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Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease

中华医学杂志(英文版) 2024年第15期137卷 2024 Jul 8页

作者： Gao Han Huang Xianghui Chen Weicheng Feng Zhiyu Zhao Zhengshan Li Ping Tan Chaozhong Wang Jinxin Zhuang Quannan Gao Yuan Min Shaojie Yao Qinyu Qian Maoxiang Ma Xiaojing Wu Feizhen Yan Weili Sheng Wei Huang Guoying Children’s Hospital of Fudan University Shanghai China Shanghai Key Laboratory of Birth Defects Shanghai China Fujian Key Laboratory of Neonatal Diseases Xiamen Children’s Hospital Xiamen Fujian China research Unit of Early intervention of Genetically Related Childhood Cardiovascular Diseases Chinese Academy of Medical Sciences Shanghai China

Background: Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/***: Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, andPNPLA4 was identified as the leading candidate gene. To validate, we generatedPNPLA4-overexpressing human induced pluripotent stem cell lines as well aspnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular ***: Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, andPNPLA4 in the Xp22.31 was a candidate gene associated with HTX/***4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series ofin vivo andin vitro analyses at the molecular and cellular levels, we revealed that the biological function ofPNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP ***: Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose ofPNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.

关键词： PNPLA4 Copy number variations X-chromosome Heterotaxy Congenital heart diseases

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Neddylation is a novel therapeutic target for lupus by regulating double negative T cell homeostasis

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Signal Transduction and Targeted Therapy 2024年第2期9卷 738-750页

作者： Yun Zhang Lijun Du Chenxi Wang Zhangsheng Jiang Qingchi Duan Yiping Li Zhijun Xie Zhixing He Yi Sun Lin Huang Liwei Lu Chengping Wen Key Laboratory of Chinese medicine rheumatology of Zhejiang Province Research Institute of Chinese Medical Clinical Foundation and ImmunologyCollege of Basic Medical ScienceZhejiang Chinese Medical UniversityHangzhou 310053China Department of General Surgery Sir Run Run Shaw HospitalZhejiang University School of MedicineHangzhou 310016China Cancer Institute(Key Laboratory of Cancer Prevention and intervention China National Ministry of Education)of the Second Affiliated Hospital and Institute of Translational MedicineZhejiang University School of MedicineHangzhou 310029China Cancer Center of Zhejiang University Hangzhou 310029China Department of Pathology and Shenzhen Institute of research and Innovation The University of Hong KongHong KongChina Chongqing International Institute for Immunology Chongqing 400038China

Systemic lupus erythematosus(SLE),a severe autoimmune disorder,is characterized by systemic inflammatory response,autoantibody accumulation and damage to *** dysregulation of double-negative(DN)T cells is considered as a crucial commander during ***,a significant type of protein post-translational modification(PTM),has been well-proved to regulate T cell-mediated immune ***,the function of neddylation in SLE is still ***,we reported that neddylation inactivation with MLN4924,a specific inhibitor of NEDD8-activating enzyme E1(NAE1),or genetic abrogation of Ube2m in T cells decreased DN T cell accumulation and attenuated murine lupus *** investigations revealed that inactivation of neddylation blocked Bim ubiquitination degradation and maintained Bim level in DN T cells,contributing to the apoptosis of the accumulated DN T cells in lupus *** double knockout(KO)lupus-prone mice(Ube2m-/-Bim-/-lpr)were generated and results showed that loss of Bim reduced Ube2m deficiency-induced apoptosis in DN T cells and reversed the alleviated lupus *** findings identified that neddylation inactivation promoted Bim-mediated DN T cell apoptosis and attenuated lupus ***,we also found that in SLE patients,the proportion of DN T cells was raised and their apoptosis was ***,compared to healthy groups,SLE patients exhibited decreased Bim levels and elevated Cullin1 neddylation ***,the inhibition of neddylation induced Bim-dependent apoptosis of DN T cells isolated from SLE ***,our findings provide the direct evidence about the function of neddylation during lupus,suggesting a promising therapeutic approach for this disease.

