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Study on Family Collection, Gene Mapping, Gene Identification and Gene Function of Human Genetic Diseases

Xia Jiahui

Strategic Study of CAE 2000, Volume 2, Issue 11,   Pages 1-11

Abstract:

In this paper, the study on family collection, gene mapping, gene identification and gene functiont (1; 3) (q44; p11) associated with nasopharyngeal cancer was found in 1975 at first, and human TDF geneIn 1998, GJB3, a human genetic neurological deafness gene, was identified using a novel strategy of “Gene Family-Candidate Disease Gene Cloning”,and the paper was published in Nature Geneticswas also cloned from gene function study.

Keywords: genetic disease     gene mapping and cloning     gene familiy-candidate disease gene cloning     genome wide scan     gene function study    

et’s disease in a Chinese population

Shengping Hou, Aize Kijlstra, Peizeng Yang

Frontiers of Medicine 2012, Volume 6, Issue 4,   Pages 354-359 doi: 10.1007/s11684-012-0234-2

Abstract: et’s disease is defined as a multisystemic inflammatory disease.et’s disease. To explore the genetic factors for Beh?et’s disease, our group investigated the association of Beh?et’s disease-related immunoregulatory pathways in the Chinese Han population.A large number of gene polymorphisms were studied including STAT4, IL23R, CD40, CCR1

Keywords: et’s disease     SNPs     immune gene     genetic study    

The role of natriuretic peptide precursor A gene polymorphism in the development of coronary heart disease

Ripen NSENGA MD, Longxian CHENG PhD, Mei’an HE PhD, Tangchun WU PhD,

Frontiers of Medicine 2009, Volume 3, Issue 4,   Pages 437-442 doi: 10.1007/s11684-009-0074-x

Abstract: Rs5065 NPPA gene polymorphism leads to the translation of NPPA with two additional arginines and hasThe purpose of the present study was to investigate the relationship between the rs5065 NPPA gene polymorphismand the risk of coronary heart disease (CHD) in Chinese Han population.We genotyped the single nucleotide polymorphism (SNP) rs5065 NPPA in the human NPPA gene in 1861 sex-Our results suggest that the C allele of rs5065 NPPA gene polymorphism may be associated with the risk

Keywords: natriuretic peptide precursor A     coronary heart disease     gene polymorphism     allelic discrimination     polymorphism    

Exome sequencing greatly expedites the progressive research of Mendelian diseases

Xuejun Zhang

Frontiers of Medicine 2014, Volume 8, Issue 1,   Pages 42-57 doi: 10.1007/s11684-014-0303-9

Abstract: Combining exome sequencing with linkage studies is one of the most efficient strategies in searching diseaseWES has achieved great success in the past three years for Mendelian disease genetics and has identifiedover 150 new Mendelian disease genes.With an affordable cost, WES is expected to become the most commonly used tool for Mendelian diseasegene identification.

Keywords: genetics     whole-exome sequencing     Mendelian disease     disease gene    

Potential functions of esophageal cancer-related gene-4 in the cardiovascular system

Rui Zhou, Yuanshu Liu, Wenjun Huang, Xitong Dang

Frontiers of Medicine 2019, Volume 13, Issue 6,   Pages 639-645 doi: 10.1007/s11684-019-0701-0

Abstract: Esophageal cancer-related gene-4 ( ) is cloned from the normal epithelium of the esophagus.correlated with the malignant phenotype of tumor cells, validating that is a real tumor suppressor gene

Keywords: tumor suppressor gene     esophageal cancer-related gene-4     cardiovascular disease     hypoxia    

Gene and protein expression of proteinase-activated receptor-1, 2 in a murine model of acute graft hostdisease

Quan LI MD , Weiming LI MD , Ping ZOU MD , Jian ZHANG BM ,

Frontiers of Medicine 2009, Volume 3, Issue 3,   Pages 309-315 doi: 10.1007/s11684-009-0043-4

Abstract: However, little is known about the function of PAR-1, 2 in acute graft host disease (GVHD).The relative gene expression level of PAR-1 was significantly increased in the skin, liver, small intestine

Keywords: graft vs host disease     proteinase-activated receptor     murine model     hematopoietic stem cell transplantation    

Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation

Jing Ma, Shiyu Chen, Lili Hao, Wei Sheng, Weicheng Chen, Xiaojing Ma, Bowen Zhang, Duan Ma, Guoying Huang

Frontiers of Medicine 2021, Volume 15, Issue 1,   Pages 91-100 doi: 10.1007/s11684-020-0778-5

Abstract: Congenital heart disease (CHD) is the most common birth defect worldwide.We used Gene Expression Omnibus data mining, bioinformatics analysis, and analysis of clinical tissue

