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Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion
( Yue Zheng ),( Qingfang Xu ),( Wei Lai ) 대한피부과학회 2021 Annals of Dermatology Vol.33 No.5
EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin-1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we reported the first case of PKP1 gene and DSP gene mutation coexisted with 1p36 deletion presented as serious EBSS and 1p36 deletion syndromes and identified a new homozygous mutation in the PKP1 gene (chr1:201292246 c.1672 T>C) and in the DSP gene (chr6:7580346 c.3923C>T). (Ann Dermatol 33(5) 463∼466, 2021)
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Fan Jiayao,Xu Huiqing,Liu Bing,Jing Fangyuan,He Qingfang,Zheng Shasha,Shi Haining,Jiao Lefei,Fan Chunhong 한국유전학회 2022 Genes & Genomics Vol.44 No.7
Background: TP73-AS1 is a novel antisense long noncoding RNA and plays an important role in cell proliferation and cancer development. However, the link between TP73-AS1 and colorectal cancer (CRC) has not yet been reported. Objective: To explore the association of genetic variants in TP73-AS1 and its expression with CRC susceptibility and prognosis. Methods: A case-control study (including 507 CRC cases and 503 controls) and bioinformatics analysis were conducted. Results: rs9800 polymorphism was significantly related to higher risk in CRC [adjusted odds ratio (AOR) = 1.33, 95% confidence interval (CI) = 1.02-1.75, P = 0.034 in heterozygote codominant model]. There was no difference between TP73-AS1 polymorphisms and different tumor node metastasis (TNM) stages in the adjusted model. Moreover, TP73-AS1 expression level was positively related to different TNM stages. After adjusted for age, gender and TNM, higher TP73-AS1 expression levels were related to shorter recurrence-free survival time [hazard ratio (HR) = 1.66, 95% CI = 1.02-2.71, P = 0.043]. Conclusion: TP73-AS1 polymorphisms and expression may be associated with susceptibility and prognosis of CRC.
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Lin Shen,Shen Runnan,Huang Jingqian,Liu Yanhan,Li Hongpeng,Xu Qingfang 한국유전학회 2023 Genes & Genomics Vol.45 No.12
Background Both epidemiological and clinical studies have suggested the comorbidity between cutaneous melanoma (CM) and obesity-related physical traits. However, it remains unclear about their shared genetic architecture. Objective To determine the shared genetic architecture between CM and obesity-related physical traits through conditional false discovery rate (cFDR) analysis. Method Quantile–quantile plots were firstly built to assess the pleiotropic enrichment of shared single nucleotide polymorphisms between CM and each trait. Then, cFDR and conjunctional cFDR (ccFDR) were used to identify the shared risk loci between CM and each trait. Moreover, the functional evaluation of shared risk genes was carried out through analyses of expression quantitative trait loci (eQTL), Kyoto Encyclopedia of Genes and Genomes and gene ontology, respectively. Finally, single-cell sequence analysis was performed to locate the expression of eQTL-mapped genes in tissues. Results Successive pleiotropic enrichment was found between CM and 5 obesity-related traits or height. 24 shared risk loci were identified between CM and 13 traits except appendicular lean mass using ccFDR analysis, with 17 novel and 4 validated loci. The functions of ccFDR-identified and eQTL-mapped genes were revealed to be mainly involved in cellular senescence, proliferation, meiotic nuclear division, cell cycle, and the metabolism of lipid, cholesterol and glucose. Single-cell sequence analysis showed that keratinocytes contribute to the occurrence and aggressiveness of CM through secreting paracrine cytokines. Conclusion Our findings demonstrate the significant genetic correlation between CM and obesity-related physical traits, which may provide a novel genetical basis for the pathogenesis and treatment of CM.
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