• Title/Summary/Keyword: beta-function

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VHL Gene Mutation Analysis of a Chinese Family with Non-Syndromic Pheochromocytomas and Patients with Apparently Sporadic Pheochromocytoma

  • Zhang, Bin;Qian, Jing;Chang, De-Hui;Wang, Yang-Min;Zhou, Da-Hai;Qiao, Gou-Mei
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.5
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    • pp.1977-1980
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    • 2015
  • Objective: The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed. Materials and Methods: DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe. Results: Three novel mutations (H125P, 623(^TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding ${\beta}$-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(^TTTGTtG) carriers presented VHL type 2B or type 2C. Conclusions: VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(^TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research intoVHLD pathogenesis.

General Characteristics of Taurine: A Review (타우린의 일반적 특성에 관한 선행연구 고찰)

  • Yoon, Jin A;Choi, Kyung-Soon;Shin, Kyung-Ok
    • The Korean Journal of Food And Nutrition
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    • v.28 no.3
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    • pp.404-414
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    • 2015
  • Taurine is one of the most abundant free ${\beta}$-amino acids in the human body that accounts for 0.1% of the human body weight. It has a sulfonic acid group in place of the more common carboxylic acid group. Mollusks and meat are the major dietary source of taurine, and mother's milks also include high levels of this amino acid. The leukocytes, heart, muscle, retina, kidney, bone, and brain contain more taurine than other organs. Furthermore, taurine can be synthesized in the brain and liver from cysteine. There are no side effects of excessive taurine intake in humans; however, in case of taurine deficiency, retinal abnormalities, reduced plasma taurine concentration, and other abnormalities may occur. Taurine enters the cell via a cell membrane receptor. It is excreted in the urine (approximately 95%) and feces (approximately 5%). Taurine has a number of features and functions, including conjugation with bile acid, reduction of blood cholesterol and triglyceride levels, promotion of neuron cell differentiation and growth, antioxidant effects, maintenance of cell membrane stability, retinal development, energy generation, depressant effects, regulation of calcium level, muscle contraction and relaxation, bone formation, anti-inflammatory effects, anti-cancer and anti-atherogenic effects, and osmotic pressure control. However, the properties, functions, and effects of taurine require further studies in future.

A patient with stress induced cardiomyopathy that occurred after cessation of hormone replacement therapy for panhypopituitarism (범뇌하수체저하증의 호르몬 대체요법 중단 후 발생한 스트레스 심근병증)

  • Nam, Seoung Wan;Lee, Jun-Won;Sim, Jeong Han;Pack, Hyun Sung;Im, Changjo;Lim, Jung Soo;Ahn, Sung Gyun
    • Journal of Yeungnam Medical Science
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    • v.33 no.2
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    • pp.125-129
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    • 2016
  • Stress induced cardiomyopathy (SC) is characterized by transient left ventricular (LV) dysfunction in the absence of coronary artery disease. We report on a patient with panhypopituitarism who developed SC resulting from withdrawal of hormonal replacement therapy (HRT). A 52-year-old male visited our hospital for progressively worsening dyspnea. The patient had discontinued HRT 7 days ago, which had been administered for 18 months after transsphenoidal adenomectomy for pituitary macroadenoma. Initial electrocardiogram showed marked sinus bradycardia. Transthoracic echocardiography showed apical ballooning with an LV ejection fraction of 25%. No significant obstructive lesions were observed on coronary angiography. With a clinical diagnosis of SC associated with panhypopituitarism, HRT was restarted, including glucocorticoid and thyroxine, along with standard heart failure management. His LV function had normalized at 2-month follow-up. He remains asymptomatic and administration of beta-blocker and angiotensin converting enzyme inhibitor were discontinued He currently only requires HRT.

