• Journal of Genetic Medicine
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• v.20 no.1
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• pp.1-5
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• 2023

Until now, rare disease studies have mainly been carried out by detecting simple variants such as single nucleotide substitutions and short insertions and deletions in protein-coding regions of disease-associated gene panels using diagnostic next-generation sequencing in association with patient phenotypes. However, several recent studies reported that the detection rate hardly exceeds 50% even when whole-exome sequencing is applied. Therefore, the necessity of introducing whole-genome sequencing is emerging to discover more diverse genomic variants and examine their association with rare diseases. When no diagnosis is provided by whole-genome sequencing, additional omics techniques such as RNA-seq also can be considered to further interrogate causal variants. This paper will introduce a description of these multi-omics techniques and their applications in rare disease studies.

• Resources Recycling
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• v.28 no.6
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• pp.9-17
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• 2019

The use of rare metals in increasing along with the growth of the Fourth industrials revolution and new energy industries, and the recycling of rare metals becomes more important as the used of rare metals increase. In this paper, the domestic and international quality standards of tin metal, one of the rare metals, and the performance test of recycled tin were investigated. As a results of the performance test, it was analyzed that there is no difference in performance between the natural and recycled tin.

• Journal of Powder Materials
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• v.22 no.2
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• pp.134-137
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• 2015

The monolayer engineering diamond particles are aligned on the oxygen free Cu plates with electroless Ni plating layer. The mean diamond particle sizes of 15, 23 and $50{\mu}m$ are used as thermal conductivity pathway for fabricating metal/carbon multi-layer composite material systems. Interconnected void structure of irregular shaped diamond particles allow dense electroless Ni plating layer on Cu plate and fixing them with 37-43% Ni thickness of their mean diameter. The thermal conductivity decrease with increasing measurement temperature up to $150^{\circ}C$ in all diamond size conditions. When the diamond particle size is increased from $15{\mu}m$ to $50{\mu}m$ (Max. 304 W/mK at room temperature) tended to increase thermal conductivity, because the volume fraction of diamond is increased inside plating layer.

• Journal of the Korean Society for Heat Treatment
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• v.8 no.4
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• pp.333-339
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• 1995

The reduction and diffusion process(R-D process) is an economical way to produce the functional materials which contain rare-earth elements and has been applied to the production of rare-earth magnet meterials($SmCo_5$, $Nd_{15}Fe_{77}B_8$), magneto-optical(MO) target materials and hydrogen storage alloy, etc. However, because of difficult to control of the final composition, the R-D process has not been applied to production of the 2-17 type rare earth permanent magnet materials which contain several elements. Therefore, this work was as a basic study for the production of the 2-17 type rare earth permanent materials with composition $Sm(Co_{0.72}Fe_{0.21}Cu_{0.05}Zr_{0.03})_{7.9}$ by the R-D process, the following were mainy examined ; the amount of metallic calcium as a reductant, homogenization condition of the alloy after the R-D reaction, masuring of magnetic properties of the sample after step aging. The sample prepared by the R-D process contained a little more oxygen than that prepared by the melting method, however, showed almost the same magnetic properties.

• Journal of the Korean Ceramic Society
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• v.47 no.6
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• pp.540-545
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• 2010

In this study, we have investigated new plasma resistant materials with less usage of rare-earth oxides than $Y_2O_3$ which is currently used in the semiconductor industry. We observed the stability ranges of $(Gd{\cdot}Y)_3Al_5O_{12}$ and $(La{\cdot}Y)Al_{11}O_{18}$ ternary systems, and measured their etch rates under typical fluorine plasma. $(Gd{\cdot}Y)_3Al_5O_{12}$ system showed an extensive solid solution up to 80 mol% gadolinium, but $(La{\cdot}Y)Al_{11}O_{18}$ showed a negligible substitution between rare-earth ions, which can be explained by the differences between the ionic radii. The etch rates depended on the total amount of rare-earth oxides but not on the substitution of the rare-earth ions. When the specimen was examined using XPS after the exposure to fluorine plasma, the strong surface fluorination was observed with a shift of the binding energy to higher energy.

