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Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations

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Zoological Research 2022年第3期43卷 442-456页

作者： Zhi-lin Ren Hou-Bin Zhang lin Li zheng-lin yang Li Jiang Department of Laboratory Medicine Sichuan Provincial People's HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Sichuan Provincial Key Laboratory for Human Disease Gene Study Sichuan Provincial People's HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical SciencesChengduSichuan 610072China

Mutations in serologically defined colon cancer autoantigen protein 8(SDCCAG8)were first identified in retinal ciliopathy families a decade ago with unknown function.To investigate the pathogenesis of SDCCAG8-associated retinal ciliopathies in vivo,we employed CRISPR/Cas9-mediated homology-directed recombination(HDR)to generate two knock-in mouse models,Sdccag8^(Y236X/Y236X) and Sdccag8^(E451GfsX467/E451GfsX467),which carry truncating mutations of the mouse Sdccag8,corresponding to mutations that cause Bardet-Biedl syndrome(BBS)and Senior-L?ken syndrome(SLS)(c.696T>G p.Y232X and c.1339-1340ins G p.E447GfsX463)in humans,respectively.The two mutant Sdccag8 knock-in mice faithfully recapitulated human SDCCAG8-associated BBS phenotypes such as rod-cone dystrophy,cystic renal disorder,polydactyly,infertility,and growth retardation,with varied age of onset and severity depending on the hypomorphic strength of the Sdccag8 mutations.To the best of our knowledge,these knock-in mouse lines are the first BBS mouse models to present with the polydactyly phenotype.Major phototransduction protein mislocalization was also observed outside the outer segment after initiation of photoreceptor degeneration.Impaired cilia were observed in the mutant photoreceptors,renal epithelial cells,and mouse embryonic fibroblasts derived from the knock-in mouse embryos,suggesting that SDCCAG8 plays an essential role in ciliogenesis,and cilium defects are a primary driving force of SDCCAG8-associated retinal ciliopathies.

关键词： SDCCAG8 Primary cilia Retinal ciliopathy Bardet-Biedl syndrome(BBS) Senior-L?ken syndrome(SLS) Nephronophthisis(NPHP) Polydactyly

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Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction

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Chinese Medical Journal 2020年第10期133卷 1175-1181页

作者： Dong-Mei Chen Shi Ma Xiang-Lan Tang Ji-Yun yang zheng-lin yang Clinical Medical School Southwest Medical UniversityLuzhouSichuan 646000China The Key Laboratory for Human Disease Gene Study of Sichuan Province and Institute of Laboratory Medicine Sichuan Provincial People's HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical SciencesChengduSichuan 610072China Natural Products Research Center Institute of Chengdu BiologySichuan Translational Medicine HospitalChinese Academy of SciencesChengduSichuan 610072China.

Background:Patients carrying the HongKongαα(HKαα)allele and-α3.7/αααanti-4.2 could be misdiagnosed as-α3.7/ααby the current conventional thalassemia detection methods,leading to inaccurate genetic counseling and an incorrect prenatal diagnosis.This study was aimed to accurately analyze the genotypes of HKααcarriers and-α3.7/αααanti-4.2.Methods::Samples were collected in our hospital from July 2017 to October 2019.Twenty-four common types of Chinese thalassemia were screened by gap-polymerase chain reaction(Gap-PCR)and reverse dot blot(RDB).Anti-4.2 multiplex-PCR was used to confirm carriers of theαααanti-4.2 duplication with-α3.7 deletion.Two-round nested PCR and multiplex ligation-dependent probe amplification(MLPA)were applied to accurately identify and confirm their genotypes.For data analysis,we used descriptive statistics and Fisher’s exact tests.Results::Two thousand five hundred and forty-four cases were identified as thalassemia in 5488 peripheral blood samples.The results showed thatα,β,andαβcompound thalassemia were identified in 1190(46.78%),1286(50.55%),and 68(2.67%)cases,respectively.A total of 227 samples from thalassemia patients were identified as-α3.7/ααby Gap-PCR,and the genotypes of two samples were uncertain.There was a difference between Gap-PCR and combined groups(Gap-PCR combined with nested PCR and MLPA)in detecting HKαα(Pling can be provided in the clinic using nested PCR combined with MLPA.

