• BMB Reports
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• 제39권5호
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• pp.537-545
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• 2006

CMTM/CKLFSF is a novel family of proteins linking chemokines and TM4SF. In humans, these proteins are encoded by nine genes, CKLF and CMTM1-8/CKLFSF1-8. Here we report the characteristics and expression profile of CMTM3/CKLFSF3. Human CMTM3/CKLFSF3 has a high sequence identity among various species and similar characteristics as its mouse and rat homologues. Established by results both of RT-PCR and Quantitative Real-time PCR, the gene is highly transcribed in testis, leukocytes and spleen. For further verification, we generated a polyclonal antibody against human CMTM3/CKLFSF3 and found that the protein is highly expressed in the testis and some cells of PBMCs. Therefore, CMTM3/CKLFSF3 is an evolutionarily conserved gene that may have important roles in the male reproductive system and immune system. Further studies are necessary to validate its functions in the two systems.

• 한국발생생물학회지:발생과생식
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• 제27권2호
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• pp.57-65
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• 2023

Kidney disease affects a significant portion of the global population, yet effective therapies are lacking despite advancements in identifying genetic causes. This limitation can be attributed to the absence of adequate in vitro models that accurately mimic human kidney disease, hindering targeted therapeutic development. However, the emergence of human induced pluripotent stem cells (PSCs) and the development of organoids using them have opened up a way to model kidney development and disease in humans, as well as validate the effects of new drugs. To fully leverage their capabilities in these fields, it is crucial for kidney organoids to closely resemble the structure and functionality of adult human kidneys. In this review, we aim to discuss the potential of using human PSCs or adult kidney stem cell-derived kidney organoids to model genetic kidney disease and renal cancer.

• BMB Reports
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• 제50권11호
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• pp.535-536
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• 2017

A novel approach has been used to identify functional interactions relevant to human disease. Using high-throughput human-yeast genetic interaction screens, a first draft of disease interactome was obtained. This was achieved by first searching for candidate human disease genes that confer toxicity in yeast, and second, identifying modulators of toxicity. This study found potentially disease-relevant interactions by analyzing the network of functional interactions and focusing on genes implicated in amyotrophic lateral sclerosis (ALS), for example. In the subsequent proof-of-concept study focused on ALS, similar functional relationships between a specific kinase and ALS-associated genes were observed in mammalian cells and zebrafish, supporting findings in human-yeast genetic interaction screens. Results of combined analyses highlighted MAP2K5 kinase as a potential therapeutic target in ALS.

• 대한약침학회지
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• 제14권2호
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• pp.81-91
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• 2011

Objectives & Methods: This suggestion was attempted to be elevated the recognition of common characteristics in disease. So, we performed to analyze the correlation of common cause of disease, characteristics of human body, and medical treatment. And the results are as follows. Results: 1. The cause of disease is consist of genetic factor, aging, habit, food of not good in health, weather, environment, deficit of the physical activity, stress and so on. 2. Generally, human has common and individual weakness. Individual weakness is appeared similar to the occurrence of volcano and lapse. 3. The correlation of disease and medical treatments is possible to explain using the quotation of the law of motion made by Isaac Newton, the great physicist. 4. When the process of the medical treatment was not progressed, the prognosis is determined by the correlation of the homeostasis(H') in human body and the homeostasis(H) of disease. 5. The prognosis of disease is determined by the relationship between the energy of disease(F) and medical treatment(F'). 6. The exact diagnosis is possible to predict the treatment sequence, and the facts that homeostasis in human body and disease, relationship between the energy of disease(F) and medical treatment(F'), action and reaction are important to determine the prognosis. 7. The careful observation of improving response and worsening action of disease becomes available for exact prognosis. Conclusion: The above described contents may be useful in clinical studies, and the concrete clinical reports about this will be made afterward.

• Genomics & Informatics
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• 제10권4호
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• pp.214-219
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• 2012

The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception－it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.

