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medical genetics:Towards precision medicine

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Journal of genetics and Genomics 2018年第2期45卷 55-56页

作者： Peng Jin Department of Human genetics Emory University School of MedicineAssociation of Chinese Geneticists in America

medical genetics is defined as a branch of medicine that involves the diagnosis and management of hereditary disorders by applying genetics to medical *** Human Genome Project,initiated in1990 and completed in 2004,has profoundly changed biology and is rapidly catalyzing a transformation of medical genetics and medicine in general（Collins and McKusick,2001;Green and Guyer,2011）.

关键词： medical genetics:Towards precision medicine ctDNA

The forty years of medical genetics in China

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Journal of genetics and Genomics 2018年第11期45卷 569-582页

作者： Lei Cai Lan Alice Zheng Lin He Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education)Collaborative Innovation Center for Genetics and DevelopmentShanghai Jiao Tong UniversityShanghai 200240China Shanghai Center for Women and Children's Health Shanghai 200062China Stanley Center Broad InstituteCambridgeMA 02142USA

medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy,Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a wellconstructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection,along with strong support at the national industry level.

关键词： medical genetics GWAS CRISPR Cancer Monogenic diseases Complex diseases Genetic diagnosis Gene therapy

Practice and thinking of the integrated curriculum of medical genetics and embryonic development

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medical Bulletin of Shanghai Jiaotong University 2015年第1期27卷 92-97页

作者： Ming-min GU Zhi-de DING Hong XU Lei HUANG Zhao-yuan HOU Ying-yin NI Course Team of medical genetics Shanghai Jiao Tong University School of Medicine Course Team of Histology and Embryology Shanghai Jiao Tong University School of Medicine Course Team of Biochemistry Shanghai Jiao Tong University School of Medicine

Objective To draw a conclusion from the experience on the integrated curriculum of medical genetics and embryonic development set up for the eight-year clinical medicine,and to lay the foundation for its application to the five-year clinical medicine. Methods The advantages and disadvantages of the integrated curriculumof medical genetics and embryonic development were analyzed with the comparative analysis method. And opinions of students of the eight-year clinical medicine on the teaching of the current integrated curriculum were learnt about with questionnaires. Results The current integrated curriculum of medical genetics and embryonic development has basically achieved the goal of simplifying the original teaching contents and the crossing and integration of the related discipline contents,the overall student satisfaction is high. Conclusion The integrated curriculum of medical genetics and embryonic development is helpful for the integral optimization of the medical curriculum framework,which can be expanded to the five-year clinical medicine in the future.

关键词： medical genetics and embryonic development integrated curriculum education reform questionnaires

What is the purpose of launching the World Journal of medical genetics?

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World Journal of medical genetics 2011年第1期1卷 1-3页

作者： Hans van Bokhoven Department of Human genetics Molecular Neurogenetics UnitNijmegen Centre for Molecular Life Sciences and Donders Institute for BrainCognition and BehaviourRadboud University Nijmegen Medical Centre6500 HB NijmegenThe Netherlands

Congratulations to the publisher,members of the editorial board of the journal,all the authors and readers for launching the World Journal of medical genetics(WJMG)as a new member of the World series journal family!Following the completion of the Human Genome Project,medical genetic research has seen spectacular progress over the last *** number of genes that have been linked to Mendelian human traits has grown exponentially and currently this process is peaking with the access to robust genome-wide sequencing *** genomics revolution is also seen for elucidation of rare and common DNA variants that increase risk for common *** this fast progress,there is an increasing need for making the results of genetics and genomics studies rapidly and freely available to the larger ***,the decision for inaugurating this new journal is a timely *** WJMG is a peer-reviewed,open-access periodical centered in all aspects of medical genetics research,with multidisciplinary coverage:from human phenotype to genetic and genomic mutations and variations to the study of pathological *** you want to share new results of your research with a link to medical genetics with your peers,you will find the WJMG a good media to publish your papers!

关键词： medical genetics Genomics Biomedical sciences Peer-reviewed Open-access Journal

Journal of genetics and Genomics in 2023:progresses and beyond

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Journal of genetics and Genomics 2024年第1期51卷 1-2页

作者： Xiu-Fen Song Xiaoxuan Guo Jing Zhao Yutian Zhang Yuan Qin Jianru Zuo Journal of genetics and Genomics Institute of Genetics and Developmental BiologyChinese Academy of Sciences&the Genetics Society of ChinaBeijing 100101China

Journal of genetics and Genomics(JGG),launched in 1974,celebrates its 50th birthday in *** continuous support from our authors,reviewers,readers,and the editorial board,JGG has made remarkable progress in the past year by publishing 122 papers covering major disciplines in life sciences and medical genetics with exciting *** is worthwhile to note that we have recruited 66 young talents to join JGG as junior editors,resulting in significant improvement in manuscript evaluation and journal ***,we summarize major progresses reported in JGG in 2023 fromaneditorial view.

