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Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer

World Journal of Gastroenterology 2009年第8期15卷 983-989页

作者： Jian-Qiu Sheng Hong Zhang Min Ji Lei Fu Hong Mu Ming-Zhi Zhang Ji-Sheng Huang Min Han Ai-Qin Li Zhi Wei zi-Qin Sun zi-tao wu Chang-Hong Xia Shi-Rong Li Department of Gastroenterology General Hospital of Beijing Military Command Beijing 100700 China Department of Gastroenterology Chinese PLA 253 Hospital Hohhot 010051 Inner Mongolian Autonomous Region China Department of Ontology First Affiliated Hospital Zhengzhou University Zhengzhou 450052 Henan Province China Shangqiu People's Hospital Shangqiu 476000 Henan Province China Department of Gastroenterology General Hospital of Jinan Military Command Jinan 250034 Shandong Province China

AIM: To study the characteristics of mismatch repair gene mutation of Chinese hereditary non-polyposis colorectal cancer (HNPCC) and hMLH1 gene promoter methylation, and to improve the screening strategy and explore the pertinent test methods. METHODS: A systematic analysis of 30 probands from HNPCC families in the north of China was performed by immunohistochemistry, microsatellite instability (MSI), gene mutation and methylation detection. RESULTS: High frequency microsatellite instability occurred in 25 probands (83.3%) of HNPCC family. Loss of hMLH1 and hMSH2 protein expression accounted for 88% of all microsatellite instability. Pathogenic muta-tion occurred in 14 samples and 3 novel mutational sites were discovered. Deletion of exons 1-6, 1-7 and 8 of hMSH2 was detected in 3 samples and no large fragment deletion was found in hMLH1. Of the 30 probands, hMLH1 gene promoter methylation occurred in 3 probands. The rate of gene micromutation detection combined with large fragment deletion detection was 46.7%-56.7%. The rate of the two methods in combination with methylation detection was 63.3%. CONCLUSION: Scientific and rational detection strategy can improve the detection rate of HNPCC. Based on traditional molecular genetics and combined with epigenetics, multiple detection methods can accurately diagnose HNPCC.

关键词： Hereditary non-polyposis colorectal cancer Gene mutation Mismatch repair hMSH2 hMLH1 Large fragment deletion Methylation

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Pig H3K4me3,H3K27ac,and gene expression profiles reveal reproductive tissue-specific activity of transposable elements

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Zoological Research 2024年第1期45卷 138-151页

作者： tao Jiang Zhi-Min Zhou zi-Qi Ling Qing Zhang Zhong-zi wu Jia-Wen Yang Si-Yu Yang Bin Yang Lu-Sheng Huang National Key Laboratory of Pig Genetic Improvement and Germplasm Innovation Jiangxi Agricultural UniversityNanchangJiangxi 330045China

Regulatory sequences and transposable elements(TEs)account for a large proportion of the genomic sequences of species;however,their roles in gene transcription,especially tissue-specific expression,remain largely *** serve as an excellent animal model for studying genomic sequence biology due to the extensive diversity among their wild and domesticated ***,we conducted an integrated analysis using H3K27ac ChIP-seq,H3K4me3 ChIP-seq,and RNA-seq data from 10 different tissues of seven fetuses and eight closely related adult *** aimed to annotate the regulatory elements and TEs to elucidate their associations with histone modifications and mRNA expression across different tissues and developmental *** on correlation analysis between mRNA expression and H3K27ac and H3K4me3 peak activity,results indicated that H3K27ac exhibited stronger associations with gene expression than ***,1.45%of TEs overlapped with either the H3K27ac or H3K4me3 peaks,with the majority displaying tissue-specific ***,a TE subfamily(LTR4C_SS),containing binding motifs for SIX1 and SIX4,showed specific enrichment in the H3K27ac peaks of the adult and fetal ***-seq analysis also revealed widespread expression of TEs in the exons or promoters of genes,including 4688 TE-containing transcripts with distinct development stage-specific and tissue-specific *** note,1967 TE-containing transcripts were enriched in the *** identified a long terminal repeat(LTR),MLT1F1,acting as a testis-specific alternative promoter in SRPK2(a cell cycle-related protein kinase)in our pig *** element was also conserved in humans and mice,suggesting either an ancient integration of TEs in genes specifically expressed in the testes or parallel evolutionary ***,our findings demonstrate that TEs are deeply embedded in the genome and exhibit important tissue-specific biological functions,particularly in the reproductive

关键词： Transposable elements Porcine Histone modification Alternative promoter TE-containing transcript

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Diabetes mellitus in patients with type 1 autoimmune pancreatitis at diagnosis and after corticosteroid therapy

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Hepatobiliary & Pancreatic Diseases International 2024年第4期23卷 393-398页

