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| 1 | High-Efficiency Genome Editing in Arabidopsis Using YAO Promoter-Driven CRISPR/Cas9 System显示文摘 | Yan, Liuhua Wei, Shaowei Wu, Yaorong Hu, Ruolan Li, Hongju Yang, Weicai Xie, Qi | 2015 | Molecular Plant2015，8，12： | 50 |
| 2 | Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China显示文摘Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China. | Chanjuan Hao Ruolan Guo Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng Jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang Xiaoping Ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian Jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li | 2022 | Journal of Genetics and Genomics2022，49，1： | 7 |
| 3 | Whole-exome sequencing reveals twovariants in thegene in two Chinese patients with left ventricular non-compaction cardiomyopathy显示文摘Importance:Pathogenic variants in theRBM20 gene are associated with aggressive dilated cardiomyopathy(DCM).Recently,RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy(LVNC).Thus far,only five families with LVNC have been reported to carry variants inRBM20.It remains unknown whether the variants inRBM20 associated with DCM can also cause LVNC.Objective:To elucidate the causativeRBM20 variant in two unrelated patients with both LVNC and DCM,and to identify the clinical characteristics associated with variants inRBM20.Methods:Trio whole-exome sequencing(WES)was performed.Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics(ACMG).Results:We identified two distinctde novo variants inRBM20(one per patient)in these two patients with LVNC.Both variants have been reported in patients with DCM,without the LVNC phenotype.Patient 1 was an 11-year-old girl who had DCM,LVNC,and heart failure;the ratio of noncompacted-to-compacted myocardium was 2.7:1.Ade novo heterozygous variant c.1907G>A(p.Arg636His)in exon 9 was identified in this patient.Patient 2 was a 13-year-old boy who had clinical phenotypes identical to those of Patient 1;the ratio of noncompacted-to-compacted myocardium was 3.2:1 in this patient.WES revealed ade novo heterozygous variant c.1909A>G(p.Ser637Gly)in exon 9.Both variants were previously characterized as pathogenic,and our study classified them as pathogenic variants based on the ACMG guidelines.Interpretation:We found that two patients with LVNC had variants inRBM20.Our results extended the clinical spectrum of the twoRBM20 variants and illustrated that the same variant inRBM20 can cause DCM,with or without the LVNC phenotype. | Qiqing Sun Jun Guo Chanjuan Hao Ruolan Guo Xuyun Hu Yuanying Chen Weili Yang Wei Li Yingjun Feng | 2020 | Pediatric Investigation2020，4，1： | 2 |
| 4 | SR-BI expression regulates the gastric cancer tumor immune microenvironment and is associated with poor prognosis显示文摘Aim:Scavenger receptor class B,type I(SR-BI)is an integral plasma membrane protein that has been reported to be overexpressed in various malignancies,such as renal cancer,breast cancer,and prostate cancer,and is an independent prognostic factor.However,the clinical value and expression of SR-BI in GC are unknown.Our research aimed to explore the role of SR-BI in combination with immune markers as a diagnostic and prognostic marker for gastric cancer(GC).Methods:GC tissues,paracancerous tissues,and clinicopathological data of 149 patients were collected.The expression level of SR-BI,Tumor-infiltrating lymphocytes(TILs),and PD-L1 were evaluated by immunohistochemistry(IHC).The associations of the SR-BI staining intensity with clinicopathological features and immune markers were determined by the chi-square test.Univariate and multivariate COX regression analyses were used to evaluate independent prognostic factors.Kaplan–Meier analyses were performed to plot the survival curve.Results:Our results indicated that SR-BI was expressed at higher levels in tumor tissues than in adjacent paracancerous tissues(p<0.001),and patients with high levels of SR-BI expression had a worse prognosis.Univariate and multivariate analyses revealed that high SR-BI expression was an independent factor for