• Title/Summary/Keyword: Point mutation

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The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea

  • Hwang, In-Ok;Lee, Eun-Sil
    • Neonatal Medicine
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    • v.18 no.1
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    • pp.143-147
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    • 2011
  • Argininosuccinic aciduria (ASAuria) is a rare autosomal recessive urea cycle disorder. Neonatal presentation of ASAuria is the most common form. It is characterized by lethargy, feeding intolerance, decreased consciousness, and coma after 24 to 72 hours of birth. We describe a rare case of ASAuria in a female neonate who presented with severe hyperammonemia, a typical characteristic of urea cycle disorders. This patient's diagnosis was confirmed by biochemical analyses, and we found that the patient had a point mutation of the argininosuccinate lyase gene, which was homozygous for a novel 556C>T substitution. We have never seen the neonatal form of ASAuria in Korea. Therefore, this is the first report of neonatal onset ASAuria in Korea.

Function of Constitutively Activating Lutropin/Choriogonadotropin Receptor (지속적으로 발현되는 융모성 성선자극호르몬 수용체의 기능)

  • Min, K. S.
    • Korean Journal of Animal Reproduction
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    • v.24 no.1
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    • pp.41-47
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    • 2000
  • Gonadotropin receptors are members of the seven-transmembrane (TM) receptor family, Point mutations in the lutropin/choriogonadotropin receptor (LH/CGR) have been shown to cause constitutive activation which results in precocious puberty in affected males, We introduced one of the mutation, D556Y, into the LH/CG receptor and the same high affinity binding mutant (D556Y) receptor clone cell for wild type LH/CGR (LH/CGR-wt) was chosen for further analysis, In contrast to cells expressing LH/CGR-wt, it was demonstrated that the mutant receptor exhibited markedly increased basal cAMP production in the absence of agonist, suggesting that autonomous Leydig cell activity in familial male-precocious puberty (FMPP) is caused by a constitutively activating LH/CGR.

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Oxidation of extracellular cysteines by mercury chloride reduces TRPV1 activity in rat dorsal root ganglion neurons

  • Jin, Yun-Ju;Park, Jin-Young;Kim, Jun;Kwak, Ji-Yeon
    • Animal cells and systems
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    • v.15 no.3
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    • pp.181-187
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    • 2011
  • Transient receptor potential vanilloid type 1 (TRPV1) receptor plays an important role as a molecular detector of noxious signals in primary sensory neurons. Activity of TRPV1 can be modulated by the change in the environment such as redox state and extracellular cations. In the present study, we investigated the effect of the mercury chloride ($HgCl_2$) on the activity of TRPV1 in rat dorsal root ganglia (DRG) neurons using whole-cell patch clamp technique. Extracellular $HgCl_2$ reversibly reduced the magnitudes of capsaicin-activated currents ($I_{cap}$) in DRG neurons in a dose-dependent manner. The blocking effect of $HgCl_2$ was prevented by pretreatment with the reducing agent dithiothreitol (DTT). Inhibition of $I_{cap}$ by $HgCl_2$ was abolished by point mutation of individual cysteine residues located on the extracellular surface of TRPV1. These results suggest that three extracellular cysteines of TRPV1, Cys616, Cys634 and Cys621, are responsible for the oxidative modulation of $I_{cap}$ by $HgCl_2$.

Signal transfduction pathways for infection structure formation in the rice blast fungus, Magnaporthe grisea

  • Lee, Yong-Hwan;Khang, Chang-Hyun
    • Proceedings of the Botanical Society of Korea Conference
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    • 1999.07a
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    • pp.41-44
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    • 1999
  • Magnaporthe grisea (Hebert) Barr (anamorph: Pyricularia grisea) is a typical heterothallic Ascomycete and the causal agent of rice blast, one of the most destructive diseases on rice (Oryza sativa L.) worldwide. The interactions between cells of the pathogen and those of the host involve a complex of biological influences which can lead to blast disease. The early stages of infection process in particular may be viewed as a sequence of discrete and critical events. These include conidial attachment, gemination, and the formation of an appressorium, a dome-shaped and melanized infection structure. Disruption of this process at any point will result in failure of the pathogen to colonize host tissues. This may offer a new avenue for developing innovative crop protection strategies. To recognize and capture such opportunities, understanding the very bases of the pathogenesis at the cellular and molecular level is prerequisite. Much has been learned about environmental cues and endogenous signaling systems for the early infection-related morphogenesis in M. grisea during last several years. The study of signal transduction system in phytopathogenic filamentous fungi offers distinct advantages over traditional mammalian systems. Mammalian systems often contain multiple copies of important genes active in the same tissue under the same physiological processes. Functional redundancy, alternate gene splicing, and specilized isoforms make defining the role of any single gene difficult. Fungi and animals are closely related kingdoms [3], so inferences between these organisms are often justified. For many genes, fungi frequently possess only a single copy, thus phenotype can be attributed directly to the mutation or deletion of any particular gene of interest.

