• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.1
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• pp.65-70
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• 2017

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

• Proceedings of the Computational Structural Engineering Institute Conference
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• 1999.10a
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• pp.333-342
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• 1999

An improved optimization algorithm for multi-objective and multi-level (MO/ML) optimum design of steel frames is proposed in this paper. In order to optimize the steel frames under seismic load, two main objective functions need to be considered for minimizing the structural weight and maximizing the strain energy. For the efficiency of the proposed method, well known multi-level optimization techniques using decomposition method that separately utilizes both system-level and element-level optimizations and an artificial constraint deletion technique are incorporated in the algorithm. And also dynamic analysis is executed to evaluate the implicit function of structural strain energy at each iteration step. To save the numerical efforts, an efficient reanalysis technique through sensitivity analysis of dynamic properties is unposed in the paper. The efficiency and robustness of the improved MOML algorithm, compared with a plain MOML algorithm, is successfully demonstrated in the numerical examples.

• Proceedings of the Korea Society for Simulation Conference
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• 1993.10a
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• pp.1-1
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• 1993

시뮬레이션 분야에서 출력 분석은 중요한 분야중의 하나로 출력 분석을 정확히 하기 위해서, 지금까지 많은 연구가 진행되어 왔다. 본 연구에서는 현재까지 시뮬레이션 출력 분석 분야에서 사용되지 않았던 프로크루스테스 분석(Procrustes Analysis) 방법을 사용하여 시뮬레이션 출력 데이타의 안정상태(steady state)를 분석하는 방법을 제시한다. 본 논문에서 사용하는 프로크루스테스 분석 방법은 시뮬레이견 출력 분석을 효과적으로 수행할 수 있도록 앨고리듬을 개선하여 적용하며, M/M/1 대기모형을 대상으로 시뮬레이션을 수행한다. M/M/1 대기모형에서 대기열의 평균대기시간과 평균길이라는 두가지 매개변수에 대한 출력 데이타를 동시에 사용하여, 프로크루스테스 분석을 행한 결과와 시뮬레이션 출력 분석에서 일반적으로 쓰이는 반복-제거 방법(replication-deletion approach)을 비교한 결과, 시뮬레이션 실행 횟수를 줄여도 추정하고자 하는 참값에 보다 더 가깝고 신뢰 구간의 폭이 더 좁은 추정치를 얻는다.

• Proceedings of the KIEE Conference
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• 2000.07d
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• pp.2804-2807
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• 2000

This paper suggests a method of the forward dynamic analysis for the computer simulation on the analysis of the dynamic behavior for biped walking robot. The equations f motion of the system or the simulation are constructed by using the Method of the multibody dynamics which is powerful method for modeling of the complex biped system. For the simplicity of simulation, we consider that the sole of the contacting foot is affected by the reaction forces for tree structure system topology instead of the addition or deletion of the kinematic constraints. The ground reaction forces can be modeled using the simple spring and damper model at the three contacting points on the sole of the foot. For minimizing the errors of numerical integration, the number of equations of motion is minimized by adding the driving constraints or a controller instead of the direct driving torques.

• Animal cells and systems
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• v.2 no.2
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• pp.287-295
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• 1998

The Saccharomyces cerevisiae MGMT gene encodes a O6-methylguanine DNA methyltransferase that protects cells from mutation or death by DNA alkylating agents. Using an in vitro transcription system, we analyzed its promoter region to find regulatory elements for transcription initiation. DNase I footprinting and a transcription assay showed that a functional TATA box, 5'-TGATATAGCA-3', is located in the region spanning from -25 to -34. We also found one upstream repressing sequence (URS), -333 to -213, by promoter deletion and competition analysis. Gel mobility shift assays and Southwestern blot analysis using URS region indicate specific complex formations. These results indicate that several cis-acting and trans-acting elements might be involved in the transcriptional regulation of the S. cerevisiae MGMT gene.

• Communications for Statistical Applications and Methods
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• v.23 no.3
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• pp.231-239
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• 2016

A graphical diagnostic method based on multiple case deletions in a regression context is introduced by using the sampling distribution of the difference between two least squares estimators with and without multiple cases. Principal components analysis plays a key role in deriving this diagnostic method. Multiple case deletions of test statistic are also considered when a new observation is fitted to a given regression model. The result is useful for detecting influential observations in econometric data analysis, for example in checking whether the consumption pattern at a later time is the same as the one found before or not, as well as for investigating the influence of cases in the usual regression model. An illustrative example is given.

