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Biallelic mutations in spermatogenesis and centriole-associated 1 like(SPATC1L)cause acephalic spermatozoa syndrome and male infertility

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Asian Journal of Andrology 2022年第1期24卷 67-72页

作者： You-Zhu Li Na Li Wen-Sheng Liu Yan-Wei Sha rong-feng wu Ya-Ling Tang Xing-Shen Zhu Xiao-Li Wei Xiao-Ya Zhang Yi-feng Wang Zhong-Xian Lu Fu-Xing Zhang Reproductive Medicine Center The First Affiliated Hospital of Xiamen UniversityXiamen 361003China Intensive Care Unit Fujian Medical University Xiamen Humanity HospitalXiamen 361009China Obstetrics and Gynecology Center Department of Obstetrics and GynecologyZhujiang HospitalSouthern Medical UniversityGuangzhou 510280China School of Pharmaceutical Sciences State Key Laboratory of Cellular Stress BiologyXiamen UniversityXiamen 361102China Department of Andrology United Diagnostic and Research Center for Clinical GeneticsWomen and Children’s Hospital and School of MedicineXiamen UniversityXiamen 361005China Department of Obstetrics and Gynecology First Affiliated Hospital of Xiamen UniversityXiamen 361003China Department of General Surgery First Affiliated Hospital of Xiamen UniversityXiamen 361003China

Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients,and genetic defects have been recognized as the main cause of acephalic spermatozoa syndrome.Spermatogenesis and centrioleassociated 1 like(SPATC1L)is indispensable for maintaining the integrity of sperm head-to-tail connections in mice,but its roles in human sperm and early embryonic development remain largely unknown.Herein,we conducted whole-exome sequencing(WES)of 22 infertile men with acephalic spermatozoa syndrome.An in silico analysis of the candidate variants was conducted,and WES data analysis was performed using another cohort consisting of 34 patients with acephalic spermatozoa syndrome and 25 control subjects with proven fertility.We identified biallelic mutations in SPATC1L(c.910C>T:p.Arg304Cys and c.994G>T:p.Glu332X)from a patient whose sperm displayed complete acephalia.Both SPATC1L variants are rare and deleterious.SPATC1L is mainly expressed at the head–tail junction of elongating spermatids.Plasmids containing pathogenic variants decreased the level of SPATC1L in vitro.Moreover,none of the patient’s four attempts at intracytoplasmic sperm injection(ICSI)resulted in a transplantable embryo,which suggests that SPATC1L defects might affect early embryonic development.In conclusion,this study provides the first identification of SPATC1L as a novel gene for human acephalic spermatozoa syndrome.Furthermore,WES might be applied for patients with acephalic spermatozoa syndrome who exhibit reiterative ICSI failures.

关键词： acephalic spermatozoa syndrome biallelic mutations spermatogenesis and centriole-associated 1 like whole-exome sequencing

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Vitrification versus Slow Freezing of Human Oocytes: Effects on Ultrastructure and Developmental Potential

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Reproductive and Developmental Medicine 2018年第3期2卷 129-136页

作者： You-Zhu Li Na Li Xiao-Hong Yan Wei-Dong Zhou Yu-Lai Zhou Qiong-Hua Chen rong-feng wu Center for Reproductive Medicine The First Affiliated Hospital of Xiamen UniversityXiamen 361003China Intensive Care Unit Xiamen Hongai HospitalXiamen 361003China College of Pharmacy Jilin UniversityChangchun 130021China

Objective:This study compared spindles,cytoskeleton,and developmental potential between vitrified and slow-frozen oocytes using PolScope and electron microscopy.Methods:Oocytes were randomly divided into control,slow freeze-thaw,and vitrification freeze-thaw groups(0,1,and 3 h).PolScope was used to observe spindles,angle of spindles to the first polar bodies,surface areas of oocytes,and lining and outer ret of zona pellucida.Surfaces and ultrastructure of oocytes were observed by scanning electron microscopy and transmission electron microscopy.These measures were used to characterize the impacts of two freezing methods on the developmental capacity of human oocytes.Results:The visible frequency of spindle formation was 92.4%,56.4%,11.2%,24.8%,and 61.1%in control group,slow freeze-thaw group,and the three vitrification freeze-thaw groups(0,1,and 3 h),respectively.Compared to oocytes in the slow freeze group,the angle of the spindle to the first polar body in oocytes in the 3-h vitrification freeze-thaw group was less(37.3°vs.68°,P=0.023).No significant differences were observed between the surface area of oocytes,or lining and outer ret of oocyte zona pellucida between freeze-thaw in these same two groups.Microvilli appeared normal.However,protrusions on oocyte surfaces were increased,and microvilli were laid down on the membrane surface in the 3-h vitrification freeze-thaw group in comparison to the slow-freeze group.Similar comparisons showed better recovery of perivitelline space and mitochondria between the 3-h vitrified and slow-frozen groups.Bipronuclear(2PN)fertilization rate observed in the slow-freeze group(65.7%)was lower than the rate seen in controls(79.2%,P=0.041).No significant differences were observed in 2PN fertilization,cleavage,and blastocyst formation rates between the 3-h vitrification freeze-thaw and control groups.Conclusions:Results suggest that vitrification freeze-thaw for oocyte cryopreservation was a better choice than slow freeze-thaw.

