• Title/Summary/Keyword: repeat

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Function and dysfunction of leucine-rich repeat kinase 2 (LRRK2): Parkinson's disease and beyond

  • Bae, Jae Ryul;Lee, Byoung Dae
    • BMB Reports
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    • v.48 no.5
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    • pp.243-248
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    • 2015
  • Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson's disease (PD). As such, functions and dysfunctions of LRRK2 in PD have been the subject of extensive investigation. In addition to PD, increasing evidence is suggesting that LRRK2 is associated with a wide range of diseases. Genome-wide association studies have implicated LRRK2 in Crohn's disease (CD) and leprosy, and the carriers with pathogenic mutations of LRRK2 show increased risk to develop particular types of cancer. LRRK2 mutations are rarely found in Alzheimer's disease (AD), but LRRK2 might play a part in tauopathies. The association of LRRK2 with the pathogenesis of apparently unrelated diseases remains enigmatic, but it might be related to the yet unknown diverse functions of LRRK2. Here, we reviewed current knowledge on the link between LRRK2 and several diseases, including PD, AD, CD, leprosy, and cancer, and discussed the possibility of targeting LRRK2 in such diseases. [BMB Reports 2015; 48(5): 243-248]

Optimization of a Multiplex DNA Amplification of Three Short Tandem Repeat Loci for Genetic Identification

  • Ryu, Jae-Song;Noh, Jae-Sang;Koo, Yoon-Mo;Lee, Choul-Gyun;So, Jae-Seong
    • Journal of Microbiology and Biotechnology
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    • v.10 no.6
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    • pp.873-876
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    • 2000
  • Short tendem repeat (STR) loci have been used in the field of forensic science. There are literally hundreds of STR systems which have been mapped throughout the human genome. These STR loci are found in almost every chromosome in the genome. They may be amplified using a variety of PCR primers. In this study, a DNA genotyping system based on the multiplex amplification of highly polymorphic STR loci was developed. Three STR loci with nonoverlapping allele size ranges have been utilized in the multiplex amplification including the Neurotensin receptor gene, D21S11, and Human tyrosine hydroxylase gene. The optimal condition for triplex PCr was obtained in a solution with a total volume of $25{\mu}l$ containing 2.0 U of Taq polymerase, 3 mM of $MgCl_2$, $300{\mu}M$ of dNTP, 10 pmole of each primer set, an annealing temperature of $62^{\circ}C$, and 35 cycles. The optimized condition was successfully employed in a family paternity test.

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SPECIAL CONSIDERATION ON THE RADARSAT REPEAT-PASS SAR INTERFEROMETRY

  • Kim, Sang-Wan;Won, Joong-Sun;Moon, Wooil-M.
    • Proceedings of the KSRS Conference
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    • 1999.11a
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    • pp.474-478
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    • 1999
  • SAR interferometry (InSAR) using the space-borne Synthetic Aperture Radar (SAR) have recently become one of the most effective tools monitoring surface changes caused by landslides, earthquakes, subsidences or volcanic eruption. This study focuses on examining the feasibility of InSAR using the RADARSAT data. Although the RABARSAT SAR with its high resolution and variable incidence angle has several advantages for repeat-pass InSAR, it has two key limitations: first, the orbit is not precisely known; and second, RADARSAT's 24-day repeat pass interval is not very favourable for retaining useful coherence. In this study, two pairs of RADARSAT data in the Nahanni area, NWT, Canada have been tested. We will discuss about the special consideration required on the interferometric processing steps specifically for RADARSAT data including image co-registration, spectral filtering in both azimuth and range, estimation of the interferometric baseline, and correction of the interferogram with respect to the "flat earth" phase contribution. Preliminary results can be summarized as: i) the properly designed azimuth filter based upon the antenna characteristic improves coherence considerably if difference in Doppler centroid of the two images is relatively large; ii) the co-registration process combined by fringe spectrum and amplitude cross-correlation techniques results in optimal matching; iii) the baseline is not always possible to be estimated from the definitive orbit information.

