• 제목/요약/키워드: de novo

검색결과 407건 처리시간 0.031초

The Paleoparasitology in Brazil and Findings in Human Remains from South America: A Review

  • Novo, Shenia Patricia Correa;Ferreira, Luiz Fernando
    • Parasites, Hosts and Diseases
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    • 제54권5호
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    • pp.573-583
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    • 2016
  • The review article presents some of the history of how paleoparasitology started in Brazil, making highlight the great responsible Dr. Luiz Fernando Ferreira and Dr. Adauto Araujo, the trajectory of paleoparasitology in Brazil since 1978 and its performance in science to the present day. In sequence, it is made a presentation of parasitological findings on human remains found in archaeological sites in South America, highlighting Brazil, Argentina, Chile, and Peru, where major discoveries have occurred. Many of the parasites found in archaeological material and mentioned in this review went out of Africa with the peopling of Europe and from there they dispersed around the world, where climatic conditions allow the transmission. However, humans have acquired other parasites of animals, since humans invaded new habitats or creating new habits adopting new technologies, thus expanding its range of influence on the environment. Thus, this review article is finalized with information that explain the importance of these findings in the interaction between parasites, human host, and ambient.

Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

  • Bae, Soyoung;Yang, Aram;Ahn, Ja-Hye;Kim, Jinsup;Park, Hyun Kyung
    • Journal of Genetic Medicine
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    • 제18권1호
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    • pp.60-63
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    • 2021
  • Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

De novo Genome Assembly and Single Nucleotide Variations for Soybean Mosaic Virus Using Soybean Seed Transcriptome Data

  • Jo, Yeonhwa;Choi, Hoseong;Bae, Miah;Kim, Sang-Min;Kim, Sun-Lim;Lee, Bong Choon;Cho, Won Kyong;Kim, Kook-Hyung
    • The Plant Pathology Journal
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    • 제33권5호
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    • pp.478-487
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    • 2017
  • Soybean is the most important legume crop in the world. Several diseases in soybean lead to serious yield losses in major soybean-producing countries. Moreover, soybean can be infected by diverse viruses. Recently, we carried out a large-scale screening to identify viruses infecting soybean using available soybean transcriptome data. Of the screened transcriptomes, a soybean transcriptome for soybean seed development analysis contains several virus-associated sequences. In this study, we identified five viruses, including soybean mosaic virus (SMV), infecting soybean by de novo transcriptome assembly followed by blast search. We assembled a nearly complete consensus genome sequence of SMV China using transcriptome data. Based on phylogenetic analysis, the consensus genome sequence of SMV China was closely related to SMV isolates from South Korea. We examined single nucleotide variations (SNVs) for SMVs in the soybean seed transcriptome revealing 780 SNVs, which were evenly distributed on the SMV genome. Four SNVs, C-U, U-C, A-G, and G-A, were frequently identified. This result demonstrated the quasispecies variation of the SMV genome. Taken together, this study carried out bioinformatics analyses to identify viruses using soybean transcriptome data. In addition, we demonstrated the application of soybean transcriptome data for virus genome assembly and SNV analysis.

차세대 염기서열 분석을 이용한 굴참나무(Quercus variabilis)의 microsatellite 마커 개발 및 특성 분석 (Identification and Characterization of Polymorphic Microsatellite Loci using Next Generation Sequencing in Quercus variabilis)