• BMB Reports
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• 제42권6호
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• pp.356-360
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• 2009

In the present study we have examined human-mouse homologous intronless disease and non-disease genes alongside their extent of sequence conservation, tissue expression, domain and gene ontology composition to get an idea regarding evolutionary and functional attributes. We show that selection has significantly discriminated between the two groups and the disease associated genes in particular exhibit lower $K_{a}$ and $K_{a}/K_{s}$ while $K_{s}$ although smaller is not significantly different. Our analyses suggest that majority of disease related intronless human genes have homology limited to eukaryotic genomes and their expression is localized. Also we observed that different classes of intronless disease related genes have experienced diverse selective pressures and are enriched for higher level functionality that is essentially needed for developmental processes in complex organisms. It is expected that these insights will enhance our understanding of the nature of these genes and also improve our ability to identify disease related intronless genes.

• 사상체질의학회지
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• 제15권2호
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• pp.1-8
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• 2003

1. Objects of Research This research is purposed to find role and treatment mind of Sasang constitutional medicine in human genome age, through summarizing recognition of human and etiology. treatment on diseases proposed in Sasang constitutional medicine 2. Methods of Research It was researched as bibliologically with Dong-mu's chief medical writings such as ${\ulcorner}Dongyi$ Soose Bowon(東醫壽世保元)${\lrcorner}$, ${\ulcorner}$Dongyi Soose Bowon Sasang Chongyun(東醫壽世保元四象草本卷${\lrcorner}$. 3. Results and Conclusions 1. The outlook on human of Sasang Constitutional Medicine was completed in the base on Confusianism and it recognized that human is consisted with congenital element based on 'Human nature-shape' and acquired element based on Knowledge-Acting. Dong-mu emphasised acquired element than inborn element. 2. Sasang Constitutional Medicine is thought that we ran overcome inborn limitation of each constitution through moral culture of aposteriori Knowledge-Acting. and that self-correction is methods which is applied to treatment of disease recovering Essential Qi of each constitution with moral culture of personality 3. Sasang Constitutional Medicine is recognizing Essential Qi by main standard that foretell prognosis of disease and emphasize recovery of Essential Qi through self-correction than way of 'Assisting-Good Qi' and 'Removig-Bad Qi' in treatment of disease. 4. Self-correction can be divided into non-herbal self-correction and herbal self-correction. Non-herbal self-correction is to control greed by aposteriori Knowledge-Acting and herbal self-correction is to recover Essential Qi by herb. 5. It is thought that the present constitutional disease is consisted by accumulating life habit nature of a disease of ordinary times, and Sasang Constitutional Medicine that present constitutional disease is treated through administration of life habit nature of a disease of ordinary times in Sasang Constitutional Medicine. 6. Treatment mind to correct oneself into Golden Mean through controlling Knowledge-Acting in Sasang Constitutional Medicine may get into important treatment guide of gene medicine age.

• BMB Reports
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• 제43권3호
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• pp.182-187
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• 2010

family (CMTM) is a novel family of proteins linking classical chemokines and the transmembrane 4 superfamily (TM4SF). Our earlier studies indicated several CMTM members (such as CKLF1 and CMTM2) have a secreted form. This is the first report of the secreted form of CMTM5-v1, the major RNA splicing form of CMTM5, which is produced as small vesicles (<100 nm diameter) and floats at a peak density of 1.19 g/ml on continuous sucrose gradients. CMTM5-v1 has no obvious co-localization with CD63 or Golgi complex. In addition, brefeldin A but not wortmannin can inhibit the secretion of CMTM5-v1. Our results suggest that CMTM5-v1 might be secreted via a different vesicle-mediated secretory pathway, which will be helpful for the studies of vesicle-mediated secretion and MARVEL domain-containing proteins.

• 산업경영시스템학회지
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• 제32권4호
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• pp.215-222
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• 2009

Human voice reacts very sensitively to human's minute physical condition. For instance, human voice disorders affect patients profoundly especially in the case of Parkinson's disease. Acoustic tools such as MDVP, can function as an equipment that measures various voice in different objects. Many different approaches have been applied for analyzing the voice disorders for diagnosis of Parkinson's disease. According to the voice data of suspected Parkinson's patients from UCI Machine Learning Repository, it is reported to have 23 people with Parkinson's disease and 8 healthy people. Applying Mahalanobis Taguchi System (MTS) for diagnosis of Parkinson's disease, the correct diagnosis performance is compared to previous research results.

• IMMUNE NETWORK
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• 제11권5호
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• pp.227-244
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• 2011

MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of miRNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress.