• Animal cells and systems
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• 제3권4호
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• pp.413-415
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• 1999

Our previous report demonstrated that the rhp51$^＋$, a recA and RAD51 homolog of the fission yeast, encodes three transcripts of 1.9, 1.6 and 1.3 kb which have at least six polyadenylation sites. The 3'-end of the gene alone can direct the formation of multiple, discrete 3'ends of the transcripts. To identify the regulatory element required for the 3'-end formation of -rhp51$^＋$ deletion mapping analysis was performed. Northern blot analysis revealed that the 254-bp DNA fragment including 4 distinct poly (A) sites downstream from the Hindlll site, is crucial for normal 3'-end formation. Deletion of the 3'-terminal AU rich region caused appearance of read-through RNA, leading to enhancement of survival rate of the rhp51 deletion mutant in response to DNA damaging agent, methylmethane sulfonate (MMS). The results imply that the rhp51$^＋$ system may be useful for molecular analysis of the 3'-end formation of RNA in the fission yeast.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.57-60
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• 2015

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

• ALGAE
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• 제24권2호
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• pp.85-91
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• 2009

The filamentous cyanobacterium Anabaena sp. Strain PCC 7120 produces a developmental patten of single hete- rocysts separated by approximately 10 vegetative cells. Heterocysts differentiate from vegetative cells and are spe- cialized for nitrogen fixation. The patS gene, which encodes a small peptide that inhibits heterocyst differentiation, is expressed in proheterocysts and plays a critical role in establishing the heterocyst pattem. Another key regulator of heterocyst development is the hetR gene. hetR mutants fail to produce heterocysts and extra copies of hetR on a plas- mid cause a multiple contiguous heterocyst phenotype. To elucidate the relationship between these two counter act- ing factors in the genetic regulatory pathway during heterocyst differentiation, the expression patterns of a patS-gfp and a hetR-gfp fusion were examined in a patS deletion and a hetR deletion strain. The results, in combination with the result from a hetR and patS double deletion strain, suggest patS and hetR are mutually antagonistic and the bal- ance between these two factors in tow different cell types (heterocysts and vegetative cells) may be critical during the decision making process on their cell fates.

• 한국정보시스템학회지:정보시스템연구
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• 제10권1호
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• pp.257-278
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• 2001

An IR(information retrieval) index for dynamic document databases where insertion, deletion, and update of documents happen frequently should be frequently updated. As the conventional structure of IR index is, however, focused on the information retrieval purpose, its structure is inefficient to handle dynamic update of it. In this paper, we propose a new structure for IR Index, we call it Index Graph, which is organized by connecting multiple indexes into a graph structure. By analysis and experiment, we prove the Index Graph is superior to the conventional structure of IR index in the performance of insertion, deletion, and update of documents as well as the performance of information retrieval.

• Journal of Microbiology and Biotechnology
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• 제30권5호
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• pp.662-667
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• 2020

Epidermal growth factor receptor (EGFR) mutations are not only genetic markers for diagnosis but also biomarkers of clinical-response against tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC). Among the EGFR mutations, the in-frame deletion mutation in EGFR exon 19 kinase domain (EGFR exon 19-del) is the most frequent mutation, accounting for about 45% of EGFR mutations in NSCLCs. Development of sensitive method for detecting the EGFR mutation is highly required to make a better screening for drug-response in the treatment of NSCLC patients. Here, we developed a fluorometric tandem gene amplification assay for sensitive detection of low-abundance EGFR exon 19-del mutant genomic DNA. The method consists of pre-amplification with PCR, thermal cycling of ligation by Taq ligase, and subsequent rolling circle amplification (RCA). PCR-amplified DNA from genomic DNA samples was used as splint DNA to conjugate both ends of linear padlock DNA, generating circular padlock DNA template for RCA. Long stretches of ssDNA harboring multiple copies of G-quadruplex structure was generated in RCA and detected by thioflavin T (ThT) fluorescence, which is specifically intercalated into the G-quadruplex, emitting strong fluorescence. Sensitivity of tandem gene amplification assay for detection of the EGFR exon 19-del from gDNA was as low as 3.6 pg, and mutant gDNA present in the pooled normal plasma was readily detected as low as 1% fraction. Hence, fluorometric detection of low-abundance EGFR exon 19 deletion mutation using tandem gene amplification may be applicable to clinical diagnosis of NSCLC patients with appropriate TKI treatment.

• Communications for Statistical Applications and Methods
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• 제9권2호
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• pp.521-531
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• 2002

Various diagnostic techniques for identifying influential observations are mostly based on the deletion of a single observation. While such techniques can satisfactorily identify influential observations in many cases, they will not always be successful because of some mask effect. It is necessary, therefore, to develop techniques that examine the potentially influential effects of a subset of observations. The partial regression plots can be used to examine an influential observation for a single parameter in multiple linear regression. However, it is often desirable to detect influential observations for a subset of regression parameters when interest centers on a selected subset of independent variables. Thus, we propose a diagnostic measure which deals with detecting influential observations on a subset of regression parameters. In this paper, we propose a measure M, which can be effectively used for the detection of influential observations on a subset of regression parameters in multiple linear regression. An illustrated example is given to show how we can use the new measure M to identify influential observations on a subset of regression parameters.

• 대한임상검사과학회지
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• 제39권2호
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• pp.63-67
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• 2007

A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.

• Journal of the Korean Data and Information Science Society
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• 제16권2호
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• pp.429-444
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• 2005

The identification of unusual observations such as outliers and high leverage points has drawn a great deal of attention for many years. Most of these identifications techniques are based on case deletion that focuses more on the outliers than the high leverage points. But residuals together with leverage values may cause masking and swamping for which a good number of unusual observations remain undetected in the presence of multiple outliers and multiple high leverage points. In this paper we propose a new procedure to identify outliers and high leverage points simultaneously. We suggest an additive form of the residuals and the leverages that gives almost an equal focus on outliers and leverages. We analyzed several well-referred data set and discover few outliers and high leverage points that were undetected by the existing diagnostic techniques.

• 한국통신학회논문지
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• 제25권3B호
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• pp.399-407
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• 2000

Recently, supporting ATM networks under LINUX operating systems environment has been actively studied. An ATMARP server in a conventional LINUX environment was designed under the ATMARP single-server to operate independently within a Local IP Subnet(LIS). In this paper, an ATMARP multi-server is introduced and implemented an ATMARP-server managing multiple LIS's on the LINUX-based IPOA. The ATMARP protocol processing functions and addition/deletion functions on management tables are required to implement the ATMARP multi-server. These functions can solve the problem of increasing the number of ATMARP servers in ATMARP single-server environment. The file transmission experiment with a connection configuration between LIS's shows that multiple LIS' con be managed by an ATMARP-server. As the results, the ATMARP multi-server scheme yields a smaller number of servers than that of the conventional ATMARP single-server scheme, and the network composition can be improved substantially.