  • 백승훈;이제완;홍경낙;이석우;안지영;이민우
    • 한국산림과학회지
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    • 제105권2호
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    • pp.186-192
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    • 2016
  • 본 연구는 차세대 염기서열 분석방법을 이용하여 굴참나무의 microsatellite 마커를 개발하고 특성을 분석하기 위해 수행되었다. GS-FLX Titanium 차세대 염기서열 분석 장비를 이용하여 305,771개의 read를 얻었고, 117 Mbp의 데이터를 생산하였다. De novo assembly를 통하여 7,326개의 contig를 확보하였다. 크기가 500 bp 이상이 되는 contig는 2,921개로 나타났다. 그 중 microsatellite 영역을 포함하는 contig는 606개(20.75%)로 나타났으며, 총 microsatellite의 수는 911개로 확인되었다. 그 중 13개의 microsatellite 유전자좌에서 굴참나무 개체 간 다형성이 관찰되었다. 이들 microsatellite 유전자좌에 대하여 주왕산 집단에서 관찰된 유효 대립유전자수($A_e$)는 평균 4.966(2.439~7.515)로 나타났다. 평균 이형접합도 관측치($H_o$)와 평균 이형접합도 기대치($H_e$)는 각각 0.873(0.731~1.000)과 0.766(0.590~0.867)으로 나타났다. 다형성이 관찰된 모든 microsatellite 유전자좌에서 null 대립유전자는 관찰되지 않았으며, 마커 간 연관불평형은 나타나지 않았다. 따라서 본 연구에서 개발된 13개의 microsatellite 마커는 굴참나무 집단의 유전변이 분석에 유용할 것으로 사료된다.

Characterization of CEBPA Mutations and Polymorphisms and their Prognostic Relevance in De Novo Acute Myeloid Leukemia Patients

  • Sarojam, Santhi;Raveendran, Sureshkumar;Vijay, Sangeetha;Sreedharan, Jayadevan;Narayanan, Geetha;Sreedharan, Hariharan
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권9호
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    • pp.3785-3792
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    • 2015
  • The CCAAT/enhancer-binding protein-alpha (CEBPA) is a transcriptional factor that plays a crucial role in the control of proliferation and differentiation of myeloid precursors. This gene was recognized as the target of genetic alterations and were associated with clinical complexity among AML. We here analyze the frequency and types of CEBPA mutations and polymorphisms in a de novo AML patients from South India and tried to find out associations of these variations with different clinical parameters and the prognostic significance in AML. Study was carried out in 248 de novo AML patients, cytogenetic analysis was performed from the bone marrow samples and was karyotyped. PCR-SSCP analysis and sequencing was performed for the detection of CEBPA gene variations. All the statistical analysis was performed using SPSS 17 (statistical package for social sciences) software. Pearson Chi-square test, Mann-Whitney U test, Kaplan-Meier survival analysis and log rank tests were performed. CEBPA mutations were detected in 18% and CEBPA polymorphisms were detected in 18.9% of AML cases studied. Most of the mutations occured at the C terminal region. Polymorphisms were detected in both N and C terminal region. with most common being, c.584_589dup ACCCGC and c.690G>T. A significant association was not observed for the mutation and polymorphism with respect to clinical and laboratory parameters. Survival advantage was observed for the mutated cases compared to non mutated cases, especially for the normal karyotype groups. Polymorphisms has no effect on the survival pattern of AML patients. CEBPA mutation and polymorphisms were observed with similar frequency and was identified in all the FAB subtypes as well as in cytogenetic risk groups in our study population, but CEBPA mutations alone confer a prognostic value for NK AML patients.

Polymorphisms in Genes of the De Novo Lipogenesis Pathway and Overall Survival of Hepatocellular Carcinoma Patients Undergoing Transarterial Chemoembolization

