associated with CHD and 87.9% of the mutations were originated from the father.Among ART offspring,infertility of the father was associated with elevated paternal DNMs;usage of both recombinant and urinary follicle-stimulating hormone and high-dosage human chorionic gonadotropin trigger was associated with an increase of maternal DNMs.In sum,the increased gDNMs in offspring conceived by ART were primarily originated from fathers,indicating that ART itself may not be a major reason for the accumulation of gDNMs.Our findings emphasize the importance of evaluating the germline status of the fathers in families with the use of ART. | Cheng Wang Hong Lv Xiufeng Ling Hong Li Feiyang Diao Juncheng Dai Jiangbo Du Ting Chen Qi Xi Yang Zhao Kun Zhou Bo Xu Xiumei Han Xiaoyu Liu Meijuan Peng Congcong Chen Shiyao Tao Lei Huang Cong Liu Mingyang Wen Yangqian Jiang Tao Jiang Chuncheng Lu Wei Wu Di Wu Minjian Chen Yuan Lin Xuejiang Guo Ran Huo Jiayin Liu Hongxia Ma Guangfu Jin Yankai Xia Jiahao Sha Hongbing Shen Zhibin Hu | 2021 | Cell Research2021，31，8： | 2 |
| 2 | 本校近期发表IF≥4.0的SCI论文摘要(英文)——Relation between Urinary Metabolites of Polycyclic Aromatic Hydrocarbons and Human Semen Quality显示文摘 | Xia Yankai Zhu Pengfei Wang Shoulin Gu Aihua Wang Li Lu Chuncheng Song Ling Wang Xinru Han Yan Fu Guangbo | 2009 | 南京医科大学学报(自然科学版)2009，29，9： | 1 |
| 3 | The effects of simvastatin on hippocampal caspase-3 and Bcl-2 expressionfollowing kainate-induced seizures in rats显示文摘 | Jiahang Sun Chuncheng Xie Wei Liu Dunyue Lu Weidong Qiao Qi Huang Zhihui Huo Hong Shen Zhiguo Lin | 2012 | International Journal of Molecular Medicine2012，，4： | 1 |
| 4 | Association between exposure to particulate matter during pregnancy and birthweight:a systematic review and a metaanalysis of birth cohort studies显示文摘Studies of the associations between maternal exposure to particulate matter(PM) and risk of adverse effects on fetal growth are inconsistent and inconclusive. This question can be well answered by carefully designed birth cohort studies; however, so far the evidence from such studies has not come to the same conclusion. We sought to evaluate the association between maternal exposures to PM and low birthweight(LBW) enrolling 14 studies from 11 centers,and to explore the influence of trimester and exposure assessment methods on between-center heterogeneity in this association. Data were derived from PubMed, Embase, Google Scholar, CNKI, and WanFang database, references from relevant articles, and results from published studies until March 2017. Using a random-effects meta-analysis, we combined the coefficient and odds ratios(OR) of individual studies conducted among 14 birth cohort studies.Random-effect meta-analysis results suggested that a 17% and 6% increase in risk of LBW was relevant to a 10 μg/m^3 rise in PM_(2.5) and PM_(10) exposure concentrations at the 3 rd trimester(pooled odds ratios(OR), 1.17 and 1.06; 95%confidence interval(CI), 0.94-1.46 and 0.97-1.15, respectively), but the null value was included in our 95% CI. Our results showed that exposure to PM_(2.5) and PM_(10) during pregnancy has a positive relevance to LBW based on birth cohort studies. However, neither reached formal statistical significance. Negative impacts on outcomes of birth is implied by maternal exposure to PM. Further mechanistic researches are needed to explain the connection between PM pollution and LBW. | Yinwen Ji Fei Song Bo Xu Yining Zhu Chuncheng Lu Yankai Xia | 2019 | The Journal of Biomedical Research2019，33，1： | 0 |
| 5 | Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice显示文摘Globally,infertility is a serious health problem affecting about 15%of reproductive age couples according to the data reported by the World Health Organization.Non-obstructive azoospermia(NOA)is acknowledged as one of the most serious phenotypes of male infertility.Approximately 1%of the male population and 10%of infertile men were affected by NOA(Xie et al.,2022).As reported,meiotic arrest is one of the major etiologies leading to the NOA. | Yan Zhang Xuzhao Huang Qiaoqiao Xu Mei Yu Mingxue Shu Shiling Shan Yun Fan Shiqi Li Chengzhe Tao Ying Zhao Juan Ji Yufeng Qin Chuncheng Lu Yankai Xia Feng Zhang | 2023 | Journal of Genetics and Genomics2023，50，8： | 0 |
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