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Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease

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International Journal of Ophthalmology(English edition) 2020年第4期13卷 671-676页

作者： Xiao-Dan Hao Ying liu bao-wei li wei Wu Xiao-Wen Zhao Institute for Translational Medicine College of MedicineQingdao UniversityQingdao 266021Shandong ProvinceChina State Key Laboratory Cultivation Base Shandong Provincial Key Laboratory of OphthalmologyShandong Eye InstituteShandong First Medical University&Shandong Academy of Medical SciencesQingdao 266071Shandong ProvinceChina

AIM: To identify the disease-associated mutations in a Chinese Stargardt disease(STGD) family, extend the existing spectrum of disease-causing mutations and further define the genotype-phenotype ***: A Chinese STGD family and 200 normal controls were collected. Whole exome sequencing(WES) and bioinformatics analysis were performed to find the pathogenic gene mutation. Physico-chemical parameters of mutant and wildtype proteins were computed by Prot Param tool. Domains analysis was performed by SMART online software. HOPE online software was used to analyze the structural effects of mutation. Immunofluorescence, quantitative real-time polymerase chain reaction and Western blotting were used for expression ***: Using WES, a novel homozygous mutation(NM_000350: c.G3190 C, p.G1064 R) in ABCA4 gene was identified. This mutation showed co-segregation with phenotype in this family. It was not found in the 200 unrelated health controls and absent from any databases. It was considered "Deleterious" as predicted by five function prediction softwares, and was highly conserved during evolution. ABCA4 was expressed highly in the human eye and mouse retina. The p.G1064 R was located in AAA domain, may force the local backbone into an incorrect conformation, disturb the local structure, and reduce the activity of ATPase resulting in the disease pathology. CONCLUSION: We define a novel pathogenic mutation(c.G3190 C of ABCA4) of STGD. This extends the existing spectrum of disease-causing mutations and further defines the genotype-phenotype correlations.

关键词： Stargardt disease whole-exome sequencing ABCA4 novel mutation retina

Water solubility enhancements of PAHs by sodium castor oil sulfonate microemulsions

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Journal of Environmental Sciences 2003年第5期15卷 583-589页

作者： ZHU li zhong *, ZHAO bao wei, li Zong lai (Department of Environmental Science, Zhejiang University, Hangzhou 310028, China.) Department of Environmental Science Zhejiang University Hangzhou 310028 Chin

Water solubility enhancements of naphthalene(Naph), phenantherene(Phen) and pyrene(Py) in sodium castor oil sulfonate(SCOS) microemulsions were evaluated. The apparent solubilities of PAHs are linearly proportional to the concentrations of SCOS microemulsion, and the enhancement extent by SCOS solutions is greater than that by ordinary surfactants on the basis of weight solubilization ratio(WSR). The log K em values of Naph, Phen, and Py are 3 13, 4 44 and 5 01 respectively, which are about the same as the log K ow values. At 5000 mg/L of SCOS conccentration, the apparent solubilities are 8 80, 121, and 674 times as the intrinsic solubilities for Naph, Phen, and Py. The effects of inorganic ions and temperature on the solubilization of solutes are also investigated. The solubilization is improved with a moderate addition of Ca 2+ , Na +, NH + 4 and the mixture of Na +, K +, Ca 2+ , Mg 2+ and NH + 4. WSR values are enhanced by 22 0% for Naph, 23 4% for Phen, and 24 6% for Py with temperature increasing by 5℃. The results indicated that SCOS microemulsions improve the performance of the surfactant enhanced remediation(SER) of soil, by increasing solubilities of organic pollutants and reducing the level of surfactant pollution and remediation expenses.

关键词： sodium castor oil sulfonate microemulsion solubilization PAHs

Microstructure and mechanical properties of lightweight AlCrTiV_(0.5)Cu_(x) high-entropy alloys

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Rare Metals 2022年第6期41卷 2016-2020页

作者： Zhen Peng Zai-Bin Luo bao-wei li Jin-Feng li Heng-wei Luan Jia-Lun Gu Yuan Wu Ke-Fu Yao School of Materials Science and Engineering Jiangsu Uni versityZhenjiang 212013China Institute of Materials China Academy of Engineering PhysicsMianyang 621908China School of Materials Science and Engineering Tsinghua UniversityBeijing 100084China Department of Mechanical Engineering City University of Hong KongHong Kong 999077China State Key Laboratory for Advanced Metals and Materials.University of Science and Technology Beijing Beijing 100083China

High-entropy alloys(HEAs)are an emerging and rapidly developing family of alloys with appealing properties such as lightweight HEAs with excellent mechanical *** this study,to obtain lightweight HEAs with exceptional hardness,we prepared AlCrTiV_(0.5)Cu_(x)(x=0,0.2,0.4,0.6,0.8 and 1.0,denoted as Cu_(0),Cu_(0.2),Cu_(0.4),Cu_(0.6),Cu_(0.8) and Cu_(1.0) alloys,respectively)HEAs and analyzed their microstructure and hardness.

