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Analysis of SMOC2 gene variants in familial and nonfamilial primary open angle glaucoma Pakistani patients
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作者 Ashok Kumar Narsani Feriha Fatima Khidri +7 位作者 Muhammad Rafiq Jalpa Bai Hina Shaikh Yar Muhammad Waryah Syed Habib Ahmed Naqvi Preety Kumari Mahesh Kumar Lohano Ali Muhammad Waryah 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第12期2185-2191,共7页
AIM:To find out the association of secreted protein acidic and rich in cysteine(SPARC)-related modular calcium binding 2(SMOC2)gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in bo... AIM:To find out the association of secreted protein acidic and rich in cysteine(SPARC)-related modular calcium binding 2(SMOC2)gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in both familial and non-familial primary open angle glaucoma(POAG)patients.METHODS:A total of 212 POAG patients,comprising 124 familial and 88 non-familial,were enrolled.For genotyping the SMOC2 variant rs2255680,amplification refractory mutation system(ARMS)-polymerase chain reaction(PCR)method and PCR-restriction fragment length polymorphism(PCR-RFLP)were utilized for analyzing rs13208776 variant.RESULTS:The mean age of familial POAG patients was 50.92±9.12y,with 78 males and 46 females.The mean age of non-familial POAG patients was 53.14±13.44y,with 52 males and 36 females.The SMOC2 gene variant rs13208776 showed the significant association with POAG between familial and non-familial groups.The homozygous G/G variant was frequent among non-familial(60.2%)whereas the heterozygous G/A variant was more frequent in familial POAG patients(46%).There were significant differences in G/A variant between familial and non-familial glaucoma patients,and the risk was decreased to 0.53-fold in non-familial glaucoma patients[odds ratio(OR):0.53;95%confidence interval(CI):0.29-0.94;P=0.033]in codominant model.The risk was further reduced to 0.49-fold(95%CI:0.28-0.86;P=0.012)in dominant model for non-familial patients.No significant association of SMOC2 gene variant rs2255680 between familial and non-familial glaucoma patients was found in our population.The haplotype analysis showed the decreased risk for TA[OR:0.48(95%CI:0.29-0.79);P=0.004]and an increased risk for TG[OR=2.28(95%CI:1.22-4.25);P=0.01]haplotypes.CONCLUSION:Current findings show significant association of SMOC2 gene variant rs13208776 with POAG between familial and non-familial Pakistani patients. 展开更多
关键词 GLAUCOMA primary open angle glaucoma SMOC2 GENE VARIANT FAMILIAL non-familial
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Non-coding landscapes of colorectal cancer 被引量:6
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作者 Marco Ragusa Cristina Barbagallo +6 位作者 Luisa Statello Angelo Giuseppe Condorelli Rosalia Battaglia Lucia Tamburello Davide Barbagallo Cinzia Di Pietro Michele Purrello 《World Journal of Gastroenterology》 SCIE CAS 2015年第41期11709-11739,共31页
For two decades Vogelstein's model has been theparadigm for describing the sequence of molecular changes within protein-coding genes that would lead to overt colorectal cancer(CRC). This model is now too simplisti... For two decades Vogelstein's model has been theparadigm for describing the sequence of molecular changes within protein-coding genes that would lead to overt colorectal cancer(CRC). This model is now too simplistic in the light of recent studies, which have shown that our genome is pervasively transcribed in RNAs other than m RNAs, denominated non-coding RNAs(nc RNAs). The discovery that mutations in genes encoding these RNAs [i.e., micro RNAs(mi RNAs), long non-coding RNAs, and circular RNAs] are causally involved in cancer phenotypes has profoundly modified our vision of tumour molecular genetics and pathobiology. By exploiting a wide range of different mechanisms, nc RNAs control fundamental cellular processes, such as proliferation, differentiation, migration, angiogenesis and apoptosis: these data have also confirmed their role as oncogenes or tumor suppressors in cancer development and progression. The existence of a sophisticated RNA-based regulatory system, which dictates the correct functioning of protein-coding networks, has relevant biological and biomedical consequences. Different mi RNAs involved in neoplastic and degenerative diseases exhibit potential predictive and prognostic properties. Furthermore, the key roles of nc RNAs make them very attractive targets for innovative therapeutic approaches. Several recent reports have shown that nc RNAs can be secreted by cells into the extracellular environment(i.e., blood and other body fluids): this suggests the existence of extracellular signalling mechanisms, which may be exploited by cells in physiology and pathology. In this review, we will summarize the most relevant issues on the involvement of cellular and extracellular nc RNAs in disease. We will then specifically describe their involvement in CRC pathobiology and their translational applications to CRC diagnosis, prognosis and therapy. 展开更多
关键词 COLORECTAL cancer Micro RNA LONG noncoding RNAS CI
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烷基胺玻璃固定化葡萄糖氧化酶测定血糖
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作者 V.Kalia L.Goyal C.S.Pundir 《生物工程学报》 CAS CSCD 北大核心 1998年第3期336-338,共3页
定量分析血糖在门诊和许多疾病如糖尿病,甲状腺机能抗进,粘液腺癌,垂体机能减退,肾上腺机能减退和妨碍葡萄糖吸收等疾病的诊断有重要意义。测定葡萄糖有很多方法,采用葡萄糖氧化酶比色法,由于操作简便,专一性强,灵敏度高,因此比较适合... 定量分析血糖在门诊和许多疾病如糖尿病,甲状腺机能抗进,粘液腺癌,垂体机能减退,肾上腺机能减退和妨碍葡萄糖吸收等疾病的诊断有重要意义。测定葡萄糖有很多方法,采用葡萄糖氧化酶比色法,由于操作简便,专一性强,灵敏度高,因此比较适合用于常规测定[1]。但是葡萄糖氧化酶的价格高. 展开更多
关键词 血糖 测定 葡萄糖氧化酶 烷基胺玻璃固定
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Wheat research and breeding in the new era of a high-quality reference genome
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作者 Rudi APPELS 《Frontiers of Agricultural Science and Engineering》 2019年第3期225-232,共8页
The publications of the International Wheat Genome Sequencing Consortium(IWGSC) released in August 2018 are reviewed and placed into the context of developments arising from the availability of the highquality wheat g... The publications of the International Wheat Genome Sequencing Consortium(IWGSC) released in August 2018 are reviewed and placed into the context of developments arising from the availability of the highquality wheat genome assembly. 展开更多
关键词 assembly technology molecular MARKERS POLYPLOIDY TRANSCRIPT networks WHEAT GENOME
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