• Journal of Genetic Medicine
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• v.19 no.1
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• Asian-Australasian Journal of Animal Sciences
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• v.22 no.3
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• pp.371-377
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• 2009

The objectives of the present study were to investigate the effects of different dietary ratios of whole-crop corn silage and alfalfa hay on nitrogen (N) digestion, duodenal flow and metabolism across the portal-drained viscera (PDV) of growing beef steers, and to elucidate their relationships. Four steers (236${\pm}$7 kg BW) fitted with duodenal cannulae and chronic indwelling catheters into the portal and mesenteric veins and abdominal aorta were used in a 4${\times}$4 Latin square design. Animals were fed (at 12-h intervals) the 4 diets consisting of whole-crop corn silage (C) and alfalfa hay (A) in 80:20 (C8A2), 60:40 (C6A4), 40:60 (C4A6) and 20:80 (C2A8) ratios of which dietary crude protein (CP) was 10.5, 12.0, 13.5 and 15.0% of dry matter (DM), respectively. Feeding level was restricted to 95% of ad libitum intake to measure N digestion, blood flow and net flux of N across the PDV. Digestibility of DM and neutral detergent fiber and digestible energy intake linearly increased as the ratio of alfalfa hay increased. The N intake, duodenal flow and intestinal disappearance increased linearly with increasing alfalfa hay. Arterial and portal concentrations of ${\alpha}$-amino N showed a quadratic response to increasing levels of alfalfa hay and were the highest in steers fed the C6A4 diet. The net PDV release of ${\alpha}$-amino N and ammonia N increased linearly with increasing alfalfa hay, but urea N uptake by PDV did not differ among diets. As a percentage of apparently digested N in the total gut, net PDV release of ${\alpha}$-amino N linearly decreased from 66 to 48% with increasing alfalfa hay. Conversely, net PDV recovery of ${\alpha}$-amino N to intestinal N disappearance varied with increasing alfalfa hay accounting for 49, 50, 58 and 61% on C8A2, C6A4, C4A6 and C2A8 diets, respectively. Net PDV uptake of urea N, relative to apparently digested N, linearly decreased from 81 to 25% as alfalfa hay increased from 20 to 80% of DM intake. Considering PDV uptake of urea N, microbial efficiency and conversion of total tract digested N to PDV ${\alpha}$-amino N net supply, a diet consisting of 80% whole-crop corn silage and 20% alfalfa hay (10.5% CP) was the best, while considering the quantities of intestinal N disappearance and ${\alpha}$-amino N absorption, a diet of 20% whole-crop corn silage and 80% alfalfa hay (15% CP) would be preferred. The proportion of ${\alpha}$-amino N recovered by PDV relative to the intestinal N disappearance may vary with energy intake level of mixed forage diets.

• The Korean Journal of Nuclear Medicine Technology
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• v.12 no.1
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• pp.82-87
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• 2008

Purpose: The Bio-energy metabolism control hormone by Adipocytokine is composed with Leptin, Adiponectin, resistin, TNF-a, IL-6. Adiponectin become known to participating in Insulin sensitivity exasperation, Fat metabolism accomodation and inducing metabolic disease such as diabetes mellitus, arteriosclerosis, hyperlipemia. When we accomplished the test with purpose of Research, we observed significance with a result of test related to diabetes mellitus with reference setting by way of suggestion. Methods: Result of normal group (n=100) which is committed in the SCL from September 2006 to December 2006 and result of control group (n=50) relationship examination item that is decided diabetes measures themselves against each other. Also, we measured the normal group against the control group for the reference range of adiponectin. Results: Result in normal group (n=100) appeared by Glucose (reference 70~120 mg/dl) Mean and the SD 96.99 (${\pm}24.35$), HbA1c (reference 4.0~6.0%) Mean and the SD 5.64 (${\pm}0.90$), Insulin (reference 2.0~25.0 uIU/ml) Mean and the SD 7.80 (${\pm}4.42$), the Adiponectin the Mean and the SD 9,861.23 (${\pm}4,977.0$). Result in control group(n=50) appeared by Glucose (reference 70-120 mg/dl) Mean and the SD 224.95 (5.30), the HbA1c (reference 4.0~6.0%) Mean and the SD 8.22 (1.63), Insulin (reference 2.0~25.0 uIU/ml) Mean and the SD 17.02 (3.01), C-peptide (reference 0.48~3.30 ng/ml) Mean and the SD 7.92 (${\pm}7.40$), the Adiponectin Mean and the SD 18,110.03 (${\pm}12,843.29$). Conclusions: Therefore, it seems that test results are significant and we consider that it can be apply to useful diagnosis of diabetes mellitus, arteriosclerosis, hyperlipemia patients throughout the reference range setting of Adiponectin, Leptin is one of the Bio-energy metabolism control hormone.

• Journal of Microbiology and Biotechnology
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• v.25 no.5
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• pp.672-680
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• 2015

As a global regulatory gene in Streptomyces, afsR can activate the biosynthesis of many secondary metabolites. The effect of afsR on the biosynthesis of a phenazine metabolite, lomofungin, was studied in Streptomyces lomondensis S015. There was a 2.5-fold increase of lomofungin production in the afsR-overexpressing strain of S. lomondensis S015 N1 compared with the wild-type strain. Meanwhile, the transcription levels of afsR and two important genes involved in the biosynthesis of lomofungin (i.e., phzC and phzE) were significantly upregulated in S. lomondensis S015 N1. The optimization of metal chlorides was investigated to further increase the production of lomofungin in the afsR-overexpressing strain. The addition of different metal chlorides to S. lomondensis S015 N1 cultivations showed that CaCl₂, FeCl₂, and MnCl₂ led to an increase in lomofungin biosynthesis. The optimum concentrations of these metal chlorides were obtained using response surface methodology. CaCl₂ (0.04 mM), FeCl₂ (0.33 mM), and MnCl₂ (0.38 mM) gave a maximum lomofungin production titer of 318.0 ± 10.7 mg/l, which was a 4.1-fold increase compared with that of S. lomondensis S015 N1 without the addition of a metal chloride. This work demonstrates that the biosynthesis of phenazine metabolites can be induced by afsR. The results also indicate that metal chlorides addition might be a simple and useful strategy for improving the production of other phenazine metabolites in Streptomyces.

• Applied Biological Chemistry
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• v.51 no.1
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• pp.65-69
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• 2008

The roots of Brassica campestris ssp rapa were extracted with 80% aqueous MeOH, and the concentrated extract was partitioned with EtOAc, n-BuOH and $H_2O$. From the EtOAc fraction, three compounds were isolated through the repeated silica gel and octadecyl silica gel (ODS) column chromatography. From the results of spectroscopic data including NMR and MS, the chemical structures of the compounds were determined as caulilexin C (1), indoleacetonitrile (2) and arvelexin (3). The arvelexin (3) has been isolated from this plant for the first time. Compounds 1, 2 and 3 showed inhibitory activity on human Acyl CoA: cholesterol. transferase 1 (hACAT1) by $54.6{\pm}6.0%$, $69.2{\pm}4.7%$ and $68.6{\pm}3.7%$, and on human Acyl CoA: cholesterol transferase 2(hACAT2) by $4.8{\pm}13.4%$, $45.6{\pm}4.8%$ and $39.5{\pm}4.3%$, respectively, at 100 ${\mu}g/ml$.

