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The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa

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Asian Journal of Andrology 2024年第1期26卷 107-111页

作者： Liu Liu jing Yang wen-jing zhang Yi-Ling Zhou Gui-Jun Zhao Ya Huang Shu-Yan Tang Obstetrics and Gynecology Hospital Fudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200011China State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development Department of Computational BiologySchool of Life SciencesFudan UniversityShanghai 200436China Shanghai Towako Hospital Shanghai 200131China Shanghai Institute of Medical Genetics Shanghai Children's HospitalShanghai Jiao Tong UniversityShanghai 200040China

Teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to *** several monogenic factors are linked to cephalic abnormalities,such as globozoospermia and macrozoospermia,the genetic cause of vacuolated spermatozoa remains inadequately ***,we analyzed whole-exome sequencing(WES)data for an individual from a consanguineous family with severely vacuolated *** analysis revealed a novel homozygous c.520A>G(***174Ala)variant in the archaelysin family metallopeptidase 2(AMZ2),a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and *** algorithms predicted this variant to be a damaging *** with an autosomal recessive mode of inheritance,this variant was inherited from heterozygous parental *** investigate the potential pathogenicity of the identified variant,we compared the AMZ2 expression in sperm cells from the patient with the AMZ2 variant and from a healthy *** analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the *** findings reveal a candidate causative gene for vacuolated spermatozoa.

关键词： AMZ2 male infertility sperm quality teratozoospermia

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Elucidating the cardioprotective mechanisms of sodium-glucose cotransporter-2 inhibitors beyond glycemic control

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World Journal of Diabetes 2024年第2期15卷 137-141页

作者： Ke-Xin zhang Cheng-Xia Kan Fang Han jing-wen zhang Xiao-Dong Sun Department of Endocrinology and Metabolism Affiliated Hospital of Weifang Medical UniversityWeifang 261031Shandong ProvinceChina

Sodium-glucose cotransporter-2(SGLT2)inhibitors have emerged as a pivotal intervention in diabetes management,offering significant cardiovascular ***,in particular,has demonstrated cardioprotective effects beyond its glucose-lowering action,reducing heart failure hospitalizations and improving cardiac *** note,the cardioprotective mechanisms appear to be independent of glucose lowering,possibly mediated through several mechanisms involving shifts in cardiac metabolism and anti-fibrotic,anti-inflammatory,and anti-oxidative *** editorial summarizes the multifaceted cardiovascular advantages of SGLT2 inhibitors,highlighting the need for further research to elucidate their full therapeutic potential in cardiac care.

关键词： Diabetes Sodium-glucose cotransporter-2 Cardiovascular diseases Empagliflozin

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Mitochondrial carrier homolog 2 increases malignant phenotype of human gastric epithelial cells and promotes proliferation,invasion,and migration of gastric cancer cells

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World Journal of Gastrointestinal Oncology 2024年第3期16卷 991-1005页

作者： jing-wen zhang Ling-Yan Huang Ya-Ning Li Ying Tian Jia Yu Xiao-Fei Wang School of Basic Medical Science NHC Key Laboratory of Metabolic Cardiovascular Diseases ResearchNingxia Medical UniversityYinchuan 750004Ningxia Hui Autonomous RegionChina Department of Pathology General Hospital of Ningxia Medical UniversityYinchuan 750004Ningxia Hui Autonomous RegionChina School of Clinical Medicine Ningxia Medical UniversityYinchuan 750004Ningxia Hui Autonomous RegionChina Department of Pathology North China University of Science and Technology Affiliated HospitalTangshan 063000Hebei ProvinceChin

BACKGROUND The precise role of mitochondrial carrier homolog 2(MTCH2)in promoting malignancy in gastric mucosal cells and its involvement in gastric cancer cell metastasis have not been fully *** To determine the role of MTCH2 in gastric *** We collected 65 samples of poorly differentiated gastric cancer tissue and adjacent tissues,constructed MTCH2-overexpressing and MTCH2-knockdown cell models,and evaluated the proliferation,migration,and invasion of human gastric epithelial cells(GES-1)and human gastric cancer cells(AGS)*** mito-chondrial membrane potential(MMP),mitochondrial permeability transformation pore(mPTP)and ATP fluorescence probe were used to detect mitochondrial *** function and ATP synthase protein levels were detected via Western *** The expression of MTCH2 and ATP2A2 in gastric cancer tissues was significantly greater than that in adjacent *** of MTCH2 promoted colony formation,invasion,migration,MMP expression and ATP production in GES-1 and AGS cells while upregulating ATP2A2 expression and inhibiting cell apoptosis;knockdown of MTCH2 had the opposite effect,promoting overactivation of the mPTP and promoting *** MTCH2 can increase the malignant phenotype of GES-1 cells and promote the proliferation,invasion,and migration of gastric cancer cells by regulating mitochondrial function,providing a basis for targeted therapy for gastric cancer cells.

