Choi, Hee Ji;Lee, Soo Bin;Kwon, Hye Mi;Choi, Byung-Ok;Chung, Ki Wha
Journal of Life Science
/
v.31
no.10
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pp.913-921
/
2021
Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.
The Journal of Korean Institute of Electromagnetic Engineering and Science
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v.21
no.6
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pp.670-680
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2010
A low power single-chip CMOS receiver for 60 GHz mobile application are proposed in this paper. The single-chip receiver consists of a 4-stage current re-use LNA with under 4 dB NF, Cgs compensating resistive mixer with -9.4 dB conversion gain, Ka-band low phase noise VCO with -113 dBc/Hz phase noise at 1 MHz offset from 26.89 GHz, high-suppression frequency doubler with -0.45 dB conversion gain, and 2-stage current re-use drive amplifier. The size of the fabricated receiver using a standard 0.13 ${\mu}m$ CMOS technology is 2.67 mm$\times$0.75 mm including probing pads. An RF bandwidth is 6.2 GHz, from 55 to 61.2 GHz and an LO tuning range is 7.14 GHz, from 48.45 GHz to 55.59 GHz. The If bandwidth is 5.25 GHz(4.75~10 GHz) The conversion gain and input P1 dB are -9.5 dB and -12.5 dBm, respectively, at RF frequency of 59 GHz. The proposed single-chip receiver describes very good noise performances and linearity with very low DC power consumption of only 21.9 mW.
Synchrotron radiation (SR) has several advantages over convetional x-rays, including its phase, collimation, and high flux. A synchrotron radiation beamline 5C1 at Pohang Light Source (PLS) was recently built for imaging applications. We have shown that a SR imaging system is useful in imaging microscopic structures. SR with broad-band energy spectrum were adjusted to an object by Si wafers and their energy were approximately ranging from 6 keV to 30 keV. SR were passed through an object and finally transformed into visible lights by CdWO$_4$ scintillator screen. The visible lights which were reflected at an angle of 90 degrees by gold plated mirror were detected by a CCD camera and the image data were acquired using image acquisition system. A high-resolution phantom, capacitor, adult tooth, child tooth, cancerous breast tissue, and mouse lumbar vertebra were imaged with SR imaging system. The Objects were rotated within the field of view of the CCD detector, and their projection image data were obtained at 250 steps over 180 degrees rotation. Image reconstructions were carried out in a PC by using IDLTM(Research systems, Inc., US) program. The spatial resolution of the images acquired by the SR imaging system was measured with a high-resolution chart manufactured for several micrometer resolution. The specimens were also imaged with conventional x-ray radiography system to compare the image quality of radiography obtained with the SR imaging system. The results showed more structural details and high contrast images with SR imaging system than conventional x-ray radiography system. The SR imaging system may have a potential for imaging in biological researches, material applications, and clinical radiography.
An endogenous phenoloxidase (EPO) from earthworm, Lumbricus rubellus, has been purified and characterized. The purified EPO using ammonium sulfate fractionation, Blue-2, Phenyl-, and Q-sepharose chromatography steps was revealed in SDS-PAGE as a single protein banri with Mr. of 59 kl)a. A native strudure of the enzyme was examined with an in situ staining of a nondenatudng-PAGE using DL-dopa as a substrate. The result showed that a single band due to the EPO activity was located siighdy above a standard polypeptide with Mr. of 210 kl)a. These fads indicate that the EPO is an oligomeric enzyme. The presence of a monophenolase activity of the purified EPO, which hydroxylates tyrosine to dopa, was confirmed by observing dopachrome accumulation at 475 nm at PH 8.0 with a typical lag phase during 60 mm. of meausrement. A series of inhibition study has been performed for the enzyme with several divalent cation chelators such as phenyithiourea (Flu), 1, lO-phenanthroline, EDTA, and EGTA. Among them, only V'flj inhibited the enzyme with 1C0.5 of 65 MM, which indicated that copper was critical for the catalysis of EPO. The enzyme was maximally active at 35'C and pH 8.0 when L-dopa to dopachrome conversion was spectrophotometricaily monitored at 475 nm. The apparent Km values of P0 for L-opa were obtained as 1.86 mM and 13.8 mM at pH 6.5 and 8.0, respectively. The catalytic efficiencies at both pH were almost identical [(kat/Km)pH8.0/(kcat/Km)pH6.5 = O.92] while the Vmax at p11 8.0 was 6.6-fold higher than that at pH 6.5. This fact may indicate that pH affeds the catalysis at substrate and/or enzyme-substrate complex level rather than the enzyme itself. Taken together, the EPO was an oligomeric enzyme which did not require proteolysis for its activation. These results also indicated that the enzyme can exist, at least, in part as a latent form In vivo, which might be distinct from the prophenoloxidase activating system. Therefore, it is pertinent to consider that there must be certain regulatory molecules or phenomena in L. rubellus which make the 1,0 in a latent form in vivo before the foreign invasions.