关键词： Thalassemia HongKongαα Nested polymerase chain reaction Multiplex ligation-dependent probe amplification Gene dosage

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Inhibition of mTOR signaling by rapamycin protects photoreceptors from degeneration in rd1 mice

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Zoological Research 2021年第4期42卷 482-486页

作者： Jia-Liang yang Tong-Dan Zou Fang yang zheng-lin yang Hou-Bin Zhang Key Laboratory for Human Disease Gene Study of Sichuan Province and Institute of Laboratory Medicine Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Institute of Chengdu Biology Sichuan Translational Medicine HospitalChinese Academy of SciencesChengduSichuan 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalChengduSichuan 610072China

Retinitis pigmentosa(RP)is an inherited retinal degenerative disease that begins with defective rod photoreceptor function,followed by impaired cone function,and complete blindness in its late stage.To date,however,there is no effective treatment for RP.By carrying a nonsense mutation in the Pde6b gene,rd1 mice display elevated cGMP in conjunction with higher intracellular Ca2+in their rod photoreceptors,resulting in fast retinal degeneration.Ca2+has been linked to activation of the mammalian target of rapamycin(mTOR)pathway.The mTOR pathway integrates extracellular and intracellular signals to sense the supply of nutrients and plays a central role in regulating protein and lipid synthesis as well as apoptosis and autophagy.In the present study,we showed that mTOR and phosphorylated mTOR(p-mTOR,activated form of mTOR)are up-regulated in rd1 photoreceptors at postnatal day 10(P10),a pre-degenerative stage.Moreover,the downstream effectors of mTOR,such as pS6K and S6K,are also increased,suggesting activation of the mTOR signaling pathway.Intravitreal administration of rapamycin,a negative regulator of mTOR,inhibits the mTOR pathway in rd1 photoreceptors.Consequently,the progression of retinal degeneration is slower and retinal function is enhanced,possibly mediated by activation of autophagy in the photoreceptors.Taken together,these results highlight rapamycin as a potential therapeutic avenue for retinal degeneration.

关键词： degeneration rapamycin impaired

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Multi-level Evaluation of Load Supply Adequacy for Transmission Network

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Energy and Power Engineering 2013年第4期5卷 728-732页

作者： zheng-lin yang Jian-guo Yao Jian Geng China Electric Power Research Institute Nanjing China

Considering sharp increase of central integration scale of intermittent energy generation, power system couldn’t rely on the determined model based operation schedule to assure its reliable load supply. Then, this article presents a new load supply adequacy evaluation method, which based on continuous security constrained generation optimization, and provides the functional architecture design of online multi-level short term load supply adequacy evaluation system.

关键词： Load Supply Adequacy Operation Schedule Security Analysis Continuous Security Constrained Generation Optimization Unit Commitment Economic Dispatch

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Mechanism study of Cu(Ⅱ) adsorption from acidic wastewater by ultrasonic-modified municipal solid waste incineration fly ash

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Chinese Journal of Chemical Engineering 2024年第3期67卷 157-165页

作者： Shunda lin yang Lu lin zheng ling Long Xuguang Jiang Jianhua Yan State Key Laboratory of Clean Energy Utilization Institute for Thermal Power EngineeringZhejiang UniversityHangzhou 310027China Zhejiang University Qingshanhu Energy Research Center Hangzhou 310027China Hangzhou Xiaoshan Jinjiang Green Energy Co. Ltd.XiaoshanHangzhou 310000China

