• Title/Summary/Keyword: Genetic Factors

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Association of Leptin Receptor Lys109Arg and Gln223Arg Polymorphisms with Increased Risk of Clear Cell Renal Cell Carcinoma

  • Mu, Hui-Jun;Zou, Jian;Xie, Ping;Xu, Zhuo-Qun;Ruan, Jun;Yang, Shu-Dong;Yin, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.10
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    • pp.4211-4215
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    • 2014
  • Background: Although roles of genetic polymorphisms of leptin receptor (LEPR) gene in several cancers have been documented, the association between polymorphisms of LEPR and clear cell renal cell carcinoma (CC-RCC) remains unknown. The aim of this study was to explore any relation. Materials and Methods: The study population consisted of 77 patients with CC-RCC and 161 healthy control subjects. Polymorphism analyses of Lys109Arg and Gln223Arg were performed by direct DNA sequencing and PCR-restriction fragment length polymorphism approaches respectively. Results: Comparisons of allelic and genotypic frequencies in Lys109Arg and Gln223Arg showed no significant difference between the cases and controls. However, when evaluating the combined genotype of Lys109Arg and Gln223Arg, risk with GG/GG was increased (OR=1.85, 95%CI=1.04-3.30) and with GA/GG or GG/GA was decreased (OR=0.07, 95%CI=0.01-0.54; OR and 95%CI of the latter could not be calculated for a value of zero). Furthermore, the G-G haplotype frequency of Lys109Arg and Gln223Arg in the cases was higher (OR=1.68; 95%CI=1.02-2.76). In contrast, the A-G and G-A haplotype frequencies in the cases were lower than those in the controls (OR=0.06; 95%CI=0.01 to 0.47; OR and 95%CI of the latter could not be calculated for a value of zero). In addition, the Lys109Arg A allele was in LD with the Gln223Arg A allele (d'=0.9399) in the CC-RCC subjects, but not in the controls. Conclusions: Our data suggest that the GG/GG combined genotype and G-G haplotype of Lys109Arg and Gln223Arg can act as evaluating factors for CC-RCC risk.

Effects of TGF-$\beta$3 on Epithelial-mesenchymal transformation and Epidermal growth factor receptor expression in palatogenesis of chicken embryo (계태아 발생시 TGF-$\beta$3가 구개판 내측돌기상피의 상피간엽변환 및 상피성장인자수용체 발현에 미치는 영향)

  • Yang Byoung-Eun;Lee Jong-Ho
    • Korean Journal of Cleft Lip And Palate
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    • v.4 no.1
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    • pp.13-26
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    • 2001
  • Cleft lip and/or palate is the congenital orofacial malformation most commonly occurred in humans, The disease is multifactorial and is probably caused by genetic and/or environmental factors, So, there are many problems in research concerning etiology and in treatment of the disease, Even the most practiced and sophisticated methods of surgical repair are necessarily followed by scar contraction and fibrosis, which result in skeletal defects, dental abnormalities, cosmetic disfigurement, and speech impairment, As a result, Fetal surgery can be considered but practiced rarely when the deformity is not fatal to life, And treatment of cleft palate is performed in the form of medicine projection into uterus in animal experiments, Many studies show that growth factor and its receptor emerge from the developing palate; and the epidermal growth factor receptors have a important role in craniofacial development and in palatal fusion, The palatal morphogenesis of the avine is different from the mammal's; it takes the form of physiologic cleft palate, Recently, cleft palate fusion experiment was performed when the avine were in the period of palate formation through the exogenous TGF-β3 addition, and it showed that the exogenous TGF-β3 makes fusion of divided palate through certain process when cleft palate is occurred in palatal formation, In this study, I had the conformation of the fusion of cleft palate through the addition of TGF-β in case of chicken embryo, and observed the effect of TGF-β in EGF receptor distribution, And the following is the results of this study, 1. In case of the TGF-βl and β3 addition group, there was the decrease of EGFR(Epidermal Growth Factor Receptor) immunoreactivity in mesenchymal cells beneath the medial edge epithelium and also in epithelial mesenchymal interface which is between medial edge epithelium and nasal septum in 72 hours, 2, The immunoreactivity of the control group resembles that of normal chicken embryo palate in development, 3. In the view through fluorescence confocal microscopy, there was confluence in TGF-β3 addition group, This shows that the confluence induced by exogenous TGF-β3 is related to EGFR expression in palate of chicken embryo, which is a physiologic cleft palate model.

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THE ERUPTION GUIDANCE OF AN IMPACTED TOOTH ASSOCIATED WITH A COMPLEX ODONTOMA : CASE REPORT (복잡 치아종으로 인한 매복치아의 교정적 견인)

  • Pack, Jung-Ah;Yang, Kyu-Ho;Choi, Nam-Ki;Kim, Seon-Mi
    • Journal of the korean academy of Pediatric Dentistry
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    • v.34 no.4
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    • pp.651-657
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    • 2007
  • Odontomas are the common type of odontogenic tumors and generally are asymptomatic and frequently lead to impaction or delayed eruption of permanent teeth. They are composed of enamel, dentin, cementum and pulp tissue and are divided into compound and complex according to the morphology of the hard tissues. Compound odontomas consist of varying numbers of small toothlike structure and have a predilection for the maxillary anterior regions. Complex odontomas consist of an unorganized mass of odontogenic tissues and comprise approximately 25 percent of all odontomas and have a predilection for the mandibular posterior regions. The etiology of odontomas is uncertain but hypothesized to involve local trauma, infection and genetic factors. Treatment of odontoma is conservative surgical removal and are little probability of recurrence. These two cases were about the patients with delayed eruption of mandibular first molar and mandibular lateral incisor. We surgically removed odontoma, exposed impacted tooth and guided impacted tooth into normal position by orthodontic traction. At the completion of traction, the mandibular first molar and mandibular lateral incisor was positioned fairly within the arch and complications such as root resorption were not observed.

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Effects of Extracts of Natural Products on Alkaline Phosphatase Activity of MC3T3 - E1 Cells (수종의 생약추출물이 MC3T3-E1 세포의 염기성 인산분해 효소 활성에 미치는 영향)

  • Park, Sang-Kee;Kim, Dae-Kyum;You, Seung-Han;Kim, Hyun-A;Kim, Myoung-Dong;You, Hyung-Keun;Shin, Hyung-Shik
    • Journal of Periodontal and Implant Science
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    • v.31 no.1
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    • pp.123-135
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    • 2001
  • Several growth factors and polypeptides were studied for the regeneration of periodontal supporting tissues which had been lost due to periodontal disease. But these are not commonly used for regenerators of bone tissue or alveolar bone, because of the insufficiency of studies on their side effects, genetic engineering for mass production and stability for clinical application. Recently, many natural products, which have advantage of less side effects and possibility of long-term use, have been studied for their capacity and effects of anti-bacterial, anti-inflammatory and regenerative potential or periodontal tissues. Cnidii Rhizoma, Rhinocerotis Cornu and Drynariae Rhizoma have been traditionally used as a drug for treatment of bone disease in oriental medicine. The purpose of this study was to examine the ability of alkaline phosphatase synthesis of MC3T3-E1 cells when above medicines were supplimented. MC3T3-E1 cells were cultured with ${\alpha}-MEM(negative control)$, dexamethasone(positive control), and each natural products for 3 and 5 days. And then ALP synthesis was measured by spectrophotometer for enzyme activity and by naphthol AS-BI staining for morphometry. Except Cnidii Rhizoma, all of the natural products of this study induced higher activity of ALP synthesis than controls. Among them Drynariae Rhizoma induced the highest activity. In the aspects of culturing time, all medicines did not showed the difference between 3 and 5 days, but $10^{-7}g/ml$ group of Rhinocerotis Corun showed significant increase at 3 days than at 5 days. These results indicate that several natural products have a inducing ability of ALP synthesis on osteoblasts.

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Molecular Characterization of Metallothionein Gene of the Korean Bitterling Acheilognathus signifer (Cyprinidae) (묵납자루 (Acheilognathus signifer; Cyprinidae) metallothionein 유전자의 클로닝 및 특징 분석)

  • Lee, Sang-Yoon;Bang, In-Chul;Nam, Yoon-Kwon
    • Korean Journal of Ichthyology
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    • v.23 no.1
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    • pp.10-20
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    • 2011
  • Genetic determinant for metallothionein (MT), a cysteine-rich protein playing essential roles in metal detoxification and homeostasis, was characterized in the Korean bitterling (Acheilognathus signifer, Cyprinidae), an endemic fish species. The full-length A. signifer MT (AsMT) cDNA (551 bp) is composed of a single open-reading frame (ORF) to encode a polypeptide of 60 amino acids containing 20 cysteine residues whose positions are conserved in most cypriniform MTs. At the genomic level, the AsMT (2,593 bp spanning the 5'-flanking region to the 3'-untranslated region) represented a conserved tripartite (three exons interrupted by two introns) structure with AT-rich introns. The upstream regulatory region (-1,914 bp from the ATG initiation codon) of AsMT displayed various sites and motifs for transcription factors involved in the metal-mediated regulation and stress/immune responses. The AsMT transcript was ubiquitously detected in various organs with variable expression levels, where the ovary and intestine showed the highest expression, while the heart and skeletal muscle represented the lowest level. During an exposure to copper (immersion in $0.5\;{\mu}M$ Cu for 48 h), the levels of AsMT transcripts were significantly elevated in the liver (more than 3.5-fold), moderately in the gill, kidney, and spleen (ranging from 1.5- to 2.5-fold), and barely in the brain and intestine. Results of this study could form a useful basis to explore the metal-related stress physiology of this endangered fish species.

