• 제목/요약/키워드: mutation rate

검색결과 351건 처리시간 0.024초

Prolonging Network Lifetime by Optimizing Actuators Deployment with Probabilistic Mutation Multi-layer Particle Swarm Optimization

  • Han, Yamin;Byun, Heejung;Zhang, Liangliang
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • 제15권8호
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    • pp.2959-2973
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    • 2021
  • In wireless sensor and actuator networks (WSANs), the network lifetime is an important criterion to measure the performance of the WSAN system. Generally, the network lifetime is mainly affected by the energy of sensors. However, the energy of sensors is limited, and the batteries of sensors cannot be replaced and charged. So, it is crucial to make energy consumption efficient. WSAN introduces multiple actuators that can be regarded as multiple collectors to gather data from their respective surrounding sensors. But how to deploy actuators to reduce the energy consumption of sensors and increase the manageability of the network is an important challenge. This research optimizes actuators deployment by a proposed probabilistic mutation multi-layer particle swarm optimization algorithm to maximize the coverage of actuators to sensors and reduce the energy consumption of sensors. Simulation results show that this method is effective for improving the coverage rate and reducing the energy consumption.

A case of cystinuria with a heterozygous SLC3A1 mutation presenting with recurrent multiple renal stones in a 14-year-old boy

  • Hye Won Cho;Min Hwa Son;Hyung Eun Yim
    • Childhood Kidney Diseases
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    • 제27권2호
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    • pp.127-132
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    • 2023
  • Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine. Most patients develop cystine stones throughout their lifetime. Recurrent renal stones need to be extracted by repeated urologic interventions. Treatment options of cystinuria for preventing stone recurrence are limited and poorly tolerated. In this study, we report a pediatric case of cystinuria with a heterozygous SLC3A1 mutation diagnosed by stone analysis, measurement of urine cystine excretion, and genetic analysis. There were recurrent renal stones despite repetitive shock wave lithotripsy and retrograde intrarenal surgery. However, the rate of stone formation seemed to be slower after D-penicillamine was added into adequate hydration and urinary alkalinization.

PIK3CA Mutations and Neoadjuvant Therapy Outcome in Patients with Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer: A Sequential Analysis

  • Seo, Youjeong;Park, Yeon Hee;Ahn, Jin Seok;Im, Young-Hyuck;Nam, Seok Jin;Cho, Soo Youn;Cho, Eun Yoon
    • Journal of Breast Cancer
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    • 제21권4호
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    • pp.382-390
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    • 2018
  • Purpose: PIK3CA mutation is considered to be a possible cause for resistance to neoadjuvant chemotherapy (NAC) in human epidermal growth factor receptor 2 (HER2)-positive breast cancer. We investigated the association between PIK3CA mutations and the outcome of NAC in HER2-positive breast cancers. Methods: A total of 100 HER2-positive breast cancer patients who had undergone NAC and surgery between 2004 and 2016 were examined. Mutation status was sequentially assessed in pre-NAC, post-NAC, and recurrent specimens taken from these patients. Results: PIK3CA mutations were identified in the sequential specimens of 17 patients (17.0%). These 17 patients experienced shorter disease-free survival (DFS) than the rest of the patients (58.3 months vs. 119.3 months, p=0.020); however, there was no significant difference in pathologic complete response (pCR) and overall survival (OS) (pCR, 17.6% vs. 33.7%, p=0.191; OS, 84.5 months vs. 118.0 months, p=0.984). While there was no difference in pCR between the wild-type and mutant PIK3CA groups in pre-NAC specimens (25.0% vs. 31.8%, p=0.199), PIK3CA mutations correlated with lower pCR in postNAC specimens (0.0% vs. 24.3%, p<0.001). Multivariate analysis revealed significantly worse DFS in the mutant PIK3CA group than in the wild-type group (hazard ratio, 3.540; 95% confidence interval, 1.001-12.589; p=0.050). Moreover, the DFS curves of the change of PIK3CA mutation status in sequential specimens were significantly different (p=0.016). Conclusion: PIK3CA mutation in HER2-positive breast cancer was correlated with a lower pCR rate and shorter DFS. These results suggest that PIK3CA mutation is a prognostic marker for NAC in HER2-positive breast cancer, especially in post-NAC specimens.