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북한산 국립공원의 식물상

  • 이영노
    • Proceedings of the Botanical Society of Korea Conference
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    • 1985.08b
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    • pp.19-22
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    • 1985
  • Magnaporthe grisea (Hebert) Barr (anamorph: Pyricularia grisea) is a typical heterothallic Ascomycete and the causal agent of rice blast, one of the most destructive diseases on rice (Oryza sativa L.) worldwide. The interactions between cells of the pathogen and those of the host involve a complex of biological influences which can lead to blast disease. The early stages of infection process in particular may be viewed as a sequence of discrete and critical events. These include conidial attachment, gemination, and the formation of an appressorium, a dome-shaped and melanized infection structure. Disruption of this process at any point will result in failure of the pathogen to colonize host tissues. This may offer a new avenue for developing innovative crop protection strategies. To recognize and capture such opportunities, understanding the very bases of the pathogenesis at the cellular and molecular level is prerequisite. Much has been learned about environmental cues and endogenous signaling systems for the early infection-related morphogenesis in M. grisea during last several years. The study of signal transduction system in phytopathogenic filamentous fungi offers distinct advantages over traditional mammalian systems. Mammalian systems often contain multiple copies of important genes active in the same tissue under the same physiological processes. Functional redundancy, alternate gene splicing, and specilized isoforms make defining the role of any single gene difficult. Fungi and animals are closely related kingdoms [3], so inferences between these organisms are often justified. For many genes, fungi frequently possess only a single copy, thus phenotype can be attributed directly to the mutation or deletion of any particular gene of interest.

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Current perspectives on atypical pneumonia in children

  • Shim, Jung Yeon
    • Clinical and Experimental Pediatrics
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    • v.63 no.12
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    • pp.469-476
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    • 2020
  • The major pathogens that cause atypical pneumonia are Mycoplasma pneumoniae, Chlamydophila pneumoniae, and Legionella pneumophila. Community-acquired pneumonia (CAP) caused by M. pneumoniae or C. pneumoniae is common in children and presents as a relatively mild and self-limiting disease. CAP due to L. pneumophila is very rare in children and progresses rapidly, with fatal outcomes if not treated early. M. pneumoniae, C. pneumoniae, and L. pneumophila have no cell walls; therefore, they do not respond to β-lactam antibiotics. Accordingly, macrolides, tetracyclines, and fluoroquinolones are the treatments of choice for atypical pneumonia. Macrolides are the first-line antibiotics used in children because of their low minimum inhibitory concentrations and high safety. The incidence of pneumonia caused by macrolide-resistant M. pneumoniae that harbors point mutations has been increasing since 2000, particularly in Korea, Japan, and China. The marked increase in macrolide-resistant M. pneumoniae pneumonia (MRMP) is partly attributed to the excessive use of macrolides. MRMP does not always lead to clinical nonresponsiveness to macrolides. Furthermore, severe complicated MRMP responds to corticosteroids without requiring a change in antibiotic. This implies that the hyper-inflammatory status of the host can induce clinically refractory pneumonia regardless of mutation. Empirical macrolide therapy in children with mild to moderate CAP, particularly during periods without M. pneumoniae epidemics, may not provide additional benefits over β-lactam monotherapy and can increase the risk of MRMP.

Isovitexin Protects Mice from Methicillin-Resistant Staphylococcus aureus-Induced Pneumonia by Targeting Sortase A

  • Tian, Lili;Wu, Xinliang;Yu, Hangqian;Yang, Fengying;Sun, Jian;Zhou, Tiezhong;Jiang, Hong
    • Journal of Microbiology and Biotechnology
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    • v.32 no.10
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    • pp.1284-1291
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    • 2022
  • The rise of methicillin-resistant Staphylococcus aureus (MRSA) has resulted in significant morbidity and mortality, and clinical treatment of MRSA infections has become extremely difficult. Sortase A (SrtA), a virulence determinant that anchors numerous virulence-related proteins to the cell wall, is a prime druggable target against S. aureus infection due to its crucial role in the pathogenicity of S. aureus. Here, we demonstrate that isovitexin, an active ingredient derived from a variety of traditional Chinese medicines, can reversibly inhibit SrtA activity in vitrowith a low dose (IC50=24.72 ㎍/ml). Fluorescence quenching and molecular simulations proved the interaction between isovitexin and SrtA. Subsequent point mutation experiments further confirmed that the critical amino acid positions for SrtA binding to isovitexin were Ala-92, Ile-182, and Trp-197. In addition, isovitexin treatment dramatically reduced S. aureus invasion of A549 cells. This study shows that treatment with isovitexin could alleviate pathological injury and prolong the life span of mice in an S. aureus pneumonia model. According to our research, isovitexin represents a promising lead molecule for the creation of anti-S. aureus medicines or adjuncts.