High concentrations of copper ions(Cu(Ⅱ)) in water will pose health risks to humans and the ecological environment. Therefore, this study aims to utilize ultrasonic-cured modified municipal solid waste incineration(MSWI) fly ash for Cu(Ⅱ) adsorption to achieve the purpose of “treating waste by waste.” The effects of p H, adsorption time, initial concentration, and temperature on the modified MSWI fly ash’s adsorption efficiency were systematically studied in this article. The adsorption performance of the modified MSWI fly ash can be enhanced by the ultrasonic modification. At pH = 2, 3 and 4, the adsorption capacity of the modified MSWI fly ash for Cu(Ⅱ) increased by 2.7, 1.9 and 1.2 times, respectively. Furthermore, it was suggested that the adsorption process of the modified MSWI fly ash can be better simulated by the pseudo-second-order kinetic model, with a maximum adsorption capacity calculated by the Langmuir model of 24.196 mg.g-1. Additionally, the adsorption process is spontaneous,endothermic, and chemisorption-dominated from the thermodynamic studies(ΔH and ΔS > 0, ΔG < 0).Finally, the enhanced adsorption performance of the modified MSWI fly ash for Cu(Ⅱ) may be attributed to electrostatic interaction and chelation effects.

关键词： Ultrasound MSWI fly ash Cu(Ⅱ) Wastewater Adsorption

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Middle hepatic vein variation provides a safe path for anterior transection of hepatocellular carcinoma in caudate lobe

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Hepatobiliary & Pancreatic Diseases International 2024年第4期23卷 438-440页

作者： Bing-Yi lin Qi-Jun Zhang Zhe yang Shu-Sen zheng Department of Hepatobiliary and Pancreatic Surgery The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003China Department of Thyroid Surgery The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003China Division of Hepatobiliary Pancreatic Surgery Shulan(Hangzhou)HospitalZhejiang Shuren University School of MedicineHangzhou 310000China

To the Editor:Hepatocellular carcinoma(HCC)is one of the main causes of cancer related death worldwide,and new cases are expected to continue to increase in future[1].Surgical resection is still the best way to remove the tumor and improve patient’s prognosis.However,resection of caudate lobe often presents a technical challenge,even to accomplished hepatic surgeons.Caudate lobe is located anterior to the inferior vena cava(IVC)and posterior to the bifurcation of the portal vein(PV),generally consists of three regions:the paracaval portion,the left Spiegel lobe and the process portion[2].The anatomy of the paracaval portion includes the liver parenchyma ventral to the hepatic IVC and the area between the Spiegel lobe and the right lobe adjacent to the middle hepatic vein(MHV)ventrally,which was classified by Couinaud as segment IX[3].Here,we presented a case of HCC with successful downstaging therapy,as well as variation of MHV,which provides a safe path for anterior transection of segment IX.

关键词： hepatic anatomy Middle

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Understanding Urban Vitality from the Economic and Human Activities Perspective:A Case Study of Chongqing,China

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Chinese Geographical Science 2024年第1期34卷 52-66页

作者： yang Fiona Fan lin Geng LEI Yubing WANG Ying YI zheng School of Geography and Planning Sun Yat-sen UniversityGuangzhou510006China Southern Marine Science and Engineering Guangdong Laboratory(Zhuhai) Zhuhai519100China Chongqing Planning and Design Institute Chongqing401147China

The literature on urban vitality tends to focus on the built environment.This paper argues that some important processes in shaping vitality may be overlooked without examining the intensity and diversity of economic and human activities.Using newly developed spatial big data and adopting the methods of multi-indicator measurement and spatial analysis methods,we analyzed the pattern of urban vitality in Chongqing,a provincial city in western China and,on this basis,evaluated the creation and maintenance of urban vitality from the economic and human activities perspective.Our findings indicate that the impacts of economic and human activities are positive and significant.Among the three intensity and diversity indicators,economic intensity and population density show an effect on urban vitality stronger than that of economic diversity.However,economic diversity has the strongest superposition or interactive effect,and is thus an important foundation dynamic.The positive effect of population density on urban vitality is largely a result of Chongqing’s jobs-housing balance.The case of Chongqing highlights the importance of topographic features,historical inheritance,large-scale migration,and cultural activities in shaping the distinctive vitality pattern of a city.This study contends that the creation and maintenance of urban vitality can not be fully explained without incorporating the impacts of economic and human activities.It contributes to a comprehensive measurement of urban vitality and enriches its connotations.

