• Title/Summary/Keyword: RS:X

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A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

  • Kim, Da Hyun;Heo, Sun Hee;Seo, Go Hun;Oh, Arum;Kim, Taeho;Kim, Gu-Hwan;Yoon, Young Hee;Yoo, Han-Wook;Lee, Beom Hee
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.13-16
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    • 2018
  • X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

A Construction of the Multiplier and Inverse Element Generator over $GF(3^m)$ ($GF(3^m)$ 상의 승산기 및 역원생성기 구성)

  • 박춘명;김태한;김흥수
    • Journal of the Korean Institute of Telematics and Electronics
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    • v.27 no.5
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    • pp.747-755
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    • 1990
  • In this paper, we presented a method of constructing a multiplier and an inverse element generator over finite field GF(3**m). We proposed the multiplication method using a descending order arithmetics of mod F(X) to perform the multiplication and mod F(X) arithmetics at the same time. The proposed multiplier is composed of following parts. 1) multiplication part, 2) data assortment generation part and 5) multiplication processing part. Also the inverse element generator is constructed with following parts. 1) multiplier, 2) group of output registers Rs, 3) multiplication and cube selection gate Gl, 4) Ri term sequential selection part. 5) cube processing part and 6) descending order mod F(X) generation part. Especially, the proposed multiplier and inverse element generator give regularity, expansibility and modularity of circuit design.

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ON 𝜙-SCHREIER RINGS

  • Darani, Ahmad Yousefian;Rahmatinia, Mahdi
    • Journal of the Korean Mathematical Society
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    • v.53 no.5
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    • pp.1057-1075
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    • 2016
  • Let R be a ring in which Nil(R) is a divided prime ideal of R. Then, for a suitable property X of integral domains, we can define a ${\phi}$-X-ring if R/Nil(R) is an X-domain. This device was introduced by Badawi [8] to study rings with zero divisors with a homomorphic image a particular type of domain. We use it to introduce and study a number of concepts such as ${\phi}$-Schreier rings, ${\phi}$-quasi-Schreier rings, ${\phi}$-almost-rings, ${\phi}$-almost-quasi-Schreier rings, ${\phi}$-GCD rings, ${\phi}$-generalized GCD rings and ${\phi}$-almost GCD rings as rings R with Nil(R) a divided prime ideal of R such that R/Nil(R) is a Schreier domain, quasi-Schreier domain, almost domain, almost-quasi-Schreier domain, GCD domain, generalized GCD domain and almost GCD domain, respectively. We study some generalizations of these concepts, in light of generalizations of these concepts in the domain case, as well. Here a domain D is pre-Schreier if for all $x,y,z{\in}D{\backslash}0$, x | yz in D implies that x = rs where r | y and s | z. An integrally closed pre-Schreier domain was initially called a Schreier domain by Cohn in [15] where it was shown that a GCD domain is a Schreier domain.

Integrative Study on PPARGC1A: Hypothalamic Expression of Ppargc1a in ob/ob Mice and Association between PPARGC1A and Obesity in Korean Population

