• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.24-28
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• 2020

Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.

• Journal of Animal Science and Technology
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• v.51 no.3
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• pp.193-200
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• 2009

The pork from black-coated pigs is famous among-consumers for better eating quality. The loci affecting black coat color was identified in pig chromosome 6 in which several genetic effects on pork quality have been reported. The melanocortin 1 receptor (MC1R) gene is a major gene which plays a key role in regulation of eumelanin (black/brown) and phaeomelanin (red/yellow). In this study, the MC1R gene polymorphism was analyzed for pig breed determination and genetic association with pork quality traits. MC1R Ala243Thr variation was analyzed to determine a specific genotype for four commercial pig breeds (Landrace, Yorkshire, Berkshire and, Duroc) and a Korean native pigs (KNP). Then we developed original KNP-specific DNA markers to determine the pork from black-coated pigs using MC1R DNA sequences. The total length of the MC1R coding sequence ranged 1451bp in KNP. KNP had the 0201 allele pertaining to $E^{D1}$ but some of the KNP had the $E^P$ allele, probably reflecting the geneticintrogression of $E^P$ allele into KNP. Furthermore, a relationship between Leu102Pro single nucleotide polymorphism (SNP) genotype and pork quality phenotype were analyzed in F2 reciprocal-crossbred population between KNP and Yorkshire. Association analysis indicated that the allele of the MC1R gene has no effect on pork quality. These results suggest that black coat-color is not directly associated with preferred pork quality, but the black-coat color pig breed may have other genetic components for superior pork quality.

• Journal of the Korea Concrete Institute
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• v.20 no.5
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• pp.573-581
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• 2008

In general, conventional sheeting H-pile is often used as a temporary member installed upon construction of outer retaining wall at basement floor. In CBW (composite basement wall), R/C basement wall is combined with H-Pile and resists lateral soil pressure together. This paper presents an experimental results of push out shear test of CBW with stud coupler as shear connectors to combine H-Pile with R/C wall six specimens with different diameter of FT (form tie) and arrangement of shear connectors were tested to evaluate the shear capacity of the composite wall. Test results showed that shear strength increased with diameter of FT. The shear strength of shear connector in CBW could be suitably predicted by using the previous equations codified in the codes. Best correlation, especially, was found when the calculation result by the formula in AISC 360-05 was compared to test one.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1252-1255
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• 2005

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.

• Proceedings of the Korean Powder Metallurgy Institute Conference
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• 2001.11a
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• pp.28-28
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• 2001