A many-objective evolutionary algorithm based on integrated strategy for skin cancer detection

  • Lan, Yang;Xie, Lijie;Cai, Xingjuan;Wang, Lifang
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.16 no.1
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    • pp.80-96
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    • 2022
  • Nowadays, artificial intelligence promotes the rapid development of skin cancer detection technology, and the federated skin cancer detection model (FSDM) and dual generative adversarial network model (DGANM) solves the fragmentation and privacy of data to a certain extent. To overcome the problem that the many-objective evolutionary algorithm (MaOEA) cannot guarantee the convergence and diversity of the population when solving the above models, a many-objective evolutionary algorithm based on integrated strategy (MaOEA-IS) is proposed. First, the idea of federated learning is introduced into population mutation, the new parents are generated through sub-populations employs different mating selection operators. Then, the distance between each solution to the ideal point (SID) and the Achievement Scalarizing Function (ASF) value of each solution are considered comprehensively for environment selection, meanwhile, the elimination mechanism is used to carry out the select offspring operation. Eventually, the FSDM and DGANM are solved through MaOEA-IS. The experimental results show that the MaOEA-IS has better convergence and diversity, and it has superior performance in solving the FSDM and DGANM. The proposed MaOEA-IS provides more reasonable solutions scheme for many scholars of skin cancer detection and promotes the progress of intelligent medicine.

Monitoring antimalarial drug-resistance markers in Somalia

  • Abdifatah Abdullahi Jalei;Kesara Na-Bangchang;Phunuch Muhamad;Wanna Chaijaroenkul
    • Parasites, Hosts and Diseases
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    • v.61 no.1
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    • pp.78-83
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    • 2023
  • The use of an effective antimalarial drug is the cornerstone of malaria control. However, the development and spread of resistant Plasmodium falciparum strains have placed the global eradication of malaria in serious jeopardy. Molecular marker analysis constitutes the hallmark of the monitoring of Plasmodium drug-resistance. This study included 96 P. falciparum PCR-positive samples from southern Somalia. The P. falciparum chloroquine resistance transporter gene had high frequencies of K76T, A220S, Q271E, N326S, and R371I point mutations. The N86Y and Y184F mutant alleles of the P. falciparum multidrug resistance 1 gene were present in 84.7 and 62.4% of the isolates, respectively. No mutation was found in the P. falciparum Kelch-13 gene. This study revealed that chloroquine resistance markers are present at high frequencies, while the parasite remains sensitive to artemisinin (ART). The continuous monitoring of ART-resistant markers and in vitro susceptibility testing are strongly recommended to track resistant strains in real time.

Image Dehazing Enhancement Algorithm Based on Mean Guided Filtering

  • Weimin Zhou
    • Journal of Information Processing Systems
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    • v.19 no.4
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    • pp.417-426
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    • 2023
  • To improve the effect of image restoration and solve the image detail loss, an image dehazing enhancement algorithm based on mean guided filtering is proposed. The superpixel calculation method is used to pre-segment the original foggy image to obtain different sub-regions. The Ncut algorithm is used to segment the original image, and it outputs the segmented image until there is no more region merging in the image. By means of the mean-guided filtering method, the minimum value is selected as the value of the current pixel point in the local small block of the dark image, and the dark primary color image is obtained, and its transmittance is calculated to obtain the image edge detection result. According to the prior law of dark channel, a classic image dehazing enhancement model is established, and the model is combined with a median filter with low computational complexity to denoise the image in real time and maintain the jump of the mutation area to achieve image dehazing enhancement. The experimental results show that the image dehazing and enhancement effect of the proposed algorithm has obvious advantages, can retain a large amount of image detail information, and the values of information entropy, peak signal-to-noise ratio, and structural similarity are high. The research innovatively combines a variety of methods to achieve image dehazing and improve the quality effect. Through segmentation, filtering, denoising and other operations, the image quality is effectively improved, which provides an important reference for the improvement of image processing technology.