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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China

  • Zhang, Wen;Lin, Ruizhu;Lu, Zhikun;Sheng, Huiying;Xu, Yi;Li, Xiuzhen;Cheng, Jing;Cai, Yanna;Mao, Xiaojian;Liu, Li
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.23 no.6
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    • pp.558-566
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    • 2020
  • Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.

Characterization and Gene Co-expression Network Analysis of a Salt Tolerance-related Gene, BrSSR, in Brassica rapa (배추에서 염 저항성 관련 유전자, BrSSR의 기능 검정 및 발현 네트워크 분석)

  • Yu, Jae-Gyeong;Lee, Gi-Ho;Park, Ji-Hyun;Park, Young-Doo
    • Horticultural Science & Technology
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    • v.32 no.6
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    • pp.845-852
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    • 2014
  • Among various abiotic stress factors, soil salinity decreases the photosynthetic rate, growth, and yield of plants. Recently, many genes have been reported to enhance salt tolerance. The objective of this study was to characterize the Brassica rapa Salt Stress Resistance (BrSSR) gene, of which the function was unclear, although the full-length sequence was known. To characterize the role of BrSSR, a B. rapa Chinese cabbage inbred line ('CT001') was transformed with pSL94 vector containing the full length BrSSR cDNA. Quantitative real-time polymerase chain reaction (qRT-PCR) analysis showed that the expression of BrSSR in the transgenic line was 2.59-fold higher than that in the wild type. Analysis of phenotypic characteristics showed that plants overexpressing BrSSR were resistant to salinity stress and showed normal growth. Microarray analysis of BrSSR over-expressing plants confirmed that BrSSR was strongly associated with ERD15 (AT2G41430), a gene encoding a protein containing a PAM2 motif (AT4G14270), and GABA-T (AT3G22200), all of which have been associated with salt tolerance, in the co-expression network of genes related to salt stress. The results of this study indicate that BrSSR plays an important role in plant growth and tolerance to salinity.

Effect of KOH Concentrations and Pyrolysis Temperatures for Enhancing NH4-N Adsorption Capacity of Rice Hull Activated Biochar (KOH 농도 및 탄화온도가 왕겨 활성 바이오차의 NH4-N 흡착능 향상에 미치는 영향)

  • Kim, HuiSeon;Yun, Seok-In;An, NanHee;Shin, JoungDu
    • Korean Journal of Environmental Agriculture
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    • v.39 no.3
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    • pp.171-177
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    • 2020
  • BACKGROUND: Recently, biomass conversion from agricultural wastes to carbon-rich materials such as biochar has been recognized as a promising option to maintain or increase soil productivity, reduce nutrient losses, and mitigate greenhouse gas emissions from the agro-ecosystem. This experiment was conducted to select an optimum conditions for enhancing the NH4-N adsorption capacity of rice hull activated biochar. METHODS AND RESULTS: For deciding the proper molarity of KOH for enhancing its porosity, biochars treated with different molarity of KOH (0, 1, 2, 4, 6, 8) were carbonized at 600℃ in the reactor. The maximum adsorption capacity was 1.464 mg g-1, and an optimum molarity was selected to be 6 M KOH. For the effect of adsorption capacity to different carbonized temperatures, 6 M KOH-treated biochar was carbonized at 600℃ and 800℃ under the pyrolysis system. The result has shown that the maximum adsorption capacity was 1.76 mg g-1 in the rice hull activated biochar treated with 6 M KOH at 600℃ of pyrolysis temperature, while its non-treated biochar was 1.17 mg g-1. The adsorption rate in the rice hull activated biochar treated with 6 M KOH at 600℃ was increased at 62.18% compared to that of the control. Adsorption of NH4-N in the rice hull activated biochar was well suited for the Langmuir model because it was observed that dimensionless constant (RL) was 0.97 and 0.66 at 600℃ and 800℃ of pyrolysis temperatures, respectively. The maximum adsorption amount (qm) and the bond strength constants (b) were 0.092 mg g-1 and 0.001 mg L-1, respectively, for the rice hull activated biochar treated with 6 M KOH at 600℃ of pyrolysis. CONCLUSION: Optimum condition of rice hull activated biochar was 6M KOH at 600℃ of pyrolysis temperature.