poor prognosis.The chi-square test determined that the expression of SR-BI was negatively correlated with CD4+T cells and CD8+T cells(CD4+T cells,p=0.013;CD8+T cells,p=0.021),and positively correlated with PD-L1(p=0.022).Finally,survival analysis revealed that CD4+T cells were associated with the prognosis of GC patients(p=0.019),and the combined survival analysis of SR-BI and CD4+T cells was also statistically significant(p=0.030).Conclusion:SR-BI is highly expressed in GC tissue and associated with poor prognosis.Moreover,SR-BI can also regulate the GC tumor immune microenvironment. | YI WANG SHANGQI CHEN PENGCHENG YU ZHEHAN BAO CAN HU YUHANG XIA RUOLAN ZHANG LI YUAN HUA RUAN JIANCHENG SUN | 2023 | BIOCELL2023，47，5： | 0 |
| 5 | A stage-specific protein factor binding to a CACCC motif in both human β-globin gene promoter and 5'-HS2region显示文摘The DNasel hypersensitive site 2 (HS2) of human β-globin locus control region (LCR) is required fOr the high level expression of human d-globin genes. In the present study, a stage-specific protein factor (LPF-β) was identified in the nuclear extract prepared from mouse fetal liver at d 18 of gestation, which could bind to the HS2 region of humanβ-globin LCRt We also found that the shift band of LPF-βfactor could be competed by humanβ-globin promoter. However, it couldn’t be competed by human E-globin promoter or by human Aβ-globin promoter. Furthermore, our data demonstrated that the binding-sequence of LPF-d factor is 5’CACACCCTA 3’,which is located at the HS2 region ofβ-LCR (from -10845 to -10853 bp) and humanβ-globin promoter (from -92 to -84 bp). We speculated that these regions containing the CACCC box in both the humallβ-globin promoter and HS2 might function as stage selector elements in the regulation of humanβd-globin switching and the LPF-βfactor might be a stage-specific protein factor involved in the regulation of humanβ-globin gene expression. | SUN TONG- YADI CHEN YULONG HU CHANGHONGDAI RUOLAN QIAN.(Shanghai Institute of Cell Biology, Academia Sinica,Shanghai 200031- China) | 1994 | Cell Research1994，4，2： | 0 |
| 6 | Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing:Implications for adjustment of BCG vaccination timing in China显示文摘The World Health Organization(WHO)recommends neonatal Bacillus Calmette-Guerin(BCG)vaccination in countries with a high prevalence of tuberculosis(TB),which has been practiced in more than 150 countries(WHO,2004).The prevalence of TB is a serious condition in China,ranking as the second in the high epidemic countries globally(WHO,2018).China initiated a neonatal BCG vaccination program in 1986 and reached an average vaccination rate of 99%in 2016 with a great success in preventing the incidence of TB(WHO,2018). | Gang Liu Haijuan Xiao Linlin Liu Lingyun Guo Ruolan Guo Xuyun Hu Chanjuan Hao Jingang Gui Weiwei Jiao Fang Xu Adong Shen Wei Li | 2020 | Journal of Genetics and Genomics2020，47，4： | 0 |
| 7 | Investigation of chromatin folding patterns by atomic force microscopy显示文摘The chromatin folding patterns in air and liquid were studied by atomicforce microscopy (AFM). A gentle water-air interface method was adopted to spreadchromatin from interphase nucleus of chicken erythrocyte. The chromatin was ah-sorbed on APS-Inica surfaCe and studied with AFM. Beads-on-a-string were observedand many higher-order structures such as superbeads with dimensions 40-60urn indiameter and 4-7 urn in height were found to string together to make chromatin fibers.When sample spreading and absorbing time were shortened, higher-order chromatinfibers with 60-120 urn in width were observed in air as well as under water environment. These chromatin structures may reflect chromatin folding patterns in the livingcells. | ZHANG Yi OUYANG Zhenqian HU Jun CHEN Shengfu LI Minqian(Shanghai institute of Nuclear Research, the Chinese Academy of Sciences, Shanghai 201800)ZHAO Hut, QIAN Ruolan(Shanghai institute of Cell Biology, the Chinese Academy of Sciences, Shanghai 200031 | 1999 | Nuclear Science and Techniques1999，10，2： | 0 |
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