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Functional characterization of Bmcap in uric acid metabolism in the silkworm

Insect Science 2024年第1期31卷 147-156页

作者： Linmeng Tang Dehong Yang Zhiwei Liu Yaohui Wang Xu Yang Yujia Liu Dongbin Chen Zheng Tang Yongping Huang Key Laboratory of Insect Developmental and Evolutionary Biology Center for Excellence in Molecular Plant SciencesShanghai Institute of Plant Physiology and EcologyChinese Academy of SciencesShanghaiChina CAS Center for Excellence in Biotic Interactions University of Chinese Academy of SciencesBeijingChina Central Research Institute Shanghai Pharmaceuticals Holding Co.Ltd.ShanghaiChina Departments of Neonatology International Peace Maternity and Child Health Hospital of China Welfare InstitutionSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

After a millennium of domestication,numerous silkworm mutants have emerged that exhibit transparent epidermis,which is caused by abnormally low levels of uric *** identified the Bombyx mori gene Bmcap(BMSK0003832)as the homolog of cappuccino,a subunit of the biogenesis of lysosome-related organelles complex-1(BLOC-1)that has been extensively characterized in human,mouse,and insect species,by analyzing the amino acid sequences of putative purine metabolism *** the clustered regularly interspaced palindromic repeats(CRISPR)/CRISPR-associated protein 9 system,we disrupted Bmcap,resulting in decreased uric acid levels in the silkworm epidermis and a translucent skin *** the Bmcap mutant,the purine metabolism,nitrogen metabolism,pyrimidine metabolism,and membrane system were altered compared to the wild *** of lysosome-related organelle complex genes play a role in the pigmentation and biogenesis of lysosome-related organelles(LROs)in platelets,melanocytes,and *** exhibit unique morphologies and functions in various tissues and *** of the Bmcap mutant will enhance our understanding of the uric acid metabolic pathway in silkworms,and this mutant offers a valuable silkworm model for LRO studies.

关键词： BLOC-1 subunit Bombyx mori cappuccino translucent mutation uric acid

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Untargeted metabolomic profiling， nutritional composition and enzyme changes on Bigeye tuna(Thunnus obesus) during cold storage by HPLC-MS coupled with logistic regression

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Food Science and Human Wellness 2024年

作者： Xin-Yun Wang Zi-Xuan Zhao Jun Yan Jing Xie Shanghai Engineering Research Center of Aquatic Product Processing & Preservation， Shanghai Ocean University The international Peace Maternity and child Health Hospital， School of Medicine， Shanghai Jiao Tong University National Experimental Teaching Demonstration Center for Food Science and Engineering， Shanghai Ocean University College of Food Science & Technology， Shanghai Ocean University

Bigeye tuna is a protein-rich fish that is susceptible to spoilage during cold storage， however， there is limited information on untargeted metabolomic profiling of bigeye tuna concerning spoilage-associated enzymes and metabolites. This study aimed to investigate how cold storage affects enzyme activities， nutrient composition， tissue microstructures and spoilage metabolites of bigeye tuna. The activities of cathepsin B， H， L increased， while Na+/K+-ATPase and Mg2＋-ATPase decreased， α-glucosidase （AG） and β-1，4-N-acetylglucosaminidase （NAG）， lipase and lipoxygenase first increased and then decreased during cold storage， suggesting that proteins undergo degradation and ATP metabolism occurs at a faster rate during cold storage. Nutrient composition （moisture， protein， and lipid content）， free amino acids， total amino acids decreased， suggesting that the nutritional value of bigeye tuna was reduced. Besides， a logistic regression equation has been established as a food analysis tool and assess the dynamics and correlation of the enzyme of bigeye tuna during cold storage. Based on untargeted metabolomic profiling analysis， a total of 484 metabolites were identified as significantly differential metabolites in the bigeye tuna contained several spoilage metabolites involved in lipid metabolism （1-Acyl-sn-glycero-3phosphocholine， Glycerophosphocholine， Choline phosphate）， amino acid metabolism (L-Histidine， 5-Deoxy-5'-（methylthio）adenosine， 5-Methylthioadenosine)， carbohydrate metabolism （D-Gluconicacid， beta-D-Fructose 1，6-bisphosphate， D-Glyceraldehyde 3-phosphate）. The results of tissue microstructures of tuna showed a looser network and visible deterioration of tissue fiber during cold storage. Therefore， metabolomic analysis and tissue microstructures provide insight into the spoilage mechanism investigations on bigeye tuna during cold storage.