Effects of ${\gamma}-Aminobutyric$ Acid on Pancreatic Amylase Secretion Evoked by Sodium Oleate in Anesthetized Rats

  • Park, Yong-Deuk;Cui, Zheng-Yun;Park, Hyung-Seo;Park, Hyoung-Jin
    • The Korean Journal of Physiology and Pharmacology
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    • v.6 no.1
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    • pp.27-31
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    • 2002
  • ${\gamma}-Aminobutyric$ Acid (GABA) is contained in pancreatic islet ${\beta}-cells$ although its physiological role in pancreatic exocrine function is completely unknown at the present time. Recently, we have reported that exogenous GABA enhances secretagogue-evoked exocrine secretion in the isolated, perfused rat pancreas. This study was aimed to investigate an effect of exogenous GABA on pancreatic exocrine secretion in vivo evoked by intestinal stimulation. Rats were anesthetized with urethane (1.4 g/kg) after 24-h fast with free access to water. GABA $(10,\;30\;and\;100\;{\mu}mol/kg/h),$ given intravenously, did not change spontaneous pancreatic amylase secretion but dose-dependently elevated the amylase secretion evoked by intraduodenal sodium oleate (0.05 mmol/h). GABA $(30\;{\mu}mol/kg/h)$ also further increased the amylase secretion stimulated by CCK (30 pmol/kg/h) plus secretin (20 pmol/kg/h) but failed to modify the amylase secretion induced by secretin alone. GABA $(10,\;30\;and\;100\;{\mu}mol/kg/h)$ also dose-dependently elevated pancreatic amylase secretion evoked by CCK alone. Bicuculline $(100\;{\mu}mol/kg/h),$ a $GABA_A-receptor$ antagonist, markedly reduced the GABA-enhanced pancreatic responses to sodium oleate, CCK plus secretin or CCK alone. The results indicate that GABA enhances the sodium oleate-evoked pancreatic amylase secretion via $GABA_A-receptor$ in anesthetized rats, which may account for elevating the action of CCK released by sodium oleate.

General Pharmacology of DA-125, A New Anthracycline Anticancer Agent (새로운 Anthracycline계 항암제 DA-125의 일반약리작용)

  • Kim, Myung-Suk;Park, Jong-Wan;Kim, Young-Hoon;Kim, Soon-Hoe;Shin, Myeong-Soo;Kim, Won-Bae;Yang, Junn-Ick
    • The Korean Journal of Pharmacology
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    • v.30 no.2
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    • pp.227-242
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    • 1994
  • The general pharmacological effects of a new anthracycline anticancer agent, DA-125 $[7-0-(2,\;6-dideoxy-2-fluoro-{\alpha}-L-talopyranosyl)-adriamycinone-14-{\beta}-alaninate{\cdot}HCI]$ were investigated in mice, rats, guinea pigs, rabbits and dogs. Intravenous administration of DA-125 presented no significant effects on the central and peripheral nervous systems of ICR mice except a decrease in the numbers of acetic acid-induced writhing response at a dose of 10 mg/kg. In anesthetized rats and dogs, DA-125 produced a transient depression of blood pressure and an increase in heart rate, but did not affect the peripheral blood flow in the isolated ear vessels of rabbits and the mechanical functions of the isolated hearts of guinea pigs. No significant effects were observed on the gastrointestinal functions and the contractilities of smooth muscle preparations obtained from guinea pig trachea, rabbit ileum, pregnant and non-pregnant uterus and vas deferens of rats. DA-125 Increased the contractility of the isolated ileum of guinea pigs in a dose range of $10^{-6}{\sim}10^{-9}g/ml$, and also increased, but weaker than adriamycin, the vascular permeability in rat skin. DA-125 had no effect on the kallikrein-induced increase in permeability and the permeability of the visceral organs. DA-125 did not adversely affect the liver function and the blood coagulation system, and did not induce hemolysis in vitro. It is concluded from the results that the general pharmachological effects of DA-125 are similar to or weaker than those of adriamycin, and that little adverse effects are anticipated with a therapeutic dose range.

