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Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice

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Science China(Life Sciences) 2024年第7期67卷 1325-1337页

作者： Chengcheng Song Yingying Qin Yan Li Bingyi Yang Ting Guo Wenqing Ma Dian Xu Keyan Xu Fangfang Fu Li Jin Yanhua Wu Shuyan Tang Xiaojun Chen Feng Zhang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Medical Genetics and GenomicsFudan UniversityShanghai 200011China Human Phenome institute Zhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China Center for Reproductive Medicine Cheeloo College of MedicineShandong UniversityJinan 250021China State Key Laboratory of Reproductive Medicine and Offspring health Key Laboratory of Reproductive Endocrinology of Ministry of EducationNational Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong Key Laboratory of Reproductive MedicineShandong Provincial Clinical Research Center for Reproductive HealthShandong UniversityJinan 250021China Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China National Demonstration Center for Experimental Biology Education School of Life SciencesFudan UniversityShanghai 200433China Department of Gynecology the Tenth People’s Hospital of Tongji UniversityShanghai 200072China soong ching ling institute of maternity and child health International Peace Maternity and Child Health Hospital of China Welfare InstituteShanghai 200030China

Premature ovarian insufficiency(POI)is a heterogeneous female disorder characterized by the loss of ovarian function before the age of *** represents a significant detriment to female ***,the known POI-causative genes currently account for only a fraction of *** elucidate the genetic factors underlying POI,we conducted whole-exome sequencing on a family with three fertile POI patients and identified a deleterious missense variant in *** a subsequent replication study involving 1,030 POI patients,this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 *** variants collectively account for eight cases,representing 0.78%of the study cohort.A further study involving 500 patients with diminished ovarian reserve also identified two additional RNF111 ***,RNF111 encodes an E3 ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling *** analysis revealed that RNF111/RNF111 is predominantly expressed in the oocytes of mice,monkeys,and *** further investigate the functional implications of RNF111 variants,we generated two mouse models:one with a heterozygous missense mutation(Rnf111+/M)and another with a heterozygous null mutation(Rnf111^(+/-)).Both mouse models exhibited impaired female fertility,characterized by reduced litter sizes and small ovarian ***,RNA-seq and quantitative proteomics analysis unveiled that Rnf111 haploinsufficiency led to dysregulation in female gonad development and negative regulation of the BMP signaling pathway within mouse *** conclusion,our findings strongly suggest that monoallelic deleterious variants in RNF111 can impair female fertility and induce POI in both humans and mice.

关键词： POI RNF111 female fertility ovarian reserve

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Study of tree shrew biology and models: A booming and prosperous field for biomedical research

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Zoological Research 2024年第4期45卷 877-909页

作者： Yong-Gang Yao Li Lu Rong-Jun Ni Rui Bi Ceshi Chen Jia-Qi Chen Eberhard Fuchs Marina Gorbatyuk Hao Lei Hongli Li Chunyu Liu Long-Bao Lv Kyoko Tsukiyama-Kohara Michinori Kohara Claudia Perez-Cruz Gregor Rainer Bao-Ci Shan Fang Shen An-Zhou Tang Jing Wang Wei Xia Xueshan Xia ling Xu Dandan Yu Feng Zhang Ping Zheng Yong-Tang Zheng Jumin Zhou Jiang-Ning Zhou Key Laboratory of Genetic Evolution and Animal Models Yunnan Key Laboratory of Animal Models and Human Disease MechanismsKunming Institute of ZoologyChinese Academy of SciencesKunmingYunnan 650204China National Research Facility for Phenotypic&Genetic Analysis of Model Animals(Primate Facility) and National Resource Center for Non-Human PrimatesKunming Institute of ZoologyChinese Academy of SciencesKunmingYunnan 650107China KIZ-CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases Kunming Institute of ZoologyChinese Academy of SciencesKunmingYunnan 650204China Kunming College of Life Science University of Chinese Academy of SciencesKunmingYunnan 650204China Mental health Center and Psychiatric Laboratory West China HospitalSichuan UniversityChengduSichuan 610041China Sichuan Clinical Medical Research Center for Mental Disorders ChengduSichuan 610044China German Primate Center Leibniz Institute of Primate ResearchGöttingen 37077Germany Department of Optometry and Vision Science School of OptometryUniversity of Alabama at BirminghamBirminghamAL 35294USA State Key Laboratory of Magnetic Resonance and Atomic and Molecular Physics Innovation Academy for Precision Measurement Science and TechnologyChinese Academy of SciencesWuhanHubei 430071China Wuhan National Laboratory for Optoelectronics Huazhong University of Science and TechnologyWuhanHubei 430074China soong ching ling institute of maternity and child health International Peace Maternity and Child Health HospitalShanghai Jiao Tong University School of MedicineShanghai 200030China Transboundary Animal Diseases Center Joint Faculty of Veterinary MedicineKagoshima UniversityKagoshima-cityKagoshima 890-8580Japan Department of Microbiology and Cell Biology Tokyo Metropolitan Institute of Medical ScienceTokyo 156-8506Japan Pharmacology Department CinvestavMexico City 07360Mexico Department of Medicine University of FribourgFribourg CH-1700Switzerland Beijing Engineering Research Center of Radiog