关键词： inactivation double finding

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Modelling the development of biological structures displaying longitudinal geometries in vitro:culturing pluripotent stem cells on plasma-treated,growth factor-coupled polycaprolactone fibres

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Engineered Regeneration 2024年第1期5卷 124-138页

作者： Badwi B.Boumelhem Stuart T.Fraser Syamak Farajikhah Rachel A.Shparberg Michael B.Morris Marcela M.M.Bilek Anyu Zhang Behnam Akhavan Simon Fleming Maryanne Large School of Physics Faculty of ScienceUniversity of SydneyAustralia Sydney Nano Institute University of SydneyAustralia School of Chemical and biomolecular Engineering University of SydneyAustralia School of Medical Sciences Faculty of Medicine and HealthUniversity of SydneyAustralia School of Biomedical Engineering Faculty of EngineeringUniversity of SydneyAustralia School of Engineering University of NewcastleCallaghanNSW 2308Australia Hunter Medical research Institute(HMRI) Precision Medicine ProgramNew Lambton Heights NSW 2305Australia

Many biological structures such as nerves,blood and lymphatic vessels,and muscle fibres exhibit longitudinal ge-ometries with distinct cell types extending along both the length and width of internal linear *** these three-dimensional structures in vitro is challenging:the best-defined stem-cell differentiation systems are mono-layer cultures or organoids using pluripotent stem *** stem cells can differentiate into functionally mature cells depending on the signals received,holding great promise for regenerative ***,the integration of in vitro differentiated cell types into diseased tissue remains a *** scaffolds can bridge this gap if the appropriate signalling systems are incorporated into the ***,we have taken a biomimicry approach to generate longitudinal structures in *** this approach,mouse embryonic stem cells are directed to differentiate to specific cell types on the surface of polycaprolactone(PCL)fibres treated by plasma-immersion ion implantation and to which with lineage-specifying molecules have been covalently *** demonstrate the simplicity and utility of our method for efficiently generating high yields of the following cell types from these pluripotent stem cells:neurons,vascular endothelial cells,osteoclasts,adipocytes,and cells of the erythroid,myeloid,and lymphoid *** arranged plasma-treated scaffolds with differentiated cell types could ultimately serve as a means for the repair or treatment of diseased or damaged tissue.

关键词： Pluripotent stem cells Lineage commitment Growth factors Biomaterial engineering Plasma-immersion ion implantation Covalent biomolecule attachment Polycaprolactone

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Synthesis and Properties of Ferrocene Conjugated Macrocycles with Illusory Topology of the Penrose Stairs

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Chemical research in Chinese Universities 2024年第5期40卷 881-886页

作者： XU Jindong LAN Bin ZHU Lingyun XU Hui CHEN Xinyu LI Wenjuan YUAN Yaofeng YAN Jianfeng LI Yuanming Key Laboratory of Molecule Synthesis and Function Discovery(Fujian Province University) College of ChemistryFuzhou UniversityFuzhou350108P.R.China Henan Key Laboratory of biomolecular Recognition and Sensing College of Chemistry and Chemical EngineeringShangqiu Normal UniversityShangqiu476000P.R.China

Polyferrocene macrocycles hold immense potential in the fields of molecular electronics and electrochemistry,primarily due to their multiple metal ***,developing highly efficient synthetic strategies for constructing these rings remains a significant *** this study,we successfully synthesized triferrocenyl macrocycles using Pt-mediated coupling strategy and determined their configuration using single-crystal X-ray diffraction analysis,revealing a structure reminiscent of the Penrose *** comprehensively investigated the macrocycle’s structure,photophysical properties,and employed density functional theory(DFT)calculations to gain further ***,this macrocycle exhibits several advantageous features,including a flexible structure,good solubility,and a highly efficient synthetic pathway.