关键词： Human Oocyte Meiotic Spindle Slow Freezing Vitrification Zona Pellucida

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Counteracting effects on ENSO induced by ocean chlorophyll interannual variability and tropical instability wave-scale perturbations in the tropical Pacific

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Science China Earth Sciences 2024年第2期67卷 387-404页

作者： rong-Hua ZHANG feng TIAN Qidong SHI Xiujun WANG Tongwen wu School of Marine Sciences Nanjing University of Information Science and TechnologyNanjing210044China Laoshan Laboratory Qingdao266237China Key Laboratory of Ocean Circulation and Waves Institute of OceanologyChinese Academy of SciencesQingdao266071China University of Chinese Academy of Sciences Beijing101408China Faculty of Geographical Sciences Beijing Normal UniversityBeijing100875China Earth System Modeling and Prediction Centre China Meteorological AdministrationBeijing100081China

Large perturbations in chlorophyll(Chl)are observed to coexist at interannual and tropical instability wave(TIW)scales in the tropical Pacific;at present,their combined effects on El Ni?o-Southern Oscillation(ENSO)through ocean biologyinduced heating(OBH)feedbacks are not understood well.Here,a hybrid coupled model(HCM)for the atmosphere and ocean physics-biogeochemistry(AOPB)in the tropical Pacific is adopted to quantify how ENSO can be modulated by Chl perturbations at interannual and TIW scales,individually or collectively,respectively.The HCM-based sensitivity experiments demonstrate a counteracting effect on ENSO:the bio-climate feedback due to large-scale Chl interannual variability acts to damp ENSO through its impact on upper-ocean stratification and vertical mixing,whereas that due to TIW-scale Chl perturbations tends to amplify ENSO.Because ENSO simulations are sensitively dependent on the ways Chl effects are represented at these different scales,it is necessary to adequately take into account these related differential Chl effects in climate modeling.A bias source for ENSO simulations is illustrated that is related with the Chl effects in the tropical Pacific,adding in a new insight into interactions between the climate system and ocean ecosystem on different scales in the region.These results reveal a level of complexity of ENSO modulations resulting from Chl effects at interannual and TIW scales,which are associated with ocean biogeochemical processes and their interactions with physical processes in the tropical Pacific.

关键词： Ocean chlorophyll Bio-climate feedbacks Interannual variability Tropical instability waves Counteracting effects A hybrid coupled model

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Reconstructing cell lineage trees with genomic barcoding:approaches and applications

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Journal of Genetics and Genomics 2024年第1期51卷 35-47页

作者： Zizhang Li Wenjing Yang Peng wu Yuyan Shan Xiaoyu Zhang feng Chen Junnan Yang Jian-rong Yang Advanced Medical Technology Center The First Affiliated HospitalZhongshan School of MedicineSun Yat-sen UniversityGuangzhouGuangdong 510080China Department of Genetics and Biomedical Informatics Zhongshan School of MedicineSun Yat-sen UniversityGuangzhouGuangdong 510080China Key Laboratory of Tropical Disease Control Ministry of EducationSun Yat-sen UniversityGuangzhouGuangdong 510080China

In multicellular organisms,developmental history of cell divisions and functional annotation of terminal cells can be organized into a cell lineage tree(CLT).The reconstruction of the CLT has long been a major goal in developmental biology and other related fields.Recent technological advancements,especially those in editable genomic barcodes and single-cell high-throughput sequencing,have sparked a new wave of experimental methods for reconstructing CLTs.Here we review the existing experimental approaches to the reconstruction of CLT,which are broadly categorized as either image-based or DNA barcode-based methods.In addition,we present a summary of the related literature based on the biological insight pro-vided by the obtained CLTs.Moreover,we discuss the challenges that will arise as more and better CLT data become available in the near future.Genomic barcoding-based CLT reconstructions and analyses,due to their wide applicability and high scalability,offer the potential for novel biological discoveries,especially those related to general and systemic properties of the developmental process.

