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| 1 | Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women显示文摘Cell-free DNA(cfDNA) testing for common fetal trisomies(T21, T18, T13) is highly effective. However, the usefulness of cfDNA testing in detecting other chromosomal abnormalities is unclear. We evaluated the performance of cfDNA testing for genome-wide abnormalities, and analyzed the incremental yield by reporting extra abnormalities. We performed genome-wide cfDNA testing in 15,626 consecutive pregnancies prospectively enrolled in this study. cfDNA testing results were reported and counseling was given depending on the presence of extra chromosomal abnormalities. cfDNA testing identified 190 cases(1.2%)of chromosomal abnormalities including 100 common trisomies and 90 additional abnormalities. By expanding the cfDNA reporting range to genome-wide abnormalities, the false positive rate increased to 0.39%(P<0.001) and positive predictive value(PPV) was reduced to 65.58%(P=0.42). However, the detection yield increased from 0.44% to 0.65%(P=0.014), and cfDNA testing detected 38.61%(39/101) additional abnormalities with no ultrasound and biochemical screening findings. cfDNA testing outperformed biochemical screening by showing 60 times higher true positive rate and fewer false negative results.Genome-wide cfDNA testing significantly increased the diagnostic yield by detecting extra abnormalities, especially those without diagnostic indications. Genome-wide cfDNA testing has fewer false positive and false negative results compared with biochemical screening. | Hong Yao Ya Gao Jia Zhao Rong Zhang Huixin Xu Huamei Hu Yanmei Luo Yuying Yuan Meili Fu Hongyun Zhang Hui Jiang Wei Wang Huanming Yang Jian Wang Zhiqing Liang Fang Chen | 2019 | Science China(Life Sciences)2019，62，2： | 4 |
| 2 | Cartilage oligomeric matrix protein is an endogenous β-arrestin-2-selective allosteric modulator of AT1 receptor counteracting vascular injury显示文摘Compelling evidence has revealed that biased activation of G protein-coupled receptor(GPCR)signaling,including angiotensin II(AngII)receptor type 1(AT1)signaling,plays pivotal roles in vascular homeostasis and injury,but whether a clinically relevant endogenous biased antagonism of AT1 signaling exists under physiological and pathophysiological conditions has not been clearly elucidated.Here,we show that an extracellular matrix protein,cartilage oligomeric matrix protein(COMP),acts as an endogenous allosteric biased modulator of the AT1 receptor and its deficiency is clinically associated with abdominal aortic aneurysm(AAA)development.COMP directly interacts with the extracellular N-terminus of the AT1 via its EGF domain and inhibits AT1-β-arrestin-2 signaling,but not Gq or Gi signaling,in a selective manner through allosteric regulation of AT1 intracellular conformational states.COMP deficiency results in activation of AT1a-β-arrestin-2 signaling and subsequent exclusive AAA formation in response to AngII infusion.AAAs in COMP–/–or ApoE–/–mice are rescued by AT1a orβ-arrestin-2 deficiency,or the application of a peptidomimetic mimicking the AT1-binding motif of COMP.Explorations of the endogenous biased antagonism of AT1 receptor or other GPCRs may reveal novel therapeutic strategies for cardiovascular diseases. | Yi Fu Yaqian Huang Zhao Yang Yufei Chen Jingang Zheng Chenfeng Mao Zhiqing Li Zhixin Liu Bing Yu Tuoyi Li Meili Wang Chanjuan Xu Yiwei Zhou Guizhen Zhao Yiting Jia Wei Guo Xin Jia Tao Zhang Li Li Ziyi Liu Shengchao Guo Mingliang Ma Heng Zhang Bo Liu Junbao Du Wengong Wang Chaoshu Tang Pei Gao Qingbo Xu Xian Wang Jianfeng Liu Jinpeng Sun Wei Kong | 2021 | Cell Research2021，31，7： | 2 |
| 3 | Cypermethrin exposure during puberty induces oxidative stress and endocrine disruption in male mice显示文摘 | Yuanxiang Jin Linggang Wang Meili Ruan Jingwen Liu Yuefeng Yang Cheng Zhou Bin Xu Zhengwei Fu | 2011 | Chemosphere2011，，1： | 1 |
| 4 | New Insights into Nested Long Terminal Repeat Retrotransposons in Brassica Species显示文摘长终端重复(LTR ) retrotransposons, transposons 的最前的类型之一,不断地改变或修改并且通过戏剧的增长的爆炸重新组织染色体基因功能。许多 LTR-TEs 优先地在另外的 LTR-TEs,而是原因和这些嵌套的 LTR-TEs 的进化意义以内插入很好没被理解。在这研究,包含 2020 个细菌的人工的染色体(用绳子拖的平底渡船) 的 Brassica 顺序的 1.52Gb 的一个总数被扫描,并且六个细菌的人工的染色体(用绳子拖的平底渡船) 与极其嵌套的 LTR-TEs 克隆(LTR-TEs 密度:7.24/kb ) 为进一步的分析被选择。在六条用绳子拖的平底渡船中的四个的 LTR-TEs 的多数被发现从在 BAC 区域以内发源的 retrotransposons 的快速的增长被发源,与仅仅从从在用绳子拖的平底渡船区域外面的 retrotransposons 的增长和插入发源的一些 LTR-TEs 近似 523Mya。LTR-TEs 最好也插入了到 TA 富有的重复区域。由 Genescan 的基因预言在全部的用绳子拖的平底渡船序列的 0.84Mb 识别了 207 基因。仅仅一些基因(3/207 ) 能被匹配到 Brassica 表示顺序标签(EST ) 数据库,显示大多数基因在 retrotransposon 以后是不活跃的插入。六条用绳子拖的平底渡船中的五个是通常认为地 centromeric。因此,在着丝点区域嵌套 LTR-TEs 很快被复制,反复插入了,并且压制基因的活动并且改组的行为 centromeric 序列的结构。我们的结果建议 LTR-TEs 爆炸了并且在本地规模上增殖创造嵌套的 LTR-TE 区域,和那这些嵌套的 LTR-TEs 戏在着丝点的形成的一个角色。 | Lijuan Wei Meili Xiaoa Zeshan An Bi Ma Annaliese S. Mason Wei Qian Jiana Li Donghui Fu | 2013 | Molecular Plant2013，6，2： | 0 |
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