关键词： Conjugated macrocycle Organometallic macrocycle Pt-template method

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Direct 4D printing of functionally graded hydrogel networks for biodegradable,untethered,and multimorphic soft robots

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International Journal of Extreme Manufacturing 2024年第2期6卷 407-416页

作者： Soo Young Cho Dong Hae Ho Sae Byeok Jo Jeong Ho Cho Department of Chemical and biomolecular Engineering Yonsei UniversitySeoul 03722Republic of Korea Department of Mechanical Engineering Virginia TechBlacksburgVA 24061United States of America School of Chemical Engineering Sungkyunkwan UniversitySuwon 16419Republic of Korea SKKU Institute of Energy Science and Technology(SIEST) Sungkyunkwan UniversitySuwon 16419Republic of Korea

Recent advances in functionally graded additive manufacturing(FGAM)technology have enabled the seamless hybridization of multiple functionalities in a single *** robotics can become one of the largest beneficiaries of these advances,through the design of a facile four-dimensional(4D)FGAM process that can grant an intelligent stimuli-responsive mechanical functionality to the printed ***,we present a simple binder jetting approach for the 4D printing of functionally graded porous multi-materials(FGMM)by introducing rationally designed graded multiphase feeder *** graded cross-linking agents gradually form stable porous network structures within aqueous polymer particles,enabling programmable hygroscopic deformation without complex mechanical ***,a systematic bed design incorporating additional functional agents enables a multi-stimuli-responsive and untethered soft robot with stark stimulus *** biodegradability of the proposed 4D-printed soft robot further ensures the sustainability of our approach,with immediate degradation rates of 96.6%within 72 *** proposed 4D printing concept for FGMMs can create new opportunities for intelligent and sustainable additive manufacturing in soft robotics.

关键词： intelligent and sustainable additive manufacturing multi-material four-dimensional printing untethered soft robot multi-stimuli-responsive soft robot biodegradable soft robotics

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Dietary supplementation of zinc oxide modulates intestinal functionality during the post-weaning period in clinically healthy piglets

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Journal of Animal Science and Biotechnology 2024年第1期15卷 313-328页

作者： Dirkjan Schokker Soumya K.Kar Els Willems Alex Bossers Ruud A.Dekker Alfons J.M.Jansman Wageningen Bioveterinary research LelystadThe Netherlands Wageningen Livestock research Wageningen University&ResearchWageningenThe Netherlands Royal Agrifirm Group ApeldoornThe Netherlands Institute for Risk Assessment Sciences Utrecht UniversityUtrechtThe Netherlands

Background To improve our understanding of host and intestinal microbiome interaction,this research investigated the effects of a high-level zinc oxide in the diet as model intervention on the intestinal microbiome and small intestinal functionality in clinically healthy post-weaning *** study 1,piglets received either a high concentration of zinc(Zn)as zinc oxide(Zn O,Zn,2,690 mg/kg)or a low Zn concentration(100 mg/kg)in the diet during the post weaning period(d 14–23).The effects on the piglet's small intestinal microbiome and functionality of intestinal tissue were *** study 2,the impact of timing of the dietary zinc intervention was investigated,i.e.,between d 0–14 and/or d 14–23 post weaning,and the consecutive effects on the piglet's intestinal functionality,here referring to microbiota composition and diversity and gene expression *** Differences in the small intestinal functionality were observed during the post weaning period between piglets receiving a diet with a low or high concentration Zn O content.A shift in the microbiota composition in the small intestine was observed that could be characterized as a non-pathological change,where mainly the commensals *** the immediate post weaning period,i.e.,d 0–14,the highest number of differentially expressed genes(DEGs)in intestinal tissue were observed between animals receiving a diet with a low or high concentration Zn O content,i.e.,23 DEGs in jejunal tissue and 11 DEGs in ileal *** genes are involved in biological processes related to immunity and inflammatory *** example,genes CD59 and REG3G were downregulated in the animals receiving a diet with a high concentration Zn O content compared to low Zn O content in both jejunum and ileum *** the second study,a similar result was obtained regarding the expression of genes in intestinal tissue related to immune pathways when comparing piglets receiving a diet with a high concentration Zn O con

关键词： Immune system Intestinal functionality Microbiota Piglets Zinc oxide

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Ruthenium-lead oxide for acidic oxygen evolution reaction in proton exchange membrane water electrolysis