关键词： alloys properties. Microstructure

CMSOF:a structured data organization framework for scanned Chinese medicine books in digital libraries

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Journal of Zhejiang University-Science C(Computers and Electronics) 2010年第11期11卷 882-892页

作者： Jie YUAN bao-gang wei li-dong WANG wei-ming LU Yue-ting ZHUANG School of Computer Science and Technology Zhejiang University Hangzhou 310027 China

Organizing unstructured information from books into a well-defined structure is a significant challenge in digital *** digital libraries can provide only search services at the granularity of books and few libraries allow books to be accessed at the granularity of chapters,as manually constructing directory information for books is *** structured data from scanned books thus remains an urgent and important *** this paper,we propose a novel structured data organization framework called CMSOF to organize scanned data automatically,and apply it to a Chinese medicine digital library. In the framework,image blocks and text blocks on the scanned page of books are separated based on the gray histogram projection method or a hybrid method of region growth and the Ada-Boosting classifier at first,and then the text structure is obtained from text blocks by text size and font type ***,image blocks and structured OCRed text are correlated at the semantic *** integrating the structured data into a Chinese medicine information system(CMIS) ,we can organize the Chinese medicine books well and users can access the books with flexibility,which indicates that CMSOF is an efficient framework to organize books mixed with images and text.

关键词： Digital library Chinese medicine Structured data organization Cross media Image separation

Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report

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World Journal of Clinical Cases 2021年第33期9卷 10257-10264页

作者： Hong-Xian Guo bao-wei li Mei Hu Shao-Yan Si Kai Feng Department of Paediatrics Strategic Support Force Medical Center of PLABeijing 100101China Department of ENT Strategic Support Force Medical Center of PLABeijing 100101China ICU Strategic Support Force Medical Center of PLABeijing 100101China Special Medical Center Strategic Support Force Medical Center of PLABeijing 100101China

BACKGROUND Kabuki syndrome(KS)is a rare syndrome characterized by multisystem congenital anomalies and developmental ***2D and KDM6A mutations were identified as the main causative genes in KS *** are few case reports and genetic analyses,especially of KDM6A gene mutation,in *** SUMMARY This study reports a de novo KDM6A mutation in a Chinese infant with KS.A 2-month-old Chinese baby was diagnosed with KS,which manifested as hypoglycemia,congenital anal atresia at birth,feeding difficulties,hypotonia,and serious postnatal growth *** died of recurrent respiratory infections at age 13 *** sequencing of his blood DNA revealed a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19).CONCLUSION We present a Chinese KS patient with a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19),broadening the mutation spectrum.

关键词： Kabuki syndrome KDM6A Gene mutation Chinese Case report

Structure and electrochemical performances of Mg20-xYxNi10（x=0-4） alloys prepared by mechanical milling

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Rare Metals 2019年第10期38卷 954-964页

作者： Yang-Huan Zhang Xi-Ping Song Pei-Long Zhang Yong-Guo Zhu Hui-Ping Ren bao-wei li Key Laboratory of Integrated Exploitation of Baiyun Obo Multi-Metal Resources Inner Mongolia University of Science and TechnologyBaotou 014010China State Key Laboratory for Advanced Metals and Materials University of Science and Technology BeijingBeijing 100083China Beijing Whole Win Materials Sci.&Tech.Co. Ltd.Beijing 100083Chin

Mg2Ni-type Mg20-xYxNi10(x=0,1,2,3 and4) electrode alloys were fabricated by vacuum induction ***,the as-cast alloys were mechanically milled on a planetary-type ball *** effects of milling time and Y content on the microstructures and electrochemical performances of the alloys were investigated in *** results show that nanocrystalline and amorphous structure can be successfully obtained through mechanical *** substitution of Y for Mg facilitates the glass forming of the Mg2Ni-type alloy and significantly enhances the electrochemical characteristics of the alloy ***,the discharge capacity of Y-free alloy monotonously grows with the milling time prolonging,while that of the Y-substituted alloys has the maximum values in the same *** milling time of obtaining the greatest discharge capacity markedly decreases with Y content *** electrochemical kinetics of the alloys,including high rate discharge ability(HRD),diffusion coefficient(D),limiting current density(IL) and charge transfer rate,monotonously increase with milling time extending.

