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Exploring noncoding variants in genetic diseases:from detection to functional insights

Journal of Genetics and Genomics 2024年第2期51卷 111-132页

作者： Ke Wu Fengxiao Bu Yang Wu Gen Zhang xin Wang Shunmin He Mo-fang Liu Runsheng Chen Huijun Yuan Institute of Rare Diseases West China Hospital of Sichuan UniversityChengduSichuan 610041China Key Laboratory of Systems Health Science of Zhejiang Province School of Life ScienceHangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhouZhejiang 310024China Key Laboratory of RNA Biology Center for Big Data Research in HealthInstitute of BiophysicsChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China State Key Laboratory of Molecular Biology State Key Laboratory of Cell BiologyShanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCenter for Excellence in Molecular Cell ScienceChinese Academy of SciencesShanghai 200031China

Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and functional genomics tools has enabled the systematic identification of functional noncoding variants. These variants can impact gene expression, regulation, and chromatin conformation, thereby contributing to disease pathogenesis. Understanding the mechanisms that underlie the impact of noncoding variants on genetic diseases is indispensable for the development of precisely targeted therapies and the implementation of personalized medicine strategies. The intricacies of noncoding regions introduce a multitude of challenges and research opportunities. In this review, we introduce a spectrum of noncoding variants involved in genetic diseases, along with research strategies and advanced technologies for their precise identification and in-depth understanding of the complexity of the noncoding genome. We will delve into the research challenges and propose potential solutions for unraveling the genetic basis of rare and complex diseases.

关键词： Noncoding variation Genetic disease Research approach Challenge

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Strengthening and control of second-phase particle precipitation in ferritic/austenitic/martensitic heat-resistant alloys:a review

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Journal of Iron and Steel Research(International) 2024年第1期31卷 3-23页

作者： Xue-cheng Peng Han-jie Guo xin-fang Zhang Yi-wa Luo Ye Sun Jing Guo Rong-guang Yang Xiao-dan Zheng School of Metallurgical and Ecological Engineering University of Science and Technology Beijing(USTB)Beijing100083China Beijing Key Laboratory of Special Melting and Preparation of High-End Metal Materials University of Science and Technology Beijing(USTB)Beijing100083China Beijing Shougang Gitane New MATERIALS Co. Ltd.Beijing102206China

Heat-resistant alloys with excellent mechanical properties are widely used in various fields,and further improvement in their properties is essential to meet the requirements in new-generation advanced supercritical boilers,nuclear reactors,superheaters,and other new materials *** effectively enhance the comprehensive performance of heat-resistant alloys,second-phase particle strengthening has been widely studied,and in the face of different service envi-ronments of advanced heat-resistant steels,the selection of suitable second-phase particles is essential to maximize the performance of these *** this end,three major types of reinforcing phases in heat-resistant alloys such as carbides,rare earth oxides,and intermetallic compounds are summarized.A comparative analysis of the precipitation behavior of the reinforcing phases with different types as well as the risks and means of controlling their use in service,is *** parameters for the application of various types of second-phase particles in heat-resistant alloys are provided to support the design and preparation of new ultrahigh-performance heat-resistant alloys.

关键词： Heat-resistant alloy Second-phase particle Carbide Rare earth oxide Intermetallic compound Strengthening

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Timing effect of high temperature exposure on the plasticity of internode and plant architecture in maize

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Journal of Integrative Agriculture 2024年第2期23卷 551-565页

作者： Binbin Li Xianmin Chen Tao Deng Xue Zhao fang Li Bingchao Zhang xin Wang Si Shen Shunli Zhou College of Agronomy and Biotechnology China Agricultural UniversityBeijing 100193China China Tobacco Hunan Industrial Corporation Changsha 410019China Innovation Center of Agricultural Technology for Lowland Plain of Hebei Wuqiao 061802China

The occurrence of high temperature(HT)in crop production is becoming more frequent and unpredictable with global warming,severely threatening food *** state of an organ’s growth and development is largely determined by the temperature conditions it is exposed to over *** is the main cereal crop,and its stem growth and plant architecture are closely related to lodging resistance,and especially sensitive to ***,systematic research on the timing effect of HT on the sequentially developing internode and stem is currently *** identify the timing effect of HT on the morphology and plasticity of the stem in maize,two hybrids(Zhengdan 958(ZD958),Xianyu 335(XY335))characterized by distinct morphological traits in the stem were exposed to a 7-day HT treatment from the V6 to V17 stages(Vn presents the vegetative stage with n leaves fully expanded)in *** results demonstrated that exposure to HT during V6-V12 accelerated the rapid elongation of *** instance,HT occurring at V7 and V12 specifically promoted the lengths and weights of the 3rd-5th and 9th-11th internodes,***,HT slowed the growth of internodes adjacent to the promoted ***,compared with control,the plant height was significantly increased soon after HT treatment,but the promotion effect became narrower at the subsequent flowering stage,demonstrating a self-adjusting mechanism in the maize plant in response to ***,HT altered the plant architectures,including a rising of the ear position and increase in the ear position ***335 exhibited greater sensitivity in stem development than ZD958 under HT *** findings improve our systematic understanding of the plasticity of internode and plant architecture in response to the timing of HT exposure.

关键词： maize high temperature internode growth plasticity plant architecture

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Bile acids inhibit ferroptosis sensitivity through activating farnesoid X receptor in gastric cancer cells

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World Journal of Gastroenterology 2024年第5期30卷 485-498页

作者： Chu-Xuan Liu Ying Gao Xiu-fang Xu xin Jin Yun Zhang Qian Xu Huan-xin Ding Bing-Jun Li fang-Ke Du Lin-Chuan Li Ming-Wei Zhong Jian-Kang Zhu Guang-Yong Zhang Department of General Surgery Shandong Provincial Qianfoshan HospitalShandong UniversityJinan 250014Shandong ProvinceChina Department of General Surgery Linyi People's HospitalLinyi 276034Shandong ProvinceChina Department of Nursing Huantai TCM HospitalZibo 256400Shandong ProvinceChina Center for Translational medical Research The First Affiliated Hospital of Shandong First Medical UniversityJinan 250014Shandong ProvinceChina Department of General Surgery The First Affiliated Hospital of Shandong First Medical UniversityJinan 250014Shandong ProvinceChina

BACKGROUND Gastric cancer(GC)is associated with high mortality *** acids(BAs)reflux is a well-known risk factor for GC,but the specific mechanism remains *** GC development in both humans and animals,BAs serve as signaling molecules that induce metabolic *** confers additional cancer phenotypes,including ferroptosis *** is a novel mode of cell death characterized by lipid peroxidation that contributes universally to malignant ***,it is not fully defined if BAs can influence GC progression by modulating *** To reveal the mechanism of BAs regulation in ferroptosis of GC *** In this study,we treated GC cells with various stimuli and evaluated the effect of BAs on the sensitivity to *** used gain and loss of function assays to examine the impacts of farnesoid X receptor(FXR)and BTB and CNC homology 1(BACH1)overexpression and knockdown to obtain further insights into the molecular mechanism *** Our data suggested that BAs could reverse erastin-induced ferroptosis in GC *** effect correlated with increased glutathione(GSH)concentrations,a reduced GSH to oxidized GSH ratio,and higher GSH peroxidase 4(GPX4)expression ***,we confirmed that BAs exerted these effects by activating FXR,which markedly increased the expression of GSH synthetase and ***,BACH1 was detected as an essential intermediate molecule in the promotion of GSH synthesis by BAs and ***,our results suggested that FXR could significantly promote GC cell proliferation,which may be closely related to its anti-ferroptosis *** This study revealed for the first time that BAs could inhibit ferroptosis sensitivity through the FXR-BACH1-GSHGPX4 axis in GC *** work provided new insights into the mechanism associated with BA-mediated promotion of GC and may help identify potential therapeutic targets for GC patients with BAs reflux.