  • Hong, Mee-Suk;Kim, Hye-Kyung;Shin, Dong-Hoon;Song, Dae-Kyu;Ban, Ju Yeon;Kim, Bum Shik;Chung, Joo-Ho
    • Molecular & Cellular Toxicology
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    • v.4 no.4
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    • pp.318-322
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    • 2008
  • Obesity is an increasing worldwide health problem that is strongly related to the imbalance of food intake and energy metabolism. It was well-known that several substances in the hypothalamus regulate food intake and energy metabolism. We planned an integrative study to elucidate the mechanism of the development of obesity. Firstly, to find candidate genes with the marvelous effect, the different expression in the hypothalamus between ob/ob and 48-h fasting mice was investigated by using DNA microarray technology. As a result, we found 3 genes [peroxisome proliferator activated receptor, gamma, coactivator 1 alpha (Ppargc1a), calmodulin 1 (Calm1), and complexin 2 (Cplx2)] showing the different hypothalamic expression between ob/ob and 48-h fasting mice. Secondly, a genetic approach on PPARGC1A gene was performed, because PPARGC1A acts as a transcriptional coactivator and a metabolic regulator. Two hundred forty three obese female patients with body mass index (BMI)${\geq}$25 and 285 control female subjects with BMI 18 to<23 were recruited according to the Classification of Korean Society for the Study of Obesity. Among the coding single nucleotide polymorphisms (cSNPs) of PPARGC1A, 2 missense SNPs (rs8192678, Gly482Ser; rs3736265, Thr612Met) and 1 synonymous SNP (rs3755863, Thr528Thr) were selected, and analyzed by PCR-RFLP and pyrosequencing. For the analysis of genetic data, chi-square ($X^2$) test and EH program were used. The rs8192678 was significantly associated with obese women (P<0.0006; odds ratio, 1.5327; 95% confidence interval, 1.2006-1.9568). Haplotypes also showed significant association with obese women ($X^2$=33.28, P<0.0008). These results suggest that PPARGC1A might be related to the development of obesity.

Two Crystal Structures of Ag+-and TI+-Exchanged Zeolite X, Ag27TI65-X and Ag23TI69-X

  • Kim, Soo-Yeon;Choi, Eun-Young;Kim, Yang
    • Bulletin of the Korean Chemical Society
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    • v.23 no.12
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    • pp.1759-1764
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    • 2002
  • Two crystal structures of dehydrated $Ag^+-andTl^+$-exchanged zeolite X$Ag_{27}Tl_{65-}X\;and\;Ag_{23}Tl_{69-}X$have been determined by single-crystal X-ray diffraction techniques in the cubic space group Fd3 at 21(1) $^{\circ}C(a=24.758(4)\AAa=24.947(4)$, ${\AA}respectively).$, Their structures were refined to the final error indices $R_1$=0.055 and $wR_2$=0.057 with 375 reflections, and $R_1$=0.057 and $wR_2$=0.057 with 235 reflections, respectively, for which I > $3\sigma(I).$ In the structure of $Ag_{27}Tl_{65-}X,\;27\;Ag^+$ ions were found at two crystallographic sites: 15$Ag^+$ ions at site I at the center of the hexagonal prism and the remaining 12$Ag^+$ ions at site II' in the sodalite cavity. Sixty-five $Tl^+$ ions were located at three crystallographic sites: 20$Tl^+$ ions at site II opposite single six-rings in the supercage, 18$Tl^+$ ions at site I' in the sodalite cavity opposite the D6Rs, and the remaining 27$Tl^+$ ions at site III' in the supercage. In the structure of $Ag_{23}Tl_{69-}X$, 23$Ag^+$ ions were found at two crystallographic sites: 15 at site I and 8 at site II'. Sixty-nine $Tl^+$ ions are found at four crystallographic sites: 24 at site II, 17 at stie I', and the remaining 28 at two III' sites with occupancies of 22 and 6.

Changes in the Surface Characteristics of Gas-atomized Pure Aluminum Powder during Vacuum Degassing

  • Yamasaki, Michiaki;Kawamura, Yoshihito
    • Proceedings of the Korean Powder Metallurgy Institute Conference
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    • 2006.09b
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    • pp.1039-1040
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    • 2006
  • Vacuum degassing is essential in the preparation of RS P/M aluminum alloys to remove adsorbates and for the decomposition of hydrated-$Al_{2}O_3$ on the powder surface. Changes in the surface characteristics during vacuum degassing were investigated by X-ray photoelectron spectroscopy and temperature-programmed desorption measurement. Hydrated-$Al_{2}O_3$ decomposition to crystalline-$Al_{2}O_3$ and hydrogen desorption on the surface of argon gas-atomized aluminum powder occurred at 623 K and 725 K, respectively. This temperature difference suggests that the reaction converting hydrated-$Al_{2}O_3$ to crystalline-$Al_{2}O_3$ during vacuum degassing should be divided into the two reactions $"2Al+Al_{2}O_3{\cdot}3H_2O\;2Al_{2}O_3+6H_{surf}"and"6H_{surf}3H_2"$.