关键词： Mg2Ni-type alloy Y substitution for Mg Milling duration Electrochemical performances

Expression of non-structural protein NS3 gene of Bombyx mori densovirus (China isolate)

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Journal of Genetics and Genomics 2008年第4期35卷 239-244页

作者： Huijuan Yin Qin Yao Zhongjian Guo Fang bao wei Yu Jun li Keping Chen Institute of life Sciences Jiangsu University 301# Xuefu Road Zhenjiang 212013 China

The invertebrate parvovirus Bombyx mori Densonucleosis Virus type 3 （China isolate）, named BmDNV-3, is a kind of bidensovirus. It is a new type of virus with unique replication mechanisms. To investigate the effects of the NS3 gene during viral DNA replication, a pair of primers was designed for amplifying NS3 gene of Bombyx mori densovirus （China isolate）. Gene NS3 amplified was cloned into a prokaryotic expression vector pET-30a and the donor plasmid pFastBacHTe, respectively. The NS3 protein was expressed in Escherichia coli BL21. The pFastBacHTe-NS3 was transformed to E. coli DHIOBac. The recombinant bacmid baculoviruses （rBacmid-EGFP-NS3） isolated from the white colonies were transfected into BmN-4 cells using a transfection reagent. BraN-4 cells were infected with recombinant virus to express fusion proteins. The expression of fusion protein around 30 kDa in E. coli BL21 was identified by SDS-PAGE, Western blotting, and mass spectrometry. The expressed NS3 protein by B. mori nucleopolyhedrovirus bacmid system was confirmed by Western blotting using an anti-NS3 polyclonal antibody. And about 45 kDa protein was found. The expressed fusion protein was smaller than the expected size of EGFP-NS3, 55 kDa. Western blotting analysis indicated that EGFP-NS3 protein was expressed in infected larvae with smaller molecular size.

关键词： BmDNV NS3 protein expression

Studies of Chemical Constituents and Their Antioxidant Activities From Astragalus mongholicus Bunge

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Biomedical and Environmental Sciences 2005年第5期18卷 297-301页

作者： DE-HONG YU YONG-MING bao CHAO-liANG wei, li-JIA AN Department of Environment and Biology Dalian University of Technology Dalian 116024 Liaoning China

To evaluate the antioxidant activities of different chemical constituents from Astragalus mongholicus Bunge and their protection against xanthine （XA）/xanthine oxidase （XO）-induced toxicity in PC12 cells. Methods The compounds of Astragalus mongholicus Bunge were isolated by chromatography and the structures were elucidated on the basis of spectral data interpretation. Their antioxidant activities were detected by 1, 1-diphenyl-2-picrylhydrazyl （DPPH） radical scavenging activities in a cell-free system. Meanwhile, the effects against XA/XO-induced toxicity were assessed using MTT assay in PC12 cells. Results Ten principal constituents were isolated and identified as formononetin （Ⅰ）, ononin （Ⅱ）, calycosin （Ⅲ）, calycosin-7-O-β-D-glucoside （Ⅳ）, 9,10-dimethoxypterocarpan-3-O-β-D-glucoside （Ⅴ）, adenosine （Ⅵ）, pinitol （Ⅶ）, daucosterol （Ⅷ）, β-sitoster （Ⅸ） and saccharose （Ⅹ） from Astragalus mongholicus Bunge. The compounds Ⅰ, Ⅲ, and Ⅳ scavenged DPPH free radicals in vitro. Formononetin and calycosin were found to inhibit XA/XO-induced cell injury significantly, with an estimated EC50 of 50 ng/mL. Conclusion Compound Ⅲ, Ⅵ, and Ⅶ are first reported in this plant. Calycosin exhibits the most potent antioxidant activity both in the cell-free system and in the cell system.

关键词： Astragalus mongholicus Bunge Constituents Antioxidant PC12 Toxicity

Microstructure and mechanical properties of lightweight AICrTiV0.5Cux high-entropy alloys

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Rare Metals 2022年第6期41卷 2016-2020页

作者： Zhen Peng Zai-Bin Luo bao-wei li Jin-Feng li Heng-wei Luan Jia-Lun Gu Yuan Wu Ke-Fu Yao School of Materials Science and Engineering Jiangsu University Institute of Materials China Academy of Engineering Physics School of Materials Science and Engineering Tsinghua University Department of Mechanical Engineering City University of Hong Kong State Key Laboratory for Advanced Metals and Materials University of Science and Technology Beijing

High-entropy alloys （HEAs） are an emerging and rapidly developing family of alloys with appealing properties such as lightweight HEAs with excellent mechanical *** this study,to obtain lightweight HEAs with exceptio...

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