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Novel MIP gene mutation causes autosomal-dominant congenital cataract

International Journal of Ophthalmology(English edition) 2024年第3期17卷 454-465页

作者： jing-lan ni Hua-Ming Wen Xiao-Sheng Huang Qian-Wen Li Jia-Min Cai Bao-Jian Fan Jun Zhao The Second Clinical Medical College Jinan UniversityShenzhen 518020Guangdong ProvinceChina Department of Ophthalmology Dongguan Chang’an HospitalDongguan 523843Guangdong ProvinceChina Shenzhen Eye Hospital Affiliated to Jinan University Shenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina Department of Oral&Maxillofacial Surgery Shenzhen Stomatology Hospital Affiliated to Shenzhen UniversityShenzhen 518040Guangdong ProvinceChina Department of Neurosurgery Massachusetts General Hospital and Harvard Medical SchoolBoston 02114MassachusettsUSA Department of Ophthalmology Shenzhen People’s Hospital(the Second Clinical Medical CollegeJinan Universitythe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina

●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye *** panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each *** sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation *** effect of sequence changes on protein structure and function was predicted through bioinformatics *** intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage *** embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another ***-silico prediction indicated that the novel mutation might affect the MIP protein *** embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is *** findings expand the genetic spectrum of MIP mutations associated with *** functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.

关键词： congenital cataract major intrinsic protein missense mutation zebrafish model

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Selective photosynthesis of Z-olefins through crystalline metal-organic cage-initiated expeditious cascade reactions

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Carbon Energy 2024年第3期6卷 118-131页

作者： Jia-ni Lu Yunze Huang Yuan-Sheng Xia Long-Zhang Dong Lei Zhang jing-jing Liu lan-Gui Xie Jiang Liu Ya-Qian lan Jiangsu Key Laboratory of New Power Batteries School of Chemistry and Materials ScienceJiangsu Collaborative Innovation Centre of Biomedical Functional MaterialsNanjing Normal UniversityNanjingChina School of Chemistry South China Normal UniversityGuangzhouChina

The semi-hydrogenation of alkyne to form Z-olefins with high conversion and high selectivity is still a huge challenge in the chemical ***,flammable and explosive hydrogen as the common hydrogen source of this reaction increases the cost and danger of industrial ***,we connect the photocatalytic hydrogen evolution reaction and the semihydrogenation reaction of alkynes in series and successfully realize the high selective production of Z-alkenes using low-cost,safe,and green water as the proton *** the cascade reaction,a series of isomorphic metal–organic cage catalysts(Co_(x)Zn_(8−x)L_(6),x=0,3,4,5,and 8)are designed and synthesized to improve the yield of the photocatalytic hydrogen *** them,Co_(5)Zn_(3)L_(6) shows the highest photocatalytic activity,with a H_(2) generation rate of 8.81 mmol g^(−1) h^(−1).Then,Co_(5)Zn_(3)L_(6) is further applied in the above tandem reaction to efficiently reduce alkynes to Z-alkenes under ambient conditions,which can reach high conversion of>98%and high selectivity of>99%,and maintain original catalytic activity after multiple ***“one-pot”tandem reaction can achieve a highly selective and safe stepwise conversion from water into hydrogen into Z-olefins under mild reaction conditions.

关键词： alkyne semi-hydrogenation hydrogen evolution reaction metal-organic cages photocatalysis Z-olefins

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The CBL-interacting protein kinase OsCIPK1 phosphorylated by SAPK10 positively regulates responses to ABA and osmotic stress in rice

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The Crop Journal 2024年第2期12卷 364-374页

作者： Caihua Qin Xing Fan Qianqian Fang lan ni Mingyi Jiang College of Life Sciences State Key Laboratory of Crop Genetics&Germplasm Enhancement and UtilizationKey Laboratory of Crop Physiology Ecology and Production ManagementMinistry of AgricultureNanjing Agricultural UniversityNanjing 210095JiangsuChina

SubclassⅢsucrose nonfermenting1-related protein kinase 2s(SnRK2s)function in ABA and abiotic stress responses by unknown *** found that osmotic stress/ABA-activated protein kinase 10(SAPK10),a member of rice SnRK2s,physically interacted with CBL-interacting protein kinase 1(OsCIPK1).OsCIPK1 expression was up-regulated by ABA and PEG treatment,and overexpression increased the ABA sensitivity of seed germination and root growth and plant osmotic stress *** stress or ABA-induced activation of OsCIPK1 is dependent on ***10 phosphorylates Thr-24 of OsCIPK1 in vitro,and this phosphorylation increases the activity of OsCIPK1 and positively regulates the function of OsCIPK1 in ABA responses and plant osmotic stress *** study suggests that OsCIPK1 is a direct phosphorylated substrate of SAPK10,and SAPK10-mediated phosphorylation of OsCIPK1 functions in ABA signaling and increases rice osmotic stress tolerance.

关键词： Rice ABA Osmotic stress OsCIPK1 SAPK10

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Recent Research Progress of Paper-Based Supercapacitors Based on Cellulose

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Energy & Environmental Materials 2024年第3期7卷 349-377页

作者： Chuanyin Xiong Tianxu Wang jing Han zhao Zhang Yonghao ni College of Bioresources Chemical & Materials Engineering Shaanxi University of Science and Technology School of Materials Science and Engineering Tianjin Polytechnic University Department of Chemical and Biomedical Engineering The University of Maine University of New Brunswick Limerick Pulp & Paper Ctr

In recent years,paper-based functional materials have received extensive attention in the field of energy storage due to their advantages of rich and adjustable porous network structure and good *** an important energy storage device,paper-based supercapacitors have important application prospects in many fields and have also received extensive attention from researchers in recent *** present,researchers have modified and regulated paper-based materials by different means such as structural design and material composition to enhance their electrochemical storage *** development of paper-based supercapacitors provides an important direction for the development of green and sustainable ***,it is of great significance to summarize the relevant work of paper-based supercapacitors for their rapid development and *** this review,the recent research progress of paper-based supercapacitors based on cellulose was summarized in terms of various cellulose-based composites,preparation skills,and electrochemical ***,some opinions on the problems in the development of this field and the future development trend were *** is hoped that this review can provide valuable references and ideas for the rapid development of paperbased energy storage devices.

关键词： cellulose electrochemical performance flexibility paper-based supercapacitor porous

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Interdecadal Variations of ENSO Impacts over the Indo-Northwest Pacific Region and the Related Mechanisms

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Journal of Meteorological Research 2024年第2期38卷 235-248页

作者： Hongxia lan jing MA Haiming XU jingjia LUO Collaborative Innovation Center on Forecast and Evaluation of Meteorological Disasters(CIC-FEMD)/Key Laboratory of Meteorological Disaster Ministry of Education/Joint International Research Laboratory of Climate and Environment Change(KLME/ILCEC)Nanjing University of Information Science&TechnologyNanjing 210044 School of Atmospheric Sciences Nanjing University of Information Science&TechnologyNanjing 210044

Owing to limited observations,it remains unknown whether the impact of El niño-Southern Oscillation(ENSO)on the Indian Ocean-Northwest Pacific(IO-NWP)climate showed decadal changes in the early 20th *** multi-source reanalysis and hindcast datasets from the ECMWF and NOAA extending back to 1901,this study investigates interdecadal variations of the impact of ENSO on the IO-NWP climate from 1901 to *** is found that the influence of ENSO on the IO-NWP climate shows“strong-weak-strong”interdecadal change during *** is characterized by much weaker Indian Ocean sea surface temperature(SST)warming and a weaker NWP subtropical anticyclone(NWPSA)in the following summer of El ni?o during 1946-1967,compared with those in the other two periods(1901-1945 and 1968-2009).Analyses of the datasets indicate that the interdecadal variation is mainly associated with the change in ENSO *** contrast to the period of 1946-1967,a greater SST variance occurred in the central-eastern equatorial Pacific during 1901-1945 and 1968-2009.A stronger El ni?o tends to generate more significant anticyclonic anomalies over the southeast Indian Ocean through *** northwesterly anomalies to the south of the anticyclone weaken the southeast trade winds and warm the south Indian Ocean SST via wind-evaporation-SST feedback,and the positive south Indian Ocean SST anomalies trigger westward-propagating oceanic Rossby waves to induce stronger warming of the southwest Indian Ocean,leading to a significant asymmetric wind pattern across the equator in *** profound northeastward winds on the north side weaken the southwest monsoon,leading to a“second warming”over the north Indian Ocean in summer,which anchors the eastward-propagating warm Kelvin waves and results in a stronger NWPSA by inducing surface divergence and suppressing deep convection.