  • Wu, You-Sheng;Bao, Deng-Ke;Dai, Jing-Yao;Chen, Cheng;Zhang, Hong-Xin;Yang, YeFa;Xing, Jin-Liang;Huang, Xiao-Jun;Wan, Shao-Gui
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권3호
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    • pp.1051-1056
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    • 2015
  • Aberrant expression of genes in de novo lipogenesis (DNL) pathway were associated with various cancers, including hepatocellular carcinoma (HCC). Single nucleotide polymorphisms (SNPs) of DNL genes have been reported to be associated with prognosis of some malignancies. However, the effects of SNPs in DNL genes on overall survival of HCC patients receiving transarterial chemoembolization (TACE) treatment are still unknown. In present study, nine SNPs in three genes (ACLY, ACACA and FASN) in DNL pathway were genotyped using the Sequenom iPLEX genotyping system in a hospital-based cohort with 419 HCC patients treated with TACE, and their associations with HCC overall survival were evaluated by Cox proportional hazard regression analysis under three genetic models (additive, dominant and recessive). Although we did not find any significant results in total analysis (all p>0.05), our stratified data showed that SNP rs9912300 in ACLY gene was significantly associated with overall survival of HCC patients with lower AFP level and SNP rs11871275 in ACACA gene was significantly associated with overall survival of HCC patients with higher AFP level. We further identified the significant interactions between AFP level and SNP rs9912300 or rs11871275 in the joint analysis. Conclusively, our data suggest that genetic variations in genes of DNL pathway may be a potential biomarker for predicting clinical outcome of HCC patients treated with TACE.

PLANT BIOCHEMISTRY OF GINSENG SAPONINS(III) Radioactive Studies (2). Sodium Acetate-U-$C^{14}$ Experiment

  • 고려인삼학회
    • 고려인삼학회:학술대회논문집
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    • 고려인삼학회 1974년도 학술대회지
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    • pp.101-113
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    • 1974
  • The radioactive compound sodium $acetate-U-C^{14}$ (C-14 acetate) was administered to two- and four-year-old July and September American ginseng (Panax quinquefolium L.) plants and cuttings. The C-14 acetate uptake was approximately $99\%.$ The autoradiochromatograms suggest that the saponins(panaquilins) isolated by preparative thin-layer chromatography contained impurities, especially those isolated from the leaf and stem extracts. The root and fruit methanol extracts yielded relatively pure saponins. The large amounts of panaquilin B and its proximity to panaquilin C on preparative thin-layer plates resulted in some admixing. The average concentration $(\%$ plant dry weight) of semipurified saponins were high in the leaves $(13.8\%),$ compared to fruits $(9.8\%),\;stems\;(7.9\%)\;and\;roots\;(6.3\%).$ The average percentage of C-14 acetate incorporation into panaquilins was $4.8\%.$ The average percentage of C-14 acetate incorporation into panaquilins B and C was higher $(1.40\%\;and\;1.13\%,$ respectively) than that into panaquilin C, (d), G-1 and G-2 $(0.75\%,\;0.65\%,\;0.13\%\;and\;0.53\%,$ respectively). Panaquilin synthesis may be depending upon the part collection period and age of the plant. The average percentage of C-14 acetate incorporation into panaquilin B is high in roots $(0.58\%)\;and\;stems\;(0.48\%);$ that into panaquilins C and (d) high in leaves $(0.40\%\;and\;0.45\%,$ respectively); and that into panaquilin E high in roots and leaves $(0.55\%\and\;0.50\%,$ respectively). Panaquilin G-2 was synthesized in all parts of plants. The panaquilins appear to be biosynthesized more actively in July than September (exception-panaquilin G-l). Panaquilins B, C and G-1 may be biosynthesized more actively in four-year-old plants and panaquilins (d) and E more actively in two-year-old plants. The results from expectance with cuttings suggest that the panaquilins are synthesized de novo in the above-ground parts of ginseng plants, and that panaquilin G-l may be synthesized de novo in the leaf. It is known from the tissue culture studies that panaquilins are produced by leaf, stem and root callus tissues and callus-root cultures of American and Korean ginseng plants. Panaquilins may actively be synthesized de novo in most any cell or organ of the ginseng plants. It was verified that C-14 acetate was incorporated into the panaxadiol portions of the panaquilins of two-year-old plants (sp. act., 0.56 $m{\mu}Ci/mg$) and four-year-old plants (sp. act., 0.54 $m{\mu}Ci/mg$).