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Overexpression of Gene Encoding Tonoplast Intrinsic Aquaporin Promotes Urea Transport in Arabidopsis

  • Kim, Sun-Hee;Kim, Kang-Il;Ju, Hyun-Woo;Lee, Ho-Joung;Hong, Suk-Whan
    • Journal of Applied Biological Chemistry
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    • v.51 no.3
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    • pp.102-110
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    • 2008
  • Complementation assay of the urea uptake-defective yeast mutants led to the identification of the Arabidopsis AtTIP4;1 gene encoding the aquaporin. However, its physiological functions still remain elusive. In the present study, histochemical and genetic analyses were performed to understand the physiological roles of AtTIP4;1 in urea uptake. The AtTIP4;1 product was detectible in the roots, but not in the leaves, the stem, and the flower. Its promoter allowed the expression of the $\beta$-glucuronidase reporter gene in the roots and the apical meristem in Arabidopsis. The AtTIP4;1 products were induced under nitrogen-deficient conditions. To investigate the role of the tonoplast intrinsic protein in urea transport and developments, Arabidopsis with the loss- and the gain-of-function mutations by T-DNA insertion in AtTIP4;1 and 35S promoter-mediated overexpression of AtTIP4;1 were identified, respectively. The transfer DNA insertion and the AtTIP4;1-overexpressed plants showed normal growth and development under normal or abiotic stress growth conditions. The urea-uptake studies using $^{14}C$-labeled urea revealed higher accumulation of urea in the AtTIP4;1-overexpressed plants. These results provide evidence that overexpression of AtTIP4;1 leads to the increase in the urea-uptake rate in plants without detectable defects to the growth and development.

An Analysis of Carbon-14 Metabolism for Internal Dosimetry at CANDU Nuclear Power Plants (중수로 원전 종사자의 방사선량 평가를 위한 $^{14}C$ 인체대사모델 분석)

  • Kim, Hee-Geun;Lee, Hyung-Seok;Ha, Gak-Hyun
    • Journal of Radiation Protection and Research
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    • v.28 no.3
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    • pp.207-213
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    • 2003
  • Carbon-14 is one of the major radionuclides released by CANDU Nuclear Power Plants(NPPs). It is almost always emitted as gas through the stack. From CANDU NPPs about 95% of all carbon-14 is released as carbon dioxide. Carbon-14 is a low energy beta emitter which, therefore, gives only a small skin dose from external radiation. As carbon dioxide Is physiologically rather inert gases for man's metabolism, the inhalation dose is probably less than 1 % of the ingestion dose. But this source of carbon-14, formed in a closed, nor-oxidative environment, was subsequently released into the workplace as an insoluble particulate when these systems were opened lip for re-tubing at CANDU NPPs. As a part of the improvement of dosimetry program at Wolsong Nuclear Power Plants, the carbon-14 metabolism based on references was investigated and studied to setup the internal dosimetry program due to inhalation of carbon-14.

Safety and Effectiveness of Indacaterol in Chronic Obstructive Pulmonary Disease Patients in South Korea

  • Yum, Ho-Kee;Kim, Hak-Ryul;Chang, Yoon Soo;Shin, Kyeong-Cheol;Kim, Song;Oh, Yeon-Mok
    • Tuberculosis and Respiratory Diseases
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    • v.80 no.1
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    • pp.52-59
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    • 2017
  • Background: Inhaled indacaterol (Onbrez Breezhaler), a long-acting ${\beta}_2$-agonist, is approved in over 100 countries, including South Korea, as a once-daily bronchodilator for maintenance and treatment of chronic obstructive pulmonary disease (COPD). Here, we present an interim analysis of a post-marketing surveillance study conducted to evaluate the real-world safety and effectiveness of indacaterol in the Korean population. Methods: This was an open-label, observational, prospective study in which COPD patients, who were newly prescribed with indacaterol (150 or $300{\mu}g$), were evaluated for 12 or 24 weeks. Safety was assessed based on the incidence rates of adverse events (AEs) and serious adverse events (SAEs). Effectiveness was evaluated based on physician's assessment by considering changes in symptoms and lung function, if the values of forced expiratory volume in 1 second were available. Results: Safety data were analyzed in 1,016 patients of the 1,043 enrolled COPD patients receiving indacaterol, and 784 patients were included for the effectiveness analysis. AEs were reported in 228 (22.44%) patients, while 98 (9.65%) patients reported SAEs. The COPD condition improved in 348 patients (44.4%), while the condition was maintained in 396 patients (50.5%), and only 40 patients (5.1%) exhibited worsening of ailment as compared with baseline. During the treatment period, 90 patients were hospitalized while nine patients died. All deaths were assessed to be not related to the study drug by the investigator. Conclusion: In real-life clinical practice in South Korea, indacaterol was well tolerated in COPD patients, and can be regarded as an effective option for their maintenance treatment.