关键词： ENSO Indo-Northwest Pacific Northwest Pacific subtropical anticyclone decadal changes

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A Knowledge-enhanced Two-stage Generative Framework for Medical Dialogue Information Extraction

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Machine Intelligence Research 2024年第1期21卷 153-168页

作者： Zefa Hu Ziyi ni jing Shi Shuang Xu Bo Xu School of Artificial Intelligence University of Chinese Academy of SciencesBeijing 100049China Institute of Automation Chinese Academy of SciencesBeijing 100190China

This paper focuses on term-status pair extraction from medical dialogues(MD-TSPE),which is essential in diagnosis dia-logue systems and the automatic scribe of electronic medical records(EMRs).In the past few years,works on MD-TSPE have attracted increasing research attention,especially after the remarkable progress made by generative ***,these generative methods output a whole sequence consisting of term-status pairs in one stage and ignore integrating prior knowledge,which demands a deeper un-derstanding to model the relationship between terms and infer the status of each *** paper presents a knowledge-enhanced two-stage generative framework(KTGF)to address the above *** task-specific prompts,we employ a single model to com-plete the MD-TSPE through two phases in a unified generative form:We generate all terms the first and then generate the status of each generated *** this way,the relationship between terms can be learned more effectively from the sequence containing only terms in the first phase,and our designed knowledge-enhanced prompt in the second phase can leverage the category and status candidates of the generated term for status ***,our proposed special status"not mentioned"makes more terms available and en-riches the training data in the second phase,which is critical in the low-resource *** experiments on the Chunyu and CMDD datasets show that the proposed method achieves superior results compared to the state-of-the-art models in the full training and low-re-sourcesettings.

关键词： Medical dialogue understanding information extraction text generation knowledge-enhanced prompt low-resource setting dataaugmentation

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ni-Cu bimetallic alloy anchored on nitrogen-doped carbon nanotubes for CO_(2)-to-CH_(4) electrochemical conversion

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Nano Research 2024年第8期17卷 6922-6930页

作者： jing Li Chuanyong jing Jin Wang School of Environment Beijing Key Laboratory of Aqueous Typical Pollutants Control and Water Quality SafeguardBeijing Jiaotong UniversityBeijing 100044China State Key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085China Tangshan Research Institute Beijing Jiaotong UniversityTangshan 063000China

Electrocatalytic CO_(2) reduction to CH_(4) remains challenging due to multi-electron transfer and intermediates ***,we synthesized electrocatalysts by growing ni-Cu alloy structure on nitrogen-doped carbon nanotubes(nixCuy-NCNT)for electrocatalytic CO_(2) reduction reaction(CO_(2)RR)via hydrothermal method followed by *** optimized ni_(1)Cu_(1)-NCNT demonstrated a superior CO_(2)RR performance,achieving 99.7%FECH_(4)(FE=Faradaic efficiency)and 11.54 mA·cm^(−2) current density at−1.2 V *** hydrogen electrode(RHE),which outperformed single metal *** outstanding performance was due to the electrons transferred from Cu to ni and ni-Cu alloy shifted the d-band center toward the Fermi level,which was more conducive to the intermediate *** situ electrochemical attenuated total reflection(EC-ATR)and density functional theory(DFT)calculations revealed the appearance of *CHO intermediate and the pathway during the CO_(2)RR *** design of the bimetallic electrocatalyst in this study provides a new perspective for the highly selective reduction of CO_(2).

关键词： electrocatalytic CO_(2) reduction ni-Cu alloy nitrogen-doped carbon nanotube(NCNT) electrochemical attenuated total reflection(EC-ATR) density functional theory(DFT)calculations

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Effects of weaning on intestinal longitudinal muscle-myenteric plexus function in piglets

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Science China(Life Sciences) 2024年第2期67卷 379-390页

作者： jing Li Fenfen Liu Kaibin Mo Hengjia ni Yulong Yin Key Laboratory of Agro-Ecological Processes in Subtropical Region Hunan Provincial Key Laboratory of Animal Nutritional Physiology and Metabolic ProcessHunan Research Center of Livestock and Poultry SciencesSouth Central Experimental Station of Animal Nutrition and Feed Science in the Ministry of AgricultureInstitute of Subtropical AgricultureChinese Academy of SciencesChangsha 410125China University of Chinese Academy of Sciences Beijing 100008China Guangdong Key Laboratory for Veterinary Drug Development and Safety Evaluation College of Veterinary MedicineSouth China Agricultural UniversityGuangzhou 510642China