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Analysis of Fifty-five Patients with Gasserian Ganglion Block (삼차신경절 차단을 받은 55예의 분석)

  • Lee, Sun-Hak;Kim, Yong-Ik;Kim, Jin-Soo;Cho, Wook-Yeon;Park, Wook
    • The Korean Journal of Pain
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    • v.10 no.1
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    • pp.11-15
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    • 1997
  • Background : There are several treatment of trigeminal neuralgia including Gasserian Ganglion Block. This paper retrospectively analyze the efficacy of Gasserian Ganglion Block as main treatment of trigeminal neuralgia. Methods : We studied 55 patients for followings; sex, age, duration from onset to visit, consulted mediator, causes, characteristics of pain, affected area, types of block, kinds and volume of used neurolytic agents, duration from first block to repeat block, types of repeat block, complications, if surgery was necessary after block. Results : Characteristic items of trigeminal neuralgia are similar with other studies. Mean duration of pain relief was 23 months. The duration was shortened in the repeat block. There were no significant complication. Conclusion : Considering Gasserian Ganglion Block as main treatment of trigeminal neuralgia is an effective and safe method. Therefore we would like to recommend the need to increase public awareness of trigeminal neuralgia and its possible treatment in pain clinics through mass commanication.

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Spreading Codes Based Multicast Feedback Scheme for Reliable Multicast Services (신뢰성 있는 멀티캐스트 서비스를 위한 스프레딩 코드 기반 피드백 기법)

  • Lee, Howon
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.19 no.4
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    • pp.787-793
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    • 2015
  • In order to support reliable medium access control (MAC) layer multicast services in Broadband Wireless Access (BWA) networks, we here propose spreading codes (Cumulative ACK (CA) code and ARQ Feedback Request (AFR) code) based reliable multicast feedback scheme. The status indications based on the automatic repeat request (ARQ) mechanism are needed in some multicast services. In accordance with various wireless channel environments, we demonstrate the performance excellency of our proposed scheme with respect to required uplink resources compared with the original feedback scheme based on unicast ARQ feedback messages. In addition, we analyze packet error rate (PER) against the various wireless channel environments.

Failure to Support Associations of Neurotrophin-3(NT-3) Gene Polymorphism in Korean Schizophrenic Patients

  • Lee, Yu-Sang;Han, Jin-Hee;Chung, Eun-Kee;Yang, Byung-Hwan;Kim, Hyeong-Seob;Lee, Jung-Sik;Joo, Yeon-Ho;Chai, Young-Gyu
    • Korean Journal of Biological Psychiatry
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    • v.4 no.2
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    • pp.234-236
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    • 1997
  • Though initial report from Japan showed positive association of schizophrenia with dinucleotide repeat polymorphism in the NT-3 gene, subsequent studies showed mixed results. Therefore we conducted a replication study with Korean schizophrenics and matched controls who share similar ethnic background with Japanese population. The frequency of allele of dinucleotide repeat at 147 base pairs in the NT-3 gene was slightly increased, however, failed to reach statistical significance(${\chi}^2$=1.884, df=1, p<0.170) between the two groups. These findings do not support an association of NT-3 gene polymorphism with schizophrenia in Korean sample.

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Genetic Diversity of Ascaris in China Assessed Using Simple Sequence Repeat Markers

  • Zhou, Chunhua;Jian, Shaoqing;Peng, Weidong;Li, Min
    • Parasites, Hosts and Diseases
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    • v.56 no.2
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    • pp.175-181
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    • 2018
  • The giant roundworm Ascaris infects pigs and people worldwide and causes serious diseases. The taxonomic relationship between Ascaris suum and Ascaris lumbricoides is still unclear. The purpose of the present study was to investigate the genetic diversity and population genetic structure of 258 Ascaris specimens from humans and pigs from 6 sympatric regions in Ascaris-endemic regions of China using existing simple sequence repeat data. The microsatellite markers showed a high level of allelic richness and genetic diversity in the samples. Each of the populations demonstrated excess homozygosity (Ho0). According to a genetic differentiation index (Fst=0.0593), there was a high-level of gene flow in the Ascaris populations. A hierarchical analysis on molecular variance revealed remarkably high levels of variation within the populations. Moreover, a population structure analysis indicated that Ascaris populations fell into 3 main genetic clusters, interpreted as A. suum, A. lumbricoides, and a hybrid of the species. We speculated that humans can be infected with A. lumbricoides, A. suum, and the hybrid, but pigs were mainly infected with A. suum. This study provided new information on the genetic diversity and population structure of Ascaris from human and pigs in China, which can be used for designing Ascaris control strategies. It can also be beneficial to understand the introgression of host affiliation.

