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The genomic and epigenomic landscape of iridocorneal endothelial syndrome
《Genes & Diseases》2025年第3期523-532,共10页Yaoming Liu Gen Li Jiaxuan Jiang Sujie Fan Lan Lu Ting Wang Guigang Li Wenzong Zhou Xuequn Liu Yingjie Li Hong Sun Liang Liang Yuhong Tang Yang Chen Jianjun Gu Fei Li Xiuli Fang Tao Sun Aiguo Lv Yayi Wang Peiyuan Wang Tao Wen Jiayu Deng Yuhong Liu Mingying Lai Jingni Yu Danyan Liu Hua Wang Meizhu Chen Li Li Xiaodan Huang Jingming Shi Xu Zhang Kang Zhang Lingyi Liang Xiulan Zhang 
supported by the National Key Research and Development Program of China(No.2022YFC2502800);the National Natural Science Foundation of China(No.82070955,32000537).
Iridocorneal endothelial (ICE) syndrome is a rare, irreversibly blinding eye diseasewith an unknown etiology. Understanding its genomic and epigenomic landscape could aid indeveloping etiology-based therapies. In this...
关键词：Copy number variance DNA methylation ETIOLOGY Iridocorneal endothelial syndrome Whole-genome sequencing 
Cancer phylogenetic inference using copy number alterations detected from DNA sequencing data
《Cancer Pathogenesis and Therapy》2025年第1期16-29,共14页Bingxin Lu 
Cancer is an evolutionary process involving the accumulation of diverse somatic mutations and clonal evolution over time.Phylogenetic inference from samples obtained from an individual patient offers a powerful approa...
关键词：Clonal evolution Phylogenetic inference Somatic mutation Copy numberchange Chromosomal instability 
Revisiting soil fungal biomarkers and conversion factors:Interspecific variability in phospholipid fatty acids,ergosterol and rDNA copy numbers
《Soil Ecology Letters》2024年第4期327-343,共17页Tessa Camenzind Heike Haslwimmer Matthias C.Rillig Liliane Ruess Damien R.Finn Christoph C.Tebbe Stefan Hempel Sven Marhan 
funding by the Deutsche Forschungsgemeinschaft(DFG,grant number 465123751,SPP2322 SoilSystems);supported by DFG grant HE 6183/5-1 and SM by MA4436/1-5.
Refined conversion factors for soil fungal biomarkers are proposed.High interspecific variability is present in all fungal biomarkers.A modeling approach supports the validity of biomarker estimates in diverse soils.I...
关键词：soil fungal biomarkers biomarker conversion factors saprobic fungi ITS copy numbers ERGOSTEROL phospholipid fatty acids 
Facilitating stable gene integration expression and copy number amplification in Bacillus subtilis through a reversible homologous recombination switch
《Synthetic and Systems Biotechnology》2024年第3期577-585,共9页Haoyu Guo Rongzhen Tian Yaokang Wu Xueqin Lv Jianghua Li Long Liu Guocheng Du Jian Chen Yanfeng Liu 
supported by the National Key Research and Development Program of China(2020YFA0908300);the National Natural Science Foundation of China(32222069,32172349);the Foundation for Innovative Research Groups of the National Natural Science Foundation of China(32021005);the Natural Science Foundation of Jiangsu Province(BK20202002).
Strengthening the expression level of integrated genes on the genome is crucial for consistently expressing key enzymes in microbial cell factories for efficient bioproduction in synthetic biology.In comparison to pla...
关键词：Bacillus subtilis Stabilized gene amplification system Homologous recombination RECA 
Next‑Generation Sequencing‑Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number Variations
《Phenomics》2024年第1期24-33,共10页Weicheng Chen Zhuoyao Guo Mengru Li Wei Sheng Guoying Huang 
Shanghai Natural Science Foundation of Science and Technology Innovation Action Plan(Grant Number:21ZR1410200 and 21ZR1409900).
Primary ciliary dyskinesia(PCD)is a rare disorder characterized by extensive genetic heterogeneity.However,in the genetic pathogenesis of PCD,copy number variation(CNV)has not received sufcient attention and has rarel...