The tree shrew(Tupaia belangeri)has long been proposed as a suitable alternative to non-human primates(NHPs)in biomedical and laboratory research due to its close evolutionary relationship with *** recent years,significant advances have facilitated tree shrew studies,including the determination of the tree shrew genome,genetic manipulation using spermatogonial stem cells,viral vector-mediated gene delivery,and mapping of the tree shrew brain ***,the limited availability of tree shrews globally remains a substantial challenge in the ***,determining the key questions best answered using tree shrews constitutes another *** shrew models have historically been used to study hepatitis B virus(HBV)and hepatitis C virus(HCV)infection,myopia,and psychosocial stress-induced depression,with more recent studies focusing on developing animal models for infectious and neurodegenerative *** these efforts,the impact of tree shrew models has not yet matched that of rodent or NHP models in biomedical *** review summarizes the prominent advancements in tree shrew research and reflects on the key biological questions addressed using this *** emphasize that intensive dedication and robust international collaboration are essential for achieving breakthroughs in tree shrew *** use of tree shrews as a unique resource is expected to gain considerable attention with the application of advanced techniques and the development of viable animal models,meeting the increasing demands of life science and biomedical research.

关键词： Tree shrew Animal model Neurodegenerative diseases Infectious diseases Neuroscience Phenome

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The Inclusive Spirit of soong ching ling

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China Today 2013年第1期62卷 45-47页

作者： LU PING the China Welfare institute the Shanghai soong ching ling Foundation China Reconstructs

It’s been 32 years now since soong ching ling, honorary president of the People’s Republic of China, left this world. Today, we continue to cherish her memory and value her contributions to mankind.

关键词：精神包容价值

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Eye-witness to a Momentous Event in Modern Chinese History

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China Today 2006年第12期55卷 42-45页

作者： HUANG HUA president of the China Society for Friendly Studies of the China Great Wall Society of the China Welfare Instituteof the Soong Ching Ling Foundationand of the China Society for International Friendly Contacts

Huang Hua, a veteran revolutionary and diplomat, was one of the witnesses to the successful junction of the Chinese Red Army forces in October, 1936. To commemorate the 70th anniversary of this historic event we have, with his permission, translated and excerpted the relevant chapter from Huang Hua’s memoirs, to be pub- lished by the World Knowledge Publishing House.

关键词：中国经济战略经济环境县域经济

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The Inclusive Spirit of soong ching ling

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今日中国·英文版 2013年第1期 45-47页

作者： LU PING the China Welfare institute the Shanghai soong ching ling Foundation China Reconstructs

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The Enduring Legacy of China’s First “First Lady”

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China Today 2013年第1期62卷 42-44页

作者： AI BAIYING the China Welfare institute

January 27 marks the 120th birthday of soong ching ling, one of China’s greatest philanthropists. Her legacy lives on in various grassroots charitable organizations that continue to help the underprivileged.

关键词：中国遗产公益事业弱势群体孙中山

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Tuition Fees for Higher Education and Intergenerational Mobility in China

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Frontiers of Economics in China-Selected Publications from Chinese Universities 2020年第3期15卷 396-432页

作者： Yuanyuan Chen Quanlin Liu Kun Wu institute for Advanced Research and Key Laboratory of Mathematical Economics of Ministry of EducationShanghai University of Finance and EconomicsShanghai 200433China School of Economics Shanghai University of Finance and EconomicsShanghai 200433China

This paper studies the impact of an increase in higher education tuition on intergenerational mobility in *** develop a theoretical model for the parental decision about the investment on education of children to illustrate the impact from the perspective of borrowing *** consider the Chinese college tuition and subsidy reform around 1986 as a quasi-natural experiment for identifying the policy effect of the reform on intergenerational educational mobility by using the data from the census of 2000 and the China Family Panel Studies(CFPS).We find that an increase in the education burden induced by the reform of college tuition has reduced intergenerational educational mobility,and it is more noticeable in regions with a relatively higher increment in the tuition *** results are robust with consideration of the co-residence bias,government investment in elementary education,and the higher education expansion.