Inheritance of Insecticide Resistance to Plant- and Leaf-hoppers Inherited Properties of MEP Resistance to Small Brown Plant-hopper (Laodelphax striatellus Fallen) (멸구 매미충류에 대한 약제저항성의 유전성에 관한 연구 I. 애멸구의 MEP제에 대한 약제저항성의 유전적 특성)

  • Shim Jai Wook
    • Korean journal of applied entomology
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    • v.17 no.2 s.35
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    • pp.75-80
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    • 1978
  • The study was conducted to determine the inherited properties of the MEB resistance to natural population of the small brown plant-hopper(Laodelphax striatelluss). The plant-hoppers were collected from the natural population of Naju area where the highest insecticide resistance of MEF to the green rice leaf hopper (Nephotettix cincticeps) have been examined in 1976. And Naju collections were crossed to the susceptible Lab stock to examine the MEP resistance in the $F_1,\;BC_1F_1\;and\;F_2$ and $F_2$ populations. Ail the data were analyzed by the probit method. There was a difference in MEP resistance between Naju collection and susceptible Lab stock, showing $LD_{50}$ value of the former was 0.0029ug/insect compared to 0.0008ug/insect for the later. The $LD_{50}$ values and dosage-mortality lines of the $F_1$ and $BC_1F_1$ tended to close their resistant parent. and it was considered that the character of the MEP resistance in the Naju collection of the small brown plant hopper was controlled by the genetic traits. However, $LD_{50}$ value and dosasage-mortality lines of the $F_2$ populations were intermediate to their parents, it would be conclusive that the trait will be governed by a interaction of the genes or factors rather than the single genic control.

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Polymorphisms of interleukin-1β promoter in simple febrile seizures (단순 열성 경련에서 interleukin-1β promoter 유전자의 다형성)

  • Yoon, Jang Won;Choen, Eun Jung;Lee, Young Hyuk
    • Clinical and Experimental Pediatrics
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    • v.51 no.9
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    • pp.1007-1011
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    • 2008
  • Purpose : Febrile seizure (FS) is the most common type of seizure. The role of genetic factors in FSs has long been recognized. A positive family history can be elicited in 25-40% of patients with FSs; nonetheless, the genes responsible for FSs in the majority of the population remain unknown. Interleukin-$1{\beta}$ ($IL-1{\beta}$) is a pro-inflammatory cytokine that acts as an endogenous pyrogen. Thus, $IL-1{\beta}$ could be involved in the pathophysiology of FSs. Methods : To determine whether or not single nucleotide polymorphisms of the $IL-1{\beta}$ gene are associated with susceptibility to simple FSs, $IL-1{\beta}$ promoter -31 and -511 genotyping was performed by means of polymerase chain reaction-restriction fragment (PCR-RF) length polymorphism in 40 FS patients (20 sporadic and 20 familial FS patients) and 33 controls. Results : There were no significant differences in the frequencies of -31 C/T and -511 C/T in the $IL-1{\beta}$ promoter gene, between simple FS patients and controls. Conclusion : The frequency of CT/CT increased relatively in familial FS patients. A study examining a larger number of FS patients is needed.

Molecular Genetic Characteristics of Methicillin-Resistant Staphylococcus aureus Isolated from University Campus Environment and Students

  • Park, Heechul;Park, Sung-Bae;Kim, Junseong;Jeon, Hyeonjeong;Choi, Sein;Lee, Seungyeon;Oh, Eunchong;Hwang, Soenghwi;Kim, Hyunjung;Kim, Jungho;Kim, Sunghyun
    • Biomedical Science Letters
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    • v.26 no.3
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    • pp.230-237
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    • 2020
  • Staphylococcus aureus (S. aureus) is known as a bacterium that can cause skin infections, respiratory system infections, and sinusitis; however, it can exist as a normal flora rather than a pathogen. Recently, methicillin-resistant S. aureus (MRSA) infections have emerged in the community as a new variant of community-associated (CA)-MRSA. In the present study, S. aureus and MRSA were isolated and cultured by collecting samples from facilities and environments where students and educational personnel have multiple contacts on university campuses; specifically, the nostrils and hands of college students were tested from July to September of 2019. The molecular properties of the isolated MRSA were analyzed, and the one MRSA strain was isolated from the university campuses. One MRSA that was isolated and cultured on campus was the mec complex group A and staphylococcal cassette chromosome (SCC) mec type II, which is a characteristic of healthcare-associated (HA)-MRSA, and SCCmec type V, which is a characteristic of CA-MRSA. This result was similar to other studies wherein the SCCmec type II was detected in SCCmec typing analysis in CA-MRSA. To confirm whether there is a new variant of CA-MRSA in the Republic of Korea, additional follow-up studies on the analysis of virulence factors of MRSA are needed by additionally separating CA-MRSA from the body parts of university students and educational personnel.