作者： Mei-zi Li tao Guo Yun-Lu Feng Sheng-Yu Zhang Xiao-Yin Bai Xi wu Kai Xu Ai-Ming Yang Department of Gastroenterology State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalPeking Union Medical College and Chinese Academy of Medical SciencesBeijing 100730China Department of Radiology Peking Union Medical College HospitalPeking Union Medical College and Chinese Academy of Medical SciencesBeijing 100730China

Background:A high prevalence of diabetes mellitus(DM)coexisting with autoimmune pancreatitis(AIP)is ***,evidence on the circumstances under which corticosteroid therapy(CST)for AIP improves or worsens DM is *** study aimed to demonstrate and identify predictors of DM control under the influence of ***:Patients diagnosed with type 1 AIP were enrolled from a prospectively maintained cohort and were classified into three groups according to the chronology in which AIP and DM were diagnosed:pre-existing DM(pDM),concurrent DM(cDM),and non-DM(nDM).The responses of DM to CST were assessed when corticosteroid was ceased or tapered to a maintenance dose and classified as‘improvement’and‘non-improvement’(including‘no change’and‘exacerbation’).Results:Among 101 patients with type 1 AIP,52(51.5%)patients were complicated with DM at the time of AIP diagnosis,with 36 patients in the cDM group and 16 patients in the pDM *** incidences of diffuse pancreatic swelling(72.2%)and pancreatic body/tail involvement(91.7%)were significantly higher in the cDM group than in both the pDM and nDM *** the 52 patients with DM,CST was administered in 48 *** logistic analysis identified that elevated serum gamma-glutamyl transferase(GGT)level at AIP diagnosis[odds ratio(OR)=0.032,95%confidence interval(CI):0.003-0.412,P=0.008]and pancreatic atrophy after CST(OR=0.027,95%CI:0.003-0.295,P=0.003)were negatively associated with DM control ***:Patients with diffuse pancreatic swelling and pancreatic body/tail involvement in pancreatitis tended to be complicated with cDM at AIP *** exerted a beneficial effect on the clinical course of DM in nearly half of the AIP patients complicated with DM at diagnosis,particularly in those without elevated serum GGT levels at diagnosis and who did not experience pancreatic atrophy after CST.

关键词： Type 1 autoimmune pancreatitis Diabetes mellitus Corticosteroid therapy Predictive factor Pancreatic atrophy

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Research advances in smart responsive-hydrogel dressings with potential clinical diabetic wound healing properties

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Military Medical Research 2024年第4期11卷 543-566页

作者： Ying Chen Xing Wang Sheng tao Qi Wang Pan-Qin Ma zi-Biao Li Yun-Long wu Da-Wei Li Fujian Provincial Key Laboratory of Innovative Drug Target Research and State Key Laboratory of Cellular Stress Biology School of Pharmaceutical SciencesXiamen UniversityXiamen 361102FujianChina Beijing National Laboratory for Molecular Sciences Institute of ChemistryChinese Academy of SciencesBeijing 100090China University of Chinese Academy of Sciences Beijing 100049China Senior Department of Orthopedics the Fourth Medical Center of Chinese PLA General HospitalBeijing 100091China Institute of Materials Research and Engineering A*STAR(Agency for ScienceTechnology and Research)Singapore 138634Singapore

The treatment of chronic and non-healing wounds in diabetic patients remains a major medical *** reports have shown that hydrogel wound dressings might be an effective strategy for treating diabetic wounds due to their excellent hydrophilicity,good drug-loading ability and sustained drug release *** a typical example,hyaluronic acid dressing(Healoderm)has been demonstrated in clinical trials to improve wound-healing efficiency and healing rates for diabetic foot ***,the drug release and degradation behavior of clinically-used hydrogel wound dressings cannot be adjusted according to the wound *** to the intricacy of diabetic wounds,antibiotics and other medications are frequently combined with hydrogel dressings in clinical practice,although these medications are easily hindered by the hostile *** this case,scientists have created responsive-hydrogel dressings based on the microenvironment features of diabetic wounds(such as high glucose and low pH)or combined with external stimuli(such as light or magnetic field)to achieve controllable drug release,gel degradation,and microenvironment improvements in order to overcome these clinical *** responsive-hydrogel dressings are anticipated to play a significant role in diabetic therapeutic wound ***,we review recent advances on responsive-hydrogel dressings towards diabetic wound healing,with focus on hydrogel structure design,the principle of responsiveness,and the behavior of *** but not least,the advantages and limitations of these responsive-hydrogels in clinical applications will also be *** hope that this review will contribute to furthering progress on hydrogels as an improved dressing for diabetic wound healing and practical clinical application.