Involvement of Estrogen Receptor-α in the Activation of Nrf2-Antioxidative Signaling Pathways by Silibinin in Pancreatic β-Cells

  • Chu, Chun;Gao, Xiang;Li, Xiang;Zhang, Xiaoying;Ma, Ruixin;Jia, Ying;Li, Dahong;Wang, Dongkai;Xu, Fanxing
    • Biomolecules & Therapeutics
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    • v.28 no.2
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    • pp.163-171
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    • 2020
  • Silibinin exhibits antidiabetic potential by preserving the mass and function of pancreatic β-cells through up-regulation of estrogen receptor-α (ERα) expression. However, the underlying protective mechanism of silibinin in pancreatic β-cells is still unclear. In the current study, we sought to determine whether ERα acts as the target of silibinin for the modulation of antioxidative response in pancreatic β-cells under high glucose and high fat conditions. Our in vivo study revealed that a 4-week oral administration of silibinin (100 mg/kg/day) decreased fasting blood glucose with a concurrent increase in levels of serum insulin in high-fat diet/streptozotocin-induced type 2 diabetic rats. Moreover, expression of ERα, NF-E2-related factor 2 (Nrf2), and heme oxygenase-1 (HO-1) in pancreatic β-cells in pancreatic islets was increased by silibinin treatment. Accordingly, silibinin (10 μM) elevated viability, insulin biosynthesis, and insulin secretion of high glucose/palmitate-treated INS-1 cells accompanied by increased expression of ERα, Nrf2, and HO-1 as well as decreased reactive oxygen species production in vitro. Treatment using an ERα antagonist (MPP) in INS-1 cells or silencing ERα expression in INS-1 and NIT-1 cells with siRNA abolished the protective effects of silibinin. Our study suggests that silibinin activates the Nrf2-antioxidative pathways in pancreatic β-cells through regulation of ERα expression.

A novel WD40 protein, BnSWD1, is involved in salt stress in Brassica napus

  • Lee, Sang-Hun;Lee, Jun-Hee;Paek, Kyung-Hee;Kwon, Suk-Yoon;Cho, Hye-Sun;Kim, Shin-Je;Park, Jeong-Mee
    • Plant Biotechnology Reports
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    • v.4 no.2
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    • pp.165-172
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    • 2010
  • Genes that are expressed early in specific response to high salinity conditions were isolated from rapeseed plant (Brassica napus L.) using an mRNA differential display method. Five PCR fragments (DD1.5) were isolated that were induced by, but showed different response kinetics to, 200 mM NaCl. Nucleotide sequence analysis and homology search revealed that the deduced amino sequences of three of the five cDNA fragments showed considerable similarity to those of ${\beta}$-mannosidase (DD1), tomato Pti-6 proteins (DD5), and the tobacco harpin-induced protein hin1 (DD4), respectively. In contrast, the remaining clones, DD3 and DD2, did not correspond to any substantial existing annotation. Using the DD3 fragment as a probe, we isolated a full-length cDNA clone from the cDNA library, which we termed BnSWD1 (Brassica napus salt responsive WD40 1). The predicted amino-acid sequence of BnSWD1 contains eight WD40 repeats and is conserved in all eukaryotes. Notably, the BnSWD1 gene is expressed at high levels under salt-stress conditions. Furthermore, we found that BnSWD1 was upregulated after treatment with abscisic acid, salicylic acid, and methyl jasmonate. Our study suggests that BnSWD1, which is a novel WD40 repeat-containing protein, has a function in salt-stress responses in plants, possibly via abscisic acid-dependent and/or -independent signaling pathways.