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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

Current Medical Science 2024年第2期44卷 419-425页

作者： Jia-xun LI Ling-rui MENG Bao-ke HOU Xiao-lu HAO Da-jiang WANG Ling-hui QU Zhao-hui LI Lei ZHANG Xin JIN Department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on *** potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and *** this study,the complete clinical characteristics of two Chinese ARB families were ***:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family ***:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB *** novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of *** novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional ***:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific *** novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation

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Organic near-infrared optoelectronic materials and devices:an overview

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Advanced Photonics 2024年第1期6卷 17-42页

作者： Zong-lu Che Chang-Cun Yan Xue-Dong Wang Liang-Sheng liao Soochow University Institute of Functional Nano and Soft Materials(FUNSOM)Jiangsu Key Laboratory for Carbon-Based Functional Materials and DevicesSuzhouChina Soochow University College of ChemistryChemical Engineering and Materials ScienceJiangsu Engineering Laboratory of Novel Functional Polymeric MaterialsSuzhouChina Macao University of Science and Technology Macao Institute of Materials Science and EngineeringMacaoChina

Near-infrared(NIR)light has shown great potential for military and civilian applications owing to its advantages in the composition of sunlight,invisibility to human eyes,deeper penetration into biological tissues,and low optical loss in optical ***,organic optoelectronic materials that can absorb or emit NIR light have aroused great scientific interest in basic science and practical *** on these NIR organic optoelectronic materials,NIR optoelectronic devices have been greatly improved in performance and *** this review,the representative NIR organic optoelectronic materials used in organic solar cells,organic photodetectors,organic light-emitting diodes,organic lasers,and organic optical waveguide devices are briefly introduced,and the potential applications of each kind of device are briefly ***,we summarize and take up the development of NIR organic optoelectronic materials and devices.

关键词： near-infrared organic optoelectronic materials organic solar cells organic light-emitting devices organic optical waveguides

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Sucrose-associated SnRK1a1-mediated phosphorylation of Opaque2 modulates endosperm filling in maize

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Molecular Plant 2024年第5期17卷 788-806页

作者： Tao Yang Yunqin Huang Longyu liao Shanshan Wang Haoyu Zhang Jingying Pan Yongcai Huang Xiaoling Li Di Chen Tao Liu Xiaoduo lu Yongrui Wu State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China Sichuan Agricultural UniversityChengdu 611130SichuanChina National Key Laboratory of Plant Molecular Genetics CAS Center for Excellence in Molecular Plant SciencesShanghai lnstitute of Plant Physiology and EcologyChinese Academy of SciencesShanghai 200032China Institute of Molecular Breeding for Maize Qilu Normal UniversityJinanChina

During maize endosperm filling,sucrose not only serves as a source of carbon skeletons for storage-reserve synthesis but also acts as a stimulus to promote this ***,the molecular mechanisms underlying sucrose and endosperm filling are poorly *** this study,we found that sucrose promotes the expression of endosperm-filling hub gene Opaque2(O2),coordinating with storage-reserve *** showed that the protein kinase SnRK1a1 can attenuate O2-mediated transactivation,but sucrose can release this *** assays revealed that SnRK1a1 phosphorylates O2 at serine 41(S41),negatively affecting its protein stability and transactivation *** observed that mutation of SnRK1a1 results in larger seeds with increased kernel weight and storage reserves,while overexpression of SnRK1a1 causes the opposite *** of the native O2(O2-OE),phospho-dead(O2-SA),and phospho-mimetic(O2-SD)variants all increased 100-kernel *** O2-SA seeds exhibit smaller kernel size,they have higher accumulation of starch and proteins,resulting in larger vitreous endosperm and increased test weight.O2-SD seeds display larger kernel size but unchanged levels of storage reserves and test weight.O2-OE seeds show elevated kernel dimensions and nutrient storage,like a mixture of O2-SA and O2-SD ***,our study discovers a novel regulatory mechanism of maize endosperm *** of S41 as a SnRK1-mediated phosphorylation site in O2 offers a potential engineering target for enhancing storage-reserve accumulation and yield in maize.