关键词： Cell lineage tree Developmental regulation Biotechnology Computational biology

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Analysis of the potential biological value of pyruvate dehydrogenase E1 subunitβin human cancer

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World Journal of Gastrointestinal Oncology 2024年第1期16卷 144-181页

作者： Yao rong Song-Hua Liu Ming-Zheng Tang Zhi-Hang wu Guo-rong Ma Xiao-feng Li Hui Cai First Clinical Medical College Gansu University of Chinese MedicineLanzhou 730000Gansu ProvinceChina General Surgery Clinical Medical Center Gansu Provincial HospitalLanzhou 730000Gansu ProvinceChina Key Laboratory of Molecular Diagnostics and Precision Medicine for Surgical Oncology in Gansu Province Gansu Provincial HospitalLanzhou 730000Gansu ProvinceChina NHC Key Laboratory of Diagnosis and Therapy of Gastrointestinal Tumor Gansu Provincial HospitalLanzhou 730000Gansu ProvinceChina

BACKGROUND The pyruvate dehydrogenase E1 subunitβ(PDHB)gene which regulates energy metabolism is located in mitochondria.However,few studies have elucidated the role and mechanism of PDHB in different cancers.AIM To comprehensive pan-cancer analysis of PDHB was performed based on bioinformatics approaches to explore its tumor diagnostic and prognostic value and tumor immune relevance in cancer.In vitro experiments were performed to examine the biological regulation of PDHB in liver cancer.METHODS Pan-cancer data related to PDHB were obtained from the Cancer Genome Atlas(TCGA)database.Analysis of the gene expression profiles of PDHB was based on TCGA and Genotype Tissue Expression Dataset databases.Cox regression analysis and Kaplan-Meier methods were used to assess the correlation between PDHB expression and survival prognosis in cancer patients.The correlation between PDHB and receiver operating characteristic diagnostic curve,clinicopathological staging,somatic mutation,tumor mutation burden(TMB),microsatellite instability(MSI),DNA methylation,and drug susceptibility in pan-cancer was also analyzed.Various algorithms were used to analyze the correlation between PDHB and immune cell infiltration and tumor chemotaxis environment,as well as the co-expression analysis of PDHB and immune checkpoint(ICP)genes.The expression and functional phenotype of PDHB in single tumor cells were studied by single-cell sequencing,and the functional enrichment analysis of PDHB-related genes was performed.The study also validated the level of mRNA or protein expression of PDHB in several cancers.Finally,in vitro experiments verified the regulatory effect of PDHB on the proliferation,migration,and invasion of liver cancer.RESULTS PDHB was significantly and differently expressed in most cancers.PDHB was significantly associated with prognosis in patients with a wide range of cancers,including kidney renal clear cell carcinoma,kidney renal papillary cell carcinoma,breast invasive carcinoma,and brain lower grade glioma.In some cancers,P

关键词： Cuprotosis Pyruvate dehydrogenase E1 subunitβ Pan-cancer Prognosis Liver cancer

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Ultrafast laser-chemical modification hybrid fabrication of hydrostatic bearings with a superhydrophobicity solid-liquid interface

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Science China(Technological Sciences) 2024年第3期67卷 696-708页

作者： GUO MingHui rong YouMin HUANG Yu feng XiaoLin HU HaiDong wu CongYi ZHANG GuoJun State Key Laboratory of Intelligent Manufacturing Equipment and Technology Huazhong University of Science and Technology Wuhan 430074China School of Mechanical Science and Engineering Huazhong University of Science and TechnologyWuhan 430074China Faculty of Engineering and Life Sciences Universiti Selangor Bestari JayaSelangor 45600Malaysia

Oil film vortex severely reduces the stability of hydrostatic bearings. A solid-liquid interface with drag and slip properties can weaken the oil film vortex of the bearing. Here, a combined picosecond laser ablation and chemical modification method is proposed to prepare surfaces with microbulge array structure on 6061 aluminum alloy substrates. Because of the low surface energy of the perfluorododecyltriethoxysilane modification and the bulge geometry of the microbulge array structure, the surface shows excellent superhydrophobicity. The optimum contact angle in air for water is 164°, and that for oil is 139°. Two surfaces with “lotus-leaf effect” and “rose-petal effect” were obtained by controlling the processing parameters. The drag reduction properties of superhydrophobic surfaces were systematically investigated with slip lengths of 22.26 and 36.25 μm for deionized water and VG5 lubricant, respectively. In addition, the superhydrophobic surface exhibits excellent mechanical durability and thermal stability. The proposed method provides a new idea for vortex suppression in hydrostatic bearings and improves the stability of bearings in high-speed operation.