Gene Expression Profile of the Responder vs. the Non-Responder to the Acupuncture Mediated Analgesic Effects (침자극에 대한 반응과 비반응군 흰쥐의 특이 유전자 발현 연구)

  • Sur Young Chan;Rho Sam Woong;Lee Gi Seog;Ko Eun Jung;Hong Moo Chang;Shin Min Kyu;Min Byung il;Bae Hyun Su
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.17 no.3
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    • pp.633-642
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    • 2003
  • A pain is the symptom which defends against noxious stimulus about a human body, it is known that if the periphery of perceptive nerve were stimulated by a physical or chemical factors, the stimulation is induced by transmission to pain center in the cerebral cortex according to pain conduction tract. The treatment of pain is to decrease a stimulus that causes a pain or block off a nerve transmitting a stimulus or puts on a way to calm down pain center, but It is for adjustment of a pain to be the most representative in acupuncture among various ways to cure a pain in Oriental medicine. However, the analgesic effect of an individual response to acupuncture stimulation shows marked individual variations, so these days genetic a few approach is attempted. On this the author determined that the responding group was appointed those whose tail flick latency (TFL) responding time delayed the minimum of 30 % comparing with basal reaction time. For those whose TFL time had shorter than 30 % was grouped as a non-responding group. And then the hypothalamus of each group was dissected and RNA was further purified. After synthesizing cDNA using oligo dT primer, products were finally applied to the PCR. The results were as follows; The ratio of responding group to non-responding group was 6:4. Ach T (acetylcholinesterase T subunit), BF-I (Brain factor-I), DBH (Dopamine β-hydroxylase) and PNM (Phosphotidylethanolamine N-Methyltransferase) were revealed significantly in the responding group. Cathepsin B and Tau were revealed significantly in the non-responding group. The PCR results show that Ach T, BF-I, DBH and PNM are expressed abundantly in the responding group, where as cathepsin B and tau are abundant in the non-responding group. These results suggest that the analgesic effect on acupuncture stimulation is related to regulation of neurotransmitter as well as neurodegeration of cerebrum.

DNA Microarray Analysis of the Gene Expression Profile of Activated Human Umbilical Vein En-dothelial Cells. (올리고 마이크로어래이를 이용한 활성화된 인간 제대 정맥 내피세포의 유전자 발현 조사)

  • 김선용;오호균;이수영;남석우;이정용;안현영;신종철;홍용길;조영애
    • Journal of Life Science
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    • v.14 no.5
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    • pp.874-881
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    • 2004
  • Angiogenesis has been implicated in progression of inflammation, arthritis, psoriasis, atherosclerosis as well as tumor growth and metastasis. Intensive studies have been carried out to develop a strategy for cancer treatment by blocking angiogenesis. During angiogenesis, endothelial proliferation and migration essentially occurs upon activation. In this study, we compared the expression profiles of human umbilical endothelial cells activated by incubating in vitro in the rich medium containing several growth factors, and non-activated ones. cDNA targets derived from total RNAs of HUVEC activated for 13 h in M199 medium containing endothelial cell growth supplement, 20% fetal bovine serum, and heparin, after reaching 70~80% confluency, or non-activated, were hybridized onto oligonucleotide microarrays containing 1,8864 genetic elements. Unsupervised hierarchical clustering analysis resulted in two subgroups on dendrogram exhibiting activated and non-activated HUVECs. We then extracted 122 outlier genes which were shown to be up-regulated or under-expressed by at least 2-folds in activated HUVECs. Among these, 32 annotated genes were up-regulated and 38 were down-regulated in activated HUVECs. Interestingly, genes involved in cell proliferation, motility, and inflammation/ immune response were up-regulated in activated HUVEC, whereas genes for cell adhesion or vessel morphogenesis/function were down-regulated. Unexpectedly, the expression of genes well-characterized as angiogenesis markers was not changed except Eph-B4, which was down-regulated about 4 folds. 52 unknown genes were also up- or down-regulated. Therefore, these results could provide an opportunity to targeting new vascular molecules for the development of anti-angiogenic molecules.