비소세포폐암에서 PNA-Mediated PCR Clamping을 이용한 EGFR 돌연변이 분석법 (PNA-Mediated PCR Clamping for the Detection of EGFR Mutations in Non-Small Cell Lung Cancer)

  • 이계영;김희정;김순종;유광하;김원동;오서영;김완섭
    • Tuberculosis and Respiratory Diseases
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    • 제69권4호
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    • pp.271-278
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    • 2010
  • Background: Recent studies have demonstrated that the epidermal growth factor receptor (EGFR) genotype is the most important predictive marker to EGFR-tyrosine kinase inhibitors (TKIs) and first-line gefitinib treatment will be approved in the near future for use in non-small cell lung cancer (NSCLC) patients with the EGFR mutation. Direct sequencing is known to be the standard for detecting EGFR mutations; however, it has limited sensitivity. Peptide nucleic acids (PNA)-mediated PCR clamping method is a newly introduced method for analyzing EGFR mutations with increased sensitivity and stability. Methods: A total of 71 NSCLC patients were analyzed for EGFR mutations using the PNA-mediated PCR clamping technique. Sixty-nine patients were analyzed for clinicopathologic correlation with EGFR genotype; 2 patients with indeterminate results were excluded. In order to determine EGFR-TKI drug response, 57 patients (42 gefitinib, 15 erlotinib) were included in the analysis. Results: The EGFR mutation rate was 47.8%. Being female, a non-smoker, and having adenocarcinoma were favorable clinicopathologic factors, as expected. However, more than a few smokers (33.3%), male (28.1%), and patients with non-adenocarcinoma (28.6%) had the EGFR mutation. Having a combination of favorable clinicopathologic factors did not increase the EGFR mutation rate significantly. Drug response to EGFR-TKIs showed significant differences depending on the EGFR genotype; ORR was 14.3% for wild type vs 69.0% for mutant type; DCR is 28.6% for wild type vs 96.6% for mutant type. The median EGFR-TKI treatment duration is 7.6 months for mutant type group and 1.4 months for wild type group. Conclusion: EGFR genotype determined using the PNA-mediated PCR clamping method is significantly correlated with the clinical EGFR-TKI responses and PNA-mediated PCR.

High Frequency of TP53 but not K-ras Gene Mutations in Bolivian Patients with Gallbladder Cancer

  • Asai, Takao;Loza, Ernesto;Roig, Guido Villa-Gomez;Ajioka, Yoichi;Tsuchiya, Yasuo;Yamamoto, Masaharu;Nakamura, Kazutoshi
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권13호
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    • pp.5449-5454
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    • 2014
  • Although genetic characteristics are considered to be a factor influencing the geographic variation in the prevalence of gallbladder cancer (GBC), they have not been well studied in Bolivia, which has a high prevalence rate of GBC. The purpose of this study was to examine the frequency of TP53 and K-ras mutations in Bolivian patients with GBC and to compare them with our previous data obtained in other high-GBC-prevalence countries, namely Japan, Chile, and Hungary. DNA was extracted from cancer sites in paraffin-embedded tissue from 36 patients using a microdissection technique. TP53 mutations at exons 5 to 8 and K-ras mutations at codons 12, 13 and 61 were examined using direct sequencing techniques. The data obtained were compared with those in the other high-GBC-prevalence countries. Of the 36 patients, 18 (50.0%) had a TP53 mutation (one mutation in each of 17 patients and three mutations in one patient), and only one (2.8%) had a K-ras mutation. Of the 20 TP53 mutations, 12 were of the transition type (60.0%). This rate was significantly lower than that in Chile (12/12, P<0.05). In addition, three mutations were of the CpG transition type (15.0%), which is a feature of endogenous mutation. All three were found in the hot spot region of the TP53 gene. In contrast, G:C to T:A transversion was found in Bolivia, suggesting the presence of exogenous carcinogens. Our findings suggest that the development of GBC in Bolivia is associated with both exogenous carcinogens and endogenous mechanisms. The identification of an environmental risk factor for GBC is needed to confirm these findings.