关键词： superhydrophobicity surface ultrafast laser drag reduction solid-liquid interface microbulge array structure

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Milk fat globule epidermal growth factor 8 alleviates liver injury in severe acute pancreatitis by restoring autophagy flux and inhibiting ferroptosis in hepatocytes

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World Journal of Gastroenterology 2024年第7期30卷 728-741页

作者： Qing Cui Hang-Cheng Liu wu-Ming Liu feng Ma Yi Lv Jian-Cang Ma rong-Qian wu Yi-Fan Ren Department of Cardiology Xi’an Central Hospital Affiliated to Xi’an Jiaotong UniversityXi’an 710003Shaanxi ProvinceChina Department of General Surgery The Second Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710004Shaanxi ProvinceChina National Local Joint Engineering Research Center for Precision Surgery&Regenerative Medicine Shaanxi Provincial Center for Regenerative Medicine and Surgical EngineeringFirst Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710061Shaanxi ProvinceChina Department of Vascular Surgery The Second Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710004Shaanxi ProvinceChina

BACKGROUND Liver injury is common in severe acute pancreatitis(SAP).Excessive autophagy often leads to an imbalance of homeostasis in hepatocytes,which induces lipid peroxidation and mitochondrial iron deposition and ultimately leads to ferroptosis.Our previous study found that milk fat globule epidermal growth factor 8(MFG-E8)alleviates acinar cell damage during SAP via binding toαvβ3/5 integrins.MFG-E8 also seems to mitigate pancreatic fibrosis via inhibiting chaperone-mediated autophagy.AIM To speculate whether MFG-E8 could also alleviate SAP induced liver injury by restoring the abnormal autophagy flux.METHODS SAP was induced in mice by 2 hly intraperitoneal injections of 4.0 g/kg L-arginine or 7 hly injections of 50μg/kg cerulein plus lipopolysaccharide.mfge8-knockout mice were used to study the effect of MFG-E8 deficiency on SAPinduced liver injury.Cilengitide,a specificαvβ3/5 integrin inhibitor,was used to investigate the possible mechanism of MFG-E8.RESULTS The results showed that MFG-E8 deficiency aggravated SAP-induced liver injury in mice,enhanced autophagy flux in hepatocyte,and worsened the degree of ferroptosis.Exogenous MFG-E8 reduced SAP-induced liver injury in a dose-dependent manner.Mechanistically,MFG-E8 mitigated excessive autophagy and inhibited ferroptosis in liver cells.Cilengitide abolished MFG-E8’s beneficial effects in SAP-induced liver injury.CONCLUSION MFG-E8 acts as an endogenous protective mediator in SAP-induced liver injury.MFG-E8 alleviates the excessive autophagy and inhibits ferroptosis in hepatocytes by binding to integrinαVβ3/5.

关键词： Autophagy flux Ferroptosis Liver injury Milk fat globule epidermal growth factor 8 αvβ3/5 integrins Acute pancreatitis

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Effects and mechanisms of acupuncture on women related health

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Frontiers of Medicine 2024年第1期18卷 46-67页

作者： Huichao Qin Jiaxing feng Xiaoke wu Department of Reproductive Medicine Heilongjiang Provincial HospitalHarbin Institute of TechnologyHarbin150036China Department of Obstetrics and Gynecology First Affiliated HospitalHeilongjiang University of Chinese MedicineHarbin150040China

Globally,public health interventions have resulted in a 30-year increase in women’s life expectancy.However,women’s health has not increased when socioeconomic status is ignored.Women’s health has become a major public health concern,for those women from developing countries are still struggling with infectious and labor-related diseases,and their counterparts in developed countries are suffering from physical and psychological disorders.In recent years,complementary and alternative medicine has attracted wide attentions with regards to maintaining women’s health.Acupuncture,a crucial component of traditional Chinese medicine,has been used to treat many obstetric and gynecological diseases for thousands of years due to its analgesic and anti-inflammatory effects and its effects on stimulating the sympathetic/parasympathetic nervous system.To fully understand the mechanism through which acupuncture exerts its effects in these diseases would significantly extend the list of available interventions and would allow for more reasonable advice to be given to general practitioners.Therefore,by searching PubMed and CNKI regarding the use of acupuncture in treating obstetric and gynecological diseases,we aimed to summarize the proven evidence of using acupuncture in maintaining women’s health by considering both its effectiveness and the underlying mechanisms behind its effects.