Variability is one of the major characteristics of Active Galactic Nuclei (AGN), and it is used for understanding the energy generation mechanism in the center of AGN and/or related physical phenomena. It it known that there exists a time lag between AGN light curves simultaneously observed at different wavelengths, which can be used as a tool to estimate the size of the area that produce the radiation. In this paper, We present long term near-infrared variability of optically bright type 1 AGN using the Wide-field Infrared Survey Explorer data. From the Milliquas catalogue v6.4, 73 type 1 QSOs/AGN and 140 quasar candidates are selected that are brighter than 18 mag in optical and located within 5 degree around the ecliptic poles. Light curves in the W1 band (3.4 ㎛) and W2 band (4.6 ㎛) during the period of 2010-2019 were constructed for these objects by extracting multi-epoch photometry data from WISE and NEOWISE all sky survey database. Variability was analyzed based on the excess variance and the probability Pvar. Applying both criteria, the numbers of variable objects are 19 (i.e., 26%) for confirmed AGN and 12 (i.e., 9%) for AGN candidates. The characteristic time scale of the variability (τ) and the variability amplitude (σ) were derived by fitting the DRW model to W1 and W2 light curves. No significant correlation is found between the W1/W2 magnitude and the derived variability parameters. Based on the subsample that are identified in the X-ray source catalog, there exists little correlation between the X-ray luminosity and the variability parameters. We also found four AGN with changing W1-W2 color.
The mitochondrial DNA(mtDNA) D-loop region was amplified from Duroc(Sus scrofa) by polymerase chain reaction(PCR). The oligonucleotide primer used to amplify the Sus scrofa mtDNA D-loop region was designed using tRNA-Pro and tRNA-Phe sequence in mtDNA regions highly conserved in many other animal species. There were 1,145 base pairs(bp) in the D-loop region. The middle of the region contained 10 tandem repeat of an 10-bp Sus scrofa-specific sequence, TACACGTGCG. We designed primers for PCR-mediated single stranded conformation polymorphism(SSCP) analysis that amplified a 345 bp fragment, which contained the most variable region according to our sequencing data. SSCP analysis of denatured amplification products was carried out by polyacrylamide(8%) gel electrophoresis followed by ethidium bromide staining. The SSCP analysis identified two band patterns(A and B) and comparision of these two nucleotide sequences identified 21 base substitutions. These results show that SSCP analysis of the D-loop region is useful for detecting the genetic polymorphism.
Proceedings of the Korean Vacuum Society Conference
/
2012.08a
/
pp.222-222
/
2012
Metal oxide gas sensors based on semiconductor type have attracted a great deal of attention due to their low cost, flexible production and simple usability. However, most works have been focused on n-type oxides, while the characteristics of p-type oxide gas sensors have been barely studied. An investigation on p-type oxides is very important in that the use of them makes possible the novel sensors such as p-n diode and tandem devices. Monoclinic cupric oxide (CuO) is p-type semiconductor with narrow band gap (~1.2 eV). This is composed of abundant, nontoxic elements on earth, and thus low-cost, environment-friendly devices can be realized. However, gas sensing properties of neat CuO were rarely explored and the mechanism still remains unclear. In this work, the neat CuO layers with highly ordered mesoporous structures were prepared by a template-free, one-pot solution-based method using novel ink solutions, formulated with copper formate tetrahydrate, hexylamine and ethyl cellulose. The shear viscosity of the formulated solutions was 5.79 Pa s at a shear rate of 1 s-1. The solutions were coated on SiO2/Si substrates by spin-coating (ink) and calcined for 1 h at the temperature of $200{\sim}600^{\circ}C$ in air. The surface and cross-sectional morphologies of the formed CuO layers were observed by a focused ion beam scanning electron microscopy (FIB-SEM) and porosity was determined by image analysis using simple computer-programming. XRD analysis showed phase evolutions of the layers, depending on the calcination temperature, and thermal decompositions of the neat precursor and the formulated ink were investigated by TGA and DSC. As a result, the formation of the porous structures was attributed to the vaporization of ethyl cellulose contained in the solutions. Mesoporous CuO, formed with the ink solution, consisted of grains and pores with nano-meter size. All of them were strongly dependent on calcination temperature. Sensing properties toward H2 and C2H5OH gases were examined as a function of operating temperature. High and fast responses toward H2 and C2H5OH gases were discussed in terms of crystallinity, nonstoichiometry and morphological factors such as porosity, grain size and surface-to-volume ratio. To our knowledge, the responses toward H2 and C2H5OH gases of these CuO gas sensors are comparable to previously reported values.
