• 제목/요약/키워드: Genetic relation

검색결과 276건 처리시간 0.024초

Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features

  • Chin, Hyung Jin;Kim, Chan Hyeong;Ha, Kotdaji;Shin, Jin Hong;Kim, Dae-Seong;So, Insuk
    • The Korean Journal of Physiology and Pharmacology
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    • 제21권4호
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    • pp.439-447
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    • 2017
  • Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in skeletal muscle. In this study, we report 4 unrelated Korean patients diagnosed with myotonia congenita and their clinical features. Sequence analysis of all coding regions of the patients was performed and mutation, R47W and A298T, was commonly identified. The patients commonly displayed transient muscle weakness and only one patient was diagnosed with autosomal dominant type of myotonia congenita. To investigate the pathological role of the mutation, electrophysiological analysis was also performed in HEK 293 cells transiently expressing homo-or heterodimeric mutant channels. The mutant channels displayed reduced chloride current density and altered channel gating. However, the effect of A298T on channel gating was reduced with the presence of R47W in the same allele. This analysis suggests that impaired CLC-1 channel function can cause myotonia congenita and that R47W has a protective effect on A298T in relation to channel gating. Our results provide clinical features of Korean myotonia congenita patients who have the heterozygous mutation and reveal underlying pathophyological consequences of the mutants by taking electrophysiological approach.

Molecular Analysis of Archaea, Bacteria and Eucarya Communities in the Rumen - Review-

  • White, B.A.;Cann, I.K.O.;Kocherginskaya, S.A.;Aminov, R.I.;Thill, L.A.;Mackie, R.I.;Onodera, R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제12권1호
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    • pp.129-138
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    • 1999
  • If rumen bacteria can be manipulated to utilize nutrients (i.e., ammonia and plant cell wall carbohydrates) more completely and efficiently, the need for protein supplementation can be reduced or eliminated and the digestion of fiber in forage or agricultural residue-based diets could be enhanced. However, these approaches require a complete and accurate description of the rumen community, as well as methods for the rapid and accurate detection of microbial density, diversity, phylogeny, and gene expression. Molecular ecology techniques based on small subunit (SSU) rRNA sequences, nucleic acid probes and the polymerase chain reaction (PCR) can potentially provide a complete description of the microbial ecology of the rumen of ruminant animals. The development of these molecular tools will result in greater insights into community structure and activity of gut microbial ecosystems in relation to functional interactions between different bacteria, spatial and temporal relationships between different microorganisms and between microorganisms and reed panicles. Molecular approaches based on SSU rRNA serve to evaluate the presence of specific sequences in the community and provide a link between knowledge obtained from pure cultures and the microbial populations they represent in the rumen. The successful development and application of these methods promises to provide opportunities to link distribution and identity of gastrointestinal microbes in their natural environment with their genetic potential and in situ activities. The use of approaches for assessing pupulation dynamics as well as for assessing community functionality will result in an increased understanding and a complete description of the gastrointestinal communities of production animals fed under different dietary regimes, and lead to new strategies for improving animal growth.

The first review study on association of DNA methylation with gastric cancer in Iranian population

  • Shahbazi, Mahsa;Yari, Kheirollah;Rezania, Niloufar
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권5호
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    • pp.2499-2506
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    • 2016
  • Background: Gastric cancer (GC) is the second leading cause of cancer-related death worldwide. Several environmental, genetic and epigenetic factors have been suggested to have a role in GC development. Epigenetic mechanisms like histone changes and promoter hyper-methylation are now being increasingly studied. Associations between methylation of many gene promoters with the risk of gastric cancer have been investigated worldwide. Such aberrant methylation may result in silencing of specific genes related to cell cycling, cell adhesion, apoptosis and DNA repair. Thus this molecular mechanism might have a key role in proliferation and migration of cancerous cells. Materials and Methods: In this review article we included studies conducted on DNA methylation and gastric cancer in Iranian populations. Using Science direct, Pubmed/PMC, Springer, Wiley online library and SciELO databases, all published data until 31 January 2016 were gathered. We also searched Science direct data base for similar investigations around the world to make a comparison between Iran and other countries. Results: By searching these databases, we found that the association between methylation of seven gene promoters and gastric cancer had been studied in Iran until 31 January 2016. These genes were p16, hLMH1, E-cadherin, CTLA4, $THR{\beta}$, mir9 and APC. Searching in science direct database also showed that 92 articles had been published around the world till January 2016. Our investigation revealed that despite the importance of GC and its high prevalence in Iran, the methylation status of only a few gene promoters has been studied so far. More studies with higher sample numbers are needed to reveal the relation of methylation status of gene promoters to gastric cancer in Iran. Conclusions: Further studies will be helpful in identifying associations of DNA methylation in candidate genes with gastric cancer risk in Iranian populations.

진화이론을 이용한 최적화 Fuzzy Set-based Polynomial Neural Networks에 관한 연구 (A Study on Genetically Optimized Fuzzy Set-based Polynomial Neural Networks)

  • 노석범;오성권
    • 대한전기학회:학술대회논문집
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    • 대한전기학회 2004년도 학술대회 논문집 정보 및 제어부문
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    • pp.346-348
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    • 2004
  • In this rarer, we introduce a new Fuzzy Polynomial Neural Networks (FPNNs)-like structure whose neuron is based on the Fuzzy Set-based Fuzzy Inference System (FS-FIS) and is different from that of FPNNs based on the Fuzzy relation-based Fuzzy Inference System (FR-FIS) and discuss the ability of the new FPNNs-like structurenamed Fuzzy Set-based Polynomial Neural Networks (FSPNN). The premise parts of their fuzzy rules are not identical, while the consequent parts of the both Networks (such as FPNN and FSPNN) are identical. This difference results from the angle of a viewpoint of partition of input space of system. In other word, from a point of view of FS-FIS, the input variables are mutually independent under input space of system, while from a viewpoint of FR-FIS they are related each other. In considering the structures of FPNN-like networks such as FPNN and FSPNN, they are almost similar. Therefore they have the same shortcomings as well as the same virtues on structural side. The proposed design procedure for networks' architecture involves the selection of appropriate nodes with specific local characteristics such as the number of input variables, the order of the polynomial that is constant, linear, quadratic, or modified quadratic functions being viewed as the consequent part of fuzzy rules, and a collection of the specific subset of input variables. On the parameter optimization phase, we adopt Information Granulation (IG) based on HCM clustering algorithm and a standard least square method-based learning. Through the consecutive process of such structural and parametric optimization, an optimized and flexible fuzzy neural network is generated in a dynamic fashion. To evaluate the performance of the genetically optimized FSPNN (gFSPNN), the model is experimented with using gas furnace process dataset.

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Differential Recovery of Photosystem II Complex from Low-Temperature Photoinhibition in Plants with Different Chilling Sensitivity

  • Moon, Byoung-Yong;Norio Murata
    • Journal of Photoscience
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    • 제7권2호
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    • pp.39-44
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    • 2000
  • To examine the chilling tolerance lipids, we compared the chilling susceptibility of photosystem II of wild type tobacco plants with that of transgenic tobacco plants, in which the sensitivity to chilling had been enhanced by genetic modification of fatty acid unsaturation of chloroplast membrane lipids. The transgenic tobacco plants were found to contain reduced levels of unsaturated membrane fatty acids by being tansformed with cDNA for glycerol-3-phosphate acyltransferase from squash. For the purpose of studying on the functional integrity of photosystem II during low-temperature photoinhibition, the photochemical efficiency was measured as the ration of the maximun fluorescence of chlorophyll (Fv/Fm) of photosystem II. In parallel with an investigation on the transgenic plants, susceptibility of chilling-resistant species, such as spinah and pea, and of chilling-sensitive ones, such as squash and sweet potato, to low-temperature photoinhibition was also compared in terms of room temperature-induced chlorophyll fluorescence from photosystem II. When leaf disks from the two genotypes of tobacco plants were exposed to light at 5$^{\circ}C$, the transgenic plants showed more rapid decline in photochemical activity of photosysytme II than wild-type plants. When they were pretreated with lincomycin, an inhibitor of chloroplast-encoded protein synthesis, the extent of photoinhibition was even more accelerated. More impottantly, they showed a comparable extent of photoinhibition in the presence of lincomycin, making a clear contrast to the discrepancy observed in the discrepancy observed in the absence of lincomycin. Restoration of Fv/Fm during recovery from low-temperature photoinhibition occurred more slowly in the transgenic tobacco plants than the wild-type. These findings are discussed in relation to fatty acid unsaturation of membrane phosphatidylglycerol. It appears that the ability of plants to rapidly regenerate the active photosystem II complex from might explain, in part, why chilling-resistant plants can toleratlow-temperature photoinhibition.

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한국 성인에서의 생활행태와 혈중 카드뮴 농도 (Life Styles and the Blood Cadmium Concentration in Korean Adults)

  • 이상혁;최병선;박정덕
    • Environmental Analysis Health and Toxicology
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    • 제24권3호
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    • pp.193-202
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    • 2009
  • In this study, we analyzed the blood cadmium concentration in general population of Korea, and followed the analyses the relations with epidemiologic factors, life-style and body iron store. The geometric mean concentration of blood cadmium was 1.20 ${\mu}g/L$ in study subject, the level of blood cadmium was higher in female (1.27 ${\mu}g/L$) than in male (1.11 ${\mu}g/L$). The mean concentration of blood cadmium was the highest in coastal area (1.80 ${\mu}g/L$) and followed in urban (1.01 ${\mu}g/L$) and rural area (0.90 ${\mu}g/L$). The cadmium concentration in whole blood was increased with age-dependent pattern, such as 0.64 ${\mu}g/L$ in the below 30 years, 0.95 ${\mu}g/L$ in the 30~44 years, 1.28 ${\mu}g/L$ in the 45~59 years and 1.31 ${\mu}g/L$ in the over 60 years. The level of blood cadmium was higher in smokers than in non-smokers, but was not significant by alcoholic habit. The blood cadmium level was different from occupations, which was the highest in the fishers as 1.87 ${\mu}g/L$. The inversed relation was observed between blood cadmium and serum Fe, while was correlated positively with the ferritin level. In summary, the environmental exposure to cadmium in Korean is not so much compared to other countries, and the blood cadmium is influenced by genetic factors (age and sex), life-styles (dietary habit, occupation and smoking habit) and nutrition such as serum iron.

Herpes Simplex Virus에 감염된 Mouse의 NK세포역할 (A Role of Natural Killer Cell in Mouse Infected Herpes Simplex Virus)

  • 이연태;이종훈
    • 대한미생물학회지
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    • 제17권1호
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    • pp.7-14
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    • 1982
  • A model of induction of neoplasia by viruses has develpoed from experimental studies in animals and in cultured cells and oncogenic transformation of cells is the result of integration of viral genetic information into the cellular DNA. The evidence for these associations was derived primarily from seroepidemiologic investigation. However, data indicating that the relation between HSV-2 and cervical cancer fits the model derived from experimental animal studies are not yet sufficient to draw conclusion with regard to the etiologic role the virus in the development of the neoplasms. In other hand, the K562 tumor cell is highly susceptible target for natural killer cell lysis by the lymphocytes of human and murine periperal blood. The characteristics of this effector cell type has been investigated. A study on natural killer cell mediated cytotoxicity(NKMC) against $^{51}Cr$-K562 as target cell was studed in HSV-2 infected ICR mouse. We have studied for susceptibility of HSV-2 against mouse embryo fibroblast(MEF) cells and NKMC from HSV-2 infected mouse. The results obtained that the mouse embryo fibroblast cells culture, the number and size of the cells were markedly increased and formed a monolayers relatively rapid, and become complete monolayer sheet around 72 hrs. Duration of cytopathic effect on MEF cells was rapid by serial passing of HSV-2. The morphology of the HSV-2 infected cells appear to be mainly round, ovium, spindle form and some of them was forming large giant cells. The NKMC was decrease in mouse with HSV-2 and comparison between effector/target cells ratio as 25:1 and 50:1 respectively, the NKMC was found to be more significantly decreased than normal control we have concluded that the natural killer cell activity of the viral infected mouse was shown as a suppressed during the HSV-2 infection, day 7th and 14th.

