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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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Industrialization progress and challenges of cultivated meat

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Journal of Future Foods 2024年第2期4卷 119-127页

作者： Jiaqi Cai Shouwei Wang Yingying Li Shengyan Dong Jun Liang Yisen Liu Shilei Li China Meat Research Center Beijing 100068China Beijing Academy of Food Sciences Beijing 100068China College of Light Industry Science and Engineering Tianjin University of Science&TechnologyTianjin 300457China

With its more sustainable production mode and higher healthy food supplying,cultivated meat is gradually regarded as the promising alternative meat food in future by human beings.Most of the countries in the planet had participated in the cut-throat competition for sustainable protein searching,especially for the regions with low food self-sufficiency rate.In this paper,by reviewing the commercial market participation,product development stage,and technical research progress related to cultivated meat in detail,we demonstrated the industrialization progress of cultivated meat and explored the challenges of cultivated meat in the near future.1)Seeded cell and serum free medium were the basic raw materials,which were directly related to the food safety regulation,production cost control and productivity improvement;2)Bioreactor and regulation were the cornerstone of industrialization,which were closely related to the capacity expansion,product marketing;3)Technological improvements in taste,texture,safety,scale,cost were the foundation of realizing product iterative upgrade and market acceptance.

关键词： Cultivated meat Industrialization Progress challenge

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challenge and future of cancer screening in China: Insights from esophageal cancer screening practice

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Chinese Journal of Cancer Research 2023年第6期35卷 584-594页

作者： Zhonghu He Yang Ke State Key Laboratory of Molecular Oncology Beijing Key Laboratory of Carcinogenesis and Translational ResearchDepartment of GeneticsPeking University Cancer Hospital&InstituteBeijing 100142China

Cancer stands as a prominent public health concern in China, with elusive intervention targets due to unidentified high-risk causal factors for most cancers. Consequently, emphasis has shifted towards screening, diagnosing, and treating early cancer cases within the general population. However, China faces considerable obstacles in its cancer prevention and control efforts, attributing to the complexity and heterogeneity of the occurrence, progression, and prognosis of malignant tumors across populations, time, and regions. Taking esophageal cancer screening practices as an example, this review outlines the importance and assessment of cancer screening, delineating major challenges in China's cancer prevention and control: 1) limited comprehension of cancer's natural history;2) lack of “China Evidence” supporting screening effectiveness and value;3) compromised efficiency and accuracy in current screening modality;and 4) insufficient sustainability of the current screening practices and translation of relevant scientific research achievements. To address these challenges, we propose potential coping strategies: 1)establishing tailored technologies and pathways for cancer prevention and control based on population-based and clinical epidemiological studies using high-quality designs;2) breaking conventional constraints to establish a novel cancer screening strategy aligned with real-world needs;and 3) establishing enhanced communication platforms among scientific research teams, policymakers, and industrial institutions to foster collaboration and innovation.

关键词： Cancer screening China challenge coping strategy esophageal cancer

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Necrotic enteritis challenge regulates peroxisome proliferator-1 activated receptors signaling and β-oxidation pathways in broiler chickens

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Animal Nutrition 2021年第1期7卷 239-251页

作者： Kosar Gharib-Naseri Sara de Las Heras-Saldana Sarbast Kheravii Lihong Qin Jingxue Wang Shu-Biao Wu School of Environment and Rural Science University of New EnglandArmidaleNSW2351Australia Animal Science and Husbandary Branch Jilin Academy of Agricultural SciencesGongzhulingJilin136100China College of Life Sciences Shanxi UniversityTaiyuanShanxi030006China