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Evaluation of corrosion resistance of Co-Cr alloys fabricated with different metal laser sintering systems

  • Tuna, Suleyman Hakan;Karaca, Erhan;Aslan, Ismail;Pekkan, Gurel;Pekmez, Nuran Ozcicek
    • The Journal of Advanced Prosthodontics
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    • v.12 no.3
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    • pp.114-123
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    • 2020
  • PURPOSE. The aim of this study was to evaluate the corrosion resistance of the specimens produced by five different commercial metal laser sintering (MLS) systems with their recommended Co-Cr alloy powders. MATERIALS AND METHODS. The MLS machines and the alloy powders used were, ProX 100-ST2724G (St-Pro), Mysint 100-EOS SP2 (SP2-Mys), EOSINT 270-EOS SP2 (SP2-EOS), SLM 100-Starbond CoS (SB-SLM), and MLab Cusing-Remanium® Star (RS-MLab), respectively. Eight specimens from each group were prepared. Open circuit potential (Eocp) and electrochemical impedance spectroscopy (EIS) measurements of polished surfaces of the specimens were conducted in a three-electrode cell using a potentiostat-galvanostat in Fusayama-Meyer artificial saliva (AS). Specimens from each group were immersed in AS and de-ionized water for seven days. Eocp, charge transfer resistance (Rct) values, and released ions (㎍/㎠ × 7d) in different solutions were determined. The specimen surfaces were observed with SEM/EDS. Results were analyzed statistically. RESULTS. Eocp values have shifted to potentials that are more positive over time. Steady-state Eocp values were from high to low as follows, SB-SLM, SP2-Mys, SP2-EOS, RS-MLab, and ST-Pro, respectively. After 60 mins, RS-MLab specimens had the highest Rct value, followed by SP2-Mys, SB-SLM, SP2-EOS, and ST-Pro. In all groups, ion release was higher in AS than that in de-ionized water. CONCLUSION. There were small differences among the corrosion resistances of the Co-Cr alloy specimens produced with MLS systems; meanwhile, the corrosion resistances were quite high for all specimens.

Molecular docking study on the α3β2 neuronal nicotinic acetylcholine receptor complexed with α-Conotoxin GIC

  • Lee, Che-Wook;Lee, Si-Hyung;Kim, Do-Hyoung;Han, Kyou-Hoon
    • BMB Reports
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    • v.45 no.5
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    • pp.275-280
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    • 2012
  • Nicotinic acetylcholine receptors (nAChRs) are a diverse family of homo- or heteropentameric ligand-gated ion channels. Understanding the physiological role of each nAChR subtype and the key residues responsible for normal and pathological states is important. ${\alpha}$-Conotoxin neuropeptides are highly selective probes capable of discriminating different subtypes of nAChRs. In this study, we performed homology modeling to generate the neuronal ${\alpha}3$, ${\beta}2$ and ${\beta}4$ subunits using the x-ray structure of the ${\alpha}1$ subunit as a template. The structures of the extracellular domains containing ligand binding sites in the ${\alpha}3{\beta}2$ and ${\alpha}3{\beta}4$ nAChR subtypes were constructed using MD simulations and ligand docking processes in their free and ligand-bound states using ${\alpha}$-conotoxin GIC, which exhibited the highest ${\alpha}3{\beta}2$ vs. ${\alpha}3{\beta}4$ discrimination ratio. The results provide a reasonable structural basis for such a discriminatory ability, supporting the idea that the present strategy can be used for future investigations on nAChR-ligand complexes.