关键词： Responsive-hydrogel Diabetic wound Anti-inflammation Tissue remodeling

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Almost Periodic Type Group Actions on Compact Quantum Metric Spaces

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Acta Mathematica Sinica,English Series 2024年第2期40卷 568-594页

作者： Bo tao LONG Wei wu College of Mathematics MIIT Key Laboratory of Mathematical Modelling and High Performance Computing of Air VehiclesNanjing University of Aeronautics and AstronauticsNanjing 211106P.R.China School of Mathematical Sciences Shanghai Key Laboratory of Pure Mathematics and Mathematical PracticeEast China Normal UniversityShanghai 200241P.R.China

A compact quantum metric space is a complete order unit space A endowed with a Lipnorm *** give some characterizations of almost periodic type group actions on a compact quantum metric space(A,L)by means of several kinds of subsets of A,its induced equicontinuous actions on several important subsets of the dual Banach space A*,and the Lip-norm L with its induced metric space structures on the state space S(A)of A.

关键词： Lip-norm compact quantum metric space Lipschitz isomorphism almost periodicity Arzela-Ascoli theorem metric set

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Patient-derived induced pluripotent stem cells with a MERTK mutation exhibit cell junction abnormalities and aberrant cellular differentiation potential

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World Journal of Stem Cells 2024年第5期16卷 512-524页

作者： Hang Zhang Ling-zi wu Zhen-Yu Liu zi-Bing Jin Beijing Institute of Ophthalmology Beijing Tongren Eye CenterBeijing Tongren HospitalCapital Medical UniversityBeijing 100730China

BACKGROUND Human induced pluripotent stem cell(hiPSC)technology is a valuable tool for generating patient-specific stem cells,facilitating disease modeling,and invest-igating disease ***,iPSCs carrying specific mutations may limit their clinical applications due to certain inherent *** To investigate the impact of MERTK mutations on hiPSCs and determine whether hiPSC-derived extracellular vesicles(EVs)influence anomalous cell junction and differentiation *** We employed a non-integrating reprogramming technique to generate peripheral blood-derived hiPSCs with and hiPSCs without a MERTK ***-somal karyotype analysis,flow cytometry,and immunofluorescent staining were utilized for hiPSC *** and proteomics were employed to elucidate the expression patterns associated with cell junction abnormalities and cellular differentiation ***,EVs were isolated from the supernatant,and their RNA and protein cargos were examined to investigate the involvement of hiPSC-derived EVs in stem cell junction and *** The generated hiPSCs,both with and without a MERTK mutation,exhibited normal karyotype and expressed pluripotency markers;however,hiPSCs with a MERTK mutation demonstrated anomalous adhesion capability and differentiation potential,as confirmed by transcriptomic and proteomic ***,hiPSC-derived EVs were involved in various biological processes,including cell junction and *** HiPSCs with a MERTK mutation displayed altered junction characteristics and aberrant differentiation ***,hiPSC-derived EVs played a regulatory role in various biological processes,including cell junction and differentiation.

关键词： Cell junction Cellular differentiation Extracellular vesicle Human induced pluripotent stem cells Transcriptomics Proteomics

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Microstructure and mechanical properties of a cast TRIP-assisted multiphase stainless steel

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China Foundry 2024年第3期21卷 221-228页

作者： Meng-xin Wang zi-xiang wu Jing-yu He Xiang Chen School of Materials Science and Engineering Tsinghua UniversityBeijing 100084China Key Laboratory for Advanced Materials Processing Technology Ministry of EducationBeijing 100084China

Stainless steels are used in a wide range of complex environments due to their excellent corrosion *** stainless steels can offer an excellent combination of strength,toughness and corrosion resistance due to the coexistence of different *** microstructure and mechanical properties of a novel cast multiphase stainless steel,composed of martensite,ferrite,and austenite,were investigated following appropriate heat treatment processes:solution treatment at 1,050℃ for 0.5 h followed by water quenching to room temperature,and aging treatment at 500℃ for 4 h followed by water quenching to room *** show reversed austenite is formed by diffusion of Ni element during aging process,and the enrichment of Ni atoms directly determines the mechanical stability of *** austenite with a lower Ni content undergoes a martensitic transformation during plastic *** tensile strength of the specimen exceeds 1,100 MPa and the elongation exceeds 24%after solid solution,and further increases to 1,247 MPa and 25%after aging *** enhancement is due to the TRIP effect of austenite and the precipitation of the nanoscale G-phase pinning dislocations in ferrite and martensite.