• Journal of the Korean Chemical Society
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• v.30 no.1
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• pp.63-68
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• 1986

Elution behavior of rare earth elements have been investigated with the EDTA solution as an eluent using cation exchange resin. Definite amount of the complexed rare earth ions at pH 8.4 is adsorbed through the cation exchanger containing cupric ion as a retaining ion and eluted with EDTA solution. The rare earth ions are eluted more rapidly in the above method than in the method in which uncomplexed rare earth ions are adsorbed on the cation exchange resin bed. In this method, the elution time and amount of eluent are saved but the resolution values also decreased a little. The elution order of complexed ion was determined in accordance with the stability constant of complexes with rare earth elements.

• Research in Community and Public Health Nursing
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• v.17 no.3
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• pp.364-375
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• 2006

Purpose: The purpose of the study was to investigate burden and the qualify of life in caregivers who are taking care of home-based rare and incurable disease patients. Methods: The subjects of this study were 300 caregivers of rare and incurable disease patients registered at five health centers in Seoul. A survey was conducted by mail and visit in person during the period from the 25th of March to the 12th of May 2005. Collected data were analyzed through t-test, ANOVA, Pearson's correlation coefficient. Result: The mean burden of caregivers was 3.42, and the mean qualify of life of caregivers was 2.71. Burden and QoL showed significant differences according to caregivers' characteristics such as sender, age, relation to the patient, academic qualification, religion, occupation, monthly household income and perceived health condition. Caregivers' burden was in an inverse correlation with their quality of life. Conclusions: According to the results of this study, rare and incurable disease caregivers' burden and their quality of life were in a significant correlation with each other. In order to improve caregivers' quality of life by reducing their burden, we need to reestablish comprehensive policies for rare and incurable disease management including nursing intervention strategies for caregivers.

• KEPCO Journal on Electric Power and Energy
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• v.1 no.1
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• pp.121-125
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• 2015

Distribution of rare earth metals (REMs) and rare valuable metals (RVMs) contents in coal ashes (fly ash, bottom ash, and pond ash) and leachate from 11 coal-fired power plants in Korea were investigated. Coal ashes and leachates were found to contain important REMs and RVMs such as Yttrium (Y) and Neodymium (Nd), which was in the range of 23~75 mg/kg. However, it still requires developing effective recovery and separation methods in order to utilize REMs and RVMs in ash and leachate. Recovery of valuable elements (Y and Nd) from various and extensive ash sources (8.21 million tons/year in 2013) can provide the existing power plants with additional profit; therefore, it can significantly improve economics of the power plants.

• Resources Recycling
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• v.26 no.2
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• pp.3-10
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• 2017

Rare earth elements with high purity are demanded for the manufacture of advanced materials. Light rare earth elements are contained in domestic monazite and Ni-MH batteries. In this paper, solvent extraction to separate the light rare earth elements from hydrochloric acid leaching solutions of these resources was discussed. A mixture of cationic and tertiary amine shows synergistic effect on the extraction of LREEs and the extent of pH decrease during extraction is reduced. The effect of solution pH on the extraction and synergism was reviewed. Acquisition of the operation data with mixer-settler on the separation of LREEs by this mixture is necessary to develop a process.

• Genomics & Informatics
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• v.17 no.1
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• pp.9.1-9.5
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• 2019

In previous studies, we demonstrated that some sites in the first intron likely regulate gene expression. In the present work, we sought to further confirm the functional relevance of first intron sites by estimating the quantity of rare alleles in the first intron. A basic hypothesis posited herein is that genomic regions carrying more functionally important sites will have a higher proportion of rare alleles. We estimated the proportions of rare single nucleotide polymorphisms with a minor allele frequency < 0.01 located in several histone marks in the first introns of various genes, and compared them with those in other introns and those in 2-kb upstream regions. As expected, rare alleles were found to be significantly enriched in most of the regulatory sites located in the first introns. Meanwhile, transcription factor binding sites were significantly more enriched in the 2-kb upstream regions (i.e., the regions of putative promoters of genes) than in the first introns. These results strongly support our proposal that the first intron sites of genes may have important regulatory functions in gene expression independent of promoters.