• Title/Summary/Keyword: Human genetics

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Current Status of Xenotransplantation - A Review

  • Lee, J.H.;Moran, C.
    • Asian-Australasian Journal of Animal Sciences
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    • v.14 no.10
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    • pp.1497-1504
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    • 2001
  • There is emerging interest in using xenotransplantation of porcine cells, tissues and organs for treatment of human illness. This article reviews the current status of xenotransplantation, with particular emphasis on the physiological and immunological barriers to xenotransplantation and genetic manipulations to overcome xenograft rejection. Preliminary success in xenotransplantation therapy for human Parkinson's disease using porcine foetal brain cells is described. Finally the zoonotic dangers of porcine xenotransplantation, most particularly porcine endogenous retroviruses (PERVs), are discussed.

Mitochondrial DNA polymorphism in the Cheju horses (제주마의 mitochondrial DNA 다형(多型)의 분석(分析))

  • Han, Bang-keun;Chang, Deuk-jee;Tsuchida, Shuichi;Ikemoto, Shigenori
    • Korean Journal of Veterinary Research
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    • v.34 no.2
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    • pp.243-247
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    • 1994
  • As a result of the detection of mitochondrial DNA(mtDNA) polymorphism to Thoroughbred and Percheron using 14 restriction enzymes, mtDNA polymorphism of Cheju horse observed in the Bam HI and Sac I. Only in both restriction enzymes two types were classified as of A type, which is high expression frequency and B type, which is low expression frequency. In the other 12 restriction enzymes mtDNA polymorphism was not detected. On the basis of this information mtDNA polymorphism of Cheju horse was examined but was not observed the polymorphism and only A type was expressed both Bam HI and Sac I restriction enzymes. Through this study Cheju horse was demonstrated that lower genetic variation was expressed from the detection of mtDNA polymorphism.

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pH Response Pathways in Fungi: Adapting to Host-derived and Environmental Signals

  • Selvig, Kyla;Alspaugh, J. Andrew
    • Mycobiology
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    • v.39 no.4
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    • pp.249-256
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    • 2011
  • Microorganisms are significantly affected when the ambient pH of their environment changes. They must therefore be able to sense and respond to these changes in order to survive. Previous investigators have studied various fungal species to define conserved pH-responsive signaling pathways. One of these pathways, known as the Pal/Rim pathway, is activated in response to alkaline pH signals, ultimately targeting the PacC/Rim101 transcription factor. Although the central signaling components are conserved among divergent filamentous and yeast-like fungi, there is some degree of signaling specificity between fungal species. This specificity exists primarily in the downstream transcriptional targets of this pathway, likely allowing differential adaptation to species-specific environmental niches. In this review, the role of the Pal/Rim pathway in fungal pH response is discussed. Also highlighted are functional differences present in this pathway among human fungal pathogens, differences that allow these specialized microorganisms to survive in the various micro-environments of the infected human host.

Vascular Endothelial Growth Factor Upregulates Follistatin in Human Umbilical Vein Endothelial Cells

  • Oh, In-Suk;Kim, Hwan-Gyu
    • Biotechnology and Bioprocess Engineering:BBE
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    • v.9 no.3
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    • pp.201-206
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    • 2004
  • Vascular endothelial growth factor (VEGF), plays a key role in angiogenesis. Many endogenous factors can affect angiogenesis in endothelial cells. VEGF is known to be a strong migration, sprouting, survival, and proliferation factor for endothelial cells during angiogenesis in endothelial cells. Searching for novel genes involved in VEGF signaling during angiogenesis, we carried out differential display polymerase chain reaction on RNA from VEGF-stimulated human umbilical vein endothelial cells (HUVECs). In this study, follistatin (FS) differentially expressed in VEGF-treated HUVECs, compared with controls. Addition of VEGF (10ng/L) produced an approximately 11.8-fold increase of FS mRNA. F5 or VEGF produced approximately 1.8- or 2.9-fold increases, respectively, in matrix metalloproteinase-2 (MMP-2) secretion for 12h, compared to the addition of a control buffer. We suggest that VEGF may affect the angiogenic effect of HUVECs, through a combination of the direct effects of VEGF itself, and the indirect effects mediated via induction of FS in vitro.

Correlation between chromosome abnormalities and genomic imprinting in developing human - 1) Frequent biallelic expression of insulin-like growth factor II (IGF2) in gynogenetic Ovarian Teratomas: Uncoupling of H19 and IGF2 imprinting

  • Choi, Bo-Hwa;Lee, In-Hwan;Chun, Hyo-Jin;Kang, Shin-Sung;Chang, Sung-Ik
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.41-47
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    • 1998
  • Human uniparental gestations such as gynogenetic ovarian teratomas provide a model to evaluate the integrity of parent-specific gene expression - i.e. imprinting - in the absence of a complementary parental genetic contribution. The few imprinted genes characterized so far include the insulin-like growth factor-2 gene (IGF2) coding for a fetal growth factor and H19 gene whose normal function is unknown but it is likely to act as an mRNA. IGF2 is expressed by the paternal allele and H19 by the maternal allele. This reciprocal expression is quite interesting because both H19 and IGF2 genes are located close to each other on chromosome 11p15.5. In situ RNA hybridization analysis has shown variable expression of the H19 and IGF2 alleles according to the tissue origin in 11 teratomas. Especially, Skin, derivative of ectoderm, is expressed conspicuously. We examined imprinting of H19 and IGF2 in teratomas using PCR and RT-PCR of exonic polymorphism. H19 and IGF2 transcript could be expressed either biallelically or monoallelically in the teratomas. Biallelic expression (i.e., loss of imprinting) of IGF2 occurred in 5 out of 6 mature teratomas and 1 out of 1 immature teratoma. Biallelic expression of H19 occurred in 4 out of 10 mature teratomas and 1 out of 1 immature teratoma. Expression levels of H19 and IGF2 transcript using the semi-quantitative RT-PCR had no relation between monoallelic and biallelic expression. Moreover, IGF2 biallelic expression did not affect allele-specificity or levels of H19 expression. These results demonstrate that both genes, H19 and IGF2, can be imprinted, expressed and regulated independently and individually of each other in ovarian teratoma.