A Case of Facioscapulohumeral Muscular Dystrophy Confirmed by Genetic Analysis (유전자분석으로 진단한 얼굴어깨위팔근육디스트로피 1예)

  • Lee, Seok-Ho;Ki, Chang-Seok;Lee, Seung-Chul;Park, Jin-Seok;Koh, Seong-Ho;Lee, Kyu-Yong
    • Annals of Clinical Neurophysiology
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    • v.10 no.1
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    • pp.66-69
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    • 2008
  • Facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited muscular dystrophy, is an autosomal dominant disease characterized by progressive weakness and wasting of the facial, shoulder-girdle, upper arm, foot extensor, and pelvic girdle muscles. FSHD is caused by contraction of the polymorphic D4Z4 repeat in the subtelomere of chromosome 4q. However, there has been no report of genetically confirmed FSHD in Korea. We report a patient with FSHD who was found to have a deletion of D4Z4 repeat on chromosome 4q35.

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Surface Characteristics of Polymer Material Treated by Atmospheric Pressure Plasma (상압 플라즈마 표면처리에 의한 고분자 재질의 표면특성변화)

  • Seo, Seung-Ho;Chang, Sung-Hwan;Yoo, Yeong-Eun;Chung, Jae-Dong
    • Korean Journal of Air-Conditioning and Refrigeration Engineering
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    • v.22 no.5
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    • pp.282-288
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    • 2010
  • Experiment on the surface characteristics of polymer films treated by atmospheric pressure plasma has been conducted. We chose the process parameters as frequency, gas flow, treatment time, and scrutinized the effects of the process parameters on the surface characteristics of polymer materials by measuring the contact angle and examining SEM. As the result, the surface characteristics highly depends on frequency, reaction gas and treatment time. In the case of PC substrate, the contact angle was changed from $83.5^{\circ}$ (before plasma treatment) to $30^{\circ}$ (after plasma treatment) at 30 kHz, CDA 0.6%, and number of repeat 7. In the case of PET substrate, the contact angle change was found from $59^{\circ}$ to $23.5^{\circ}$ at 20 kHz, CDA 0.6%, and number of repeat 7. In the case of EVA substrate, it shows from $84^{\circ}$ to $44.2^{\circ}$ at 30 kHz, CDA 0.6%, and number of repeat 7.

The Effect of Self-foot Reflexology on the Relief of Premenstrual Syndrome and Dysmenorrhea in High School Girls (자가발반사요법이 여고생의 월경전증후군과 생리통에 미치는 효과)

  • 김이순;김민자;정인숙
    • Journal of Korean Academy of Nursing
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    • v.34 no.5
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    • pp.801-808
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    • 2004
  • Purpose: This study was aimed to identify the effect of self-foot reflexology on the relief of premenstrual syndrome and dysmenorrhea in high school girls. Method: Study subjects was 236 women residing in the community, teachers and nurses who were older than 45 were recruited. Data was collected with self administered questionnaires from July 1st to August 31 st, 2003 and analysed using SPSS/WIN 10.0 with Xtest, t-test, and stepwise multiple logistic regression at a significant level of =.05. Result: The breast cancer screening rate was 57.2%, and repeat screening rate was 15.3%. With the multiple logistic regression analysis, factors associated with mammography screening were age and perceived barriers of action, and factors related to the repeat mammography screening were education level and other cancer screening experience. Conclusion: Based on the results, we recommend the development of an intervention program to decrease the perceived barrier of action, to regard mammography as an essential test in regular check-up, and to giveactive advertisement and education to the public to improve the rates of breast cancer screening and repeat screening.