关键词： acupuncture women health clinical efficacy mechanism

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Effect of viral hepatitis on type 2 diabetes:A Mendelian randomization study

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World Journal of Diabetes 2024年第2期15卷 220-231页

作者： Yun-feng Yu Gang Hu Ke-Ke Tong Xin-Yu Yang Jing-Yi wu rong Yu The First Hospital of Hunan University of Chinese Medicine Changsha 410007Hunan ProvinceChina The Hospital of Hunan University of Traditional Chinese Medicine Changde 415213Hunan ProvinceChina College of Chinese Medicine Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina The Third Hospital of Zhejiang Chinese Medical University Hangzhou 310005Zhejiang ProvinceChina

BACKGROUND The effects of viral hepatitis(VH)on type 2 diabetes(T2D)remain controversial.AIM To analyze the causal correlation between different types of VH and T2D using Mendelian randomization(MR).METHODS Single nucleotide polymorphisms of VH,chronic hepatitis B(CHB),chronic hepatitis C(CHC)and T2D were obtained from the BioBank Japan Project,European Bioinformatics Institute,and FinnGen.Inverse variance weighted,MREgger,and weighted median were used to test exposure-outcome associations.The MR-Egger intercept analysis and Cochran’s Q test were used to assess horizontal pleiotropy and heterogeneity,respectively.Leave-one-out sensitivity analysis was used to evaluate the robustness of the MR analysis results.RESULTS The MR analysis showed no significant causal relationship between VH and T2D in Europeans[odds ratio(OR)=1.028;95%confidence interval(CI):0.995-1.062,P=0.101].There was a negative causal association between CHB and T2D among East Asians(OR=0.949;95%CI:0.931-0.968,P0.05).Sensitivity analysis showed that the results were robust.CONCLUSION Among East Asians,CHB is associated with a reduced T2D risk,but this association is limited by HBV load and cirrhosis.Although VH among Europeans and CHC among East Asians are not associated with the risk of T2D,focusing on blood glucose in patients with CHC is still relevant for the early detection of T2D induced by CHCmediated pathways of hepatic steatosis,liver fibrosis,and cirrhosis.

关键词： Viral hepatitis Chronic hepatitis B Chronic hepatitis C Type 2 diabetes Mendelian randomization

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Market-based solution in China to finance the clean from the dirty

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Fundamental Research 2024年第2期4卷 324-333页

作者： Haoqi Qian rong Ma Libo wu Institute for Global Public Policy Fudan UniversityShanghai 200433China LSE-Fudan Research Centre for Global Public Policy Fudan UniversityShanghai 200433China School of Economics Fudan UniversityShanghai 200433China Shanghai Institute for Energy and Carbon Neutrality Strategy Fudan UniversityShanghai 200433China

Financial incentives play a key role in promoting renewable energy investments that can help China achieve the‘dual carbon’goal.The national emissions trading scheme(ETS)and the renewable energy portfolio standard(RPS)are two existing market-based policy instruments that can generate stable expected returns for low-carbon projects.This paper studies the interactive distribution effects of these two market-based instruments.We use the micro-level thermal power plant data to investigate the abatement effects of the national ETS,in which the details show that the existing rate-based ETS will result in higher negative impacts on power units,whose installed capacities are smaller than 400 MW.The interactive distribution effects between the two markets will occur when the permit allocation standards of the national ETS become stricter than the existing ones.Provinces in Eastern China and Northern China will face high pressure on costs in both ETS and RPS markets.When the levels of the permit allocation standards are set as 70%of the existing ones and the carbon price is assumed to be 200 yuan/ton in 2030,the annual market size of the national ETS will be nearly 100 billion yuan,and the annual market size is predicted to be 250 billion yuan.In the existing rate-based national ETS,the China Certified Emission Reduction(CCER)mechanism will have an offsetting effect,which should be taken into serious consideration during the policy-making processes in the future.

关键词： Emission trading scheme Renewable energy portfolio standard Green finance Policy interactions China certified emission reduction Distribution effect

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