$Bi_2Te_3$계 열전반도체 재료는 200 ~ 400K 정도의 저온에서 에너지 변환 효율이 가장 높은 재료로서 열전냉각 및 발전재료로 제조볍 및 특성에 관한 많은 연구가 진행되어 왔다. 전자냉각 모듈의 제조에는 P형 및 N형 $Bi_2Te_3$계 단결정이 주로 사용되고 있으나. $Bi_2Te_3$ 단결정은 C축에 수직한 벽개면을 따라 균열이 쉽게 전파하기 때문에 소자 가공사 수윤 저하가 가장 큰 문제점으로 지적되고 있다. 이에 따라 최근 열전재료의 가공방법에 따른 회수율 증가 및 열전특성 향상에 관한 열간압출, 단조와 같은 연구가 활발히 이루어지고 있다. 본 연구는 가스분사법(gas atomizer)을 이용하여 용질원자 편석의 감소, 고용도의 증가,균일고용체 형성, 결정립미세화 둥 급속응고의 장점을 이용하여 화학적으로 균질한$Bi_2Te_3$계 열전재료 분말을 제조하고, 제조된 분발을 압출가공하여 기계적성질, 소자의 가공성 및 열전 성능 지수율 향상시키는데 연구 목적이 있다. 본 설험에서는 99.9%이상의 고순도 Bi. Te. Se. Sb를 이용하여, 고주파 유도로에서 Ar 분위기로 용융하고, 가스분사법를 이용하여 균질한 $Bi_2Te_3$계 열전재료 분만을 제조하였다. 분말표면의 산화막을 제거하기 위하여 수소분위기에서 환원처리를 행하였고, 된 분말을 Al 캔 주입하여 냉간성형 한 후 진공중에서 압출온도를 변화시켜 열간압출 가공을 행하였다. 압출 온도변화에 따른 압출재의 미세조직 및 열전특성에 중요한 영향을 미치는 C면 배향에 대한 결정방위 해석, 압출재의 압축강도 등을 분석하였으며, 압출온도에 따삼 미세조직 변화와 결정방위의 변화에 따른 열전특성의 관계를 해석하였다성시켰고 이들이 산인 HNO3에서 녹았기 때문이다. 본 연구에서 개발된 새로운 에칭 용액인 90H2O2 - 10HNO3 (vol%)의 에칭 원리가 똑같이 적용 가능한 다른 종류의 초경 합금에서도 사용이 가능할 것으로 판단된다.로 판단된다.멸과정은 다음과 같다. 출발물질인 123 분말이 211과 액상으로 분해될 때 산소가스가 배출되며, 이로 인해 액상에서 구형의 기공이 생성된다. 이들 중 일부는 액상으로 채워져 소멸되나, 나머지는 그대로 남는다. 특히, 시편 중앙에 서는 수십-수백 마이크론 크기의 커다란 기공이 다수 관찰된는데, 이는 기공의 합체로 만들어진 것이다. 포정반응 열처리 시 기공 소멸로 만들어진 액상포켓들은 주변 211 입자와 반응하여 123 영역으로 변한다. 이곳은 다른 지역과 비교하여 211 밀도 가 낮기 때문에, 미반응 액상이 남거나 211 밀도가 낮은 123 영역이 된다. 액상으로 채워지지 못한 구형의 기공들 중 다수가 123 결정 내로 포획되며, 그 형상은 액상/ 기공/고상 계면에너지에 의해 결정된다.단의 경우, 파단면이 매끄럽고 파변상의 결정립도 매우 미세하였으며, 산확물 의 용집도 찾아보기 어려웠 나, 접합부 파단의 경우에는 파변의 굴곡이 비교척 심하고 연성 입계파괴의 형태를 보였￡며, 결정립도 모채부 파단의 경우에 비해 조대하였다. 조대하였다. 셋째, 주상기간 중 총 에너지 유입률 지수와 $Dst_{min}$ 사이에 높은 상관관계가 확인되었다. 특히 환전류를 구성하는 주요 입자의 에너지 영역(75~l13keV)에서 가장 높은(0.80) 상관계수를 기록했다. 넷째, 회복기 중에 일어나는 입자들의 유입은 자기폭풍의 지속시간을 연장시키는 경향을 보이며 큰 자기폭풍일수록 현저했다. 주상에서 관측된 이러한 특성은 서브스톰 확장기 활동이 자기폭풍의

• Tunnel and Underground Space
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• v.22 no.1
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• pp.69-76
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• 2012

Theoretical backgrounds on the experimental methods of explosive welding, explosive forming and shock consolidation of powders are introduced. Explosive welding experiments of titanium (Ti) and stainless steel (SUS 304) plate were carried out. It was revealed that a series of waves of metal jet are generated in the contact surface between both materials; and that the optimal collision velocity and collision angle is about 2,100~2,800 m/s and $15{\sim}20^{\circ}$, respectively. Also, explosive forming experiments of Al plate were performed and compared to a conventional press forming method. The results confirmed that the shock-loaded Al plate has a larger curvature deformation than those made using conventional press forming. For shock consolidation of powders, the propagation behaviors of a detonation wave and underwater shock wave generated by explosion of an explosive are investigated by means of numerical calculation. The results revealed that the generation and convergence of reflected waves occur at the wall and center position of water column, and also the peak pressure of the converged reflected waves was 20 GPa which exceeds the detonation pressure. As results from the consolidation experiments of metal/ceramic powders ($Fe_{11.2}La_2O_3Co_{0.7}Si_{1.1}$), shock-consolidated $Fe_{11.2}La_2O_3Co_{0.7}Si_{1.1}$ bulk without cracks was successfully obtained by adapting the suggested water container and strong bonding between powder particles was confirmed through microscopic observations.