Keywords: congenital heart disease     Gene Expression Omnibus     lncRNA SAP30-2:1     cell proliferation     RNA immunoprecipitation    

Molecular engineering of dendrimer nanovectors for siRNA delivery and gene silencing

Yu Cao, Xiaoxuan Liu, Ling Peng

Frontiers of Chemical Science and Engineering 2017, Volume 11, Issue 4,   Pages 663-675 doi: 10.1007/s11705-017-1623-5

Abstract: Small interfering RNA (siRNA) therapeutics hold great promise to treat a variety of diseases, as long as they can be delivered safely and effectively into cells. Dendrimers are appealing vectors for siRNA delivery by virtue of their well-defined molecular architecture and multivalent cooperativity. However, the clinical translation of RNA therapeutics mediated by dendrimer delivery is hampered by the lack of dendrimers that are of high quality to meet good manufacturing practice standard. In this context, we have developed small amphiphilic dendrimers that self-assemble into supramolecular structures, which mimic high-generation dendrimers synthesized with covalent construction, yet are easy to produce in large amount and superior quality. Indeed, the concept of supramolecular dendrimers has proved to be very promising, and has opened up a new avenue for dendrimer-mediated siRNA delivery. A series of self-assembling supramolecular dendrimers have consequently been established, some of them out-performing the currently available nonviral vectors in delivering siRNA to various cell types and , including human primary cells and stem cells. This short review presents a brief introduction to RNAi therapeutics, the obstacles to their delivery and the advantages of dendrimer delivery vectors as well as our bio-inspired structurally flexible dendrimers for siRNA delivery. We then highlight our efforts in creating self-assembling amphiphilic dendrimers to construct supramolecular dendrimer nanosystems for effective siRNA delivery as well as the related structural alterations to enhance delivery efficiency. The advent of self-assembling supramolecular dendrimer nanovectors holds great promise and heralds a new era of dendrimer-mediated delivery of RNA therapeutics in biomedical applications.

Keywords: gene therapy     RNAi therapeutics     dendrimer     nanovectors     gene silencing    

The antibiotic resistome: gene flow in environments, animals and human beings

Yongfei Hu, George F. Gao, Baoli Zhu

Frontiers of Medicine 2017, Volume 11, Issue 2,   Pages 161-168 doi: 10.1007/s11684-017-0531-x

Abstract: We propose that the resistance gene flow in nature is “from the natural environments” andand animals, as intermediate recipients and disseminators, contribute greatly to such a resistance gene

Keywords: antibiotic resistance     resistome     microbiome     gene flow    

Reflections on the system of evaluation of gene-edited livestock

Ziyao FAN, Tianwen WU, Kui WU, Yulian MU, Kui LI

Frontiers of Agricultural Science and Engineering 2020, Volume 7, Issue 2,   Pages 211-217 doi: 10.15302/J-FASE-2019303

Abstract: functions regarding economic traits, and new materials for livestock breeding have been obtained through geneembryo manipulation with the purpose of improving quality and output and reducing the costs and risk of diseaseEvaluation is the most important component of the regulation of gene-edited livestock and is a crucialguarantee of public safety before the marketing of gene-edited animal products.Here, the system of evaluation of gene-edited livestock is discussed in terms of public safety and production

Keywords: evaluation     gene editing     livestock     performance     safety    

Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation

Frontiers of Medicine 2022, Volume 16, Issue 4,   Pages 627-636 doi: 10.1007/s11684-020-0815-4

Abstract: Then, based on RNA-seq data from The Cancer Genome Atlas AML cohort, we developed a 300-gene signatureThis study revealed the distinct gene expression pattern of RUNX1 mutations and the underlying

Keywords: RUNX1     gene mutation     acute myeloid leukemia     transcriptional repression     DNA methylation    

Construction of lentiviral vector carrying Rab9 gene and its expression in mouse brain

Youguo HAO, Min ZHANG, Jinzhi XU, Bitao BU, Jiajun WEI

Frontiers of Medicine 2009, Volume 3, Issue 2,   Pages 141-147 doi: 10.1007/s11684-009-0041-6

Abstract: To explore the possibility of Rab9-related gene therapy for neurodegenerative diseases, we packed LentivirusWestern blotting revealed that the Rab9 gene expression in BALB/c mice brain was up-regulated significantlyAdministration of Lenti-Rab9 to postnatal day 3 Niemann-Pick disease type C (NPC) mice reduced motorLentivirus encoding Rab9 can increase the expression of Rab9 gene effectively, which might offer a novel

Keywords: Rab9     lentivirus     gene therapy     gene transfer    

Gene delivery into isolated

Nan Zheng, Ziyuan Song, Yang Liu, Lichen Yin, Jianjun Cheng

Frontiers of Chemical Science and Engineering 2017, Volume 11, Issue 4,   Pages 521-528 doi: 10.1007/s11705-017-1612-8

Abstract: The application of gene delivery materials has been mainly focused on mammalian cells while rarely extendedThis study therefore widens the utilities of helical polypeptide as a unique category of gene deliverymaterials, and may find their promising applications toward plant gene delivery.