关键词：Primary ciliary dyskinesia DNAH5 gene Copy number variation Phenotypic heterogeneity 
De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family
《International Journal of Ophthalmology(English edition)》2023年第12期1952-1961,共10页Shuang Zhang Hai-Ming Yong Gang Zou Mei-Jiao Ma Xue Rui Shang-Ying Yang Xun-Lun Sheng 
Supported by the National Natural Science Foundation of China(No.82060183);Ningxia Natural Science Foundation(No.2022AAC03388);the Key Research and Development Project of Ningxia Hui Autonomous Region(No.2021BEG02045,No.2020BEG03044).
AIM:To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32.METHODS:A family with familial exudative vitreoretinopathy(FEVR)phenotype was i...
关键词：familial exudative vitreoretinopathy copy number variation copy number deletion TSPAN12 longread sequencing 
The influence of the copy number of invader on the fate of bacterial host cells in the antiviral defense by CRISPR-Cas10 DNases
《Engineering Microbiology》2023年第4期38-47,共10页Zhenxiao Yu Jianan Xu Yan Zhang Qunxin She 
supported by grants from the National Key R&D Pro-gram of China(2021YFA0717000);the National Natural Science Foun-dation of China(31771380)to QS;from the China Postdoctoral Sci-ence Foundation(2020M672050);the Qingdao Applied Research Fund For Postdoctoral Researchers(62450079311107)to ZY;an Open Project from the State Key Laboratory of Microbial Technology at Shan-dong University.
Type Ⅲ CRISPR-Cas10 systems employ multiple immune activities to defend their hosts against invasion from mobile genetic elements(MGEs),including DNase and cyclic oligoadenylates(cOA)synthesis both of which are hoste...
关键词：TypeⅢCRISPR systems Target RNA-activated Cas10 DNase Invader copy number Plasmid interference assay Abortive infection Invader clearance 
Detection of meningeal carcinomatosis by metagenomic next-generation sequencing and copy number variation analysis of cerebrospinal fluid
《China Medical Abstracts(Internal Medicine)》2023年第3期190-190,共1页任海涛 
Objective To evaluate the significance of copy number variation(CNV)and metagenomic nextgeneration sequencing(mNGS)of cerebrospinal fluid(CSF)in the diagnosis of meningeal carcinomatosis(MC).Methods Ten patients with ...
关键词：CEREBROSPINAL FLUID DIAGNOSIS 
Improving solubility and copy number of taxadiene synthase to enhance the titer of taxadiene in Yarrowia lipolytica被引量：4
《Synthetic and Systems Biotechnology》2023年第2期331-338,共8页Man Xu Wenliang Xie Zhen Luo Chun-Xiu Li Qiang Hua Jian-He Xu 
supported by the National Key Research and Development Program of China(2019YFA0905000);the National Natural Science Foundation of China(21871085 and 31971380);the Fundamental Research Funds for the Central Universities(222201714026).
Taxadiene is an important precursor for the biosynthesis of highly effective anticancer drug paclitaxel,but its microbial biosynthesis yield is very low.In this study,we employed Yarrowia lipolytica as a microbial hos...
关键词：Taxadiene Yarrowia lipolytica “Push–pull”ostrategy Multi-copy integration Fed-batch fermentation 
CAS Array:design and assessment of a genotyping array for Chinese biobanking
《Precision Clinical Medicine》2023年第1期1-7,共7页Zijian Tian Fei Chen Jing Wang Benrui Wu Jian Shao Ziqing Liu Li Zheng You Wang Tao Xu Kaixin Zhou 
supported by the National Key R&D Program of China(Grant No.2018YFC2001003);the Strategic Priority Research Program of the Chinese Academy of Sciences(category B,Grant No.XDB38020100).
Background:Chronic diseases are becoming a critical challenge to the aging Chinese population.Biobanks with extensive genomic and environmental data offer opportunities to elucidate the complex gene-environment intera...
关键词：GENOTYPING single-nucleotide polymorphism(SNP) mitochondrial copy number chronic disease precision medicine SNP array 
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