• Journal of Preventive Medicine and Public Health
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• v.31 no.2 s.61
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• pp.275-284
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• 1998

Activities of enzymes involved in the metabolism of various carcinogenic xenobiotics is one of the most important host factors for cancer occurrence. N-acetyltransferase (NAT) and glutathione S-transferases (GST) are enzymes which .educe the toxicity of activated carcinogenic metabolites. Slow N-acetylation and lack of GST mu (GSTMI) were reported as risk factors of bladder cancer. GST theta (GSTT1), which is another type of GST, was reported to be deleted at higher proportion among Koreans. Since cause of bladder cancer is not fully explained by single risk factor, many kinds of enzymes would be involved in the metabolism of carcinogens excreted in urine. This study was performed to investigate whether the polymorphisms of NAT2, GSTM1 and GSTT1 are risk factors of bladder cancer and to evaluate the effects of their interaction on bladder cancer development. Sixty-seven bladder cancer and 67 age- and sex-matched non-cancer patients hospitalized in Chungbuk National University Hospital from March to December 1996, are the subjects of this case-control study. Questionnaire interview was done and the genotypes of NAT2, GSTM1 and GSTT1 were identified using PCR methods with DNA extracted from venous blood. The effects of the polymorphism of NAT2 and GSTM1 and their interaction on bladder cancer were statistically tested after controlling the other risk factors. The frequencies of slow, intermediate, and rapid acetylators were 3.0%, 38.8%, and 58.2% to. the cases, and 7.6%, 40.9%, and 51.5% for the controls, respectively. The risk of bladder cancer was not associated with the increase of NAT2 activity($\chi^2_{trend}=1.18$, P-value>0.05). GSTM1 was deleted in 68.7% of the cases and 49.3% of the controls ($\chi^2=5.21$, P-value<0.05), and the odds ratio (95% CI) was 2.23 (1.12 - 4.56). GSTT1 deletion, the .ate of which were 26.9% for the bladder cancer patients and 43.3% for the controls, was a significant protective factor against bladder cancer. Smoking history turned out to be insignificant as a risk factor of bladder cancer (OR=1.85, 95% CI: 0.85 - 4.03), and occupation could not be tested because of the extremely small number of occupational history related to the increase of bladder cancer. In multiple logistic analysis controlling the effects of other risk factors, GSTM1 deletion was the only significant risk factor for bladder cancer (OR: 2.56, 95% CI: 1.22-5.36, P-value<0.05), but slow acetylation and GSTT1 deletion were not. These results suggest that GSTM1 deletion may be a significant risk factor of bladder cancer. Since there have been much debates on causal relationship between slow acetylation and GSTT1 deletion, and bladder cancer, further studies are needed.

• Journal of Veterinary Clinics
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• v.22 no.4
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• pp.386-391
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• 2005

This study was done to produce a mutated protein inactivated cytotoxicity of Shigatoxin 2e (Stx2e) of E.coli O139 isolates by deletional mutagenesis of Stx2e A subunit gene encoding active-site cleft of enzymatic domain in ST2e holotoxin. Cytotoxicity of the toxoid expressed from the mutant Stx2e gene was compared with wild type Stx2e for development of vaccine candidate. A recombinant plasmid pED18 containing Stx2e gene ot E.coli O139 isolates was used to generate mutation plasmid. Deletion mutagenesis was conducted for Stx2e A subunit gene encoding enzymatically active domain by polymerase chain reaction (PCR) using ot designed primer to induce deletional mutation. DNA sequence analysis was confirmed that the pentamer (Typ 202- Ser 206) that lies within the proposed active-site cleft in the second region was completely deleted. A DNA fragment of 1.1 kb that encode the new mutant Stx2eA gene was inserted into plasmid pRSET vector digested with EcoRV-Hind III and named pEDSET The PEDSET was transformed in E. coli for expression of mutant protein and the protein was confirmed by SDS-PACE and Western-blotting. The protein expressed by the mutant was tested to confirm the reduction of cytotoxic activities on Vero cell using microcytotoxicity assay compared with wild type Stx2e, the cytotoxicity of deletional mutant protein was at least reduced by 3,000-fold on Vero cell.

• Journal of the korean academy of Pediatric Dentistry
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• v.46 no.4
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• pp.409-415
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• 2019

Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption. The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 : c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs^*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.

• Journal of Life Science
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• v.32 no.3
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• pp.241-248
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• 2022

NF-κB acts as a critical transcription factor in inflammation and innate immunity, and it is also closely involved in cell survival and tumorigenesis via induction of anti-apoptotic genes. In these processes, NF-κB cooperates with multiple other signaling molecules and pathways, and although many studies have demonstrated that Hsp90 regulates NF-κB activity, the exact mechanism is unclear. In this study, we investigated the relationship between Hsp90 and IKKγ in the regulation of NF-κB using expression plasmids of IKK complex components. Wild-type and deletion mutants of IKKγ were expressed together with Hsp90, and the combined regulatory effect of Hsp90 and IKKγ on NF-κB activation was assayed. The results show that Hsp90 activates NF-κB by promoting the phosphorylation and degradation of IκBα and that activation of NF-κB by NIK and LPS was increased by Hsp90. IKKγ elevated the effect of Hsp90 on NF-κB activation by increasing phosphorylation and degradation of IκBα. The positive regulation on NF-κB by Hsp90 and IKKγ was also proved in analysis with IKKβ-EE, the constitutively active form of IKKβ. In experiments with the deletion mutants of IKKγ, the N-terminal IKKβ binding domain, C-terminal leucine zipper, and zinc finger domains of IKKγ were found not necessary for the positive regulation of NF-κB activity. Additionally, the expression of pro-inflammatory cytokines was synergistically elevated by Hsp90 and IKKγ. These results indicate that inhibiting the interaction between Hsp90 and IKKγ is a possible strategic method for controlling NF-κB and related diseases.