• Journal of the Korean Chemical Society
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• v.54 no.3
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• pp.261-268
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• 2010

In this account, three synthetic methodologies that serve as the basis for new strategies for the preparation of selected natural products are briefly introduced. One process, involving ruthenium carbene catalyzed ring rearrangement metathesis developed by Grubbs and his coworkers, transforms alkene-tethered cycloalkenes to thermodynamically more favored alkene-tethered cycloalkenes. Another ruthenium carbene promoted reaction, referred to as dienyne metathesis, was uncovered in early studies by Grubbs and his collaborators. This process converts dienynes to fused bicyclic conjugated dienes. Finally, a novel photo-electrocyclization reaction of pyridinium salts, which leads to the formation of 4-aminocyclopenten-3,5-diol derivatives, is discussed. Examples are provided to show the utility of these methodologies in natural product synthesis. Emphasis is given to studies in which pyridinium salt photochemistry is coupled with ring rearrangement and dienyne metathesis in routes for the synthesis of polyhydroxyalted indolizidine alkaloids and the construction of the tricyclic core of the lepadiformine and cylindricine alkaloids.

• Journal of Korean Society of Steel Construction
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• v.24 no.3
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• pp.267-278
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• 2012

In general, the H-shaped steel ribs or triangular lattice girders have been mostly used in constructing tunnels through the NATM construction method. The H-shaped steel rib has higher flexural and axial strength than the triangular lattice girder, but many unexpected gaps can occur in the concrete lining system after shotcreting if the H-shaped steel rib is used as the support system. To achieve better shotcreting quality, the triangular lattice girder was developed. However, in general, the triangle lattice girder has low flexural and axial strength. Likewise, the triangular lattice girder, which has circular sectional members, has so many fractures from welded points at the joints between the members. Finally, the new type of tetragonal lattice girder was developed to overcome those problems. In this study, the structural performance of the tetragonal lattice girders was evaluated through analytical and experimental studies. In the analytical studies, the four-point bending analysis, the traditional evaluation method to determine the flexural strength of the lattice girder, was performed. Moreover, the linear-elastic analysis and stability analysis of the arch structure made by the lattice girders were performed to measure structural performance. Experiments were likewise performed to compare the structural performances of the tetragonal girder with traditional triangular lattice girders.

• Journal of the korean academy of Pediatric Dentistry
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• v.43 no.3
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• pp.299-305
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• 2016

The aim of this study was to identify the causative genetic mutation in a family with non-syndromic oligodontia. The 7-year-old female proband and her mother underwent oral examination, panoramic radiographs were obtained and blood samples were collected. All exons of the PAX9 gene were amplified by polymerase chain reaction and sequenced. The sequencing results were compared with the standard human gene sequence. The proband lacked 11 permanent teeth, and her mother lacked 19 permanent teeth. No other birth defects were observed. As a result of gene analysis, there was a novel heterozygous nonsense mutation (c.184G>T, $p.Glu62^*$) in exon 2 in both affected subjects. It is suspected that the nonsense mutation leads premature termination of translation, yields a truncated protein 280 amino acids shorter than the wild-type protein. These defects include parts of the paired box domain, a DNA-binding site that plays an essential role in protein function. Otherwise, more likely the mutant transcript would be degraded by nonsense-mediated decay system, resulting haploinsufficiency to cause oligodontia in this family.

• Journal of Aquaculture
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• v.11 no.3
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• pp.353-361
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• 1998

Genetic analysis of body pigmentation pattern has been conducted by the reciprocal monohybrid and back crosses using the wild type zebrafish, Danio rerio, and its aquarium morphs (mutants), leopard danio. Also, the effect fo pigmentation mutation was investigated with regard to the survival rates of eggs and larvae for the first 15 days after fertilization. As a result, the pattern pigment distribution was inherited by a single gene having two alleles, and which was basically followed by the principle of dominace and segregaion in Mendelian inheritance. A locus for pigment pattern turned out to be located on an autosomal chromosome. Average survival rates estimated from the various crosses between, and within, wild type zebrafish and leopard danio were as follows ; they were 80.6${\pm}$4.8% from the crosses within leopard danios ($L{\times}L$), 70.6${\pm}$4.2% between leopard female and wild type male ($L{\times}Z$), 73.2${\pm}$2.0% between wild type female and leopard male ($Z{\times}L$), and 83.8${\pm}$6.7% within wild type zebrafish ($Z{\times}Z$). These results indicated that the leopard danio, which were reported as an "aquarium morph" several decades ago and also known as a mutant in pigmentation pattern of the wild type zebrafish, seemed to be genetically stable like the wild type of zebrafish.zebrafish.