• Asian-Australasian Journal of Animal Sciences
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• v.7 no.2
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• pp.223-229
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• 1994

The metabolic fate of methionine in rumen bacteria was studied by intraruminal administration of $^{15}N$ and $1-^{13}C$ labeled methionine in goats. Time course changes in isotopic abundance of amino acids in the rumen bacteria were determined with a computer-controlled gas-chromatograph mass spectrometer. The results from the transition of peak isotopic abundance in amino acids indicated that in rumen bacteria the $^{15}N$ or $^{13}C$ isotope in the methionine molecule was transferred rapidly to into bacteria, methionine administered intraruminally may not be retained as it is, but would be converted quickly to other metabolites in the bacteria.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.46 no.4
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• pp.272-278
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• 2001

To investigate of C and N metabolisms in response to phosphorus-deficient stress during regrowth of Italian ryegrass (Lolium multiflorum L.), C and N metabolites were analyzed at 0, 6, 12 and 24 days after defoliation. P-sufficient (control, +P) and P-absent (-P) nutrient solutions were applied from 7 days before defoliation, and continued for one cycle of 24 day-regrowth period. During 24 days of regrowth, dry matter of regrowing shoots and remaining tissues were not significantly different between +P and -P treatment. In remaining stubble, 70% to 91 % decline of the initial level (at day 0) in all C compounds occurred during the first 6 days of regrowth. Initial amounts of nitrate and amino acids in roots were significantly higher in the +P medium. Nitrate contents in stubble in the +P medium significantly decreased for the first 12 days and then rapidly recovered, while that of the -P medium continuously decreased until day 24. Amino acids in stubble in the P medium were continuously increased during the whole regrowth period. Soluble proteins in stubble in the +P medium also largely fell down (46.0% of the initial) for only the first 6 days, however the decline in the -P medium continued until day 12. In regrowing shoots, the accumulation of C compounds was significantly higher, while that of N compounds except amino acids was largely lower in the -P medium. These results showed a stimulation of carbohydrate synthesis and a compensatory utilization of organic reserves occurred to support regrowth under P-deficient condition.

• Korean Journal of Weed Science
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• v.4 no.2
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• pp.115-124
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• 1984

Chlorsulfuron (chemical name : 2-Chloro-N-(4-methoxy-6-methyl-1,3,5-triazin-2-yl)-aminocarbonyl-benzenesulfonamide) is a herbicidally active ingredient which shows effect against susceptible weeds already at such low rates like 5-20g active ingredient per hectare. In the here reported trials metabolism in several sensitive cultivated plants and weeds have been analysed using ^{14}C-labelled active ingredient. The uptake of chlorsulfuron by leaves or the root system is good in all plants species, and translocation takes place either symplasmatically or apoplasmatically. Metabolism takes place in all investigated plant species by development of hydrophile suhstances in roots and shoots. Decomposition of chlorsulfuron in roots and shoots of tolerant species (Triticum aestivum and Hordeum vulgare) to polare substances takes place quantitatively faster and quicker than in susceptible species (Beta vulgaris and Matricaria chamomilla).

• Food Science and Biotechnology
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• v.18 no.1
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• pp.223-227
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• 2009

The fruits of Cornus kousa Burg. were extracted with 80% aqueous methanol (MeOH) and the concentrated extract was partitioned with ethyl acetate (EtOAc), n-butanol (n-BuOH), and $H_2O$. From the EtOAc traction, 5 triterpenoids were isolated through repeated silica gel ($SiO_2$), octadecyl silica gel (ODS), and Sephadex LH-20 column chromatography (c.c.). These compounds were determined to be ursolic acid (1), corosolic acid (2), taraxasterol (3), betulinic acid (4), and betulinic aldehyde (5) on the basis of their spectroscopic data including electronic ionization mass spectrometry, ultraviolet spectroscopy, infrared spectroscopy, and nuclear magnetic resonance. This is the first reported isolation of these compounds from this plant. Also, compounds 1, 3, 4, and 5 show a relatively high inhibitory activity against human acyl-CoA: cholesterol acyltransferase-1 (hACAT-1) with inhibition values of $52.8{\pm}0.7$, $91.1{\pm}0.4$, $93.0{\pm}0.7$, and $96.2{\pm}0.2%$ at a concentration of $100{\mu}M$, respectively.

• Korean Journal of Plant Tissue Culture
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• v.27 no.5
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• pp.145-145
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• 2000