ANIR (Atacama Near InfraRed camera) is a near infrared camera for the University of Tokyo Atacama 1m telescope, installed at the summit of Co. Chajnantor (5,640 m altitude) in northern Chile. The high altitude and extremely low water vapor (PWV = 0.5 mm) of the site enable us to perform observation of hydrogen $Pa{\alpha}$ emission line at $1.8751{\mu}m$. Since its first light observation in June 2009, we have been carrying out a $Pa{\alpha}$ narrow-band imaging survey of nearby luminous infrared galaxies (LIRGs), and have obtained $Pa{\alpha}$ for 38 nearby LIRGs listed in AKARI/FIS-PSC at the velocity of recession between 2,800 km/s and 8,100 km/s. LIRGs are affected by a large amount of dust extinction ($A_V$~ 3 mag), produced by their active star formation activities. Because $Pa{\alpha}$ is the strongest hydrogen recombination line in the infrared wavelength ranges, it is a good and direct tracer of dust-enshrouded star forming regions, and enables us to probe the star formation activities in LIRGs. We find that LIRGs have two star-forming modes. The origin of the two modes probably come from differences between merging stage and/or star-forming process.
Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
/
2009.11a
/
pp.114-114
/
2009
ZnO has received considerable attention due to its potential applicability to optoelectronic devices such as ultraviolet-light emitting diodes (UVLEDs) and laser diodes (LDs). As well known, however, polar ZnO with the growth direction along the c-axis has spontaneous and piezoelectric polarizations that will result in decreased quantum efficiency. Recently, nonpolar ZnO has been studied to avoid such a polarization effect. In order to realize applications of nonpoar ZnO-based films to LEDs, growth of high quality alloys for quantum well structures is one of the important tasks that should be solved. $Mg_xZn_{1-x}O$ and $Cd_xZn_{1-x}O$ is ones of most promising alloys for this application because the alloys of ZnO with MgO and CdO provide a wide range of band-gap engineering spanning from 2.4 to 7.8 eV. In this study, we investigated on $Mg_xZn_{1-x}O$ films grown with various Mg/Zn flux ratios The films were grown on R-plane sapphire substrates by plasma-assisted molecular beam epitaxy (PAMBE). we investigated on $Mg_xZn_{1-x}O$ films grown with various Mg/Zn flux ratios. The films were grown on R-plane sapphire substrates by plasma-assisted molecular beam epitaxy (PAMBE). With the relatively low Mg/Zn flux ratios, a typical striated anisotropic surface morphology which was generally observed from the nonpolar (11-20) ZnO film on r-plane sapphire substrates. By increasing the Mg/Zn flux ratio, however, additional islands were appeared on the surface and finally the surface morphology was entirely changed, which was generally observed for the (0001) polar ZnO films by losing the striated morphology. Investigations by X-ray $\Theta-2{\Theta}$ diffraction revealed that (0002) and (10-11) ZnO planes are appeared in $Mg_xZn_{1-x}O$ films by increasing the Mg/Zn flux ratio. Further detailed investigation by transmission electron microscopy (TEM) and photoluminescence (PL) will be discussed.
Kim, Jun-Kwan;Song, Jung-Hoon;An, Hye-Jin;Choi, Hye-Kyoung;Jeong, So-Hee
Proceedings of the Korean Vacuum Society Conference
/
2012.08a
/
pp.189-189
/
2012
Lead sulfide (PbS) nanocrystal quantum dots (NQDs) are promising materials for various optoelectronic devices, especially solar cells, because of their tunability of the optical band-gap controlled by adjusting the diameter of NQDs. PbS is a IV-VI semiconductor enabling infrared-absorption and it can be synthesized using solution process methods. A wide choice of the diameter of PbS NQDs is also a benefit to achieve the quantum confinement regime due to its large Bohr exciton radius (20 nm). To exploit these desirable properties, many research groups have intensively studied to apply for the photovoltaic devices. There are several essential requirements to fabricate the efficient NQDs-based solar cell. First of all, highly confined PbS QDs should be synthesized resulting in a narrow peak with a small full width-half maximum value at the first exciton transition observed in UV-Vis absorbance and photoluminescence spectra. In other words, the size-uniformity of NQDs ought to secure under 5%. Second, PbS NQDs should be assembled carefully in order to enhance the electronic coupling between adjacent NQDs by controlling the inter-QDs distance. Finally, appropriate structure for the photovoltaic device is the key issue to extract the photo-generated carriers from light-absorbing layer in solar cell. In this step, workfunction and Fermi energy difference could be precisely considered for Schottky and hetero junction device, respectively. In this presentation, we introduce the strategy to obtain high performance solar cell fabricated using PbS NQDs below the size of the Bohr radius. The PbS NQDs with various diameters were synthesized using methods established by Hines with a few modifications. PbS NQDs solids were assembled using layer-by-layer spin-coating method. Subsequent ligand-exchange was carried out using 1,2-ethanedithiol (EDT) to reduce inter-NQDs distance. Finally, Schottky junction solar cells were fabricated on ITO-coated glass and 150 nm-thick Al was deposited on the top of PbS NQDs solids as a top electrode using thermal evaporation technique. To evaluate the solar cell performance, current-voltage (I-V) measurement were performed under AM 1.5G solar spectrum at 1 sun intensity. As a result, we could achieve the power conversion efficiency of 3.33% at Schottky junction solar cell. This result indicates that high performance solar cell is successfully fabricated by optimizing the all steps as mentioned above in this work.
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