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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    

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A systematic survey of LU domain-containing proteins reveals a novel human gene, LY6A, which encodesthe candidate ortholog of mouse Ly-6A/Sca-1 and is aberrantly expressed in pituitary tumors

Frontiers of Medicine 2023, Volume 17, Issue 3,   Pages 458-475 doi: 10.1007/s11684-022-0968-4

Abstract: study of mouse and human LU domain-containing proteins, we identified a previously unannotated human geneencoding the candidate ortholog of mouse Ly-6A/Sca-1.This gene, hereby named LY6A, reversely overlaps with a lncRNA gene in the majority of exonicCollectively, these studies unveil a novel human gene encoding a candidate biomarker and provide an interestingmodel gene for studying gene regulatory and evolutionary mechanisms.

Keywords： LU domain-containing protein family     novel human gene     LY6A     pituitary tumor     biomarker     nonsynonymous    

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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    

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RR1 and RR2 gene deletion affects the immunogenicity of a live attenuated pseudorabiesvirus vaccine candidate in natural pig host

Shijun YAN,He YAN,Chaolin ZHANG,Tongyan WANG,Qingyuan YANG,Zhe SUN,Yan XIAO,Feifei TAN,Xiangdong LI,Kegong TIAN

Frontiers of Agricultural Science and Engineering 2016, Volume 3, Issue 1,   Pages 81-86 doi: 10.15302/J-FASE-2016088

Abstract: In this study, we deleted and genes based on a / / triple gene-deleted pseudorabies virus and testedits efficacy in pigs as a vaccine candidate.

Keywords： pseudorabies virus     RR1 and RR2     ribonucleotide reductase     vaccine candidate    

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662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

QU Yanchun, YANG Ze, SUN Liang, JI Linong

Frontiers of Medicine 2008, Volume 2, Issue 3,   Pages 283-285 doi: 10.1007/s11684-008-0053-7

Abstract: The aim of this paper is to report a new coding variance of the gene, a candidate for autoimmune diseaseswithout changing the amino acid coding, the variance may have an effect on codon usage and play a role in disease

Keywords： D-HPLC mutation     development     autoimmune     PCR-RFLP     candidate    

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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    

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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    

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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    

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Cloning of human XAF1 gene promoter and assay of its transcription activity in a variety of cell lines

Qiong CHEN, Qing YU, Yuhu SONG, Peiyuan Li, Ying CHANG, Zhijun WANG, Lifeng LIU, Wei WU, Jusheng LIN

Frontiers of Medicine 2009, Volume 3, Issue 2,   Pages 148-152 doi: 10.1007/s11684-009-0032-7

Abstract: To investigate the regulation of tumor suppressor XAF1 gene expression in digestive system cancers, westudied XAF1 gene promoter transcription activity and mRNA level in digestive system cancer cell linesand human embryonic kidney 293 cells [HEK293 cells]) as controls. 1395-bp-promoter fragment of XAF1 gene

Keywords： gene     X-linked inhibitor of apoptosis protein associated factor-1 (XAF1)     promoter     transcription regulation    

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Mutation profiling of 16 candidate genes in

Yang Zhang, Fang Wang, Xue Chen, Wenjing Liu, Jiancheng Fang, Mingyu Wang, Wen Teng, Panxiang Cao, Hongxing Liu

Frontiers of Medicine 2019, Volume 13, Issue 2,   Pages 229-237 doi: 10.1007/s11684-018-0616-1

Abstract: Mutation profiling of 16 candidate genes were performed in bone marrow samples by using Sanger sequencingwas the most common mutated gene (16.2%, 42/259), followed by (15.1%, 39/259), (14.7%, 38/259), andDistinct patterns of co-occurrence were observed for different hotspot mutations within the gene:

Keywords： leukemia     myeloid     acute     gene     mutation    

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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    

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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    

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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: development of biotechnology has provided a greater understanding of the biological functions of major candidatefunctions 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.

Keywords： evaluation     gene editing     livestock     performance     safety    

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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    

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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    

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Title Author Date Type Operation

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

Xia Jiahui

Journal Article

A systematic survey of LU domain-containing proteins reveals a novel human gene, LY6A, which encodesthe candidate ortholog of mouse Ly-6A/Sca-1 and is aberrantly expressed in pituitary tumors

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

RR1 and RR2 gene deletion affects the immunogenicity of a live attenuated pseudorabiesvirus vaccine candidate in natural pig host

Shijun YAN,He YAN,Chaolin ZHANG,Tongyan WANG,Qingyuan YANG,Zhe SUN,Yan XIAO,Feifei TAN,Xiangdong LI,Kegong TIAN

Journal Article

662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

QU Yanchun, YANG Ze, SUN Liang, JI Linong

Journal Article

et’s disease in a Chinese population

Shengping Hou, Aize Kijlstra, Peizeng Yang

Journal Article

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

Rui Zhou, Yuanshu Liu, Wenjun Huang, Xitong Dang

Journal Article

Exome sequencing greatly expedites the progressive research of Mendelian diseases

Xuejun Zhang

Journal Article

Cloning of human XAF1 gene promoter and assay of its transcription activity in a variety of cell lines

Qiong CHEN, Qing YU, Yuhu SONG, Peiyuan Li, Ying CHANG, Zhijun WANG, Lifeng LIU, Wei WU, Jusheng LIN

Journal Article

Mutation profiling of 16 candidate genes in

Yang Zhang, Fang Wang, Xue Chen, Wenjing Liu, Jiancheng Fang, Mingyu Wang, Wen Teng, Panxiang Cao, Hongxing Liu

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