关键词： tuition fees of higher education intergenerational educational mobility reform of college tuition and subsidy co-residence bias borrowing constraint

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Xenografting of human umbilical mesenchymal stem cells from Wharton’s jelly ameliorates mouse spinocerebellar ataxia type 1

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Translational Neurodegeneration 2019年第1期8卷 359-371页

作者： Pei-Jiun Tsai Chang-ching Yeh Wan-Jhen Huang Ming-Yuan Min Tzu-Hao Huang Tsui-ling Ko Pei-Yu Huang Tien-Hua Chen Sanford P.C.Hsu Bing-Wen soong Yu-Show Fu institute of Anatomy and Cell Biology School of MedicineNational Yang-Ming UniversityTaipeiTaiwanRepublic of China Trauma Center Department of SurgeryVeterans General HospitalTaipeiTaiwanRepublic of China Department of Critical Care Medicine Veterans General HospitalTaipeiTaiwanRepublic of China Department of Obstetrics and Gynecology Veterans General HospitalTaipeiTaiwanRepublic of China institute of Clinical Medicine National Yang-Ming UniversityTaipeiTaiwanRepublic of China Department of Obstetrics and Gynecology National Yang-Ming UniversityTaipeiTaiwanRepublic of China Department of Life Science National Taiwan UniversityTaipeiTaiwanRepublic of China School of Medicine I-Shou UniversityKaohsiungTaiwanRepublic of China institute of Physiology School of MedicineNational Yang-Ming UniversityTaipeiTaiwanRepublic of China Division of General Surgery Department of SurgeryVeterans General HospitalTaipeiTaiwanRepublic of China Department of Neurosurgery Neurological InstituteTaipei Veterans General HospitalTaipeiTaiwanRepublic of China School of Medicine National Yang-Ming UniversityTaipeiTaiwanRepublic of China Department of Neurology Shuang Ho Hospitaland Taipei Neuroscience InstituteTaipei Medical UniversityTaipeiTaiwanRepublic of China Department of Neurology Taipei Veterans General HospitalTaipeiTaiwanRepublic of China Brain Research Center National Yang-Ming UniversityTaipeiTaiwanRepublic of China Department of Anatomy and Cell Biology School of MedicineNational Yang-Ming UniversityNo.155Sec.2Li-Nung StreetTaipei 112TaiwanRepublic of China

Background:Spinocerebellar ataxia type 1(SCA1)is an autosomal dominant neurodegenerative disorder caused by the expansion of CAG repeats in ATXN1 gene resulting in an expansion of polyglutamine repeats in the ATXN1 ***,there has yet been any effective treatment so far for *** study investigated the feasibility of transplanting human umbilical mesenchymal stem cells(HUMSCs)into transgenic SCA1 mice containing an expanded uninterrupted allele with 82 repeats in the ATXN1-coding ***:106 human umbilical mesenchymal stem cells were transplanted into the cerebella at 1 month of ***:HUMSCs displayed significant ameliorating effects in SCA1 mice in terms of motor behaviors in balance beam test and open field test as compared with the untransplanted SCA1 *** transplantation effectively reduced the cerebellar atrophy,salvaged Purkinje cell death,and alleviated molecular layer *** studies showed higher amplitudes of compound motor action potentials as indicated by increasing neuronal-muscular response strength to stimuli after stem cell *** 5 months after transplantation,HUMSCs scattering in the mice cerebella remained viable and secreted cytokines without differentiating into neuronal or glia ***:Our findings provide hope for a new therapeutic direction for the treatment of SCA1.

关键词： Umbilical mesenchymal stem cells Cell transplantation SCA1

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The Life and Times of soong ching ling:an Evidence-based Approach

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China Today 2012年第4期61卷 65-65页

作者： SHEN HAIPING director of the General Office of the China Welfare institute Director General Office China Welfare Institute

Title: The Legendary Life of soong ching ling Author:He Dazhang 346 pages, paperback RMB 46 (Chinese edition) Published by the People’s Literature Publishing House in December 2011 PUT simply, China would not be the same today if soong ching ling, also known as Mme. Sun Yat-sen, had not played such an instrumental role in its founding and development.

关键词：生活心理作用孙中山

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The Enduring Legacy of China’s First “First Lady”

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今日中国·英文版 2013年第1期 42-44页

作者： AI BAIYING the China Welfare institute

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