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Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures

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Neural Regeneration Research 2025年第1期20卷 265-276页

作者： Yao Yuan Lingqi Yu Xudong Zhuang Dongjing Wen Jin He Jingmei Hong Jiayu Xie Shengan Ling Xiaoyue Du Wenfeng Chen Xinrui Wang Institute of Life Sciences College of Biological Science and EngineeringFuzhou UniversityFuzhouFujian ProvinceChina NHC Key Laboratory of technical Evaluation of Fertility Regulation for Non-human Primate(Fujian Maternity and Child Health hospital) FuzhouFujian ProvinceChina medical Research Center Fujian Maternity and Child Health HospitalCollege of Clinical Medicine for Obstetrics&Gynecology and PediatricsFujian Medical UniversityFuzhouFujian ProvinceChina department of Neurology and Institute of Neurology of The First Affiliated hospital Institute of Neuroscienceand Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian ProvinceChina

Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory *** develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause *** located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)*** addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive *** these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut *** found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in *** heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal *** Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.

关键词： ATP1A1 Atpα bang-sensitive paralysis Charcot-Marie-Tooth disease type 2 CRISPR/Cas9 homology-directed repair Na^(+)/K^(+)-ATPase point mutation seizures sodium pump

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Single-cell omics: experimental workflow, data analyses and applications

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Science China Life Sciences 2025年第1期68卷 5-102页

作者： Fengying Sun Haoyan Li Dongqing Sun Shaliu Fu Lei Gu Xin Shao Qinqin Wang Xin Dong Bin Duan Feiyang Xing Jun Wu Minmin Xiao Fangqing Zhao Jing-Dong J.Han Qi Liu Xiaohui Fan Chen Li Chenfei Wang Tieliu Shi department of Clinical Laboratory the Affiliated Wuhu Hospital of East China Normal University (The Second People's Hospital of Wuhu City) Pharmaceutical Informatics Institute College of Pharmaceutical SciencesZhejiang University Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration (Tongji university) Ministry of EducationOrthopaedic DepartmentTongji HospitalBioinformatics DepartmentSchool of Life Sciences and TechnologyTongji University Frontier Science Center for Stem Cells School of Life Sciences and TechnologyTongji University Translational medical Center for Stem Cell Therapy and Institute for Regenerative Medicine Shanghai East HospitalBioinformatics DepartmentSchool of Life Sciences and TechnologyTongji University Research Institute of Intelligent Computing Zhejiang Lab Shanghai Research Institute for Intelligent Autonomous Systems Center for Single-cell Omics School of Public HealthShanghai Jiao Tong University School of Medicine National Key Laboratory of Chinese Medicine Modernization Innovation Center of Yangtze River DeltaZhejiang University Center for Bioinformatics and Computational Biology Shanghai Key Laboratory of Regulatory Biologythe Institute of Biomedical Sciences and School of Life SciencesEast China Normal University Beijing Institutes of Life Science Chinese Academy of Sciences Peking-Tsinghua Center for Life Sciences Academy for Advanced Interdisciplinary StudiesCenter for Quantitative Biology (CQB)Peking University Zhejiang Key Laboratory of Precision Diagnosis and Therapy for Major Gynecological Diseases Women's HospitalZhejiang University School of Medicine Key Laboratory of Advanced Theory and Application in Statistics and Data Science-MOE School of StatisticsEast China Normal University

Cells are the fundamental units of biological systems and exhibit unique development trajectories and molecular features. Our exploration of how the genomes orchestrate the formation and maintenance of each cell, and control the cellular phenotypes of various organismsis, is both captivating and intricate. Since the inception of the first single-cell RNA technology, technologies related to single-cell sequencing have experienced rapid advancements in recent years. These technologies have expanded horizontally to include single-cell genome, epigenome,proteome, and metabolome, while vertically, they have progressed to integrate multiple omics data and incorporate additional information such as spatial sc RNA-seq and CRISPR screening. Single-cell omics represent a groundbreaking advancement in the biomedical field,offering profound insights into the understanding of complex diseases, including cancers. Here, we comprehensively summarize recent advances in single-cell omics technologies, with a specific focus on the methodology section. This overview aims to guide researchers in selecting appropriate methods for single-cell sequencing and related data analysis.