关键词： maize Opaque2 SnRK1 endosperm phosphorylation sucrose

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Heterojunction-engineered carrier transport in elevated-metal metal-oxide thin-film transistors

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Journal of Semiconductors 2024年第10期45卷 54-59页

作者： Xiao Li Zhikang Ma Jinxiong Li Wengao Pan Congwei liao Shengdong Zhang Zhuo Gao Dong Fu Lei lu School of Electronic and Computer Engineering Peking UniversityShenzhen 518055China Guangdong Juhua Printed Display Technology Company Limited Guangzhou 510700China

This study investigates the carrier transport of heterojunction channel in oxide semiconductor thin-film transistor(TFT)using the elevated-metal metal-oxide(EMMO)architecture and indium−zinc oxide(InZnO).The heterojunction band diagram of InZnO bilayer was modified by the cation composition to form the two-dimensional electron gas(2DEG)at the interface quantum well,as verified using a metal−insulator−semiconductor(MIS)*** the 2DEG indeed contributes to a higher mobility than the monolayer channel,the competition and cooperation between the gate field and the built-in field strongly affect such mobility-boosting effect,originating from the carrier inelastic collision at the heterojunction interface and the gate field-induced suppression of quantum *** from the proper energy-band engineering,a high mobility of 84.3 cm2·V^(−1)·s^(−1),a decent threshold voltage(V_(th))of−6.5 V,and a steep subthreshold swing(SS)of 0.29 V/dec were obtained in InZnO-based heterojunction TFT.

关键词： oxide semiconductor thin-film transistors two-dimensional electron gas heterojunction high mobility

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Cath-KP,a novel peptide derived from frog skin,prevents oxidative stress damage in a Parkinson’s disease model

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Zoological Research 2024年第1期45卷 108-124页

作者： Huanpeng lu Jinwei Chai Zijian Xu Jiena Wu Songzhe He Hang liao Peng Huang Xiaowen Huang Xi Chen Haishan Jiang Shaogang Qu Xueqing Xu Department of Neurology Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdong 510515China Guangdong Provincial Key Laboratory of New Drug Screening School of Pharmaceutical SciencesSouthern Medical UniversityGuangzhouGuangdong 510515China Guangdong-Hong Kong-Macao Greater Bay Area Center for Brain Science and Brain-Inspired Intelligence GuangzhouGuangdong 510515China Key Laboratory of Mental Health of the Ministry of Education Southern Medical UniversityGuangzhouGuangdong 510515China Department of Dermatology Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdong 510515China Department of Neurology Ganzhou Hospital-Nanfang HospitalSouthern Medical UniversityGanzhouJiangxi 341001China

Parkinson’s disease(PD)is a neurodegenerative condition that results in dyskinesia,with oxidative stress playing a pivotal role in its *** peptides may thus present therapeutic potential for *** this study,a novel cathelicidin peptide(Cath-KP;GCSGRFCNLF NNRRPGRLTLIHRPGGDKRTSTGLIYV)was identified from the skin of the Asiatic painted frog(Kaloula pulchra).Structural analysis using circular dichroism and homology modeling revealed a uniqueαββconformation for *** vitro experiments,including free radical scavenging and ferric-reducing antioxidant analyses,confirmed its antioxidant *** the 1-methyl-4-phenylpyridinium ion(MPP^(+))-induced dopamine cell line and 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine(MPTP)-induced PD mice,Cath-KP was found to penetrate cells and reach deep brain tissues,resulting in improved MPP^(+)-induced cell viability and reduced oxidative stress-induced damage by promoting antioxidant enzyme expression and alleviating mitochondrial and intracellular reactive oxygen species accumulation through Sirtuin-1(Sirt1)/Nuclear factor erythroid 2-related factor 2(Nrf2)pathway *** focal adhesion kinase(FAK)and p38 were also identified as regulatory *** the MPTP-induced PD mice,Cath-KP administration increased the number of tyrosine hydroxylase(TH)-positive neurons,restored TH content,and ameliorated *** the best of our knowledge,this study is the first to report on a cathelicidin peptide demonstrating potent antioxidant and neuroprotective properties in a PD model by targeting oxidative *** findings expand the known functions of cathelicidins,and hold promise for the development of therapeutic agents for PD.