关键词： Gastric cancer Mitochondrial carrier homolog 2 ATP synthase ATP2A2 Mitochondrial permeability transformation pore

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Chiral Phenol-2NO Ligand Cooperation with Achiral Organic Base in the Zn(II)-Catalyzed Asymmetric Alkylation Reaction of Indoles

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Chinese Journal of Chemistry 2024年第13期42卷 1474-1480页

作者： Ke-Lan Xu Yu-Heng Wang Xi-Rui Wang Pan Hu Bo-wen Pan wen-jing zhang Zi-Yue Chen Ying Zhou Xiong-Li Liu National&Local Joint Engineering Research Center for the Exploitation of Homology Resources of Southwest Medicine and Food Guizhou UniversityGuiyangGuizhou 550025China College of Pharmaceutical Sciences Guizhou University of Traditional Chinese MedicineGuiyangGuizhou 550025China Green Catalysis Center and College of ChemistryZhengzhou UniversityZhengzhouHenan 450001China

The privileged C_(2)-symmetric rigid phenol-type ligand is more attractive but challenging in asymmetric ***,we designed and synthesized a class of rigid-featured chiral tridentate Phenol-2NO ligands,that incorporate the advantages of both the phenol skeleton and pyrroloimidazolone-based N-oxide moiety,from readily available L-prolinamides in operationally simple two steps and up to 44%overall *** importantly,using an achiral quinoline derivative as an additive,the newly developed Phenol-2NO ligand could serve as the anioic ligand upon deprotonative activation to coordinate to Zn(II)to form a highly enantioselective catalyst for the asymmetric Michael-type Friedel-Crafts alkylation reaction of indoles with 2,*** yields(up to 90%)and high enantioselectivities(up to 99%ee)are obtained for a wide range of substrates under mild *** and DFT calculations revealed the reaction mechanism and the origins of the *** also represented the first activation of phenol-type ligand/metal complex by an achiral organic base as the additive in asymmetric catalysis.

关键词： Phenol-2NO C_(2)-Symmetric Rigid-featured Tridentate ligand Asymmetric catalysis Alkylation Synthesis design Heterocycles

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Properties and microstructure of copper–titanium alloys with magnesium additions

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Rare Metals 2024年第5期43卷 2290-2299页

作者： Lue Huang Li-Jun Peng Jiang Li Xu-Jun Mi Gang Zhao Guo-Jie Huang Hao-Feng Xie Yi-Cheng Cao wen-jing zhang Zhen Yang State Key Laboratory of Nonferrous Metals and Processes GRINM Group Co.Ltd.Beijing 100088China GRIMAT Engineering Institute Co. LtdBejing 101407China School of Materials Science and Engineering Northeastern UniversityShenyang110000China General Research Institute for Nonferrous Metals Beijing 100088China China Academy of Space Technology Beijing 100094China China Nonferrous Metals Mining Group(Tianjin)Co.Ltd Tianjin 3001llChina

The volume fractions and morphology of precipitates in precipitation-strengthened Cu-Ti alloys,which precipitate mainly as continuous and discontinuous precipitates,are important for the application of the *** study employed hardness and electrical conductivity tests transmission electron microscopy(TEM),atom probe tomography(APT),and first-principles calculations to demonstrate that the addition of Mg is effective for accelerating nanosized continuousβ'-Cu_(4)Ti precipitation as well as for suppressing the precipitation of coarse lamellar discontinuousβ-Cu_(4)Ti precipitates along the grain boundaries,resulting in Cu-Ti alloys with high yield strength and good electrical *** results showed that the continuous precipitation ofβ'-Cu_(4)Ti was accelerated by the Mg additions,which reduced the supersaturation of the matrix,thereby reducing the chemical driving force for the discontinuous *** the other hand,Mg additions increased the mismatch between the discontinuousβ-Cu_(4)Ti precipitates and matrix decreased the nucleation rate of the discontinuous precipitates,and increased the spacing of the discontinuous precipitation layer,resulting in a lower growth rate of the discontinuous ***,the addition of Mg to Cu-Ti alloys enhances the strength and improves the resistance to over-ageing.

关键词： Cu-Ti-Mg alloy Precipitation hardening Discontinuous precipitation Continuous precipitation Microstructure formation mechanism

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Association between heat shock factor protein 4 methylation and colorectal cancer risk and potential molecular mechanisms:A bioinformatics study

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World Journal of Gastrointestinal Oncology 2023年第12期15卷 2150-2168页

作者： wen-jing zhang Ke-Lin Yue jing-Zhai Wang Yu zhang Department of Medical Oncology The First People’s Hospital of Yunnan ProvinceAffiliated Hospital of Kunming University of Science and TechnologyKunming 650032Yunnan ProvinceChina Department of Gastroenterology The First People’s Hospital of Yunnan ProvinceAffiliated Hospital of Kunming University of Science and TechnologyKunming 650032Yunnan ProvinceChina

BACKGROUND We previously demonstrated that heat shock factor protein 4(HSF4)facilitates colorectal cancer(CRC)*** methylation,a major modifier of gene expression and stability,is involved in CRC development and *** To investigate the correlation between HSF4 methylation and CRC risk,and to uncover the underlying molecular *** Differences in β values of HSF4 methylation loci in multiple malignancies and their correlation with HSF4 mRNA expression were analyzed based on Shiny Methylation Analysis Resource ***4 methylation-related genes were identified by LinkedOmics in CRC,and Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses were ***-protein interaction network of HSF4 methylation-related genes was constructed by String database and MCODE *** A total of 19 CpG methylation loci were identified in HSF4,and their β values were significantly increased in CRC tissues and exhibited a positive correlation with HSF4 mRNA ***,the prognostic and diagnostic performance of these CpG loci in CRC patients was *** CRC,there were 1694 HSF4 methylation-related genes;1468 of which displayed positive and 226 negative associations,and they were involved in regulating phenotypes such as immune,inflammatory,and metabolic ***,RELA,STAT3,FCGR3A,POLR2K,and AXIN1 are hub genes among the HSF4 methylation-related *** HSF4 is highly methylated in CRC,but there is no significant correlation between it and the prognosis and diagnosis of ***4 methylation may serve as one of the ways in which HSF4 mediates the CRC process.

关键词： Colorectal cancer DNA methylation Prognosis Diagnosis Bioinformatics Heat shock factor protein 4

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Efficacy of microcatheter-assisted trabeculotomy on secondary glaucoma after congenital cataract surgery

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International Journal of Ophthalmology(English edition) 2022年第10期15卷 1604-1610页

作者： wen-jing zhang Ying Qi Xue-Tao Huang Ren-Jie Yao Department of Ophthalmology the First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450052Henan ProvinceChina

AIM: To evaluate efficacy of microcatheter-assisted trabeculotomy(MAT) in eyes with secondary glaucoma after congenital cataract surgery and explore its correlation with the different degree of trabeculotomy. METHODS: A retrospective analysis was conducted on patients who underwent the said procedure between September 2019 and September 2020. The patients were classified into two groups according to the degree of trabeculotomy(group 1: ≤240-degree;group 2: 240–360-degree). The intraocular pressure(IOP) and antiglaucoma drugs before and after operation was collected during the 12-month follow-up. RESULTS: Totally 27 eyes of 25 patients were included: 11(40.7%) eyes in group 1 and 16(59.3%) eyes in group 2. The mean IOP of all patients was 34.67±9.18 mm Hg preoperatively and 8.74±4.32, 9.95±5.65, 14.39±5.30, 16.02±4.37, 15.82±3.28, and 16.19±3.56 mm Hg 1 d, 1 wk, 1, 3, 6, and 12 mo after surgery, respectively. In all patients, there were significant differences in IOP at each time point(F=65.614, P0.05). At the end of follow-up, the partial success rate was 81.8% in group 1 vs 93.75% in group 2(P=0.549). Various amount of intraoperative and postoperative hyphema occurred in all eyes, which spontaneously absorbed or cleaned through paracentesis and irrigation. No other serious complications was ***: MAT can effectively reduce IOP in patients with secondary glaucoma after congenital cataract surgery with a high success rate and safety. And it can be used as the first choice for the treatment of secondary glaucoma after surgery for congenital cataracts.