Evaluation of Computer-Assisted Quantitative Volumetric Analysis for Pre-Operative Resectability Assessment of Huge Hepatocellular Carcinoma

  • Tang, Jian-Hua;Yan, Fu-Hua;Zhou, Mei-Ling;Xu, Peng-Ju;Zhou, Jian;Fan, Jia
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3045-3050
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    • 2013
  • Purpose: Hepatic resection is arguably the preferred treatment for huge hepatocellular carcinoma (H-HCC). Estimating the remnant liver volume is therefore essential. This study aimed to evaluate the feasibility of using computer-assisted volumetric analysis for this purpose. Methods: The study involved 40 patients with H-HCC. Laboratory examinations were conducted, and a contrast CT-scan revealed that 30 cases out of the participating 40 had single-lesion tumors. The remaining 10 had less than three satellite tumors. With the consensus of the team, two physicians conducted computer-assisted 3D segmentation of the liver, tumor, and vessels in each case. Volume was automatically computed from each segmented/labeled anatomical field. To estimate the resection volume, virtual lobectomy was applied to the main tumor. A margin greater than 1 cm was applied to the satellite tumors. Resectability was predicted by computing a ratio of functional liver resection (R) as (Vresected-Vtumor)/(Vtotal-Vtumor) x 100%, applying a threshold of 50% and 60% for cirrhotic and non-cirrhotic cases, respectively. This estimation was then compared with surgical findings. Results: Out of the 22 patients who had undergone hepatectomies, only one had an R that exceeded the threshold. Among the remaining 18 patients with non-resectable H-HCC, 12 had Rs that exceeded the specified ratio and the remaining 6 had Rs that were < 50%. Four of the patients who had Rs less than 50% underwent incomplete surgery due to operative findings of more extensive satellite tumors, vascular invasion, or metastasis. The other two cases did not undergo surgery because of the high risk involved in removing the tumor. Overall, the ratio of functional liver resection for estimating resectability correlated well with the other surgical findings. Conclusion: Efficient pre-operative resectability assessment of H-HCC using computer-assisted volumetric analysis is feasible.

Effect of Sr Addition on Mechanical and Corrosion Properties of Mg-Zn-Ca Alloy for Biodegradable Implant Material (생체 분해성 임플란트용 Mg-Zn-Ca 합금의 기계적 및 부식특성에 미치는 Sr 첨가의 영향)

  • Kong, Bo-Kwan;Cho, Dae-Hyun;Yun, Pil-Hwan;Lee, Jeong-Hun;Park, Jin-Young;Park, Ik-Min
    • Journal of Korea Foundry Society
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    • v.35 no.6
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    • pp.155-162
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    • 2015
  • The effect of Sr addition on mechanical and bio-corrosion properties of as-cast Mg-3wt.%Zn-0.5wt.%Ca-xwt.%Sr (x = 0.3, 0.6, 0.9) alloys were examined for application as biodegradable implant material. The microstructure, mechanical properties and corrosion resistance of the as-cast Mg-Zn-Ca-Sr alloys were characterized by using optical microscopy, scanning electron microscopy, tensile testing and electrochemical measurement in Hank's solution. The as-cast alloys contained ${\alpha}$-Mg and eutectic $Ca_2Mg_6Zn_3$ phases, while the alloys contained ${\alpha}$-Mg, $Ca_2Mg_6Zn_3$ and Mg-Zn-Ca-Sr intermetallic compound when the Sr addition was more than 0.3 wt.%. The yield strength, ultimate tensile strength and elongation increased with the increasing of Sr content up to 0.6 wt.% but decreased in the 0.9 wt.% Sr-added alloy, whereas the corrosion resistance of 0.3 wt.% Sr-added alloy was superior to other alloys. It was thought that profuse Mg-Zn-Ca-Sr intermetallic compound deteriorated both the mechanical properties and corrosion resistance of the as-cast alloy.