关键词： Cath-KP Peptide Parkinson’s disease Oxidative stress Neuroprotection

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Colorectal cancer’s burden attributable to a diet high in processed meat in the Belt and Road Initiative countries

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World Journal of Gastrointestinal Oncology 2024年第1期16卷 182-196页

作者： Gu Liu Chang-Min Li Fei Xie Qi-Lai Li Liang-Yan liao Wen-Jun Jiang Xiao-Pan Li Guan-Ming lu Department of Gastrointestinal Surgery The First Affiliated HospitalJinan UniversityGuangzhou 510630Guangdong ProvinceChina Department of Gastrointestinal Surgery Chenzhou Third People’s HospitalChenzhou 423000Hunan ProvinceChina Department of Gastrointestinal Surgery Chenzhou First People’s Hospital and the First Affiliated Hospital of Xiangnan UniversityChenzhou423000 Hunan ProvinceChina Department of Breast and Thyroid Surgery the Affiliated Hospital of Youjiang Medical University for NationalitiesBaise 533000Guangxi Zhuang Autonomous RegionChina Department of Health Management Center Zhongshan HospitalShanghai Medical College of Fudan UniversityShanghai 200032China

BACKGROUND Colorectal cancer(CRC)plays a significant role in morbidity,mortality,and economic cost in the Belt and Road Initiative(“B and R”)*** addition,these countries have a substantial consumption of processed ***,the burden and trend of CRC in relation to the consumption of a diet high in processed meat(DHPM-CRC)in these“B and R”countries remain *** To analyze the burden and trend of DHPM-CRC in the“B and R”countries from 1990 to *** We used the 2019 Global Burden of Disease Study to collate information regarding the burden of *** and age-standardized rates(ASRs)of deaths along with the disability-adjusted life years(DALYs)were determined among the“B and R”countries in 1990 and *** joinpoint regression analysis,the average annual percent change(AAPC)was used to analyze the temporal trends of age-standardized DALYs rate(ASDALR)from 1990 to 2019 and in the final decade(2010–2019).RESULTS We found geographical differences in the burden of DHPM-CRC among“B and R”countries,with the three highest-ranking countries being the Russian Federation,China,and Ukraine in 1990,and China,the Russian Federation,and Poland in *** burden of DHPM-CRC generally increased in most member countries from 1990 to 2019(all Plute number of deaths and DALYs in DHPM-CRC were 3151.15[95%uncertainty interval(UI)665.74-5696.64]and 83249.31(95%UI 15628.64-151956.31)in China in ***,the number of deaths(2627.57-2528.51)and DALYs(65867.39-55378.65)for DHPM-CRC in the Russian Federation has *** fastest increase in ASDALR for DHPM-CRC was observed in Vietnam,Southeast Asia,with an AAPC value of 3.90%[95%confidence interval(CI):3.63%-4.16%],whereas the fastest decline was observed in Kyrgyzstan,Central Asia,with an AAPC value of-2.05%(95%CI:-2.37%to-1.73%).A substantial upward trend in ASR of mortality,years lived with disability,years of life lost,and DALYs from DHPM-CRC changes in 1990-2019 and the final de

关键词： Belt and Road Initiative countries Colorectal cancer Burden of disease Dietary risk factors Processed meat Disability-adjusted life years Trend analysis

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High-efficiency prediction method for helicopter global/ground noise based on near-field acoustic holography

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Chinese Journal of Aeronautics 2024年第7期37卷 271-284页

作者： Mengxue SHAO Yang lu Xice XU Jiaxin lu National Key Laboratory of Helicopter Aeromechanics Nanjing University of Aeronautics and AstronauticsNanjing 210016China