关键词： secondary glaucoma congenital cataract microcatheter-assisted trabeculotomy illuminated microcatheter intraocular pressure

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Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas:A case report

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World Journal of Clinical Cases 2022年第25期10卷 8932-8938页

作者： Han-Shi Zeng Zhan-Hui zhang Yan Hu Gui-Lang Zheng jing Wang jing-wen zhang Yu-Xiong Guo Department of Pediatrics Guangdong Provincial People’s HospitalGuangdong Academy of Medical SciencesGuangzhou 510030Guangdong ProvinceChina Department of Pediatrics Clinical Medicine Research InstituteThe First Affiliated HospitalJinan UniversityGuangzhou 510630Guangdong ProvinceChina

BACKGROUND Alagille syndrome(ALGS)is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 *** is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems,such as the cardiovascular,skeletal,and urinary *** SUMMARY We report a rare case of ALGS.A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease:Total anomalous pulmonary venous connection(TAPVC).Sustained jaundice,particularly with cardiac murmur,caught our *** tests revealed elevated levels of alanine aminotransferase,aspartate aminotransferase,gamma-glutamyl transpeptidase,total bilirubin,and total bile acids,indicating serious intrahepatic *** confirmed the presence of butterfly vertebra at the seventh thoracic *** suggested ALGS,which was confirmed by genetic testing with a c.3197dupC mutation in the JAG1 *** was administered immediately after confirmation of the diagnosis,and cardiac surgery was performed when the patient was 1.5 month *** recovered well after treatment and was discharged at the age of 3 *** the age of two years,the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared,and their size and number increased over *** We report a unique case of ALGS associated with TAPVC and severe *** study has enriched the clinical manifestations of ALGS and emphasized the association between JAG1 gene and TAPVC.

关键词： Alagille syndrome JAG1 gene Notch signaling pathway Total anomalous pulmonary venous connection Severe xanthomas Case report

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Impact of Carbon Chain Structures in the Backbone on the Flexibility of Modified Polyarylene Sulfide Resins: Molecular Dynamics Simulations and Mesoscopic Analysis

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Chinese Journal of Polymer Science 2024年第4期42卷 544-557页

作者： Chi zhang Rong Liu jing-Yuan Liu wen-Wei Jiang Key Laboratory of Fine Chemical Engineering and Functional Materials School of Chemical EngineeringSichuan UniversityChengdu610065China

In the domain of high-performance engineering polymers, the enhancement of mechanical flexibility in poly(phenylene sulfide) (PPS) resins has long posed a significant challenge. A novel molecular structure, designated as PP-He-IS, wherein imide rings and an aliphatic hexylene chain are covalently incorporated into the PPS backbone to enhance its flexibility, is introduced in this study. Molecular dynamics (MD) simulations are employed to systematically explore the effects of diversifying the backbone chain structures by substituting phenyl units with alkyl chains of varying lengths, referred to as PP-A-IS where “A” signifies the distinct intermediary alkyl chain configurations. Computational analyses reveal a discernable decrement in the glass transition temperature (Tg) and elastic modulus, counterbalanced by an increment in yield strength as the alkyl chain length is extended. Notably, the PP-He-IS variant is shown to exhibit superior yield strength while simultaneously maintaining reduced elastic modulus and Tg values, positioning it as an advantageous candidate for flexible PPS applications. Mesoscopic analyses further indicate that structures such as PP-He-IS, PP-Pe-IS, and PP-Bu-IS manifest remarkable flexibility, attributable to the presence of freely rotatable carbon-carbon single bonds. Experimental validation confirms that a melting temperature of 504 K which is lower than that of conventional PPS, and lower crystallinity are exhibited by PP-He-IS, thereby affording enhanced processability without compromising inherent thermal stability. Novel insights into the strategic modification of PPS for mechanical flexibility are thus furnished by this study, which also accentuates the pivotal role played by molecular dynamics simulations in spearheading high-throughput investigations in polymer material modifications.

关键词： Molecular dynamics simulations Polyarylene Sulfide Main-chain modifications Flexibility Aliphatic hexylene chain

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World Journal of Clinical Cases 2022年第7期10卷 2216-2221页

作者： Yi-Xia Huang Guo-Xin He wen-jing zhang Bo-Wu Li Hai-Xu weng wen-Chao Luo Intensive Care Unit The Third Affiliated HospitalWenzhou Medical UniversityRuian 330381Zhejiang ProvinceChina

BACKGROUND Quetiapine,known as a non-classical antipsychotic drug,is frequently used for the treatment of mental diseases,such as schizophrenia,bipolar disorder,and major depressive *** lung injury,a rarely reported side effect of quetiapine,is described in this case *** SUMMARY Due to terminal delirium,a 66-year-old man took a large dose of quetiapine and then developed severe pulmonary *** symptoms were not resolved after routine treatment,such as antibiotics,diuretic,and supportive ***-related acute lung injury was therefore suspected and hormonal therapy was ***,his symptoms were alleviated and the radiological results improved *** Our findings in the present report highlight a potential adverse effect of quetiapine,drug-related acute lung injury,which deserves awareness in clinical practice.

关键词： Quetiapine Acute lung injury Side effect Case report

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