• Genomics & Informatics
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• 제14권3호
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• pp.70-77
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• 2016

Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element which is the most abundant element, composing ~10% of the human genome. The element emerged in the primate genome 65 million years ago and has since propagated successfully in the human and non-human primate genomes. Alu element is a non-autonomous retrotransposon and therefore retrotransposed using L1-enzyme machinery. The 'master gene' model has been generally accepted to explain Alu element amplification in primate genomes. According to the model, different subfamilies of Alu elements are created by mutations on the master gene and most Alu elements are amplified from the hyperactive master genes. Alu element is frequently involved in genomic rearrangements in the human genome due to its abundance and sequence identity between them. The genomic rearrangements caused by Alu elements could lead to genetic disorders such as hereditary disease, blood disorder, and neurological disorder. In fact, Alu elements are associated with approximately 0.1% of human genetic disorders. The first part of this review discusses mechanisms of Alu amplification and diversity among different Alu subfamilies. The second part discusses the particular role of Alu elements in generating genomic rearrangements as well as human genetic disorders.

• 열처리공학회지
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• 제33권1호
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• pp.13-19
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• 2020

Annealing effects on the properties of Bi-doped ZnO thin films were investigated. Bi- doped ZnO thin films were deposited on quartzs substrates at 300℃ by using radio-frequency magnetron sputtering system. Post heat treatments at 600, 700, and 800℃ were performed to evaluate the effect of annealing temperatures on the structural, optical, and electrical properties of Bi-doped ZnO thin films. FE-SEM images showed the dramatic surface morphology changes by rearrangement of elements at high heat treatment temperature of 800℃. X-ray diffraction analysis indicated that the peaks of the Bi-doped ZnO thin films were same as the peaks of the (002) planes of ZnO peak-positioned at 2θ=34.0° and peak intensities and FWHMs were improved as the annealing temperatures increased. The optical transmittance was improved with increasing annealing temperatures and was over 80% in the wavelength region between 435 and 1100 nm at the annealing temperature of 700 and 800℃. With increasing annealing temperature, the electron concentrations and electron mobilities were increased. On the other hand, electric resistivity of the films were decreased with increasing annealing temperatures. These results showed that the heat treatment temperature is an important parameter to improve the structural, optical, and electrical properties of Bi-doped ZnO thin films.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.14-21
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• 2022

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

• Journal of Genetic Medicine
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• 제7권2호
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• pp.156-159
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• 2010

염색체의 역위는 균형재배열을 나타내는 구조적 이상 중 하나로 대부분 정상표현형을 나타낸다. 그러나 생식 세포의 감수 분열 단계에서 역위 고리를 만들어 염색체의 결실 또는 중복을 보이는 재조합 염색체가 형성되면 자녀에게 비정상 표현형이 나타나게 된다. 본 증례는 균형전좌를 가진 산모와 그 태아에 대한 정확한 핵형분석을 위해 세포유전학적인 방법과 분자유전학적인 방법을 함께 이용한 증례 보고이다. Trypsin과 Giemsa를 이용한 GTG 분염법의 결과에서 태아는 산모와는 다른 형태의 구조적 이상이 나타났으며, 정확한 분석을 위해 MLPA와 FISH를 시행하였다. 그 결과역위를 보인 9번 염색체 단완 말단 부위의 부분 소실과 13번 염색체에서는 장완 말단 부위의 부분 증폭이 확인되었다. 이는 생식세포의 감수분열시 상동염색체 사이의 교차에 의한 결과로써 드문 재조합 염색체로 판단된다. 따라서 이 태아의 최종 염색체 분석 결과는 46,XY,rec(9)t(9;13)(p22;q32)inv(9)(p12q13)mat로 보고 하였다. 세포유전학적인 방법을 기초로 한 FISH 또는 MLPA 등과 같은 분자유전학적 방법의 적극적인 이용은 복잡한 염색체 이상을 보이는 핵형 분석에 있어서 유용하고 효과적인 방법이라 하겠다.

• Korea-Australia Rheology Journal
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• 제14권4호
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• pp.189-201
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• 2002

The interaction between hydrophobically modified hydroxyethyl cellulose (hmHEC), containing approximately 1 wt% side-alkyl chains of $C_{16}$, and an anionic sodium dodecyl sulphate (SDS) surfactant was investigated. For a semi-dilute solution of 0.5 wt% hmHEC, the previously observed behaviour of a maximum in solution viscosity at intermediate SDS concentrations, followed by a drop at higher SDS concentrations, until above the cmc of surfactant when the solution resembles that of the unsubstituted polymer, was confirmed. Additionally, a two-phase region containing a hydrogel phase and a water-like supernatant was found at low SDS concentrations up to 0.2 wt%, a concentration which is akin to the critical association concentration, cac, of SDS in the presence of hmHEC. Above this concentration, SDS molecules bind strongly to form mixed micellar aggregates with the polymer alkyl side-chains, thus strengthening the network junctions, resulting in the observed increase in viscosity and elastic modulus of the solution. The shear behaviour of this polymer-surfactant complex during steady and step stress experiments was examined In great detail. Between SDS concentrations of 0.2 and 0.25 wt%, the shear viscosity of the hmHEC-polymer complex network undergoes shear-induced thickening, followed by a two-stage shear-induced fracture or break-up of the network. The thickening is thought to be due to structural rearrangement, causing the network of flexible polymers to expand, enabling some polymer hydrophobic groups to be converted from intra- to inter-chain associations. At higher applied stress, a partial local break-up of the network occurs, while at even higher stress, above the critical or network yield stress, a complete fracture of the network into small microgel-like units, Is believed to occur. This second network rupture is progressive with time of shear and no steady state in viscosity was observed even after 300 s. The structure which was reformed after the cessation of shear is found to be significantly different from the original state.