Improvement of MODIS land cover classification over the Asia-Oceania region (아시아-오세아니아 지역의 MODIS 지면피복분류 개선)

  • Park, Ji-Yeol;Suh, Myoung-Seok
    • Korean Journal of Remote Sensing
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    • v.31 no.2
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    • pp.51-64
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    • 2015
  • We improved the MODerate resolution Imaging Spectroradiometer (MODIS) land cover map over the Asia-Oceania region through the reclassification of the misclassified pixels. The misclassified pixels are defined where the number of land cover types are greater than 3 from the 12 years of MODIS land cover map. The ratio of misclassified pixels in this region amounts to 17.53%. The MODIS Normalized Difference Vegetation Index (NDVI) time series over the correctly classified pixels showed that continuous variation with time without noises. However, there are so many unreasonable fluctuations in the NDVI time series for the misclassified pixels. To improve the quality of input data for the reclassification, we corrected the MODIS NDVI using Correction based on Spatial and Temporal Continuity (CSaTC) developed by Cho and Suh (2013). Iterative Self-Organizing Data Analysis (ISODATA) was used for the clustering of NDVI data over the misclassified pixels and land cover types was determined based on the seasonal variation pattern of NDVI. The final land cover map was generated through the merging of correctly classified MODIS land cover map and reclassified land cover map. The validation results using the 138 ground truth data showed that the overall accuracy of classification is improved from 68% of original MODIS land cover map to 74% of reclassified land cover map.

Comparison of myofibrillar protein degradation, antioxidant profile, fatty acids, metmyoglobin reducing activity, physicochemical properties and sensory attributes of gluteus medius and infraspinatus muscles in goats

  • Adeyemi, Kazeem D.;Shittu, Rafiat M.;Sabow, Azad B.;Abubakar, Ahmed A.;Karim, Roselina;Karsani, Saiful A.;Sazili, Awis Q.
    • Journal of Animal Science and Technology
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    • v.58 no.6
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    • pp.23.1-23.17
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    • 2016
  • Background: The functionality of myofibrillar proteins is a major factor influencing the quality attributes of muscle foods. Nonetheless, the relationships between muscle type and oxidative changes in chevon during ageing are meagrely elucidated. Postmortem changes in antioxidant status and physicochemical properties of glycolytic gluteus medius (GM) and oxidative infraspinatus (IS) muscles in goats were compared. Methods: Twenty Boer bucks (9-10 months old, body weight of $36.9{\pm}0.725kg$) were slaughtered and the carcasses were subjected to chill storage ($4{\pm}0.5^{\circ}C$). Analyses were conducted on GM and IS muscles sampled on 0, 1, 4 and 7 d postmortem. Results: Chill storage did not affect the antioxidant enzyme activities in both muscles. The IS had greater (P < 0.05) superoxide dismutase and catalase activities than GM. Carotenoid and tocopherol contents did not differ between muscles but decreased (P < 0.05) over storage. The IS had higher (P < 0.05) glycogen and ultimate pH and lower (P < 0.05) shear force and cooking loss than GM. The carbonyl content, % metmyoglobin, drip loss and TBARS increased (P <0.05) while free thiol, metmyoglobin reducing activity (MRA), shear force and myoglobin decreased (P < 0.05) over storage. Muscle type had no effect (P > 0.05) on free thiol, MRA and TBARS. The GM had lower (P < 0.05) redness on d 0 and 1 than IS while the IS had greater carbonyl, % metmyoglobin and drip loss than GM on d 7. The reflective density of slow myosin heavy chain (MHC) was higher (P < 0.05) while the density of fast MHC and actin was lower (P < 0.05) in IS than GM. Regardless of muscle type, the density of MHC decreased (P < 0.05) while that of actin was stable over storage. Nonetheless, the degradation of fast and slow MHC was greater (P < 0.05) in IS than GM. Muscle type had no effect (P > 0.05) on consumer preference for flavour, juiciness and overall acceptability. However, IS had higher (P < 0.05) tenderness score than GM on d 1 and 4 postmortem. Intramuscular fat was higher (P< 0.05) in IS compared with GM. Fatty acid composition did not differ between the muscles. However, GM had lower (P < 0.05) n-6/n-3 ratio than IS. The n-3 and n-6 PUFA declined (P < 0.05) while the SFA increased (P < 0.05) over storage. Conclusion: The changes in myofibrillar proteins and physicochemical properties of goat meat during postmortem chill storage are muscle-dependent.