Keywords: α-helical polypeptide     plant gene delivery     protoplast     intact leaves     transfection    

Profiling influences of gene overexpression on heterologous resveratrol production in

Duo Liu,Bingzhi Li,Hong Liu,Xuejiao Guo,Yingjin Yuan

Frontiers of Chemical Science and Engineering 2017, Volume 11, Issue 1,   Pages 117-125 doi: 10.1007/s11705-016-1601-3

Abstract: We overexpressed the main gene targets in the upstream pathways to investigate their influences on theSingle-gene overexpression and DNA assembly-directed multigene overexpression affect the production ofFinally, the collaboration of selected gene targets leads to an optimal resveratrol production of 66.14The newly discovered gene targets expressing phosphoribosylanthranilate isomerase, expressing 3-deoxy-D-arabino-heptulosonate

Keywords: resveratrol     aromatic amino acid     DNA assembly     metabolic engineering     gene overexpression    

Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity

Chuanfeng Wu, Cynthia E. Dunbar

Frontiers of Medicine 2011, Volume 5, Issue 4,   Pages 356-371 doi: 10.1007/s11684-011-0159-1

Abstract: Virus-based vectors are widely used in hematopoietic stem cell (HSC) gene therapy, and have the abilityTo date, HSC gene therapy has been successfully employed in the clinic for improving clinical outcomesadenosine deaminase deficiency (ADA-SCID), adrenoleukodystrophy (ALD), thalassemia, chronic granulomatous diseaseHowever, adverse events were observed during some of these HSC gene therapy clinical trials, linked tomechanisms of insertional mutagenesis in hematopoietic stem and progenitor cells due to integrating gene

Keywords: gene therapy     hematopoietic stem cells     insertional mutagenesis     genotoxicity     induced pluripotent stem cell    

Title Author Date Type Operation

Study on Family Collection, Gene Mapping, Gene Identification and Gene Function of Human Genetic Diseases

Xia Jiahui

Journal Article

et’s disease in a Chinese population

Shengping Hou, Aize Kijlstra, Peizeng Yang

Journal Article

The role of natriuretic peptide precursor A gene polymorphism in the development of coronary heart disease

Ripen NSENGA MD, Longxian CHENG PhD, Mei’an HE PhD, Tangchun WU PhD,

Journal Article

Exome sequencing greatly expedites the progressive research of Mendelian diseases

Xuejun Zhang

Journal Article

Potential functions of esophageal cancer-related gene-4 in the cardiovascular system

Rui Zhou, Yuanshu Liu, Wenjun Huang, Xitong Dang

Journal Article

Gene and protein expression of proteinase-activated receptor-1, 2 in a murine model of acute graft hostdisease

Quan LI MD , Weiming LI MD , Ping ZOU MD , Jian ZHANG BM ,

Journal Article

Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation

Jing Ma, Shiyu Chen, Lili Hao, Wei Sheng, Weicheng Chen, Xiaojing Ma, Bowen Zhang, Duan Ma, Guoying Huang

Journal Article

Molecular engineering of dendrimer nanovectors for siRNA delivery and gene silencing

Yu Cao, Xiaoxuan Liu, Ling Peng

Journal Article

The antibiotic resistome: gene flow in environments, animals and human beings

Yongfei Hu, George F. Gao, Baoli Zhu

Journal Article

Reflections on the system of evaluation of gene-edited livestock

Ziyao FAN, Tianwen WU, Kui WU, Yulian MU, Kui LI

Journal Article

Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation

Journal Article

Construction of lentiviral vector carrying Rab9 gene and its expression in mouse brain

Youguo HAO, Min ZHANG, Jinzhi XU, Bitao BU, Jiajun WEI

Journal Article

Gene delivery into isolated

Nan Zheng, Ziyuan Song, Yang Liu, Lichen Yin, Jianjun Cheng

Journal Article

Profiling influences of gene overexpression on heterologous resveratrol production in

Duo Liu,Bingzhi Li,Hong Liu,Xuejiao Guo,Yingjin Yuan

Journal Article

Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity

Chuanfeng Wu, Cynthia E. Dunbar

Journal Article