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Simultaneously quantifying hundreds of acylcarnitines in multiple biological matrices within ten minutes using ultrahigh-performance liquid-chromatography and tandem mass spectrometry

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Journal of Pharmaceutical Analysis 2024年第1期14卷 140-148页

作者： Jingxian Zhang Qinsheng Chen Lianglong Zhang Biru Shi Men Yu Qingxia Huang Huiru Tang State Key Laboratory of Genetic Engineering School of Life SciencesHuman Phenome InstituteZhangjiang Fudan International Innovation CenterMetabonomics and Systems Biology Laboratory at Shanghai International Centre for Molecular PhenomicsZhongshan HospitalFudan UniversityShanghai200032China Wuhan Laboratory for Shanghai Metabolome Institute(SMI)Ltd. Wuhan430000China

Acylcarnitines are metabolic intermediates of fatty acids and branched-chain amino acids having vital biofunctions and pathophysiological significances. Here, we developed a high-throughput method for quantifying hundreds of acylcarnitines in one run using ultrahigh performance liquid chromatography and tandem mass spectrometry (UPLC-MS/MS). This enabled simultaneous quantification of 1136 acylcarnitines (C0–C26) within 10-min with good sensitivity (limit of detection 0.992), accuracy (relative error 0.998) for predicting retention time (tR) of acylcarnitines with no standards and built a database of their multiple reaction monitoring parameters (tR, ion-pairs, and collision energy). Furthermore, we quantified 514 acylcarnitines in human plasma and urine, mouse kidney, liver, heart, lung, and muscle. This provides a rapid method for quantifying acylcarnitines in multiple biological matrices.

关键词： Acylcarnitine UPLC-MS/MS Quantitative structure-retention relationship Molecular phenotype

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Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice

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Science China(Life Sciences) 2024年第7期67卷 1325-1337页

作者： Chengcheng Song Yingying Qin Yan Li Bingyi Yang Ting Guo Wenqing Ma Dian Xu Keyan Xu Fangfang Fu Li Jin Yanhua Wu Shuyan Tang Xiaojun Chen Feng Zhang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Medical Genetics and GenomicsFudan UniversityShanghai 200011China Human Phenome Institute Zhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China Center for Reproductive Medicine Cheeloo College of MedicineShandong UniversityJinan 250021China State Key Laboratory of Reproductive Medicine and Offspring Health Key Laboratory of Reproductive Endocrinology of Ministry of EducationNational Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong Key Laboratory of Reproductive MedicineShandong Provincial Clinical Research Center for Reproductive HealthShandong UniversityJinan 250021China Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China National Demonstration Center for Experimental Biology Education School of Life SciencesFudan UniversityShanghai 200433China Department of Gynecology the Tenth People’s Hospital of Tongji UniversityShanghai 200072China Soong Ching Ling Institute of Maternity and child Health International Peace Maternity and Child Health Hospital of China Welfare InstituteShanghai 200030China

Premature ovarian insufficiency(POI)is a heterogeneous female disorder characterized by the loss of ovarian function before the age of *** represents a significant detriment to female ***,the known POI-causative genes currently account for only a fraction of *** elucidate the genetic factors underlying POI,we conducted whole-exome sequencing on a family with three fertile POI patients and identified a deleterious missense variant in *** a subsequent replication study involving 1,030 POI patients,this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 *** variants collectively account for eight cases,representing 0.78%of the study cohort.A further study involving 500 patients with diminished ovarian reserve also identified two additional RNF111 ***,RNF111 encodes an E3 ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling *** analysis revealed that RNF111/RNF111 is predominantly expressed in the oocytes of mice,monkeys,and *** further investigate the functional implications of RNF111 variants,we generated two mouse models:one with a heterozygous missense mutation(Rnf111+/M)and another with a heterozygous null mutation(Rnf111^(+/-)).Both mouse models exhibited impaired female fertility,characterized by reduced litter sizes and small ovarian ***,RNA-seq and quantitative proteomics analysis unveiled that Rnf111 haploinsufficiency led to dysregulation in female gonad development and negative regulation of the BMP signaling pathway within mouse *** conclusion,our findings strongly suggest that monoallelic deleterious variants in RNF111 can impair female fertility and induce POI in both humans and mice.

关键词： POI RNF111 female fertility ovarian reserve

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游泳短纤维鼻滴剂用于鼻脑药物传递

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Science Bulletin 2024年第14期69卷 2153-2155页

作者：徐臆茹丁涛陈信良 The international Peace Maternity and child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China Department of Orthopaedics Shanghai Key Laboratory for Prevention and Treatment of Bone and Joint DiseasesShanghai Institute of Traumatology and OrthopaedicsRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China

The brain,the most vital and intricate organ in the human body,governs neural *** within the brain is protected by the blood–brain barrier(BBB),a unique and highly regulated semi-permeable membrane[1].Due to the BBB obstruction,traditional drug delivery methods,such as oral administration or intravenous injection,often fail to efficiently deliver drugs to the brain[2].

关键词：药物传递 drugs injection

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A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder:A case study

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Genes & Diseases 2024年第4期11卷 13-15页

作者： Songchang Chen Li Wanng Luting Chen Weihui Shi Junyu Zhang Yuting Hu Yinyu Wang Li Jin Jianzhong Sheng Feng Zhang Yanting Wu Hefeng Huang Chenming Xu Obstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200090China The international Peace Maternity and child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Research Units of Embryo Original Diseases Chinese Academy of Medical SciencesShanghai 200030China Key Laboratory of Reproductive Genetics(Ministry of Education) Department of Reproductive EndocrinologyWomen's HospitalZhejiang University School of MedicineHangzhouZhejiang 310058China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China Shanghai First Maternity and Infant Hospital Tongji University School of MedicineShanghai 200030China

Preimplantation genetic testing(PGT)is a precise and effective technique for detecting inherited pathogenic mutations to prevent birth ***,there are few reports on PGT for pseudo-autosomal genetic diseases.

关键词： implantation testing precise

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An emerging antibacterial nanovaccine for enhanced chemotherapy by selectively eliminating tumor-colonizing bacteria

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Science Bulletin 2024年第16期69卷 2565-2579页

作者： Linfu Chen Zheyu Kang Jingjing Shen Rui Zhao Yu Miao Lin Zhang Zixuan Zheng Zhemin Zhang Nanhui Liu Cheng Wang Huapan Fang Jun Zhou Yudong Wang Zhuang Liu Yang Yang Qian Chen Institute of Functional Nano&Soft Materials(FUNSOM) Jiangsu Key Laboratory for Carbon-Based Functional Materials&DevicesSoochow UniversitySuzhou 215123China Department of Gynecologic Oncology The International Peace Maternity and Child Health HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200030China Department of Thoracic Surgery Shanghai Pulmonary HospitalTongji University School of MedicineShanghai 200433China