Nucleotide Sequence and Cloning of sfs4, One of the Genes Involved in the CRP-Dependent Expression of E. coli mal Genes. (CRP 의존성 maltose 대사 촉진 유전자 sfs4의 클로닝 및 염기배열 결정)

  • Chung, Soo-Yeol;Cho, Moo-Je;Jeong, Hee-Tae;Choi, Yong-Lark
    • Applied Biological Chemistry
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    • v.38 no.2
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    • pp.111-117
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    • 1995
  • In Escherichia coli, CRP forms a complex with cAMP and acts as a transcriptional regulator of many genes, including sugar metabolism operons. The E. coli MK2001, which is introduced the altered crp, is functional in the expression of lac, ara and man, in the absence of cAMP. However, the expression of mal gene is fully activated by the addition of cAMP or cGMP. The object of the study is cloning of the sfs (sugar fermentation stimulation) genes, which was involved in regulation of mal gene expression with the altered crp gene, and structural analysis and characterization of the genes at the molecular level. We have cloned 5 different E. coli genes which stimulate the maltose metabolism in a crp, cya::km (MK2001) background. Newly identified genes were designated as sfs. One of the sfs genes (pPC1), located at the 53.2 min map position on the E. coli chromosome, was further analyzed. Expression of the genes, which is involved in maltose metabolism, malQ (amylomaltase), was increased to 5.8-fold in the presence of a plasmid, pAP5, containing the subcloned sfs4 gene. The nucleotide seguence of a common 2,126 bp segment of the pPCM1 was determined and two open reading frames (ORF1 and ORF2) were detected. The ORF1 encodes the sfs4 gene and ORF2 encodes a truncated protein. Potential CRP binding site is located in the upstream of the putative promoter in the regulatory region. Expression of the cloned sfs4 gene was positively regulated by the cAMP-CRP complex.

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Agrobacterium-Mediated Transformation on a Plant with Saccharomyces cerevisiae Acid Phosphatse Gene(PHO5) (Agrobacterium을 이용한 Saccharomyces cerevisiae Acid Phosphatse 유전자 (PHO5) 의 식물체로의 도입)

  • Ki yong Kim;Dae yuong Son;Yong Gu Park;Won Il Jung;Jin Ki Jo
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.13 no.3
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    • pp.177-183
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    • 1993
  • This study was conducted to obtain the transformed tobacco plants with S. cerevisiae Acid phosphatase gene(PH05) using Agrobacterium tumefaciens and th confirm plant transformation and gene expression. the results obtained were summarized as follows: APase activity of Saccharomyces cereviase NA 87-11A was remarkably showed up as deep red color when assayed by Tohe and Oshima(1974). PH05 fragment, Apase gene, was obtained from pVC727G and the graphically estimated size was about 1.5kb by agarose gel electrophoresis. The sequencing results of 5'end and 3'end of PH05 using dideoxy chain termination method were coinsided with the full length nucleotide already. pBKJ I vector was constructed by isolation of PH05 fragment from pVC727-1 and pBKSI-1 digesred with Sma I and Xba I. Isolated plasmid from transformed A. tumefaciens with constructed pBKJ I when it was electrophoresed with agarose gel. The dosc of tobacco leaf was cocultivated 재소 transformed Agronacterium tumefaciens. Transformed shoots were selected on kanamtcin-containing MS-n/B medium and they were regenerated. The transgenic tobacco plants were elucidated by isolation of genomic DNA and genomic southern hybridization using ${\alpha}-^{32}P$ labelled PH05 fragments. The PH05 in transformed tobacco plants was expressed in leaf, stem and root, and its APase activity was estimated as deep red color by Tohe method.

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The Effect of S. thermophilus Isolated from Saliva Treated with Phytoncide on P. gingivalis (피톤치드 처리 후 구강 내 잔존 S. thermophilus의 P. gingivalis에 대한 효과)