전기충격과 화학적 돌연변이원 N-Methyl-N'-Nitro-N-Nitrosoguanidine의 병행처리에 의한 방선균과 효모의 돌연변이 유발 (Induction of Mutation of Streptomyces and Yeast by Simultaneous Treatment of Electric Shock and Chemical Mutagen N-Methyl-N'-Nitrosoguanidine)

  • 선종호;김정희;박은미;김근
    • 미생물학회지
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    • 제33권3호
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    • pp.199-202
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    • 1997
  • 방선균(Streptomyces) 포자와 효모(Saccharomyces) 반수체 및 배수체 세포를 대상으로 전기충격(AC 38V/1.3 cm)이 화학적 돌연변이원인 N-methyl-N'-nitro-N-nitrosoguanidine(NTG)의 세포치사효과와 돌연변이 유발에 미치는 영향을 조사하였다. 방선균의 경우 전기충격 단독 처리로는 180분 처리하였을 때 생존율이 100%이었으나 960분 처리한 경우에는 모두 사멸하였다. 전기충격과 NTG처리를 병행한 바 방성균의 경우 180분 처리시, NTG 단독 처리시보다 생존율이 72%에서 48%로 감소되었고, 반수체 효모의 경우 40분 처리시 8%에서 3%로, 배수체 효모의 경우 25%에서 10%로 각각 감소되었다. 전기충격과 NTG에 의한 영양요구 돌연변이 형성율에 있어서는 전기충격이 NTG에 의한 돌연변이율을 120분 처리 후 1.8%에서, 13.6%로, 반수체효모의 경우 40분 처리후 2.4%에서 4.8%로 각각 증가시켰다.

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SARS-CoV-2 Omicron Mutation Is Faster than the Chase: Multiple Mutations on Spike/ACE2 Interaction Residues

  • Sinae Kim;Tam T. Nguyen;Afeisha S. Taitt;Hyunjhung Jhun;Ho-Young Park;Sung-Han Kim;Yong-Gil Kim;Eun Young Song;Youngmin Lee;Hokee Yum;Kyeong-Cheol Shin;Yang Kyu Choi;Chang-Seon Song;Su Cheong Yeom;Byoungguk Kim;Mihai Netea;Soohyun Kim
    • IMMUNE NETWORK
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    • 제21권6호
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    • pp.38.1-38.8
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    • 2021
  • Recently, a new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (B.1.1.529) Omicron variant originated from South Africa in the middle of November 2021. SARS-CoV-2 is also called coronavirus disease 2019 (COVID-19) since SARS-CoV-2 is the causative agent of COVID-19. Several studies already suggested that the SARS-CoV-2 Omicron variant would be the fastest transmissible variant compared to the previous 10 SARS-CoV-2 variants of concern, interest, and alert. Few clinical studies reported the high transmissibility of the Omicron variant but there is insufficient time to perform actual experiments to prove it, since the spread is so fast. We analyzed the SARS-CoV-2 Omicron variant, which revealed a very high rate of mutation at amino acid residues that interact with angiostatin-converting enzyme 2. The mutation rate of COVID-19 is faster than what we prepared vaccine program, antibody therapy, lockdown, and quarantine against COVID-19 so far. Thus, it is necessary to find better strategies to overcome the current crisis of COVID-19 pandemic.

잡음 영상에서 불균등 돌연변이 연산자를 이용한 효율적 에지 검출 (Edge detection method using unbalanced mutation operator in noise image)

  • 김수정;임희경;서요한;정채영
    • 정보처리학회논문지B
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    • 제9B권5호
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    • pp.673-680
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    • 2002
  • 이 논문은 진화 프로그래밍과 개선된 역전파 알고리즘을 이용한 에지 검출 방법을 제안한다. 진화 프로그래밍은 알고리즘의 성능저하와 계산비용을 고려하여 교차 연산은 수행하지 않고, 선택연산자와 돌연변이 연산자를 사용한다. 개선된 역전파 알고리즘은 학습단계에서 연결강도를 변화시킬 때 이전학습단계의 연결강도를 보조적으로 활용하는 방법이다. 이 개선된 역전파 알고리즘은 학습률 $\alpha$를 작은값으로 설정하기 때문에 각 학습단계에서의 연결강도 변화량이 기존의 방법에 비해 상대적으로 줄어들게 되어 학습이 느려지는 문제점을 해결하였다. 실험결과 학습시간과 검출률에 있어서 GA-BP(GA : Genetic Algorithm BP : Back-Propagation)를 이용한 방법보다 제안한 EP-MBP(EP : Evolutionary Programming, MBP :Momentum Back-Propagation)를 이용하여 학습시킨 방법이 학습시간의 단축과 효율적인 에지 검출 결과를 얻을 수 있었다.