Necrotic enteritis(NE)is an important enteric disease in poultry and has become a major concern in poultry production in the post-antibiotic era.The infection with NE can damage the intestinal mucosa of the birds leading to impaired health and,thus,productivity.To gain a better understanding of how NE impacts the gut function of infected broilers,global mRNA sequencing(RNA-seq)was performed in the jejunum tissue of NE challenged and non-challenged broilers to identify the pathways and genes affected by this disease.Briefly,to induce NE,birds in the challenge group were inoculated with 1 mL of Eimeria species on day 9 followed by 1 mL of approximately 108 CFU/mL of a NetB producing Clostridium per-fringens on days 14 and 15.On day 16,2 birds in each treatment were randomly selected and euthanized and the whole intestinal tract was evaluated for lesion scores.Duodenum tissue samples from one of the euthanized birds of each replicate(n=4)was used for histology,and the jejunum tissue for RNA extraction.RNA-seq analysis was performed with an Illumina RNA HiSeq 2000 sequencer.The differ-entially expressed genes(DEG)were identified and functional analysis was performed in DAVID to find protein-protein interactions(PPI).At a false discovery rate threshold<0.05,a total of 377 DEG(207 upregulated and 170 downregulated)DEG were identified.Pathway enrichment analysis revealed that DEG were considerably enriched in peroxisome proliferator-activated receptors(PPAR)signaling(P<0.01)andβ-oxidation pathways(P<0.05).The DEG were mostly related to fatty acid metabolism and degradation(cluster of differentiation 36[CD36],acyl-CoA synthetase bubblegum family member-1[ACSBG1],fatty acid-binding protein-1 and-2[FABP1]and[FABP2];and acyl-coenzyme A synthetase-1[ACSL1]),bile acid production and transportation(acyl-CoA oxidase-2[ACOX2],apical sodium-bile acid transporter[ASBT])and essential genes in the immune system(interferon-,[IFN-γ],LCK proto-oncogene,Src family tyrosine kinase[LCK],zeta chain of T cell receptor associated protein kin

关键词： Necrotic enteritis Clostridium perfringens Transcriptome Fatty acid metabolism Broiler challenge

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challenge-driven design for public housing： The case of Hong Kong

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Frontiers of Architectural Research 2016年第2期5卷 213-224页

作者： Ying Deng Edwin H.W. Chan S.W. Poon Department of Building and Real Estate The Hong Kong Polytechnic University Kowloon Hong KongChina

Public housing （PH） has existed in Hong Kong for six decades. Previous and current challenges that have been encountered over time function as a coffective driver for design progression. However, such challenges have remained under research to be able to draw useful lessons from them. To understand how this established motif can suit the sustainability-conscious era, this study uses Hong Kong as a representative case for sub-tropical compact cities by critiquing its PH design against multiple constraints. The objective of this study is to trace the historical relationships between challenges and design progress as well as to assess current and future implications of sustainability trends on PH design. By synthesizing data from literature, policy documents, and empirical evidence, this research develops an evolution map for PH design in Hong Kong that is driven by seven major challenges. Based on this map, a conceptual framework for intersecting considerations that envisaaes five main future prospects toward future PH desien is also established.

关键词： Public housing challenge Design progress Hong Kong Sustainability

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Introduction to the benchmark challenge on common rail pressure control of gasoline direct injection engines

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Control Theory and Technology 2019年第2期17卷 167-175页

作者： Qifang LIU Jinlong HONG Bingzhao GAO Hong CHEN State Key Laboratory of Automotive Simulation and Control Changchun Jilin 130025China Department of Control Science and Engineering Jilin UniversityChangchun Jilin 130025China

As one of the most important actuators for gasoline direct injection technology,common rail systems provide the requested rail pressure for fuel injection.Special system characteristics,such as coupled discrete-continuous dynamic in the common rail system,limited measurable states,and time-varying engine operating conditions,impel the combination of advanced methods to obtain the desired injection pressure.Therefore,reducing the pressure fluctuation and satisfying engineering implementation have become noteworthy issues for rail pressure control(RPC)systems.In this study,the benchmark problem and the design specification of RPC proposed by 2018 IFAC E-CoSM Committee are introduced.Moreover,a common rail system model is provided to the challengers,and a traditional PI control is applied to show the problem behaviors.Finally,intermediate results of the challengers are summarized briefly.