Weaning piglets usually suffer from severe diarrhea(commonly known as postweaning diarrhea,PWD)along with intestinal motility *** peristalsis is mainly regulated by the longitudinal muscle-myenteric plexus(LM-MP).To understand the relationship between intestinal LM-MP function and the development of PWD,we compared the intestinal electrical activity,and the transcriptional profile of the LM-MP between 21-day-old piglets(just weaned,n=7)and 24-day-old piglets(suffered the most severe weaning stress,n=7).The results showed that 24-day-old piglets exhibited different degrees of diarrhea.A significant increase in the slow-wave frequency in the ileum and colon was observed in 24-day-old piglets,while c-kit expression in the intestinal LM-MPs was significantly decreased,indicating that PWD caused by elevated slow-wave frequency may be associated with loss of *** real-time quantitative PCR(RT-q PCR)and enzyme-linked immunosorbent assay(ELISA)showed that intestinal LM-MPs in 24-day-old piglets may undergo inflammation and oxidative *** increases in 8-hydroxy-2′-deoxyguanosine and decreases in thioredoxin suggest that weaning may lead to DNA damage in the LM-MP of 24-day-old *** addition,activating transcription factor 3 was significantly upregulated,indicating nerve damage in the LM-MP of 24-day-old *** transcriptomic results showed that most of the differentially expressed genes in the ileal LM-MP after weaning were downregulated and closely related to the cell cycle *** RT-q PCR analysis showed that the relative expression of p21 was upregulated,while the expression of cyclin A2,cyclin B1,and proliferating cell nuclear antigen was downregulated in the ileal and colonic LM-MP of 24-day-old piglets,suggesting that weaning may inhibit cell proliferation and cause G1/S cell cycle arrest in ileal and colonic *** conclusion,weaning may lead to cell cycle arrest by causing DNA damage in the LM-MP,impairing i

关键词： weaning piglets diarrhea longitudinal muscle-myenteric plexus

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Treatment of acute dacryocystitis by translacrimal canalicular drainage and D-silicone intubation

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International Journal of Ophthalmology(English edition) 2024年第9期17卷 1628-1632页

作者： Jin-jing He jing-Wen Gong Jia-ni Zhou Jin Jiang Center for Rehabilitation Medicine Department of OphthalmologyZhejiang Provincial People’s Hospital(Affiliated People’s Hospital)Hangzhou Medical CollegeHangzhou 310000Zhejiang ProvinceChina Xianju People’s Hospital Zhejiang Southeast Campus of Zhejiang Provincial People’s HospitalAffiliated Xianju’s HospitalHangzhou Medical CollegeTaizhou 317300Zhejiang ProvinceChina

AIM:To demonstrate the outcomes of translacrimal canalicular drainage using a lacrimal probe and intranasal drainage by D-silicone intubation for acute dacryocystitis(AD).METHODS:This retrospective study included 23 patients with AD and had undergone abscess decompression with the use of lacrimal probe and intranasal drainage by D-silicone intubation between January 2019 and December *** received abscess decompression and systemic antibiotic-corticosteroid from the time of diagnosis.D-silicone tube was inserted within 10d after diagnosis and removed 3-6mo after *** procedure and outcomes of this method were ***:All patients showed improvement of signs and symptoms of AD within *** intraoperative and postoperative complications were *** recurrence of lacrimal sac abscesses occurred after D-silicone tube ***:Lacrimal probe and D-silicone intubation appear to be a feasible,minimally invasive,safe,and effective method,which could be a reasonable choice in the treatment of AD.

关键词： acute dacryocystitis treatment translacrimal canalicular drainage D-silicone intubation

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Inhibiting HMGCR represses stemness and metastasis of hepatocellular carcinoma via Hedgehog signaling

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Genes & Diseases 2024年第5期11卷 470-483页

作者： Zhirong Zhang Jiayao Yang Rui Liu jing Ma Kai Wang Xiaojun Wang ni Tang Key Laboratory of Molecular Biology for Infectious Diseases(Ministry of Education) Institute for Viral HepatitisDepartment of Infectious DiseasesThe Second Affiliated HospitalChongqing Medical UniversityChongqing 400016China Institute of Hepatobiliary Surgery Southwest HospitalThird Military Medical University(Army Medical University)Chongqing 400038China

Cancer stem cells(CSCs)play a crucial role in tumor initiation,recurrence,metastasis,and drug ***,the current understanding of CSCs in hepatocellular carcinoma(HCC)remains *** a comprehensive analysis of the database,it has been observed that 3-hydroxy-3-methylglutaryl-coenzyme A reductase(HMGCR),a critical enzyme involved in cholesterol synthesis,is up-regulated in HCC tissues and liver ***,high expression of HMGCR is associated with a poor prognosis in patients with ***,HMGCR promotes the stemness and metastasis of HCC both in vitro and in *** screening various signaling pathway inhibitors,we have determined that HMGCR regulates stemness and metastasis by activating the Hedgehog signaling in ***,HMGCR positively correlates with the expression of the Smoothened receptor and facilitates the nuclear translocation of the transcriptional activator GLI family zinc finger *** of the Hedgehog pathway can reverse the stimulatory effects of HMGCR on stemness and metastasis in ***,simvastatin,an FDA-approved cholesterol-lowering drug,has been shown to inhibit stemness and metastasis of HCC by targeting *** together,our findings suggest that HMGCR promotes the regeneration and metastasis of HCC through the activation of Hedgehog signaling,and simvastatin holds the potential for clinical suppression of HCC metastasis.

关键词： Cancer stem cells Hedgehog Hepatocellular carcinoma Metastasis Statin

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