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De Novo Assembly and Comparative Analysis of the Enterococcus faecalis Genome (KACC 91532) from a Korean Neonate

  • Ham, Jun Sang;Kwak, Woori;Chang, Oun Ki;Han, Gi Sung;Jeong, Seok Geun;Seol, Kuk Hwan;Kim, Hyoun Wook;Kang, Geun Ho;Park, Beom Young;Lee, Hyun-Jeong;Kim, Jong Geun;Kim, Kyu-Won;Sung, Samsun;Lee, Taeheon;Cho, Seoae;Kim, Heebal
    • Journal of Microbiology and Biotechnology
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    • 제23권7호
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    • pp.966-973
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    • 2013
  • Using a newly constructed de novo assembly pipeline, finished genome level assembly had been conducted for the probiotic candidate strain E. faecalis KACC 91532 isolated from a stool samples of Korean neonates. Our gene prediction identified 3,061 genes in the assembled genome of the strain. Among these, nine genes were specific only for the E. faecalis KACC 91532, compared with all of the four known reference genomes (EF62, D32, V583, OG1RF). We identified genes related to phenotypic characters and detected E. faecalis KACC 91532-specific evolutionarily accelerated genes using dN/dS analysis. From these results, we found the potential risk of KACC 91532 as a useful probiotic strain and identified some candidate genetic variations that could affect the function of enzymes.

Current Status of Noninvasive Ventilation Use in Korean Intensive Care Units: A Prospective Multicenter Observational Study

  • Nam, Hyunseung;Cho, Jae Hwa;Choi, Eun Young;Chang, Youjin;Choi, Won-Il;Hwang, Jae Joon;Moon, Jae Young;Lee, Kwangha;Kim, Sei Won;Kang, Hyung Koo;Sim, Yun Su;Park, Tai Sun;Park, Seung Yong;Park, Sunghoon;Korean NIV Study Group
    • Tuberculosis and Respiratory Diseases
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    • 제82권3호
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    • pp.242-250
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    • 2019
  • Background: Data on noninvasive ventilation (NIV) use in intensive care units (ICUs) are very limited in South Korea. Methods: A prospective observational study was performed in 20 ICUs of university-affiliated hospitals from June 2017 to February 2018. Adult patients (age>18 years) who were admitted to the ICU and received NIV treatment for acute respiratory failure were included. Results: A total of 156 patients treated with NIV were enrolled (mean age, $71.9{\pm}11.6years$). The most common indications for NIV were acute hypercapnic respiratory failure (AHRF, n=89) and post-extubation respiratory failure (n=44). The main device for NIV was an invasive mechanical ventilator with an NIV module (61.5%), and the majority of patients (87.2%) used an oronasal mask. After the exclusion of 32 do-not-resuscitate patients, NIV success rate was 68.5% (85/124); ICU and hospital mortality rates were 8.9% and 15.3%, respectively. However, the success rate was lower in patients with de novo respiratory failure (27.3%) compared to that of patients with AHRF (72.8%) or post-extubation respiratory failure (75.0%). In multivariate analysis, immunocompromised state, de novo respiratory failure, post-NIV (2 hours) respiratory rate, NIV mode (i.e., non-pressure support ventilation mode), and the change of NIV device were significantly associated with a lower success rate of NIV. Conclusion: AHRF and post-extubation respiratory failure were the most common indications for NIV in Korean ICUs. Overall NIV success was achieved in 68.5% of patients, with the lowest rate in patients with de novo respiratory failure.

Computer Simulation of Angiotensin II Binding to Its Receptor for de novo Lead Search

  • Kim, Dooil;Youngdo Won
    • 한국생물물리학회:학술대회논문집
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    • 한국생물물리학회 1996년도 정기총회 및 학술발표회
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    • pp.23-23
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    • 1996
  • A working molecular model of the angiotensin II type 1 receptor is built based on the seven transmembrane helix structure of the recently refined bacteriorhodopsin atomic coordinates. A multiple copy simultaneous search (MCSS) method is used to search the pharmacophore of angiotensin on the surface of the receptor. Multiple copies of amino acid fragments and organic functional groups are scattered around the possible binding site and the time dependent. (omitted)

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