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Research Trend of Genetics in Oncology Nursing: Based on Text Network Analysis (유전종양간호 관련 연구경향: 텍스트 네트워크 분석을 중심으로)

  • Lee, Mijin;Oh, Soonyoung;Choi, Kyungsook
    • The Journal of the Korea Contents Association
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    • v.18 no.2
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    • pp.47-56
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    • 2018
  • The aim of this study is investigate the research trends by analyzing the researches related to Korean and international genetics in oncology nursing. We conducted a text network analysis focusing on the key words presented in the abstracts of papers published in journals related to genetics in oncology nursing. Nurse, Cancer, Genetic, Patient, Knowledge, Care, and Genetic Test were identified as keywords and centralized keywords. As a result of studying research trends over time, researches including keywords such as information, care, and knowledge have increased since the completion of the Human Genome Project in 2003. Key words classified through the meta paradigm of nursing were health, nursing, human, environment order. This study is meaningful in that it can be used to identify trends in tumor genetic nursing research and to set the direction of development of nursing intervention for hereditary cancer patients.

Next-generation gene targeting in the mouse for functional genomics

  • Gondo, Yoichi;Fukumura, Ryutaro;Murata, Takuya;Makino, Shigeru
    • BMB Reports
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    • v.42 no.6
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    • pp.315-323
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    • 2009
  • In order to elucidate ultimate biological function of the genome, the model animal system carrying mutations is indispensable. Recently, large-scale mutagenesis projects have been launched in various species. Especially, the mouse is considered to be an ideal model to human because it is a mammalian species accompanied with well-established genetic as well as embryonic technologies. In 1990', large-scale mouse mutagenesis projects firstly initiated with a potent chemical mutagen, N-ethyl-N-nitrosourea (ENU) by the phenotype-driven approach or forward genetics. The knockout mouse mutagenesis projects with trapping/conditional mutagenesis have then followed as Phase II since 2006 by the gene-driven approach or reverse genetics. Recently, the next-generation gene targeting system has also become available to the research community, which allows us to establish and analyze mutant mice carrying an allelic series of base substitutions in target genes as another reverse genetics. Overall trends in the large-scale mouse mutagenesis will be reviewed in this article particularly focusing on the new advancement of the next-generation gene targeting system. The drastic expansion of the mutant mouse resources altogether will enhance the systematic understanding of the life. The construction of the mutant mouse resources developed by the forward and reverse genetic mutagenesis is just the beginning of the annotation of mammalian genome. They provide basic infrastructure to understand the molecular mechanism of the gene and genome and will contribute to not only basic researches but also applied sciences such as human disease modelling, genomic medicine and personalized medicine.

ADAM and ADAMTS family proteins and their role in the colorectal cancer etiopathogenesis

  • Przemyslaw, Leszczynski;Boguslaw, Hendrich Andrzej;Elzbieta, Szmida;Malgorzata, Sasiadek Maria
    • BMB Reports
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    • v.46 no.3
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    • pp.139-150
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    • 2013
  • The ADAM and ADAMTS families, also called adamalysins belong to an important group of extracellular matrix proteins. The ADAMs family belong to both the transmembrane and secreted proteins, while ADAMTS family only contains secreted forms. Adamalysins play an important role in the cell phenotype regulation via their activities in signaling pathways, cell adhesion and migration. The human proteome contains 21 ADAM, and 19 ADAMTS proteins, which are involved in extracellular matrix remodeling, shedding of various substrates such as: adhesion ligands, growth factors, their receptors and diverse cytokines. Recent studies provide evidence that adamalysins play a crucial role in colorectal cancer (CRC) etiopathogenesis. It seems possible that adamalysins might be used as CRC prediction markers or potential pharmaceutical targets.

Antimicrobial and Antitumor Photodynamic Effects of Phleichrome from the Phytopathogenic Fungus Cladosporium Phlei

  • So, Kum-Kang;Chun, Jeesun;Kim, Dae-Hyuk
    • Mycobiology
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    • v.46 no.4
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    • pp.448-451
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    • 2018
  • Fungal perylenequinones have photodynamic activity and are promising photosensitizers for photodynamic therapy (PDT). Here, we investigated the bactericidal and antitumor activities of phleichrome from the fungal perylenequinone family in vitro. Photodynamic bactericidal activity of phleichrome was analyzed by agar-well diffusion method under dark and illuminated conditions. The photodynamic antitumor activity of phleichrome was analyzed in MCF-7, HeLa, SW480, and HepG2 human cancer cell lines using in vitro cytotoxicity assays. Photodynamic bactericidal activities against Gram-negative and Gram-positive bacteria were species-specific. Antitumor activity against all tumor cell lines increased under the illuminated condition. Depending on the results of the analyses, Phleichrome has potential for further drug development related to its antibacterial and antitumor activities.