Fusobacterium nucleatum(***),an oral anaerobe,is prevalent in colorectal cancer and is closely related to increased cancer cell growth,metastasis,and poor treatment *** vaccines capable of selectively eliminating bacteria present a promising approach to targeting intratumor ***,thereby enhancing cancer *** adjuvants have been employed to enhance the immune response,the vaccine’s effectiveness is constrained by inadequate T-cell activation necessary for eradicating intracellular *** this study,we developed a minimalistic,biomimetic nanovaccine by integrating highly immunostimulatory adjuvant cholesterol-modified CpG oligonucleotides into the autologously derived *** *** to the traditional vaccines consisting of inactivated bacteria and Alum adjuvant,the nanovaccine coupled with bacterial membranes and adjuvants could remarkably improve multiple antigens and adjuvant co-delivery to dendritic cells,maximizing their ability to achieve effective antigen presentation and strong downstream immune ***,the nanovaccine exhibits outstanding selective prophylactic and therapeutic effects,eliminating *** without affecting intratumoral and gut *** significantly enhances chemotherapy efficacy and reduces cancer metastasis in ***-infected colorectal ***,this work represents the rational application of bacterial nanovaccine and provides a blueprint for future development in enhancing the antitumor effect against bacterial-infected cancer.

关键词： Fusobacterium nucleatum Bacterial vaccine Colorectal cancer Biomimetic nanomedicine Chemotherapy

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Perioperative complication incidence and risk factors for retroperitoneal neuroblastoma in children:analysis of 571 patients

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World Journal of Pediatrics 2024年第3期20卷 250-258页

作者： Min He Jia-Bin Cai Xuan Wu Yin-Bing Tang Jin-Yan Wang Jun-Qin Mao Ji-Jun Chen Li-Feng Zhang Zhong-Hai Guan Jie-Ni Xiong Wan-Xin Peng Jin-Hu Wang Ting Tao Pediatric Cancer Research Center National Clinical Research Center for Child HealthHangzhouChina Department of Surgical Oncology Children's HospitalZhejiang University School of MedicineHangzhouChina Cancer Center Zhejiang UniversityNo.3333 Binsheng RodeHangzhouChina

Background Surgery plays an important role in the treatment of *** complications may impact the course of neuroblastoma *** date,comprehensive analyses of complications and risk factors have been *** Patients with retroperitoneal neuroblastoma undergoing tumor resection were retrospectively analyzed between 2014 and *** data collected included clinical characteristics,operative details,operative complications and postopera-tive *** factors for perioperative complications of retroperitoneal neuroblastoma were *** A total of 571 patients were enrolled in this *** complications were observed in 255(44.7%)*** leakage(28.4%),diarrhea(13.5%),and injury(vascular,nerve and organ;7.5%)were the most frequent *** were three operation-related deaths(0.53%):massive hemorrhage(n=1),biliary tract perforation(n=1)and intestinal necrosis(n=1).The presence of image-defined risk factors(IDRFs)[odds ratio(OR)=2.09,Pinternational Neuroblastoma Risk Group staging system(INRGSS)(OR=0.454,P=0.04),retroperitoneal lymph node metastasis(OR=2.433,P=0.026),superior mesenteric artery encasement(OR=3.346,P=0.003),and inferior mesenteric artery encasement(OR=2.218,P=0.019)were identified as independent risk factors for perioperative *** Despite the high incidence of perioperative complications,the associated mortality rate was quite ***-perative complications of retroperitoneal neuroblastoma were associated with IDRFs,INRGSS,retroperitoneal lymph node metastasis and vascular *** with high-risk factors should receive more serious attention during surgery but should not discourage the determination to pursue total resection of neuroblastoma.

关键词： Complication Neuroblastoma Risk factors Surgery

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DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Congenital heart Diseases

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Congenital heart Disease 2024年第2期19卷 247-256页

作者： Shuliang Xia Huikang Tao Shixin Su Xinxin Chen Li Ma Jianru Li Bei Gao Xumei Liu Lei Pi Jinqing Feng Fengxiang Li Jia Li Zhiwei Zhang Guangdong Provincial People’s Hospital Southern Medical UniversityGuangzhou510100China Department of Cardiovascular Surgery Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhou510623China Department of Pediatric Cardiology Guangdong Cardiovascular InstituteGuangdong Provincial Key Laboratory of South China Structural Heart DiseaseGuangzhou510100China Clinical Physiology Laboratory Institute of PediatricsGuangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangdong Provincial Key Laboratory of Research in Structural Birth Defect DiseaseGuangzhou510623China Department of Echocardiogram Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhou510623China Department of Pediatrics Washington University School of MedicineSt.LouisMO63130USA Clinical Biological Resource Bank of Guangzhou Women and children’s Medical Center Guangzhou Medical UniversityGuangzhou510623China

Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little ***(MZ)twins with CHD provide a unique model for exploring this *** order to investigate the potential role of Deoxyribonucleic Acid(DNA)methyla-tion in CHD pathogenesis,the present study examined DNA methylation variation in MZ twins discordant for CHD,especially ventricular septal defect(VSD).Methods and Results:Using genome-wide DNA methylation profiles,we identified 4004 differentially methylated regions(DMRs)in 18 MZ twin pairs discordant for CHD,and 2826 genes were *** Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis revealed a list of CHD-associated *** further investigate the role of DNA methylation in VSD,data from 7 pairs of MZ twins with VSD were *** identified 1614 DMRs corresponding to 1443 genes associated with arrhythmogenic right ventricular cardiomyopathy,cyclic guanosine monopho-sphate-protein kinase G(cGMP-PKG)signaling pathway by KEGG analysis,and cell-cell adhesion,calcium ion transmembrane transport by GO analysis.A proportion of DMR-associated genes were involved in calcium signaling *** methylation changes of calcium signaling genes might be related to VSD ***:CHD is associated with differential DNA methylation in MZ *** may be etiologically linked to DNA methylation,and methylation of calcium signaling genes may be involved in the development of VSD.

关键词： Congenital heart disease monozygotic twins methylation modification epigenetics

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Changes of the peripapillary vascular parameters inpremature infants without retinopathy of prematurityusing U-net segmentation

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international Journal of Ophthalmology(English edition) 2024年第8期17卷 1453-1461页

作者： Shuai Liu Lei Liu Cui-Xia Ma Liu-Hui Huang Bin Li School of Information Science and Technology University of Science and Technology of ChinaHefei 230022Anhui ProvinceChina Zhejiang Lab Hangzhou 311121Zhejiang ProvinceChina Eye Institute Affiliated Hospital of Nantong UniversityMedical School of Nantong UniversityNantong 226006Jiangsu ProvinceChina Anhui Province Maternity and child Health Hospital Maternity and Child Health Hospital Affiliated to Anhui Medical UniversityHefei 230001Anhui ProvinceChina Department of Ophthalmology Tenth People’s Hospital Affiliated with Shanghai Tongji University School of MedicineShanghai 200072China

AIM:To quantitatively assess the changes in mean vascular tortuosity(mVT)and mean vascular width(mVW)around the optic disc and their correlation with gestational age(GA)and birth weight(BW)in premature infants without retinopathy of prematurity(ROP).METHODS:A single-center retrospective study included a total of 133(133 eyes)premature infants[mean corrected gestational age(CGA)43.6wk]without ROP as the premature group and 130(130 eyes)CGA-matched fullterm infants as the control *** peripapillary mVT and mVW were quantitatively measured using computerassisted ***:Premature infants had significantly higher mVT(P=0.0032)and lower mVW(P=0.0086)by 2.68(10^(4) cm^(-3))and 1.85μm,*** analysis with GA showed significant differences(P=0.0244)in mVT between the early preterm and middle to late preterm groups,but the differences between mVW were not significant(P=0.6652).The results of the multiple linear regression model showed a significant negative correlation between GA and BW with mVT after adjusting sex and CGA(P=0.0211 and P=0.0006,respectively).For each day increase in GA at birth,mVT decreased by 0.1281(10^(4) cm^(-3))and for each 1 g increase in BW,mVT decreased by 0.006(10^(4) cm^(-3)).However,GA(P=0.9402)and BW(P=0.7275)were not significantly correlated with ***:Preterm birth significantly affects the peripapillary vascular parameters that indicate higher mVT and narrower mVW in premature infants without *** in these parameters may provide new insights into the pathogenesis of ocular vascular disease.

关键词： premature infants retinopathy of prematurity retinal vessels parameter computer-assisted techniques

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