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성인들의 혈액형과 성격 및 항 스트레스와의 관련성 연구 (A Study on the effects of one's blood type on emotional character and antistress of adults)

  • 김충식;이선규
    • 한국산학기술학회논문지
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    • 제12권6호
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    • pp.2554-2560
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    • 2011
  • 이 연구는 성인들의 혈액형이 성격이나 스트레스 저항능력과 상관관계가 있는지를 개인이 지닌 뇌신경 생리학적 지표인 뇌파 측정을 이용하여 비교 하여보았다. 대상자는 2006년 9월에서 2009년12월까지 한국정신과학 연구소에 뇌파측정 의뢰한 성인(20세-59세)들을 기준으로 선정한 자료이다. 남 1415 명, 여 3221명으로 총4636 명이다. 혈액형의 분포도는 A>B>O>AB형 순이었다. 분석 결과 성인들의 혈액형과 정서적 성향과는 무관 하였다. 하지만 스트레스 저항능력과는 유의미한 차이가 있었다. 즉, O형이 다른 혈액형에 비하여 주의 지수나 항스트레스 지수에서 높게 차이가 났다. 스트레스를 이겨낼 수 있는 능력이 높다고 할 수 있겠다. 이 연구 결과 몇 개의 범주에서 혈액형과 의의 있는 상관관계를 보여 주었으며 미치는 영향이나 유전적인 역할이 어떻게 영향을 주는지의 작용기전을 규명하는 연구가 필요하다고 사료 된다.

노인들의 혈액형과 인지 기능 및 행동 성향과의 관계 연구 (A Study on the Effects of One's Blood Type Cognitive Function and Emotional Character for the Elder)

  • 백기자;안상균;이혜경
    • 한국산학기술학회논문지
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    • 제11권6호
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    • pp.2072-2077
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    • 2010
  • 이 연구는 노인들의 혈액형이 인지 기능 및 행동성향과 상관관계가 있는지를 개인이 지닌 뇌신경 생리학 적 지표인 뇌파 측정을 이용하여 비교 하여보았다. 대상자는 2008년 9월에서 2009년 6월까지 한국정신과학연구소에 뇌파측정 의뢰한 노인(60세 이상)을 기준으로 선정한 자료이다. 노인 여자 311명 노인 남자 451명 총762 명이다. 노인의 혈액형 분포도는 A>B>O>AB형 순이었다. 분석 결과 노인들의 혈액형과 행동성향과의 분포도에서 여자노인 에서는 무관하였고 남자노인에서는 유의미한 차이가 있었다. B형과 O형의 남자노인에서 부정성향이 높다고 본다. 인지기능과의 관계에서는 정서지수(p=.001)와 활성지수(우)(p=.040)에서 유의미한 차이를 보였다. 정서지수에서는 A형이 가장 높았고 활성지수에서는 AB형이 가장 높았다. 이 연구 결과 몇 개의 범주에서 혈액형과 의미있는 관계를 보여 주었으나 미치는 영향이나 유전적인 역할이 어떻게 영향을 주는지의 작용기전을 규명하는 연구가 필요하다고 사료된다.

정보 Granules에 의한 퍼지 관계 기반 퍼지 추론 시스템의 최적 설계 (Optimal Design of Fuzzy Relation-based Fuzzy Inference Systems with Information Granulation)

  • 박건준;안태천;오성권;김현기
    • 한국지능시스템학회논문지
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    • 제15권1호
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    • pp.81-86
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    • 2005
  • 본 연구에서는 복잡하고 비선형 시스템을 모델 동정하기 위해 정보 granules에 기반한 퍼지 추론 시스템의 새로운 범주를 소개한다. 비공식적으로 말하면, 정보 granules는 근접성, 유사성 또는 기능성 등에 인하여 서로 결합되는 대상(특히, 수치 데이터)의 연결된 모임으로 간주된다. HCM 클러스터링에 의한 정보 granulation은 퍼지 규칙의 전반부 및 후반부에서 사용되는 멤버쉽 함수의 포기 정점과 다항식함수의 초기 값과 같은 퍼지 모델의 초기 파라미터를 결정하는데 도움을 준다. 그리고 포기 파라미터는 유전자 알고리즘과 최소자승법에 의해 효과적으로 동조된다. 또한, 퍼지 모델의 성능사이의 상호균형을 얻기 위하여 하중값을 가진 합성 목적함수를 사용하여 근사화와 예측성능의 향상을 꾀한다. 제안된 모델은 수치적인 예제를 가지고 평가하고, 문헌에서 나타난 기존의 퍼지 모델의 성능과 대조된다.