• 제목/요약/키워드: 3p deletion

검색결과 208건 처리시간 0.025초

CNN 기반 동영상의 프레임 삭제 검출 기법 (Detection of Frame Deletion Using Convolutional Neural Network)

  • 홍진형;양윤모;오병태
    • 방송공학회논문지
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    • 제23권6호
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    • pp.886-895
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    • 2018
  • 본 논문에서는 동영상의 압축 과정에서 발생하는 규칙성을 이용하여 동영상의 조작 여부를 검출하는 기법에 대해 소개한다. 제안방식은 동영상의 이중 압축과 일부 영상의 조작에 의해 잃어버린 계층적 규칙성을 이용한다. 이러한 불규칙성을 추출하기 위해 HEVC의 기본 단위인 CU와 TU의 분할정보를 이용한다. 성능 향상을 위해 지역적인 정보를 활용하여 CU와 TU의 분할 지도를 제작한 뒤, GoP 단위로 묶어 입력 데이터를 제작한다. 효과적인 분류를 위하여 3차원 합성곱 신경망을 이용하여 동영상의 이중 압축 및 조작 여부를 판단한다. 실험 결과, 기존의 기계학습 알고리즘을 이용한 연구 결과에 비해 더욱 효과적으로 동영상의 조작 여부를 판단함을 확인하였다.

Analysis of the Caenorhabditis elegans dlk-1 Gene Expression

  • Lee, Bum-Noh;Cho, Nam-Jeong
    • Animal cells and systems
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    • 제9권3호
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    • pp.107-111
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    • 2005
  • C. elegans DLK-1 has been reported to play an important role in synaptogenesis by shaping the structure of presynaptic terminal. In this study, we investigated the expression pattern and regulation of the dlk-1 gene in C. elegans. To determine the expression pattern, we made a dlk-1::gfp fusion construct, named pPDdg1, which consisted of -2.2 kb 5' upstream region, the first exon, the first intron, and a part of the second exon of the dlk-1 gene. By microinjecting this construct into the worm, we observed that the DLK-1::GFP was expressed mainly in neurons. We next examined the regulatory elements of gene expression by deletion analysis of pPDdg1. Removal of a large portion of the 5' upstream region (${\Delta}-361$ to -2246) of the gene had little effect on the expression pattern, whereas deletion of the first intron led to elimination of the DLK-1::GFP expression in most of the neurons. Our results suggest that the first intron of the C. elegans dlk-1 gene contains the regulatory element critical for gene expression.

Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition

  • Chen, Qing-Wei;Zhang, Xiao-Mei;Zhou, Jian-Nong;Zhou, Xin;Ma, Guo-Jian;Zhu, Ming;Zhang, Yuan-Ying;Yu, Jun;Feng, Ji-Feng;Chen, Sen-Qing
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권12호
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    • pp.4915-4920
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    • 2015
  • Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

  • Spruijt, Nicole E.;Kon, Moshe;Molen, Aebele B. Mink Van Der
    • Archives of Plastic Surgery
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    • 제41권4호
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    • pp.344-349
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    • 2014
  • Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was $136.5^{\circ}$ (standard deviation, $5.3^{\circ}$; range, $122.3-144.8^{\circ}$). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle ($138^{\circ}$ vs. $134^{\circ}$, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

Influences of Hinge Region of a Systhetic Antimicrobial Peptide, Cecropin A(1-13)-Melittin(1-13) Hybrid on Antibiotic Activity

  • 신송엽;강주현;이동건;장소윤;서무열;김길룡;함경수
    • Bulletin of the Korean Chemical Society
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    • 제20권9호
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    • pp.1078-1084
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    • 1999
  • A synthetic cecropin A(1-13)-melittin(1-13) [CA-ME] hybrid peptide was known to be an antimicrobial peptide having strong antibacterial, antifungal and antitumor activity with minimal cytotoxic effect against human erythrocyte. Analogues were synthesized to investigate the influences of the flexible hinge region of CA-ME on the antibiotic activity. Antibiotic activity of the peptides was measured by the growth inhibition against bac-terial, fungal and tumor cells and vesicle-aggregating or disrupting activity. The deletion of Gln-Gly-Ile (P1) or Gly-Gln-Gly-Ile-Gly (P3) from CA-ME brought about a significant decrease on the antibiotic activities. In contrast, Gly-Ile-Gly deletion (P2) from CA-ME or Pro insertion (P5) instead of Gly-Gln-Gly-Ile-Gly of CA-ME retained antibiotic activity. This result indicated that the flexible hinge or β-bend structure provided by Gly-Gln-Gly-Ile-Gly, Gln-Gly, or Pro in the central region of the peptides is requisite for its effective antibiotic activity and may facilitate easily the hydrophobic C-terminal region of the peptide to penetrate the lipid bilayers of the target cell membrane. In contrast, P4 and P6 with Gly-Gln-Gly-Pro-Gly or Gly-Gln-Pro in the central region of the peptide caused a drastic reduction on the antibiotic activities. This result suggested that the con-secutive β-bend structure provided by Gly-Gln-Gly-Pro-Gly or Gly-Gln-Pro in the central hinge region of the peptide seems to interrupt the ion channel/pore formation on the target cell membranes.