  • Jung, Sung-Hee;Auh, Q-Schick;Chun, Yang-Hyun;Hong, Jung-Pyo
    • Journal of Oral Medicine and Pain
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    • v.34 no.1
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    • pp.23-37
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    • 2009
  • The antibacterial effect of phytoncide on Porphyromonas gingivalis, which is the main causative agent of periodontal disease and halitosis, has been reported. However, little is known about its effect on normal oral microflora. The present study was performed to observe the effect of phytoncide on oral normal microflora and the inhibitory effect of surviving resident oral bacteria on P. gingivalis. In this study, saliva from each of 20 healthy subjects was treated with 1% phytoncide from Japanese Hinoki (Chamaecyparis obtusa Sieb. et Zucc.). Surviving salivary bacteria were isolated on blood agar plates and identified by 16S rDNA sequencing. In order to select inhibitory isolates against P. gingivalis, the isolates from the phytoncide-treated saliva were cultured with P. gingivalis. The results were as follows: 1. In general, the number of bacteria in saliva from periodontally healthy subjects was decreased when the saliva was treated with 1% phytoncide. 2. The majority of the salivary bacteria surviving the treatment of phytoncide were S. thermophilus (53%). 3. Most of the surviving salivary bacteria (72.5%) inhibit the growth of P. gingivalis A7A1-28 and P. gingivalis W83 on blood agar plates. 4. Among the surviving S. thermophilus, 85.8% of them were observed to inhibit P. gingivalis strains and 75.8% of the surviving S. sanguinis were inhibitory. Taken together, oral resident bacteria surviving phytoncide, which has been shown to inhibit P. gingivalis, may exert an additional inhibitory activity against the periodontopathic bacterium. Therefore, phytoncide can be used for preventing and ceasing the progress of periodontal disease and halitosis, and thus is expect to promote oral health.

Evaluation of Temporomandibular Disorders with Tension-Type Headache by Age (연령에 따른 측두하악장애 환자의 긴장성 두통 양상)

  • Muhn, Kyung-Hwan;Chun, Yang-Hyun;Hong, Jung-Pyo;Auh, Q-Schick
    • Journal of Oral Medicine and Pain
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    • v.34 no.1
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    • pp.103-114
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    • 2009
  • This study was designed to evaluate the Temporomandibular Disorders(TMD) with Tension-Type Headache(TTH) by age. Patients with TMD and/or TTH visited the Department of Oral Medicine, Kyung Hee University Dental Hospital were recruited to this study. Experimental group(n=170) is composed of TMD with TTH and control group(n=222) is composed of TMD without TTH. Evaluation list was pain quality, pain intensity, pain laterality, pain increase by routine physical activity and then it was analyzed statistically. The results were as follows ; 1. In the control group, pain quality was not significantly different by age. But, in the experimental group, pain quality was significantly different by age(p=0.042). 2. In the control group, pain intensity was significantly different by age(p=0.000). And, in the experimental group, pain intensity was significantly different by age(p=0.004). 3. In the control group, pain laterality was not significantly different by age. And, in the experimental group, pain laterality was not significantly different by age. 4. In the control group, pain increase by routine physical activity was not significantly different by age. And, in the experimental group, pain increase by routine physical activity was not significantly different by age. Therefore, it is considered that not temporomandibular disorder patients without tension-type headache but temporomandibular disorder patients with tension-type headache was influenced by age in the pain quality.

Studies on the Electrochemical Properties of $TiO_{2-x}$ Thin Films ($TiO_{2-x}$ 박막의 전기화학적 성질에 관한 연구)

  • Q Won Choi;Chu Hyun Choe;Ki Hyung Chjo;Yong Kook Choi
    • Journal of the Korean Chemical Society
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    • v.30 no.1
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    • pp.19-26
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    • 1986
  • A titanium oxide thin films were prepared by air oxidation and vapour oxidation and a $TiO_2$ single crystal was reduced by heating in an argon atmosphere. All the electrode characteristics of the Ti$O_{2-x}$, thin films are not different from those of slightly reduced single crystal rutile. In cyclic voltammogram of oxygen containing electrolyte solution at Ti$O_{2-x}$ electrodes, cathodic peaks were observed at between -0.8V and -1.0V vs. SCE. The cathodic current near 0V vs. SCE in saturated solution with nitrogen was observed to be greater than in saturated solution with air. The chronoamperogram was represented by the equation of i = $i_0e^{-kt}$, when the rate constant k was represented by the equation of k =$k_0{[H^+]}^nexp(A{\eta}+E_a/RT)$ The values of activation energy $E_a $were found to be 4.6~4.8kcal/mole in overpotential range of 0.035∼0.145 V and 1.6kcal/mole in overpotential range of 0.2∼0.5V. The values of n and A were found to be 0. 1 and 5.4~5.6/V in range of 0.035~0.145V, and in range of 0.2~0.5V, to be 0.04 and 1.3/V, respectively. This can be interpreted as an totally irreversible reduction of oxygen.

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