Noise reduction program design is an effective approach that relies on efficient noise prediction for reducing ground noise during *** existing noise prediction methods have the limitations of being computationally expensive or only applicable to *** this paper,a High-Efficiency Prediction Method(HEPM)for helicopter global/ground noise based on near-field acoustic holography is *** HEPM can predict the global noise based on acoustic modal analysis and has the advantages of high prediction accuracy and low time *** process is given as follows:firstly,the rotor noise on the holographic surface in the specified flight is obtained by simulations or ***,the global noise model,which maps time-domain noise to acoustic modes,is established based on near-field acoustic holography and Fourier acoustic analysis ***,combined with acoustic modal amplitude,the model established enables efficiently predicting the global/ground noise in the corresponding flight *** verify the accuracy of the prediction method,a simulation study is conducted in hovering and forward flight states using a model helicopter with a 2-meter rotor and Rotor Body Interaction(ROBIN)*** comparison of HEPM with numerical results shows that the average prediction errors of the global and ground noise are less than 0.3 dB and 0.2 dB,*** a region containing 100000 observers,the computation time of the HEPM is only one-fifth of that of the acoustic hemisphere method,demonstrating the rapidity of the proposed method.

关键词： Helicopter Rotor noise prediction Noise abatement procedure design Acoustic modal analysis Near-field acoustic holography

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Optical grade (Gd_(0.95-x)lu_(x)Eu_(0.05))_(3)Al_(5)O_(12) ceramics with near-zero optical loss: Effects of lu^(3+) doping on structural feature, microstructure evolution, and far-red luminescence

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Journal of Advanced Ceramics 2024年第1期13卷 113-123页

作者： Zhigang Sun Ji-Guang Li Huiyu Qian Yoshio Sakka Tohru SSuzuki Bin lu School of Materials Science and Chemical Engineering Ningbo UniversityNingbo 315211China Research Center for Electronic and Optical Materials National Institute for Materials ScienceIbaraki 305-0044Japan Key Laboratory of Photoelectric Detection Materials and Devices of Zhejiang Province Ningbo 315211China

A chemical co-precipitation strategy was employed to synthesize a series of(Gd_(0.95−x)lu_(x)Eu_(0.05))_(3)Al_(5)O_(12)(x=0.1−0.95)powder phosphors,followed by vacuum sintering to achieve transparent garnet ceramic *** density functional theory indicated lu_(3)Al_(5)O_(12) was formed in priority compared with Gd_(3)Al_(5)O_(12) during solid-phase *** high-temperature sintering,the lu^(3+)substitution for Gd^(3+)suppressed point mass diffusion leading to a smaller grain *** in-line transmittances of bulk specimens with x=0.1,0.3,0.5,0.7,and 0.95 nm were~83.5%,80.1%,68.8%,73.7%,and 82.2%at 710 nm(Eu^(3+)emission center),respectively,among which the sample of x=0.1 exhibited the optical grade with near-zero optical loss in agreement with the defect-free single crystal(~100%of the theoretical transmittance).The resulting particle and ceramic materials both presented characteristic Eu^(3+)emission arising from 5D0→7FJ(J=1−4)transition,where the dominant far-red emission at~710 nm arising from ^(5)D_(0)→^(7)F_(4) transition overlapped with the absorption of phytochrome(PFR).The photoluminescence excitation and photoluminescence intensities of(Gd_(0.95−x)lu_(x)Eu_(0.05))_(3)Al_(5)O_(12) powders and ceramics generally increased at a higher Gd^(3+)/lu^(3+)***^(3+)dopants delayed the fluorescence lifetime while the bulk samples had shorter lifetime compared to the particle *** transparent(Gd_(0.85)lu_(0.1)Eu_(0.05))3Al_(5)O_(12) ceramic phosphor exhibited good thermal stability with a high thermal quenching temperature above 533 *** designed ceramic phosphor-converted light-emitting diode had a saturation injection current of 435 mA and a current-dependent color rendering *** importantly,our report marked the developmental stage of transparent ceramic materials towards zero optical loss.

