• Title/Summary/Keyword: Repeat Response

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Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

  • Lee, Jae-Ho;Kim, Dae-Kwang
    • Journal of Genetic Medicine
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    • v.11 no.1
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    • pp.11-15
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    • 2014
  • Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is called Haddad syndrome. CCHS is associated with dysfunction in respiratory features of the autonomic nervous system and with other disorders, including facial deformities, cardiovascular symptoms, and tumors. Patients with CCHS frequently have a mutation in the homeobox protein 2b (PHOX2B) gene. Most mutations involve heterozygous expansion of alanine repeats (GCN). Interestingly, a higher polyalanine repeat number is associated with a more severe clinical phenotype. To clarify the role of PHOX2B in disease pathogenesis, we introduce and review the clinical and molecular features of CCHS and Haddad syndrome.

Optimization of Transonic Airfoil Using GA Based on Neural Network and Multiple Regression Model (유전 알고리듬과 반응표면을 이용한 천음속 익형의 최적설계)

  • Kim, Yun-Sik;Kim, Jong-Hun;Lee, Jong-Soo
    • Transactions of the Korean Society of Mechanical Engineers A
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    • v.26 no.12
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    • pp.2556-2564
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    • 2002
  • The design of airfoil had practiced by repeat tests in its first stage, though an airfoil has as been designed based on simulations according to techniques of computational fluid dynamics. Here, using of traditional optimization is unsuitable because a state of flux is hypersensitive to the shape of airfoil. Therefore the paper optimized the shape of airfoil in transonic region using a genetic algorithm (GA). Response surfaces are based on back propagation neural network (BPN) and regression model. Training data of BPN and regression model were obtained by computational fluid dynamic analysis using CFD-ACE, and each analysis has been designed by design of experiments.

Surgical Management of Cardiac Tamponade (심장압전의 외과적 치료)

  • 장재현
    • Journal of Chest Surgery
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    • v.25 no.1
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    • pp.66-72
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    • 1992
  • From March 1986 to March 1991, 29 patients were operated due to cardiac tamponade at the Department of Thoracic and Cardiovascular Surgery, Masan Koryo General Hospital. Among them, 19cases were traumatic origin and 10 were Non traumatic origin. A] Traumatic cardiac tamponade Out of 19 cases, 12 cases were resulted from penetrating injury and 7 cases from trauma. Average time interval from arrival to operation was 91 minutes[15min.~8.5hr.] in penetrating injury group. On the other hand, average time of in cases of blunt trauma was more than 3hours because of the difficulties in diagnosis. Four deaths occured in 19 cases [mortality rate: 21.1%] 3 in blunt trauma group[42.9%] and 1 in penetrating group[8.3%]. In view of our experience, the prognosis was closely correlated with injury mode, initial vital sign and mental status. There was no close correlation between prognosis and cardiac injury site. B] Non traumatic cardiac tamponade The etiologies were malignancy[4], non-spesific pericarditis[3], tuberculosis[1], pyogenic[1] and cardiomyopathy[1]. All of the cases in which performed tube pericardiostomy were the cases that showed no response to conservative treatment and repeat per-icardiocentesis. There was one posoperative death.

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Comparison and Analysis of Standardised Methods for Predicting the Hazards of Whole-body Vibration and Repeated Shocks (전신 피폭 진동 및 반복 충격에 의한 위함 예측 표준 방안들의 비교 분석)

  • ;;Michael J. Griffin
    • Journal of KSNVE
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    • v.10 no.1
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    • pp.160-167
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    • 2000
  • This paper addresses issues encountered in using the ISO and national standard codes to assess the hazards of whole-body vibration and repeat shocks. Their assessment methods are given in ISO 2631-1 (1974, 1985, 1997) and BS 6841 (1987) that are now available to us. Two standard codes can yield unfortunately different assessment results even for a single measured vibration signal. Possible reasons for such different results are pointed out and, furthermore, related questions that should be re-examined in the future are raised in this paper.

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The innate immune response transcription factor Bombyx mori Relish1 induces high-level antimicrobial peptides in silkworm

  • Kim, Seong-Wan;Kim, Seong-Ryul;Goo, Tae-Won;Choi, Kwang-Ho
    • International Journal of Industrial Entomology and Biomaterials
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    • v.37 no.2
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    • pp.49-54
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    • 2018
  • To artificially enhance antimicrobial peptide expression in Bombyx mori, we constructed genetically engineered silkworms overexpressing Rel family transcription factor. The truncated BmRelish1 (BmRelish1t) gene contained a Rel homolog domain (RHD), nuclear localization signal (NLS), acidic and hydrophobic amino acid (AHAA)-rich region, and death domain (DD), but no ankyrin-repeat (ANK) domain. The BmRelish1t gene was controlled by B. mori cytoplasmic actin 3 promoter in the PiggyBac transposon vector. Chromosome analysis of G1 generations of a transgenic silkworm with EGFP expression confirmed stable insertion of BmRelish1t. BmRelish1t gene overexpression in transgenic silkworms resulted in higher mRNA expression levels of B. mori antimicrobial peptides such as lebocin(~20.5-fold), moricin(~8.7-fold), and nuecin(~17.4-fold) than those in normal silkworms.

Transcriptomic analysis of 'Campbell Early' and 'Muscat Bailey A' grapevine shoots exposed to freezing cold stress (영하의 저온에 노출된 'Campbell Early'와 'Muscat Bailey A' 포도나무 신초의 전사체 비교)

  • Kim, Seon Ae;Yun, Hae Keun
    • Journal of Plant Biotechnology
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    • v.43 no.2
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    • pp.204-212
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    • 2016
  • To understand the responses of grapevines in response to cold stress causing the limited growth and development, differentially expressed genes (DEGs) were screened through transcriptome analysis of shoots from 2 grapevine cultivars ('Campbell Early' and 'Muscat Baily A') kept at -$2^{\circ}C$ for 4 days. In gene ontology analysis of DEGs from 'Campbell Early', there were 17,424 clones related with biological process, 28,954 with cellular component, and 6,972 with molecular function genes in response to freezing temperature. The major induced genes included dehydrin xero 1, K-box region and MADS-box transcription factor family protein, and MYB domain protein 36, and inhibited genes included light-harvesting chlorophyll B-binding protein 3, FASCICLIN-like arabinoogalactan 9, and pectin methylesterase 61 in 'Campbell Early' grapevines. In gene ontology analysis of DEGs from 'Muscat Baily A', there were 1,157 clones related with biological process, 1,350 with cellular component, and 431 with molecular function gene. The major induced genes of 'Muscat Baily A' included NB-ARC domain-containing disease resistance protein, fatty acid hydrozylase superfamily, and isopentenyltransferase 3, and inhibited genes included binding, IAP-like protein 1, and pentatricopeptide repeat superfamily protein. All major DEGs were shown to be expressed differentially by freezing temperature in real time-PCR analysis. Protein domain analysis using InterPro Scan revealed that ubiquitin-protein ligase was redundant in both tested grapevines. Transcriptome profile of shoots exposed to cold can provide new insights into the molecular basis of tolerance to low-temperature in grapevines, and can be used as resources for development new grapevines tolerant to coldness.

Combining In Silico Mapping and Arraying: an Approach to Identifying Common Candidate Genes for Submergence Tolerance and Resistance to Bacterial Leaf Blight in Rice

  • Kottapalli, Kameswara Rao;Satoh, Kouji;Rakwal, Randeep;Shibato, Junko;Doi, Koji;Nagata, Toshifumi;Kikuchi, Shoshi
    • Molecules and Cells
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    • v.24 no.3
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    • pp.394-408
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    • 2007
  • Several genes/QTLs governing resistance/tolerance to abiotic and biotic stresses have been reported and mapped in rice. A QTL for submergence tolerance was found to be co-located with a major QTL for broad-spectrum bacterial leaf blight (bs-blb) resistance on the long arm of chromosome 5 in indica cultivars FR13A and IET8585. Using the Nipponbare (japonica) and 93-11 (indica) genome sequences, we identified, in silico, candidate genes in the chromosomal region [Kottapalli et al. (2006)]. Transcriptional profiling of FR13A and IET8585 using a rice 22K oligo array validated the above findings. Based on in silico analysis and arraying we observed that both cultivars respond to the above stresses through a common signaling system involving protein kinases, adenosine mono phosphate kinase, leucine rich repeat, PDZ/DHR/GLGF, and response regulator receiver protein. The combined approaches suggest that transcription factor EREBP on long arm of chromosome 5 regulates both submergence tolerance and blb resistance. Pyruvate decarboxylase and alcohol dehydrogenase, co-located in the same region, are candidate downstream genes for submergence tolerance at the seedling stage, and t-snare for bs-blb resistance. We also detected up-regulation of novel defense/stress-related genes including those encoding fumaryl aceto acetate (FAA) hydrolase, scramblase, and galactose oxidase, in response to the imposed stresses.

Differential Gene Expression of Soybean[Glycine max(L.) Merr.] in Response to Xanthomonas axonopodis pv. glycines by Using Oligonulceotide Macroarray

  • Van, Kyujung;Lestari, Puji;Park, Yong-Jin;Gwag, Jae-Gyun;Kim, Moon-Young;Kim, Dong-Hyun;Heu, Sung-Gi;Lee, Suk-Ha
    • Journal of Crop Science and Biotechnology
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    • v.10 no.3
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    • pp.147-158
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    • 2007
  • Xanthomonas axonopodis pv. glycines(Xag) is a pathogen that causes bacterial leaf pustule(BLP) disease in soybeans grown in Korea and the southern United States. Typical and early symptoms of the disease are small, yellow to brown lesions with raised pustules that develop into large necrotic lesions leading to a substantial loss in yield due to premature defoliation. After Xag infects PI 96188, only pustules without chlorotic haloes were observed, indicating the different response to Xag. To identify differentially expressed genes prior to and 24 hr after Xag inoculation to PI 96188 and BLP-resistant SS2-2, an oligonucleotide macroarray was constructed with 100 genes related to disease resistance and metabolism from soybean and Arabidopsis. After cDNAs from each genotype were applied on the oligonucleotide macroarrays with three replicates and dye swapping, 36 and 81 genes were expressed as significantly different between 0 hr and 24 hr in PI 96188 and SS2-2, respectively. Six UniGenes, such as the leucine-rich repeat protein precursor or 14-3-3-like protein, were selected because they down-regulated in PI 96188 and up-regulated in SS2-2 after Xag infection, simultaneously. Using tubulin and cDNA of Jangyeobkong(BLP-susceptible) as controls, the oligonucleotide macroarray data concurred with quantitative real-time RT-PCR(QRT RT-PCR) results in most cases, supporting the accuracy of the oligonucleotide macroarray experiments. Also, QRT RT-PCR data suggested six candidate genes that might be involved in a necrotic response to Xag in PI 96188.

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Rpi-blb2-Mediated Hypersensitive Cell Death Caused by Phytophthora infestans AVRblb2 Requires SGT1, but not EDS1, NDR1, Salicylic Acid-, Jasmonic Acid-, or Ethylene-Mediated Signaling

  • Oh, Sang-Keun;Kwon, Suk-Yoon;Choi, Doil
    • The Plant Pathology Journal
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    • v.30 no.3
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    • pp.254-260
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    • 2014
  • Potato Rpi-blb2 encodes a protein with a coiled-coil-nucleotide binding site and leucine-rich repeat (CC-NBSLRR) motif that recognizes the Phytophthora infestans AVRblb2 effector and triggers hypersensitive cell death (HCD). To better understand the components required for Rpi-blb2-mediated HCD in plants, we used virus-induced gene silencing to repress candidate genes in Rpi-blb2-transgenic Nicotiana benthamiana plants and assayed the plants for AVRblb2 effector. Rpi-blb2 triggers HCD through NbSGT1-mediated pathways, but not NbEDS1- or NbNDR1-mediated pathways. In addition, the role of salicylic acid (SA), jasmonic acid (JA), and ethylene (ET) in Rpi-blb2-mediated HCD were analyzed by monitoring of the responses of NbICS1-, NbCOI1-, or NbEIN2-silenced or Rpi-blb2::NahG-transgenic plants. Rpi-blb2-mediated HCD in response to AVRblb2 was not associated with SA accumulation. Thus, SA affects Rpi-blb2-mediated resistance against P. infestans, but not Rpi-blb2-mediated HCD in response to AVRblb2. Additionally, JA and ET signaling were not required for Rpi-blb2-mediated HCD in N. benthamiana. Taken together, these findings suggest that NbSGT1 is a unique positive regulator of Rpi-blb2-mediated HCD in response to AVRblb2, but EDS1, NDR1, SA, JA, and ET are not required.

Novel Biomarkers for Prediction of Response to Preoperative Systemic Therapies in Gastric Cancer

  • Cavaliere, Alessandro;Merz, Valeria;Casalino, Simona;Zecchetto, Camilla;Simionato, Francesca;Salt, Hayley Louise;Contarelli, Serena;Santoro, Raffaela;Melisi, Davide
    • Journal of Gastric Cancer
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    • v.19 no.4
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    • pp.375-392
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    • 2019
  • Preoperative chemo- and radiotherapeutic strategies followed by surgery are currently a standard approach for treating locally advanced gastric and esophagogastric junction cancer in Western countries. However, in a large number of cases, the tumor is extremely resistant to these treatments and the patients are exposed to unnecessary toxicity and delayed surgical therapy. The current clinical trials evaluating the combination of preoperative systemic therapies with modern targeted and immunotherapeutic agents represent a unique opportunity for identifying predictive biomarkers of response to select patients that would benefit the most from these treatments. However, it is of utmost importance that these potential biomarkers are corroborated by extensive preclinical and translational research. The aim of this review article is to present the most promising biomarkers of response to classic chemotherapeutic, anti-HER2, antiangiogenic, and immunotherapeutic agents that can be potentially useful for personalized preoperative systemic therapies in gastric cancer patients.