关键词： journal beyond promotion

Paroxysmal Kinesigenic Dyskinesia:genetics and Pathophysiological Mechanisms

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Neuroscience Bulletin 2024年第7期40卷 952-962页

作者： Jiao-Jiao Xu Hong-Fu Li Zhi-Ying Wu Department of medical genetics and Center for Rare Diseases The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009China Department of Neurology in the Second Affiliated Hospital Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhou 310009China

Paroxysmal kinesigenic dyskinesia(PKD),the most common type of paroxysmal movement disorder,is characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary *** is mainly caused by mutations in the PRRT2 or TMEM151A *** exact pathophysiological mechanisms of PKD remain unclear,although the function of PRRT2 protein has been well characterized in the last *** on abnormal ion channels and disturbed synaptic transmission in the absence of PRRT2,PKD may be channelopathy or synaptopathy,or *** addition,the cerebellum is regarded as the key pathogenic *** depolarization in the cerebellum is tightly associated with dyskinetic ***,in PKD,other than the cerebellum,the role of the cerebrum including the cortex and thalamus needs to be further investigated.

关键词： Paroxysmal kinesigenic dyskinesia PRRT2 TMEM151A genetics Pathophysiological mechanisms

Photo-activated microtubule targeting drugs: Advancing therapies for colorectal cancer

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World Journal of Gastroenterology 2024年第26期30卷 3257-3260页

作者： Naresh Singh Samantha Sharma Department of medical and Molecular genetics Indiana University School of MedicineIndianapolisIN 46202United States

Over the years immunotherapy has demonstrably improved the field of cancer ***,achieving long-term survival for colorectal cancer(CRC)patients remains a significant unmet *** immunotherapies incor-porating targeted drugs like MEK or multi-kinase inhibitors have offered some palliative ***,substantial gaps remain in the current therapeutic armamentarium for *** recent years,there has been a surge of interest in exploring novel treatment strategies,including the application of light-activated drugs in conjunction with optical *** approach holds promise for achie-ving localized and targeted delivery of cytotoxic agents,such as microtubule-targeting drugs,directly to cancerous cells within the colon.

Nrf2-mediated ferroptosis of spermatogenic cells involved in male reproductive toxicity induced by polystyrene nanoplastics in mice

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2024年第4期25卷 307-323页

作者： Xufeng FU Hang HAN Hong YANG Bo XU Wenjie DAI Ling LIU Tiantian HE Xing DU Xiuying PEI Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education School of Basic Medical SciencesNingxia Medical UniversityYinchuan 750004China Key Laboratory of Reproduction and genetics in Ningxia Ningxia Medical UniversityYinchuan 750004China

Microplastics(MPs)and nanoplastics(NPs)have become hazardous materials due to the massive amount of plastic waste and disposable masks,but their specific health effects remain *** this study,fluorescence-labeled polystyrene NPs(PS-NPs)were injected into the circulatory systems of mice to determine the distribution and potential toxic effects of NPs in ***,whole-body imaging found that PS-NPs accumulated in the testes of ***,the toxic effects of PS-NPs on the reproduction systems and the spermatocytes cell line of male mice,and their mechanisms,were *** oral exposure to PS-NPs,their spermatogenesis was affected and the spermatogenic cells were *** spermatocyte cell line GC-2 was exposed to PS-NPs and analyzed using RNA sequencing(RNA-seq)to determine the toxic mechanisms;a ferroptosis pathway was found after PS-NP *** phenomena and indicators of ferroptosis were then determined and verified by ferroptosis inhibitor ferrostatin-1(Fer-1),and it was also found that nuclear factor erythroid 2-related factor 2(Nrf2)played an important role in spermatogenic cell ferroptosis induced by ***,it was confirmed in vivo that this mechanism of Nrf2 played a protective role in PS-NPs-induced male reproductive *** study demonstrated that PS-NPs induce male reproductive dysfunction in mice by causing spermatogenic cell ferroptosis dependent on Nrf2.

关键词： Polvstyrene nanoplastics(PS-NPs) Reproductive toxicity Ferroptosis Nuclear factor ervthroid 2-related factor 2(Nrf2)

Mitochondrial DNA methylation and mitochondria-related epigenetics in neurodegeneration

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Neural Regeneration Research 2024年第2期19卷 405-406页

作者： Fabio Coppedè Department of Translational Research and of New Surgical and medical Technologies Laboratory of Medical GeneticsUniversity of PisaPisaItaly、Interdepartmental Research Center of Biology and Pathology of AgingUniversity of PisaPisaItaly

Mitochondria are cytoplasmic organelles referred to as the powerhouse of the cell because they are primarily involved in oxidative phosphorylation and energy *** are particularly abundant in tissues with high energy demands,including muscle,liver,and brain,and mitochondrial dysfunction,oxidative mitochondrial DNA(mtDNA)damage,and impaired mitochondrial dynamics have often been associated with neurodegeneration.

关键词： impaired neurodegeneration oxidative