关键词： transparent ceramics garnet phosphors light-emitting diode(LED) optical properties Gibbs free energy

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Leech Poecilobdella manillensis protein extract ameliorated hyperuricemia by restoring gut microbiota dysregulation and affecting serum metabolites

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World Journal of Gastroenterology 2024年第29期30卷 3488-3510页

作者： Xia Liu Xing-Qiu Liang Tian-Cai lu Zhe Feng Min Zhang Nan-Qing liao Feng-Lian Zhang Bo Wang Li-Sheng Wang Medical College Guangxi UniversityNanning 530004Guangxi Zhuang Autonomous RegionChina Department of Traditional Chinese Medicine HIV/AIDS Clinical Treatment Center of Guangxi(Nanning)The Fourth People’s Hospital of NanningNanning 530023Guangxi Zhuang Autonomous RegionChina Department of Science and Technology Ruikang Hospital Affiliated to Guangxi University of Chinese MedicineNanning 530011Guangxi Zhuang Autonomous RegionChina General Manager’s Office Guangxi Fuxinyi Biological Technology Co.Ltd.Pingnan 537300Guangxi Zhuang Autonomous RegionChina Department of Joint and Sports Medicine Ruikang Hospital Affiliated to Guangxi University of Chinese MedicineNanning 530011Guangxi Zhuang Autonomous RegionChina Department of Gerontology Nanning Social Welfare HospitalNanning 530004Guangxi Zhuang Autonomous RegionChina

BACKGROUND Hyperuricemia(HUA)is a public health concern that needs to be solved *** lyophilized powder of Poecilobdella manillensis has been shown to significantly alleviate HUA;however,its underlying metabolic regulation remains *** To explore the underlying mechanisms of Poecilobdella manillensis in HUA based on modulation of the gut microbiota and host *** A mouse model of rapid HUA was established using a high-purine diet and potassium oxonate *** mice received oral drugs or ***,16S rRNA sequencing and ultra-high performance liquid chromatography with quadrupole time-of-flight mass spectrometry-based untargeted metabolomics were performed to identify changes in the microbiome and host metabolome,*** levels of uric acid transporters and epithelial tight junction proteins in the renal and intestinal tissues were analyzed using an enzyme-linked immunosorbent *** The protein extract of Poecilobdella manillensis lyophilized powder(49 mg/kg)showed an enhanced anti-trioxypurine ability than that of allopurinol(5 mg/kg)(Pluded the genera of Prevotella,Delftia,Dialister,Akkermansia,Lactococcus,Escherichia_Shigella,Enterococcus,and ***,22 metabolites in the serum were found to be closely related to the anti-trioxypurine activity of Poecilobdella manillensis powder,which correlated to the Kyoto Encyclopedia of Genes and Genomes pathways of cysteine and methionine metabolism,sphingolipid metabolism,galactose metabolism,and phenylalanine,tyrosine,and tryptophan *** analysis found that changes in the gut microbiota were significantly related to these *** The proteins in Poecilobdella manillensis powder were effective for ***,they are associated with improvements in g

关键词： Gut microbiota Metabolism Multi-omics Poecilobdella manillensis Sphingolipid metabolism pathway Galactose metabolism pathway Hyperuricemia

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Creep rupture life predictions for Ni-based single crystal superalloys with automated machine learning

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Rare Metals 2024年第6期43卷 2884-2890页

作者： Chang-lu Zhou Rui-Hao Yuan Wei-Jie liao Ting-Huan Yuan Jiang-Kun Fan Bin Tang Ping-Xiang Zhang Jin-Shan Li Turab Lookman State Key Laboratory of Solidification Processing Northwestern Polytechnical UniversityXi'an 710072China Chongqing Innovation Center Northwestern Polytechnical UniversityChongqing 401120China AiMaterials Research LLC Santa FeNM 87501USA

The state of the art for data-driven creep rupture life predictions incorporates microstructural and deformation characteristics into machine ***,the microstructures and deformation mechanisms for unknown alloys are inaccessible and uncertain before experiments are carried out,and therefore prevents extrapolations of the learned models.

关键词： deformation life creep

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