关键词： urban vitality economic diversity economic intensity population density Chongqing,China

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Corrigendum:Diagnosis of the accurate genotype of HKaa carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction

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Chinese Medical Journal 2020年第13期133卷 1631-1631页

作者： Dong-Mei Chen Shi Ma Xiang-Lan Tang Ji-Yun yang zheng-lin yang Clinical Medical School Southwest Medical UniversityLuzhouSichuan 646000China The Key Laboratory for Human Disease Gene Study of Sichuan Province and Institute of Laboratory Medicine Sichuan Provincial Peopled HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical SciencesChengduSichuan 610072China N atural Products Research Center Institute of Chengdu BiologySichuan Translational Medicine HospitalChinese Academy of SciencesChengduSichuan 610072China

In the article titled,"Diagnosis of the accurate genotype of HKaa carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction"published in pages 1175-1181,Issue 10,Vol.133 of Chinese Medical Journal,the author and aliation section should be corrected as follows.

关键词： patients Cor thalassemia

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Normal sperm head morphometric reference valuesin fertile Asian males

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Asian Journal of Andrology 2024年第3期26卷 315-320页

作者： Ye-lin Jia Ying-Bi Wu lin Yu Yan zheng Ting-Ting yang Yan-Yun Wang Bin Zhou lin Zhang Fu-Ping Li Laboratory of Andrology West China Second University Hospital Human Sperm BankChengdu 610000China Laboratory of Molecular Translational Medicine Center for Translational MedicineChengdu 610061China Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University) Ministry of EducationChengdu 610061China NHC Key Laboratory of Chronobiology West China Second University HospitalSichuan UniversityChengdu 610000China

Sperm head morphology is crucial for male factor infertility diagnosis and assessment of male reproductive potential.Severalcriteria are available to analyze sperm head morphology,but they are limited by poor methodology comparability and populationapplicability.This study aimed to explore comprehensive and new normal morphometric reference values for spermatozoa heads infertile Asian males.An automated sperm morphology analysis system captured 23152 stained spermatozoa from confirmed fertilemales.Of these samples,1856 sperm head images were annotated by three experienced laboratory technicians as“normal”.Weemployed 14 novel morphometric features to describe sperm head size(head length,head width,length/width ratio,and girth),shape(ellipse intersection over union,girth intersection over union,short-axis symmetry,and long-axis symmetry),area(head,acrosome,postacrosomal areas,and acrosome area ratio),and degrees of acrosome and nuclear uniformity.This straight-forwardmethod for the morphometric analysis of sperm by accurate visual measurements is clinically applicable.The measured parameterspresent valuable information to establish morphometric reference intervals for normal sperm heads in fertile Asian males.Thepresented detailed measurement data will be valuable for interlaboratory comparisons and technician training.In vitro fertilizationand andrology laboratory technicians can use these parameters to perform objective morphology evaluation when assessing malefertilization potential.

关键词： fertile Asian males head morphometric reference value normal spermatozoa

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Recent progress in functional modification and crosslinking of bioprosthetic heart valves

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Regenerative Biomaterials 2024年第1期3卷 1-16页

作者： Cheng zheng Li yang Yunbing Wang National Engineering Research Center for Biomaterials Sichuan UniversityChengdu 610064China

Valvular heart disease(VHD),clinically manifested as stenosis and regurgitation of native heart valve,is one of the most prevalent cardiovascular diseases with high mortality.Heart valve replacement surgery has been recognized as golden standard for the treatment of VHD.Owing to the clinical application of transcatheter heart valve replacement technic and the excellent hemodynamic performance of bioprosthetic heart valves(BHVs),implantation of BHVs has been increasing over recent years and gradually became the preferred choice for the treatment of VHD.However,BHVs might fail within 10-15 years due to structural valvular degeneration(SVD),which was greatly associated with drawbacks of glutaraldehyde crosslinked BHVs,including cytotoxicity,calcification,component degradation,mechanical failure,thrombosis and immune response.To prolong the service life of BHVs,much effort has been devoted to overcoming the drawbacks of BHVs and reducing the risk of SVD.In this review,we summarized and analyzed the research and progress on:(i)modification strategies based on glutaraldehyde crosslinked BHVs and(ii)nonglutaraldehyde crosslinking strategies for BHVs.

关键词： bioprosthetic heart valves modification crosslinking anticalcification antithrombosis

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