RTN4 3'-UTR Insertion/Deletion Polymorphism and Susceptibility to Non-Small Cell Lung Cancer in Chinese Han Population

  • Lu, De-Yi;Mao, Xu-Hua;Zhou, Ying-Hui;Yan, Xiao-Long;Wang, Wei-Ping;Zheng, Ya-Biao;Xiao, Juan-Juan;Zhang, Ping;Wang, Jian-Guo;Ashwani, Neetika;Ding, Wei-Liang;Jiang, Hua;Shang, Yan;Wang, Ming-Hua
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권13호
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    • pp.5249-5252
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    • 2014
  • Nogo protein, encoded by gene reticulon-4 (RTN4), includes three major isoforms by different splicing, named Nogo-A Nogo-B and Nogo-C. Nogo proteins play an important role in the apoptosis of cells, especially in tumor cells. RTN4 single nucleotide polymorphisms (SNPs) can influence the efficiency of transcription and translation thus being related with an individual's predisposition to cancer. The CAA insertion/deletion polymorphism (rs34917480) within RTN4 3'-UTR has been reported to be associated with many cancer types. In order to investigate the relationship between this polymorphism and susceptibility to non-small cell lung cancer (NSCLC) in the Chinese population, we conducted the present case-control study including 411 NSCLC patients and 471 unrelated healthy controls. The genotype distributions were significantly different between cases and controls (p=0.014). We found that the del allele could significantly increase NSCLC risk (ins/ins vs ins/del: p=0.007, OR 1.46, 95%CI=1.11-1.93; dominant model: p=0.004, OR 1.47, 95%CI=1.13-1.92 and allele model: p=0.008, OR 1.35, 95%CI=1.08-1.67). This association was stronger in participants over 60 years old, males and smokers. We therefore conclude that the CAA insertion/deletion polymorphism (rs34917480) contributes to non-small cell lung cancer risk in Chinese population. Age, sex and environmental exposure are also related to carcinogenic effects of rs34917480.

A Study of a Sodium Bicarbonate Cotransporter Functionally Expressed in Xenopus laevis Oocytes

  • Lee, Tae-Hwan;Kim, Sung-Beom;Park, Kyung-Pyo
    • Journal of Korean Dental Science
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    • 제4권2호
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    • pp.73-78
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    • 2011
  • Purpose: $HCO_3{^-}$ is the most important ion to buffer the acidity of saliva. The transport of $HCO_3{^-}$ is mediated by electrogenic $Na^+/HCO_3{^-}$ cotransporter 1 (NBCe1), which expressed in various tissues including salivary glands, kidney and pancreas, etc. This experiment was performed to investigate regulatory site of NBCe1involved in the pH regulation using various mutants of NBCe1. Materials and Methods: Human parotid gland NBCe1 (hpNBCe1) and mutants by deletion of 1~285 bp and 1~1,035 bp were prepared. After microinjection of each cRNA to oocytes of Xenopus laevis, they were incubated for 2~3 days. The function of each protein was tested by electrophysiological method. Results: When oocytes were exposed to the $HCO_3{^-}$ buffered solution, 1~285 bp deleted mutant hpNBCe1 evoked a marked hyperpolarization ranging from -90 mV to -160 mV (average: -134 mV; n=12) compared to the full length of hpNBCe1. Although 1~1,035 bp deleted mutant hpNBCe1 was also expressed in the plasma membrane, but it did not show any changes of membrane potentials. Conclusion: Our deletion mutant study demonstrated that 1~285 bp of the NBCe1 is the major domain to determine $HCO_3{^-}$ transport ratio.