关键词： Gastric cancer Ferroptosis Bile acids Chenodeoxycholic acid Farnesoid X receptor Glutathione

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Early adenocarcinoma mixed with a neuroendocrine carcinoma component arising in the gastroesophageal junction: A case report

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World Journal of Gastrointestinal Oncology 2024年第2期16卷 563-570页

作者： Yu-Qing Cheng Geng-fang Wang Xiao-Li Zhou Min Lin xin-Wen Zhang Qin Huang Department of Pathology The Affiliated Changzhou No.2 People’s Hospital of Nanjing Medical UniversityChangzhou 213164Jiangsu ProvinceChina Gastroenterology Center The Affiliated Changzhou No.2 People’s Hospital of Nanjing Medical UniversityChangzhou 213164Jiangsu ProvinceChina Graduate School Dalian Medical UniversityDalian 116044Liaoning ProvinceChina Department of Pathology Beth Israel Deaconess Medical Center and Harvard Medical SchoolBostonMA 02215United States

BACKGROUND Early adenocarcinoma mixed with a neuroendocrine carcinoma(NEC)component arising in the gastroesophageal junctional(GEJ)region is rare and even rarer in young ***,we report such a case in a 29-year-old Chinese *** SUMMARY This patient presented to our hospital with a 3-mo history of dysphagia and *** endoscopy revealed an elevated nodule in the distal esophagus 1.6 cm above the GEJ line,without Barrett’s esophagus or involvement of the gastric *** nodule was completely resected by endoscopic submu-cosal dissection(ESD).Pathological examination confirmed diagnosis of intra-mucosal adenocarcinoma mixed with an NEC component,measuring 1.5 ***,both adenocarcinoma and NEC components were positive for P53 with a Ki67 index of 90%;NEC was positive for synaptophysin and ***-generation sequencing of 196 genes demonstrated a novel germline mutation of the ERCC3 gene in the DNA repair pathway and a germline mutation of the RNF43 gene,a common gastric cancer driver gene,in addition to pathogenic somatic mutations in P53 and CHEK2 *** patient was alive without evidence of the disease 36 mo after *** Early adenocarcinoma with an NEC component arising in the distal esophageal side of the GEJ region showed evidence of gastric origin.

关键词： Adenocarcinoma Neuroendocrine carcinoma Gastroesophageal junction Next generation sequencing Case report

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Efficacy of scleral buckling for the treatment of rhegmatogenous retinal detachment using a novel foldable capsular buckle

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 558-563页

作者： fang-fang Fan Chang Xiao Liang Wang xin-Ting Wang Dan-Dan Liu xing Ge Ya-Lu Liu Su-Yan Li The Affiliated Xuzhou Municipal Hospital of Xuzhou Medical University Xuzhou 221000Jiangsu ProvinceChina Department of Ophthalmology Xuzhou First People’s HospitalXuzhou 221116Jiangsu ProvinceChina Eye Disease Prevention and Treatment Institute of Xuzhou Xuzhou 221116Jiangsu ProvinceChina The Affiliated Shuyang Hospital of Xuzhou Medical University Shuyang 223600Jiangsu ProvinceChina

●AIM:To evaluate the effectiveness and safety of scleral buckling for the treatment of rhegmatogenous retinal detachment(RRD)using a novel foldable capsular buckle(FCB).●METHODS:This was a series of case observation *** patients(18 eyes)who visited our ophthalmology department between August 2020 and August 2022 and were treated for RRD with scleral buckling using FCB were *** procedure was similar to conventional scleral buckling,while a balloon-like FCB was placed onto the retinal break with balanced salt solution filling for a broad,external indentation instead of the silicone *** retinal reattachment rate,best corrected visual acuity(BCVA),intraocular pressure(IOP),refractive dioptre and astigmatism degree,and complications were evaluated and recorded.●RESULTS:There were 7 males and 11 females aged *** average time course of RRD was 12d,ranging from *** retinal break was located in the superior quadrants in 8 eyes and in the inferior quadrants in 10 eyes,with macula-off detachments in 12 *** patients were followed-up for at least *** final retinal reattachment rate was 100%.The BCVA was significantly improved compared with the baseline(P0.05).Three patients had transiently high IOPs within one week after *** diplopia occurred in 5 patients after surgery and then disappeared after the balloon fluid was removed.●CONCLUSION:The success rate of FCB scleral buckling for RRD is *** procedure can be expected to be applied in new,uncomplicated cases of RRD.