Mutation Analysis of KRAS and BRAF Genes in Metastatic Colorectal Cancer: a First Large Scale Study from Iran

  • koochak, Aghigh;Rakhshani, Nasser;Niya, Mohammad Hadi Karbalaie;Tameshkel, Fahimeh Safarnezhad;Sohrabi, Masoud Reza;Babaee, Mohammad Reza;Rezvani, Hamid;Bahar, Babak;Imanzade, Farid;Zamani, Farhad;Khonsari, Mohammad Reza;Ajdarkosh, Hossein;Hemmasi, Gholamreza
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권2호
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    • pp.603-608
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    • 2016
  • Background: The investigation of mutation patterns in oncogenes potentially can make available a reliable mechanism for management and treatment decisions for patients with colorectal cancer (CRC). This study concerns the rate of KRAS and BRAF genes mutations in Iranian metastatic colorectal cancer (mCRC) patients, as well as associations of genotypes with clinicopathological features. Materials and Methods: A total of 1,000 mCRC specimens collected from 2008 to 2012 that referred to the Mehr Hospital and Partolab center, Tehran, Iran enrolled in this cross sectional study. Using HRM, Dxs Therascreen and Pyrosequencing methods, we analyzed the mutational status of KRAS and BRAF genes in these. Results: KRAS mutations were present in 33.6% cases (n=336). Of KRAS mutation positive cases, 85.1% were in codon 12 and 14.9% were in codon 13. The most frequent mutation at KRAS codon 12 was Gly12Asp; BRAF mutations were not found in any mCRC patients (n=242). In addition, we observed a strong correlation of KRAS mutations with some clinicopathological characteristics. Conclusions: KRAS mutations are frequent in mCRCs while presence of BRAF mutations in these patients is rare. Moreover, associations of KRAS genotypes with non-mucinous adenocarcinoma and depth of invasion (pT3) were remarkable.

대두의 방사선감수성과 돌연변이 출현양상에 관한 연구 (Studies on the Relationship between Radiosensitivity and Mutation Induction in Soybean)

  • 권신한;원종락
    • 한국작물학회지
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    • 제26권4호
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    • pp.318-323
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    • 1981
  • 대두의 돌연변이육종을 함에 있어서 돌연변이기의 효율적인 선발법을 확립하기 위하여 M_1세대의 초장 및 주당종자수와 M_2세대의 돌연변이 출현과의 관계 그리고 M_1 식물체의 키메라에 대해 조사한 결과를 요약하면 다음과 같다. 1. 30kR의 감마선을 종자에 처리하였을 때 M_1초장의 분포는 무처리에 비해 45-68% 감소되는 개체가 전체의 63.7%를 차지하였으며 이 범위에 속하는 집단내에서 엽녹소변이는 71.4%, 가시적 형태변이가 62.3%를 차지하였다. 2. M_1주당종자수는 6-15개인 개체가 전체의 58.9%를 차지하였고 이때 엽녹소변이는 55.3%, 가시적 형태변이는 63.4%를 차지하였다. 3. M_1 집단에서 초장과 주당종자수는 통계적으로 유의한 정의 상관이 있었다. 4. M_1의 초장의 장해가 심하고 주당종자수가 적을 수록 M_2에서 가시적 형태변이의 출현율이 높았으며 반대로 엽녹소변이는 초장장해가 적고 주당종자수가 많을수록 변이출현율이 높은 경향이었다. 5. 변이가 일어난 M_2 family의 변이의 sector 크기는 M_1주당종자수 적을수록 크게 나타났다. 6. 엽녹소변이를 대상으로 M_1식물체의 꼬투리별로 돌연변이의 출리양상을 보면 식물체의 부위별로 일정한 경향이 없이 임의로 발생하였다. 7. 대두의 돌연변이육종을 효율적으로 수행하기 위해서는 종자에 고선량의 방사선을 처리할 것과 M_1의 주당종자수가 적은 개체를 수확하여 M_2에서 집단으로 양성할 것을 추천한다.

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