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Nano research 2024年第10期17卷 8671-8677页

作者： Feng-Yang Chen Chang Qiu Zhen-Yu Wu Tae-Ung Wi YZou Finfrock Haotian Wang Department of Chemical and biomolecular Engineering Rice UniversityHoustonTX 77005USA Structural Biology Center X-ray Science DivisionArgonne National LaboratoryLemontIL 60439USA Department of Materials Science and NanoEngineering Rice UniversityHoustonTX 77005USA Department of Chemistry Rice UniversityHoustonTX 77005USA

Developing an active and stable anode catalyst for the proton exchange membrane water electrolyzer(PEM-WE)is a critical objective to enhance the economic viability of green hydrogen ***,the expensive iridium-based electrocatalyst remains the sole practical material with industrial-level stability for the acidic oxygen evolution reaction(OER)at the ***-based catalysts have been proposed as more cost-effective alternatives with improved activity,though their stability requires *** current urgent goal is to reduce costs and noble metal loading of the OER catalyst while maintaining robust activity and *** this study,we design a Ru-based OER catalyst incorporating Pb as a supporting *** electrocatalyst exhibits an OER overpotential of 201 mV at 10 mA·cm^(-2),simultaneously reducing Ru noble metal loading by~40%.Normalization of the electrochemically active surface area unveils improved intrinsic activity compared to the pristine RuO_(2) *** a practical stability test in a PEM-WE setup,our developed catalyst sustains stable performance over 300 h without notable degradation,underscoring its potential for future applications as a reliable anodic catalyst.

关键词： electrocatalysis oxygen evolution reaction water splitting proton exchange membrane water electrolyzer

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Extracorporeal membrane oxygenation states basilar artery thrombectomy and left posterior cerebral artery stent thrombectomy:A case report

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World Journal of Clinical Cases 2024年第18期12卷 3589-3595页

作者： Li-Shan Ding Hao Liang Ming Zheng Meng Shen Zhao-Jun Li Rui-Peng Song Qing-Liang Chen Department of Radioactive intervention Henan University of Traditional Chinese MedicineZhengzhou 450099Henan ProvinceChina Department of Radioactive intervention Henan No.3 Provincial People’s HospitalZhengzhou 450006Henan ProvinceChina Department of Endocrinology Henan No.3 Provincial People’s HospitalZhengzhou 450000Henan ProvinceChina

BACKGROUND Extracorporeal membrane oxygenation(ECMO)is a new type of extracorporeal respiratory and circulatory assistance *** can drain venous blood out of the body and inject it into veins or arteries after being oxygenated by an oxygenator(membrane lung)to replace lung and heart functions in a short *** can provide tissue blood perfusion and gas exchange almost equivalent to cardiac output and extend the effective treatment time window for patients with acute circulatory failure to restore cardiopulmonary *** SUMMARY We report a case of an 81-year-old woman who underwent whole cerebral angiography,basilar artery thrombectomy and stent thrombectomy in the posterior artery of the left brain after implantation of *** patient was admitted to the hospital due to myocardial *** that the cause of the patient’s disturbance of consciousness was unknown and cerebrovascular accident could not be ruled out after the implantation of ECMO,the department of Radioactive intervention performed cerebral *** the result of the angiography indicated vascular *** the basilar artery thrombectomy and stent thrombectomy in the posterior artery of the left brain,the patency of the occlusive vessel was *** Although the patient eventually died of circulatory failure,the result of this case verifies the feasibility of cerebral angiography and thrombectomy in patients with implanted ECMO in the intubated state.