• 상하수도학회지
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• 제31권5호
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• pp.389-395
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• 2017

In this paper, we investigate the characteristics of membrane fouling caused by water temperature in the Membrane bioreactor(MBR) process and try to derive the membrane fouling control by chemical enhanced backwashing(CEB). The extracellular polymeric substances(EPS) concentration was analyzed according to the water temperature in the MBR, and the membrane fouling characteristics were investigated according to the conditions, with sludge & without sludge, through a lab-scale reactor. As shown in the existing literature the fouling resistance rate was increased within sludge with the water temperature was lowered. However, in the lab-scale test using the synthetic wastewater, the fouling resistance increased with the water temperature. This is because that the protein of the EPS was more easily adsorbed on the membrane surface due to the increase of entropy due to the structural rearrangement of the protein inside the protein as the water temperature increases. In order to control membrane fouling, we tried to derive the cleaning characteristics of CEB by using sodium hypochlorite(NaOCl). We selected the condition with the chemicals and the retention time, and the higher the water temperature and the chemical concentration are the higher the efficiencies. It is considered that the increasing temperature accelerated the chemical reaction such as protein peptide binding and hydrolysis, so that the attached proteinaceous structure was dissolved and the frequency of the reaction collision with the protein with the chemical agent becomes higher. These results suggest that the MBRs operation focus on the fouling control of cake layer on membrane surface in low temperatures. On the other hand, the higher the water temperature is the more the operation strategies of fouling control by soluble EPS adsorption are needed.

• 한국지반신소재학회논문집
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• 제10권1호
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• pp.19-28
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• 2011

본 논문에서는 동결-융해 반복작용이 화강풍화토의 압축강도 특성에 미치는 영향에 관한 내용을 다루었다. 이를 위해 세립분 함유량을 변화시켜 다양한 시료조건을 조성한 후 동결-융해 시험 환경을 조성한 후 동결-융해 반복작용 사이클을 강제 부가하였다. 시료에 대한 평면변형률압축시험 및 미세입자구조의 변화를 가시적으로 확인할 수 있는 전자주사현미경(SEM) 촬영 및 분석을 수행하였다. 먼저, SEM 분석 결과 화강풍화토는 동결-융해 반복작용에 노출될 경우 입자들이 뭉쳐 간극이 증가하는 추세를 보였다. 한편, 압축강도 특성의 경우 세립분 함유량에 따라 다소 차이를 보이는 것으로 나타났는데 세립분 함유량이 적은 경우에는 강도저하 현상을, 세립분 함유량이 많은 경우에는 강도 증가 현상을 보임을 확인할 수 있었다.

• Composites Research
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• 제35권1호
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• pp.23-30
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• 2022

폴리카보실란은 탄화규소 섬유 방사와 세라믹 제조를 위해 필요한 중요한 전구체이며, 이 전구체는 제조방법 및 공정에 따라 고내열성 및 내산화성 및 연속적인 탄화규소 섬유 생산 능력이 달라진다. 탄화규소 섬유는 폴리카보실란의 합성, 정제 및 분자구조제어기술, 그리고 이를 이용한 용융방사 및 안정화, 열처리 공정을 통해 제조된다. 본 논문에서는 폴리카보실란 전구체를 다양한 용매처리를 통하여 전구체 내에 존재하는 미반응물 및 저분자량의 정제효과를 파악하였으며, 또한 다양한 온도에서의 열처리에 따른 폴리카보실란 전구체의 중합 및 네트워크 재배열에 의한 변화에 대해 열적 분석을 실시하였다. 특히, 폴리카보실란 전구체의 유변물성 특성을 통해 용매처리 및 열처리에 따른 복합점도 및 구조적 배열의 변화를 분석하였다.

• 한국전산구조공학회논문집
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• 제28권1호
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• pp.1-8
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• 2015

본 논문에서는 재료 점소성-손상모델을 기반으로 한 피로균열 진전속도(FCGR) 전산 평가법을 제안한다. 7% 니켈강 재료 거동을 모사하는 점소성-손상모델을 소개하고, 이의 유한요소해석 플랫폼에의 적용을 위해 상용 유한요소해석 프로그램인 ABAQUS에서 제공하는 사용자 정의 재료 서브루틴(UMAT)에 재료모델을 탑재하였다. 개발 UMAT의 검증을 위해 7% 니켈강 재료 인장시험 시뮬레이션을 수행하였으며, 이를 통해 재료정수를 획득하였다. 또한, 피로하중에 따른 손상해석에 있어 계산 시간 단축을 위한 jump-in-cycles 과정과 임계 손상 값 조정 및 피로 예비 균열 시뮬레이션을 수행하였고 이들 과정을 개발 UMAT에 탑재하여 해석을 수행하였다. 개발 UMAT을 활용하여 7% 니켈강의 상온 FCGR 테스트 시뮬레이션을 수행하였으며, 균열길이(a)와 주기 수(number of cycles)의 관계 및 1 cycle 당 균열성장량(da/dN)과 응력확대계수 진폭(${\Delta}K$)의 관계 등의 결과를 실험결과와 비교하여 검증하였다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5391-5397
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• 2012

Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. Conclusion: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.