어분이 $40\%$ 함유된 배합사료에 P, Ca, Zn, Mg, Fe, K, Mn과 Se 무 첨가가 조피볼락의 성장에 미치는 효과 (Effects of Deletion of P, Ca, Zn, Mg, Fe, K, Mn, or Se from Mineral Premix in the Diets Containing $40\%$ Fish Meal on Growth Performance of Juvenile Korean Rockfish (Sebastes schlegeli))

  • 이상민;박승렬;김태진;명정인;장영진
    • 한국수산과학회지
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    • 제31권2호
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    • pp.252-258
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    • 1998
  • 어분이 $40\%$ 첨가된 조피볼락 실용 배합사료의 미네랄 첨가효과와 적정 mineral premix 개발에 필요한 자료를 제공하기 위해 mineral premix중에 P, Ca, Zn, Mg, Fe, K, Mn 및 Se을 각각 첨가하지 않은 실험구와 mineral pre-mix 전부를 첨가하지 않은 실험구를 설정하여 9주간 3 반복으로 사육하였다. 어분 $60\%$ 첨가사료 (HF)와 어분 $40\%$ 첨가사료 (대조구)에 미네랄을 모두 첨가했을 때의 증체율 및 사료효율은 서로 차이가 없었다 (P>0.05). 어분을 $40\%$ 첨가한 사료에 P, Mg, Fe 및 Mn을 각각 첨가하지 않은 사료의 증체율은 미네랄을 모두 첨가한 HF 사료 및 대조사료와 유의차가 없었고 (P>0.05), Ca, Zn, K 및 Se을 각각 첨가하지 않은 사료는 대조구 및 HF사료보다 유의하게 낮았다 (P<0.05). 일일 사료섭취율은 사료간에 유의차는 없었으며, 사료효율은 Zn 무첨가구와 mineral premix를 첨가하지 않은 실험구가 대조구보다 낮은 값 (P<0.05)을 보였으며, 그 외 실험구들은 차이가 없었다. 간의 일반성분 및 중량지수는 사료의 미네랄에 영향을 받지 않았다 (P>0.05). 위의 결과로부터 사료에 어분이 $40\%$ 함유된 사료에는 P, Mg, Fe 및 Mn을 별도로 첨가하지 않아도 될 것으로 판단되며, Ca, Zn, K 및 Se은 별도 첨가가 필요할 것으로 보인다.

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Tumor suppressor $p16^{INK4a}$ in Cancer

  • 이미현;최부영;서영준
    • 한국환경성돌연변이발암원학회지
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    • 제25권3호
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    • pp.87-96
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    • 2005
  • [ $p16^{INK4a}$ ] is a tumor suppressor that belongs to the INK4 family of the cyclin D-dependent kinases (cdk) inhibitors. It plays regulatory roles in cell proliferation and in tumorigenesis by interacting with Rb signaling. Abnormally elevated $p16^{INK4a}$ protein expression causes cell cycle arrest (G1/S transition) and loss of cyclin-cdk activity. In many cancers, $p16^{INK4a}$ is altered by mutation, deletion, and promoter methylation. This review summarizes the function of p16 as an important regulator of cancer pathobiology and a promising target fer developing cancer therapeutic and chemopreventive agents.

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Functional assessment of attenuated mutants of Pepper mild mottle virus

  • Yoon, J.Y.;Tsuda, S.;Ryu, K.H.
    • 한국식물병리학회:학술대회논문집
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    • 한국식물병리학회 2003년도 정기총회 및 추계학술발표회
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    • pp.144.1-144
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    • 2003
  • Attenuated viruses can protect their hosts against challenge to their related viruses. Increasing evidence shows that mutations of the tobamoviral 126/183 kDa protein play a major role in the viral attenuation and contribute to the cross protection mechanism. In this study, four mutants of Pepper mild mottle virus (PMMoV) have been constructed by mutagenesis; two mutants, pTPpoly348 and pTPpoly762, were substituted in the middle of replicase gene, and the others, pTPL3D:: $\Delta$6207 and pTPL3D:: $\Delta$6219, were deletion mutants made by deleting some parts of pseudoknot structures of the 3' noncoding region (NCR) of the virus. Progeny viruses generated from the four mutants were infectious on N. benthamiana plants with symptomless or mild mosaic symptom. Replication efficiency and viral product accumulations of four mutants were assessed by Northern and Western blot analyses on BY-2 protoplast cells. Accumulation of CP for the pTPL3D:: $\Delta$6207 and pTPL3D:: $\Delta$6219 were lower than that of other mutants and wild type virus. These data suggest that the 3'-NCR mutations contribute to the viral gene expression in host tissues, while mutants of replicase gene rather govern the symptom expression.

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