关键词： Extracorporeal membrane oxygenation Blood circulation failure Nerve intervention Stent thrombectomy Case report

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Seroprevalence of HBV and HCV among People Living with HIV in Burkina Faso and Diagnostic Performance of HIV/HCV/HBsAg Combined Rapid Test in Comparison with Architect Assays

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Open Journal of Medical Microbiology 2024年第1期14卷 1-10页

作者： Serge Theophile Soubeiga Albert Theophane Yonli Alain Megabtche Nantchouang Jacques Simpore Department of Biomedical and Public Health Research Institute for Health Sciences (IRSS) Ouagadougou Burkina Faso Pietro Annigoni biomolecular research Centre (CERBA) Ouagadougou Burkina Faso Laboratory of Molecular Biology and Genetics (LABIOGENE) University Joseph Ki-Zerbo Ouagadougou Burkina Faso BIOMEX Laboratory Heidelberg Germany

Background: The diagnosis of human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) remains a constraint for some populations in sub-Saharan Africa. This study aimed to determine the prevalence of HBV and HCV in people living with HIV and to evaluate the performance of a combined rapid test for the simultaneous detection of HIV, HBV, and HCV. Methods: This is a cross-sectional study that took place from February 2017 to November 2018 and included 139 HIV-infected individuals followed up at different medical centers in Ouagadougou, Burkina Faso. HBV and HCV serology tests were performed on-site using finger prick whole blood with HIV/HCV/HBsAg combined rapid test and then serum with two reference tests “Architect HBsAg Qualitative” and “Architect HIV Ag/Ab Combo”. Results: The mean age of the participants was 57 ± 8 years. Of the 139 participants, 10% (14/139) were HIV-1 positive, 71.9% (100/139) were HIV-2 positive, and 18.0% (25/139) were HIV-1/HIV-2 coinfected. The sensitivity and specificity of the HIV/HCV/HBsAg combined rapid test were 33.33% vs 99.11% and 20% vs 99.25% compared to Architect HBsAg Qualitative and Architect HIV Ag/Ab Combo, respectively. The Kappa and Youden Index values were 0.4262 and 0.3244 and 0.2707 and 0.1925, respectively, compared to each of the two reference tests. Conclusion: The results show that the HIV/HCV/HBsAg combined rapid test has poor diagnostic efficiency and should not be recommended for the diagnosis of these viruses.

关键词： HIV HBV HCV Prevalence Diagnosis Burkina Faso

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Protein Arginine Methyltransferase 1 Ablation in Motor Neurons Causes Mitochondrial Dysfunction Leading to Age-related Motor Neuron Degeneration with Muscle Loss

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research 2024年第1期2023卷 637-649页

作者： Hyun-Kyung So Hyebeen Kim Jinwoo Lee Chang-Lim You Chae-Eun Yun Hyeon-Ju Jeong Eun-Ju Jin Yunju Jo Dongryeol Ryu Gyu-Un Bae Jong-Sun Kang Department of Molecular Cell Biology Sungkyunkwan University School of MedicineSuwonKorea Single Cell Network research Center Sungkyunkwan University School of MedicineSuwonKorea research Institute of Aging-Related Diseases AniMusCureInc.SuwonKorea Drug Information research Institute Muscle Physiome Research CenterCollege of PharmacySookmyung Women’s UniversitySeoulKorea

Neuromuscular dysfunction is tightly associated with muscle wasting that occurs with age or due to degenerative ***,the molecular mechanisms underlying neuromuscular dysfunction are currently *** studies have proposed important roles of Protein arginine methyltransferase 1(Prmt1)in muscle stem cell function and muscle *** the current study,we set out to determine the role of Prmt1 in neuromuscular function by generating mice with motor neuron-specific ablation of Prmt1(mnKO)using *** exhibited age-related motor neuron degeneration and neuromuscular dysfunction leading to premature muscle loss and ***1 deficiency also impaired motor function recovery and muscle reinnervation after sciatic nerve *** transcriptome analysis of aged mnKO lumbar spinal cords revealed alterations in genes related to inflammation,cell death,oxidative stress,and ***,mnKO lumbar spinal cords of sciatic nerve injury model or aged mice exhibited elevated cellular stress response in motor ***,Prmt1 inhibition in motor neurons elicited mitochondrial *** findings demonstrate that Prmt1 ablation in motor neurons causes agerelated motor neuron degeneration attributing to muscle ***,Prmt1 is a potential target for the prevention or intervention of sarcopenia and neuromuscular dysfunction related to aging.

关键词： degeneration impaired prevention

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