关键词： single-cell sequencing genome epigenome proteomics metabolomics multimodal spatial transcriptomics CRISPR screening

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Therapy of gastric mucosa associated lymphoid tissue lymphoma

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World Journal of Gastroenterology 2007年第26期13卷 3554-3566页

作者： Andrea Morgner Renate Schmelz Christian Thiede Manfred Stolte Stephan Miehlke medical departmentⅠ University HospitalTechnical University DresdenGermany Institute for Pathology Academic Teaching Hospital BayreuthBayreuthGermany

Gastric mucosa associated lymphoid tissue （MALT） lymphoma has recently been incorporated into the World Health Organization （WHO） lymphoma classification, termed as extranodal marginal zone B-cell lymphoma of MALT-type. In about 90% of cases this lymphoma is associated with H pylori infection which has been dearly shown to play a causative role in lymphomagenesis. Although much knowledge has been gained in defining the clinical features, natural history, pathology, and molecular genetics of the disease in the last decade, the optimal treatment approach for gastric MALT lymphomas, especially locally advanced cases, is still evolving. In this review we focus on data for the therapeutic, stage dependent management of gastric MALT lymphoma. Hence, the role of eradication therapy, surgery, chemotherapy and radiotherapy is critically analyzed. Based on these data, we suggest a therapeutic algorithm that might help to better stratify patients for optimal treatment success.

关键词： Gastric lymphoma Mucosa-associatedlymphoid tissue H pylori Eradication Radiation Surgery Chemotherapy Molecular genetics

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Management of functional dyspepsia: Unsolved problems and new perspectives

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World Journal of Gastroenterology 2005年第42期11卷 6577-6581页

作者： Ahmed Madisch Stephan Miehlke Joachim Labenz medical department ⅰ technical university hospital dresden Germany medical department Ev. Jung-Stilling-hospital Academic Teaching Hospital of the University of Bonn Siegen Germany

The common characteristic criteria of all functional gastrointestinal(GI)disorders are the persistence and recurrence of variable gastrointestinal symptoms that cannot be explained by any structural or biochemical abnormalities. Functional dyspepsia (FD) represents one of the important GI disorders in Western countries because of its remarkably high prevalence in general population and its impact on quality of life. Due to its dependence on both subjective determinants and diverse country-specific circumstances, the definition and management strategies of FD are still variably *** trials with several drug classes (e.g., proton pump inhibitors, H2-blockers, prokinetic drugs) have been performed frequently without validated diseasespecific test instruments for the outcome ***, the interpretation of such trials remains difficult and controversial with respect to comparability and evaluation of drug efficacy, and definite conclusions can be drawn neither for diagnostic management nor for efficacious drug therapy so far. In view of these unsolved problems, guidelines both on the clinical management of FD and on the performance of clinical trials are needed. In recent years, increasing research work has been done in this area. Clinical trials conducted in adequately diagnosed patients that provided validated outcome measurements may result in better insights leading to more effective treatment *** perspectives have been recently performed by methodologically well-designed treatment studies with herbal drug preparations. Herbal drugs, given their proven efficacy in clinical trials, offer a safe therapeutic alternative in the treatment of FD which is often favored by both patients and physicians. A fixed combination of peppermint oil and caraway oil in patients suffering from FD could be proven effective by well-designed clinical trials.

关键词： Dyspepsia Functional dyspepsia Definition Diagnosis Management Drug efficacy Clinical trials Outcome measurements Herbal drugs

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Mutations of the AAAS gene in an Indian family with Allgrove's syndrome

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World Journal of Gastroenterology 2006年第29期12卷 4764-4766页

作者： Ashis Mukhopadhya Sumita Danda Angela Huebner Ashok Chacko department of Gastrointestinal Sciences Christian medical College VelloreIndia Children's hospital technical university dresden Germany

The triple A or AIIgrove＇s syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-AddisonianismAlacrima-Syndrome （AAAS） gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAAS gene and presented with the classical triad of symptoms. The mother and the brother were heterozygous and asymptomatic. The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. Recognition of this syndrome can lead to early treatment of adrenal insufficency and genetic counselling.