关键词： multiphase stainless steel mechanical properties TRIP effect reversed austenite G-phase

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Nonreciprocal generation of Schrodinger cat state induced by topology

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Science China(Physics,Mechanics & Astronomy) 2024年第4期67卷 23-30页

作者： zi-Hao Li Li-Li Zheng Ying wu Xin-You Lü School of Physics and Institute for Quantum Science and Engineering Huazhong University of Science and Technologyand Wuhan Institute of Quantum TechnologyWuhan 430074China Key Laboratory of Optoelectronic Chemical Materials and Devices of Ministry of Education Jianghan UniversityWuhan 430074China

The Schrodinger cat state produced differently in two directions is anticipated to be a critical quantum resource in quantum information *** exploring the interplay between quantum nonreciprocity and topology in a one-dimensional microcavity array,we obtain the Schrodinger cat state(a pure quantum state)in a chosen direction at the edge cavity,whereas a classical state in the other *** nonreciprocal generation of the cat state originates from the topologically protected chiralitymode excitation in the nontrivial phase,but in the trivial phase,the nonreciprocal generation of cat state ***,our proposal is switchable by tuning the parameters so that a topological phase transition ***,the obtained cat state has nonreciprocal high fidelity,nonclassicality,and quantum coherence,which are sufficient to be used in various one-way quantum technologies,e.g.,invisible quantum sensing,noise-tolerant quantum computing,and chiral quantum *** work provides a general approach to control quantum nonreciprocities with the topological effect,which substantially broadens the fields of nonreciprocal photonics and topological physics.

关键词： Schr?dinger cat state nonreciprocity topology

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Chain Dynamics Heterogeneity in Plasticized Poly(vinyl butyral)(PVB) as Elucidated by Solid-State NMR

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Chinese Journal of Polymer Science 2024年第1期42卷 113-124,I0010页

作者： Jing Lv Xu Chen zi-Shuo wu Ya-Hui Li Wei Chen National Synchrotron Radiation Laboratory Anhui Provincial Engineering Laboratory of Advanced Functional Polymer FilmCAS Key Laboratory of Soft Matter ChemistryUniversity of Scienceand Technology of ChinaHefei 230026China

The chain dynamics heterogeneity of the poly(vinyl butyral)(PVB) plasticized by triethylene glycol bis(2-ethylhexa noate)(TEG-EH) was investigated by various solid-state NMR *** plasticized PVB shows two domains in distinct molecular dynamics differences,namely,rigid and soft domains,where the latter is the plasticizer-rich *** time domain low field NMR was first used to investigate the dynamics heterogeneity of the plasticized PVB,and the results show the decreasing activated energy of components in the soft domain of plasticized PVB(E_a=20.2 kJ/mol) as compared with that of the pristine one(E_a=24.3 kJ/mol).Detailed dynamics heterogeneity was obtained by high-field NMR with site-specific *** quadrupole-echo ~2H-NMR was adopted to elucidate the dynamics heterogeneity of the vinyl alcohol(VA) units,where only the hydroxyl group of VA is *** ~1H-^(13)C WISE NMR spectra show that there is not much difference in the mobility of the VB unit in PVB with and without plasticizer,whereas the glass transition temperature differed by approximately 53℃.This is further supported by Torchia's T_1 relaxation *** origin of such an unusual phenomenon is attributed to the critical role of the remaining VA(~22%) in the soft domain,where the VA units locally aggregate through hydrogen ***,the existence of a mobility gradient in the VB unit has been ***,the mobility difference for VB with different stereo-geometry(meso or racemic conformation) is observed for the first *** indicates the importance of modulating the ratio of meso over racemic VB for controlling the macroscopic perfo rmance of PVB.

关键词： Poly(vinyl butyral) Dynamics heterogeneity Plasticizer Solid state NMR

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P_(c)(4457)Interpreted as a J^(P)=1/2+State byD^(0)∧_(c)^(+)(2595)-π^(0)P_(c)(4312)Interaction

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Chinese Physics Letters 2024年第9期41卷 23-27页

作者： Jin-zi wu Jin-Yi Pang Jia-Jun wu School of Physics Sciences University of Chinese Academy of SciencesBeijing 100049China Columbian College of Arts&Sciences George Washington University80122nd St.NW Washington DC 20052USA College of Science University of Shanghai for Science and TechnologyShanghai 200093China Southern Center for Nuclear-Science Theory Institute of Modern PhysicsChinese Academy of SciencesHuizhou 516000China

P_(c)(4457)has been discovered over five years,but the parity of this particle remains *** propose a new interpretation for P_(c)(4457),which is the state generated from the coupled-channel D^(0)Ac+(2595)andπ^(0)P_(c)(4312)since they can exchange an almost on-shell∑_(c)^(+).In this scenario,the parity of P_(c)(4457)will be positive,which is different from the candidate of the bound state of D*∑_(c).The main decay channel of P_(c)(4457)in this model is Pc(4312)π.We propose three processes∧_(b)^(0)→J/ψKapπ^(-),∧_(b)^(0)→J/ψK-pπ^(0),and∧_(b)^(0)→J/ψpπ^(-)π^(+)k^(-)to verify Pc(4457)→Pc(4312)π.

关键词： (0 parity verify

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