关键词： rhegmatogenous retinal detachment scleral buckling foldable capsular buckle

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Successful management of severe hypoglycemia induced by total parenteral nutrition in patients with hepatocellular injury: Three cases reports

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World Journal of Clinical Cases 2024年第1期12卷 157-162页

作者： Ling-Zhi fang Hui-xin Jin Na Zhao Yu-Pei Wu Ying-Qin Shi Department of Pharmacy Hebei Key Laboratory of Clinical PharmacyHebei General HospitalShijiazhuang 050051Hebei ProvinceChina

BACKGROUND Glucose imbalance is common in total parenteral nutrition(TPN).Hypoglycemia seems to be less frequent than hyperglycemia,but it influences the clinical outcome to a greater ***,it should be effectively prevented and ***,there is no relevant report on how to treat hypoglycemia caused by TPN in patients with liver cell *** SUMMARY We present three patients with liver cell injury who developed severe hypo-glycemia during or after TPN *** causes of severe hypoglycemia and glucose-raising strategies were *** to the physiological charac-teristics of the hepatocellular injury,the ratio of nutrition components prescribed in TPN was appropriately adjusted for the three *** simultaneously reduced the dose of insulin and fat emulsion,and increased the dose of glucose in *** blood glucose level was restored to normal range and clinical symptoms were *** When hypoglycemia occurs during or after TPN in patients with hepatocellular injury,physicians need to simultaneously reduce insulin and fat emulsion,and increase glucose,and correct severe hypoglycemia in time to reduce its adverse consequences.

关键词： Total parenteral nutrition Hepatocellular injury Severe hypoglycemia Treatment Causes Case report

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How to apply ex-vivo split liver transplantation safely and feasibly: A three-step approach

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World Journal of Gastrointestinal Surgery 2024年第6期16卷 1691-1699页

作者： Dong Zhao Qiu-Hua Xie Tai-Shi fang Kang-Jun Zhang Jian-xin Tang Xu Yan xin Jin Lin-Jie Xie Wen-Gui Xie Department of Liver Surgery and Organ Transplantation Center Shenzhen Third People’s HospitalThe Second Affiliated HospitalSchool of MedicineSouthern University of Science and TechnologyShenzhen 518112Guangdong ProvinceChina Department of Organ Procurement Organizations Shenzhen Third People’s HospitalThe Second Affiliated HospitalSchool of MedicineSouthern University of Science and TechnologyShenzhen 518112Guangdong ProvinceChina

BACKGROUND Given the current organ shortage crisis,split liver transplantation(SLT)has emerged as a promising alternative for select end-stage liver disease *** To introduce an ex-vivo liver graft splitting approach and evaluate its safety and feasibility in *** A retrospective analysis was conducted on the liver transplantation data from cases performed at our center between April 1,2022,and May 31,*** study included 25 SLT cases and 81 whole liver transplantation(WLT)*** ex-vivo liver splitting was employed for SLT graft procurement in three *** outcomes were determined,including liver function parameters,postoperative complications,and perioperative *** comparisons for categorical variables were performed using theχ²-*** In the study,postoperative complications in the 25 SLT cases included hepatic artery thrombosis(n=1)and pulmonary infections(n=3),with no perioperative *** contrast,among the 81 patients who underwent WLT,complications included perioperative mortality(n=1),postoperative pulmonary infections(n=8),abdominal infection(n=1),hepatic artery thromboses(n=3),portal vein thrombosis(n=1),and intra-abdominal bleeding(n=5).Comparative analysis demonstrated significant differences in alanine aminotransferase(176.0 vs 73.5,P=0.000)and aspartate aminotransferase(AST)(42.0 vs 29.0,P=0.004)at 1 wk postoperatively,and in total bilirubin(11.8 vs 20.8,P=0.003)and AST(41.5 vs 26.0,P=0.014)at 2 wk ***,the overall incidence of complications was comparable between the two groups(P>0.05).CONCLUSION Our findings suggest that the total ex-vivo liver graft splitting technique is a safe and feasible approach,especially under the expertise of an experienced transplant *** approach developed by our center can serve as a valuable reference for other transplantation centers.

关键词： Split liver transplantation Transplantation Liver splitting Ex-vivo In-situ

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Hsa_circ_0007099 and PIP4K2A coexpressed in diffuse large B-cell lymphoma with clinical significance

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Genes & Diseases 2024年第4期11卷 98-101页

作者： Jinghan Wang xin Ku Qiuling Ma Haikuo Li Sujuan Huang Liping Mao fang Yu Jie Jin Wei Yan Department of Hematology The First Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310003China Key Laboratory of Hematologic Malignancies Diagnosis and TreatmentHangzhouZhejiang 310003China Zhejiang Provincial Clinical Research Center for Hematologic Diseases HangzhouZhejiang 310003China Cancer Center Zhejiang UniversityHangzhouZhejiang 310003China Shanghai Center for Systems Biomedicine Key Laboratory of Systems Biomedicine(Ministry of Education)Shanghai JiaoTong UniversityShanghai 200240China The Second School of Clinical Medicine Henan University of Chinese MedicineZhengzhouHenan 450046China Department of Pathology The First Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310003China

Diffuse large B-cell lymphoma(DLBCL)is the most common subtype of B-cell lymphoma in adult *** to the clinical and molecular heterogeneity of DLBCL patients,robust biomarkers in clinical practice are still ***,the int... 详细信息

关键词： clinical lymphoma patients

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Research progress and challenges in stem cell therapy for diabetic foot: Bibliometric analysis and perspectives

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World Journal of Stem Cells 2024年第1期16卷 33-53页

作者： Hong-Shuo Shi xin Yuan fang-fang Wu Xiao-Yu Li Wei-Jing Fan Xiao Yang Xiao-Ming Hu Guo-Bin Liu Department of Peripheral Vascular Surgery Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese MedicineShanghai 250021China

BACKGROUND Stem cell therapy has shown great potential for treating diabetic foot(DF).AIM To conduct a bibliometric analysis of studies on the use of stem cell therapy for DF over the past two decades,with the aim of depicting the current global research landscape,identifying the most influential research hotspots,and providing insights for future research *** We searched the Web of Science Core Collection database for all relevant studies on the use of stem cell therapy in *** analysis was carried out using CiteSpace,VOSviewer,and R(4.3.1)to identify the most notable *** A search was conducted to identify publications related to the use of stem cells for DF treatment.A total of 542 articles published from 2000 to 2023 were *** United States had published the most papers on this *** this field,Iran’s Shahid Beheshti University Medical Sciences demonstrated the highest ***,*** from the same university has been an outstanding researcher in this *** Cell Research&Therapy is the journal with the highest number of publications in this *** main keywords were“diabetic foot ulcers,”“wound healing,”and“angiogenesis.”CONCLUSION This study systematically illustrated the advances in the use of stem cell therapy to treat DF over the past 23 *** research findings suggested that the hotspots in this field include stem cell dressings,exosomes,wound healing,and adipose-derived stem *** research should also focus on the clinical translation of stem cell therapies for DF.

关键词： Stem cells Diabetic foot Bibliometric CiteSpace VOSviewer R-bibliometrix

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