关键词： Common rail pressure control gasoline direct injection engine control system design benchmark challenge

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Early child development: a challenge in China

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World Journal of Pediatrics 2019年第1期15卷 1-3页

作者： Jie Shao Children's Hospital Zhejiang University School of MedicineHangzhouChina

Early childhood development has been linked with adult health and wellbeing.It is a necessary component of the sustainable development goals (SDGs) [1,2],which are conceptualized from a lifespan perspective.Neuroscience researches in the past two decades have elucidated that the period from conception through early childhood (i.e.,at least the first 3 years) is foundational for brain development [3].Children acquire an orderly progression of skills that form the blueprint for subsequent development.Epigenetic,immunological,physiological,and psychological adaptations to the environment occur during this period,and these adaptations affect development throughout the life course [4].Risks including poverty,stunting,and nutritional deficiencies contribute to inequities in children's development [5],resulting in over 200 million children under 5 years of age in low-and middle-income countries not reaching their developmental potential,leading to an average deficit of 19.8% in adult annual income [3].Quality interventions in the early years of children have long-term beneficial effects with cost efficiency,including reductions in violence [6],depression and social inhibition,improving adult health,competence (e.g.,learning and academic attainment),and subsequently economic productivity [7,8].

关键词： Early child development challenge

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Puzzle and challenge in Differentiating Immunoglobulin G4？related Cholangitis from Hilar Cholangiocarcinoma

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Chinese Medical Journal 2017年第21期130卷 2641-2642页

作者： Hai-Jie Hu Rong-Xing Zhou Anuj Shrestha Yong Zhou Fu-Yu Li Department of Biliary Surgery West China Hospital of Sichuan University Chengdu Sichuan 610041 China Department of General Surgery Gandaki Medical College Pokhara 33700 Nepal

Immunoglobulin G4 （IgG4）-related cholangitis （IAC） is one of the IgG4-related immune-mediated diseases. Although a study has provided a preliminary insight into its pathological mechanisms, the specific pathogenes... 详细信息

关键词： Puzzle challenge

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Current status and challenge in clinical work of autism spectrum disorders in China

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World Journal of Pediatrics 2018年第3期14卷 209-211页

作者： Zhi-Wei Zhu Yan Jin Ling-Ling Wu Xiao-Lin Liu Department of Developmental and Behavioral Pediatrics Children's HospitalZhejiang University School of MedicineNo.3333 Binsheng RoadHangzhou 310052China

Autism spectrum disorders (ASDs) are a group of neurodevelopmentaldisorders featured by social communicationand interaction deficits, and with limited interests andrepetitive behaviors. In China, ASDs was first reported byTao from Nanjing Brain Hospital in the early 1980s [ 1 , 2 ].Since then, more children with autism have been diagnosed.While the past more than 30 years have witnessed steadygrowth in ASD research and clinical diagnosis and interventionin China, there are still many challenges to overcome.In this article, we will present the current status of prevalence,screening and diagnosis of ASD in China and proposefurther eff orts for practitioners and policy-makers to secureoptimal outcomes for children with ASD.

关键词： Current status challenge

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challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders

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World Journal of Gastroenterology 2023年第14期29卷 2114-2126页

作者： Yi-Gui Zou Huan Wang Wen-Wen Li Dong-Ling Dai Key Laboratory for Precision Diagnosis and Treatment of Pediatric Digestive System Diseases and Endoscopy Center Shenzhen Children's HospitalShenzhen 518026Guangdong ProvinceChina

The clinical scenario of pediatric liver disease is becoming more intricate due to changes in the disease spectrum,in which an increasing number of inherited/metabolic liver diseases are reported,while infectious diseases show a decreasing trend.The similar clinical manifestations caused by inherited/metabolic diseases might be under-recognized or misdiagnosed due to nonspecific characteristics.A delayed visit to a doctor due to a lack of symptoms or mild symptoms at an early stage will result in late diagnosis and treatment.Moreover,limited diagnostic approaches,especially liver biopsy,are not easily accepted by pediatric patients,leading to challenges in etiological diagnosis.Liver dysfunction due to inherited/metabolic diseases is often caused by a variety of metabolites,so precision treatment is difficult;symptomatic treatment is a compelling option for inherited disorders.

关键词： Hepatitis Genetic Liver disease Cholestasis challenge Pediatric

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