关键词： Allgrove's syndrome Triple A syndrome Autosomal recessive Genetic mutation India

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Helicobacter pyloriin gastric corpus of patients 20 years after partial gastric resection

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World Journal of Gastroenterology 2004年第17期10卷 2557-2559页

作者： Christian Kirsch Ahmed Madisch Petja Piehler Ekkehard Bayerdrffer Manfred Stolte Stephan Miehlke medical department I Technical University HospitalDresdenGermany Community department of Internal Medicine University HospitalMarburgGermany Institute of Pathology Klinikum BayreuthGermany

AIM:To determine the long-term prevalence of Helicobacter pylori(H pylori)gastritis in patients after partial gastric resection due to peptic ulcer,and to compare the severity of Hpylori-positive gastritis in the corpus mucosa between partial gastrectomy patients and matched controls. METHODS:Endoscopic biopsies were obtained from 57 patients after partial gastric resection for histological examination using hematoxylin/eosin and Warthin-Starry *** was graded according to the updated Sydney *** of corpus gastritis was compared between Hpylori-positive partial gastrectomy patients and Hpylori-positive duodenal ulcer patients matched for age and gender. RESULTS:In partial gastrectomy patients,surgery was performed 20 years(median)prior to *** 25 patients(43.8%)Hpyloriwas detected histologically in the gastric *** atrophy was more common in H pylori-positive compared to H pylori-negative partial gastrectomy patients(P<0.05).The severity of corpus gastritis was significantly lower in Hpylori-positive partial gastrectomy patients compared to duodenal ulcer patients (P<0.01).There were no significant differences in the activity of gastritis,atrophy and intestinal metaplasia between the two groups. CONCLUSION:The long-term prevalence of Hpylorigastritis in the gastric corpus of patients who underwent partial gastric resection due to peptic ulcer disease is comparable to the general *** expression of Hpylorigastritis in the gastric remnant does not resemble the gastric cancer phenotype.

关键词： Gastrectomy Helicobacter pylori Adult Aged Aged, 80 and over Female Gastric Mucosa Gastritis Helicobacter Infections Humans Male Middle Aged Peptic Ulcer Prevalence Severity of Illness Index Time Factors

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Eradication of H pylori for the prevention of gastric cancer

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World Journal of Gastroenterology 2006年第32期12卷 5101-5107页

作者： Karolin Trautmann Manfred Stolte Stephan Miehlke medical department Ⅰ technical university hospital Carl Gustav Carus DresdenGermany Institute for Pathology Klinikum Bayreuth Germany

Infection with H pylori is the most important known etiological factor associated with gastric cancer. While colonization of the gastric mucosa with H pylori results in active and chronic gastritis in virtually all individuals infected, the likelihood of developing gastric cancer depends on environmental, bacterial virulence and host specific factors. The majority of all gastric cancer cases are attributable to H pylori infection and therefore theoretically preventable. There is evidence from animal models that eradication of H pylori at an early time point can prevent gastric cancer development. However, randomized clinical trials exploring the prophylactic effect of Hpylori eradication on the incidence of gastric cancer in humans remain sparse and have yielded conflicting results. Better markers for the identification of patients at risk for H pylori induced gastric malignancy are needed to allow the development of a more efficient public eradication strategy. Meanwhile, screening and treatment of H pylori in first-degree relatives of gastric cancer patients as well as certain high-risk populations might be beneficial.

关键词： Gastric cancer Hpylori Eradication

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Impact of mobile health and medical applications on clinical practice in gastroenterology

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World Journal of Gastroenterology 2020年第29期26卷 4182-4197页

作者： Sven Kernebeck Theresa S Busse Maximilian D Bottcher Jurgen Weitz Jan Ehlers Ulrich Bork Didactics Educational Research in Health Science Faculty of HealthWitten/Herdecke UniversityWitten 58455Germany department of GI- Thoracic-and Vascular SurgeryDresden Technical UniversityUniversity Hospital DresdenDresden 01307Germany

Mobile health apps (MHAs) and medical apps (MAs) are becoming increasinglypopular as digital interventions in a wide range of health-related applications inalmost all sectors of healthcare. The surge in demand for digital medical solutionshas been accelerated by the need for new diagnostic and therapeutic methods inthe current coronavirus disease 2019 pandemic. This also applies to clinicalpractice in gastroenterology, which has, in many respects, undergone a recentdigital transformation with numerous consequences that will impact patients andhealth care professionals in the near future. MHAs and MAs are considered tohave great potential, especially for chronic diseases, as they can support the selfmanagementof patients in many ways. Despite the great potential associated withthe application of MHAs and MAs in gastroenterology and health care in general,there are numerous challenges to be met in the future, including both the ethicaland legal aspects of applying this technology. The aim of this article is to providean overview of the current status of MHA and MA use in the field ofgastroenterology, describe the future perspectives in this field and point out someof the challenges that need to be addressed.

关键词： Mobile health Health applications medical applications Technology Telemedicine Mobile applications Smartphone eHealth mHealth Digital biomarker Electronic health records

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3omorbidity and survival of patients selected for radica prostatectomy at an age of 75 years or older

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Asian Journal of Andrology 2013年第5期15卷 667-671页

作者： Michael Froehner Rainer Koch Manfred P Wirth departments of Urology University Hospital 'Carl Gustav Carus' Dresden University of Technology Dresden D-01307 Germany department of medical Statistics and Biometry University Hospital 'Carl Gustav Carus' Dresden University of Technology Dresden D-01307 Germany

Radical prostatectomy in elderly patients is controversial. To identify very old candidates for radical prostatectomy with the highest probability of long-term survival, we studied 47 consecutive men who underwent radical prostatectomy between 1992 and 2005 at an age of 75 years or older. A heuristic approach was used to search for subgroups with particularly high long-term survival. Several two-sided comorbidity measures and combinations of these measures were investigated to find classifications best identifying healthy, long-living elderly candidates for radical prostatectomy. Four of the 25 two-sided comorbidity classifications or combinations reached the significance level with hazard ratios between 4.00 and 4.80. After 10 years, patients identified as healthy patients according to these comorbidity measurements had exhibited relative survival rates between 129% and 137% and overall survival rates between 86% and 95%, whereas those with comorbidities had exhibited relative survival rates of only 66%-84% and overall survival rates of 44%-58%. In conclusion, classifying comorbidity may identify a meaningful proportion of men selected for radical prostatectomy at an age of 75 years or older with an excellent long-term survival probability superseding that of the general population.

关键词： comorbidity old age overall survival prostate cancer radical prostatectomy relative survival

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Disparities of conjugating protective enzyme activities in the colon of patients with adenomas and carcinomas

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World Journal of Gastroenterology 2013年第36期19卷 6020-6025页

作者： Harald P Hoensch Hennie MJ Roelofs Lutz Edler Wilhelm Kirch Wilbert HM Peters Internal Medicine Marien Hospital department of Gastroenterology Radboud University Nijmegen Medical Center Division of Biostatistics German Cancer Research Center department of Clinical Pharmacology Technical University of Dresden

AIM:To investigate the metabolic enzymatic capacity of the colon mucosa to detoxify noxious carcinogenic ***:We investigated the activity of 2 conjugating enzymes-the microsomal uridine glucuronosyltransferase(UGT)and the cytosomal glutathione S-transferase(GST)in the uninvolved mucosa of the colon transversum and sigmoideum in patients with adenomatous polyps and colorectal *** were taken from the mucosa during colonoscopies which were done for clinical(diagnostic)*** storage,the biopsy material was homogenized and after differential centrifugation the enzyme assays were performed with 4-nitrophenol(UGT)and 1-chloro 2,4-dinitrobenzene(GST)as ***:About 48 patients were included of which28 had adenomas and 20 had colorectal carcinomas confirmed by *** activities were expressed as nmol/mg per minute protein for the GST and as pmol/mg per minute protein for the *** of variance(F-test)indicated that both enzymes were more widely distributed in adenoma than in cancer *** means±SD were smaller for cancer patients:GST for adenomas 268±152 vs 241±69 for carcinomas and UGT for adenomas 197±200 vs 150±86 for ***:Compared to patients with adenomatous colon polyps those with colorectal carcinoma exhibited a lower capacity of detoxifying enzyme metabolism and their activities clustered over a smaller range.

关键词： Glutathione S-transferase UDP-glucuronosyltransferase Detoxification Colon adenoma Colon carcinoma

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