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31 results on '"Kwon, Tae-Jun"'

4. MBP-11901 Inhibits Tumor Growth of Hepatocellular Carcinoma through Multitargeted Inhibition of Receptor Tyrosine Kinases

Author

Park, Hyun Jin, primary, Choi, Garam, additional, Ha, Seongmin, additional, Kim, Yesl, additional, Choi, Min-Jin, additional, Kim, Minsup, additional, Islam, Md. Kamrul, additional, Chang, Yongmin, additional, Kwon, Tae-Jun, additional, Kim, Dongkyu, additional, Jang, Eunbee, additional, Kim, Tae Hwan, additional, Chang, Sha Joung, additional, and Kim, Yeoun-Hee, additional

Published
2022
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15. Evolutionarily conserved regulatory programs

Author

Kwon, Tae-Jun Andrew

Abstract

Despite the diversity of metazoans, common biochemical systems and structures can be found in distinct taxonomic groups. The development and formation of metazoan tissues and structures has been well researched, but their regulatory mechanisms are not understood well. To this end, we implemented bioinformatics tools regulatory mechanism analysis and applied them to study regulatory program conservation with an emphasis on muscle development. We first performed a genome-wide scan for muscle-specific cis-regulatory modules (CRMs) using three computational prediction programs. Based on the predictions, 339 candidate CRMs were tested in cell culture with NIH3T3 fibroblasts and C2C12 myoblasts for capacity to direct selective reporter gene expression to differentiated myotubes. A subset of 19 CRMs validated as functional in the assay. The rate of predictive success reveals striking limitations of computational CRM discovery. Motif-based methods performed no better than predictions based only on sequence conservation. Analysis of the properties of the functional sequences relative to inactive sequences identifies nucleotide sequence composition and ChIP-Seq evidence as important characteristics to incorporate in future methods for improved predictive specificity. In studying the transcriptional regulation, motif enrichment analysis of co-expressed genes is often employed to determine mediating transcription factors. We built oPOSSUM-3, a web-based software system for identification of enriched transcription factor binding sites (TFBS) and TFBS families in DNA sequences of co-expressed genes and sequences generated from high-throughput methods, such as ChIP-Seq. Validation of the system with known sets of published data demonstrates the capacity for oPOSSUM-3 to identify mediating TFs for co-regulated genes. Studies have shown that TF binding profiles tend to be highly conserved over long evolutionary distances. In large-scale public genome annotation projects, such as modENCODE, transcriptional regulation data is compiled for comparative genomics research. Using the oPOSSUM-3 system and published data, we performed comparative analyses of the regulatory programs across evolutionarily divergent species, including human, fruit fly, and nematode, and examined the extent of conservation in major regulatory programs. The thesis research provides new approaches to computational analysis of DNA sequences and insights into the analysis of transcription regulation across the phylogenetic spectrum.

Published
2011
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18. The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss

Author

Kwon, Tae-Jun, primary, Oh, Se-Kyung, additional, Park, Hong-Joon, additional, Sato, Osamu, additional, Venselaar, Hanka, additional, Choi, Soo Young, additional, Kim, SungHee, additional, Lee, Kyu-Yup, additional, Bok, Jinwoong, additional, Lee, Sang-Heun, additional, Vriend, Gert, additional, Ikebe, Mitsuo, additional, Kim, Un-Kyung, additional, and Choi, Jae Young, additional

Published
2014
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20. Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells

Author

Kwon, Tae-Jun, primary, Cho, Hyun-Ju, additional, Kim, Un-Kyung, additional, Lee, Eujin, additional, Oh, Se-Kyung, additional, Bok, Jinwoong, additional, Bae, Yong Chul, additional, Yi, Jun-Koo, additional, Lee, Jang Woo, additional, Ryoo, Zae-Young, additional, Lee, Sang Heun, additional, Lee, Kyu-Yup, additional, and Kim, Hwa-Young, additional

Published
2013
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30. Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome.

Author

Song, Mee Hyun, Kwon, Tae-Jun, Kim, Hui Ram, Jeon, Ju Hyun, Baek, Jeong-In, Lee, Won-Sang, Kim, Un-Kyung, and Choi, Jae Young

Subjects
*GENETIC mutation, *TREATMENT of deafness, *BRANCHIO-oto-renal syndrome, *MIDDLE ear surgery, *COCHLEAR implants, *MEDICAL rehabilitation, *EAST Asians, *DISEASES
Abstract

Background: Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation. Methods: The audiologic manifestations were reviewed in 10 patients with BOR/BO syndrome. The operative findings and hearing outcome were analyzed in patients who underwent middle ear surgeries. The modality and outcome of auditory rehabilitation were evaluated. Genetic analysis was performed for EYA1, SIX1, and SIX5 genes. Results: All patients presented with mixed hearing loss. Five patients underwent middle ear surgeries without successful hearing gain. Cochlear implantation performed in two patients resulted in significant hearing improvement. Genetic analysis revealed four novel EYA1 mutations and a large deletion encompassing the EYA1 gene. Conclusions: Auditory rehabilitation in BOR/BO syndrome should be individually tailored keeping in mind the high failure rate after middle ear surgeries. Successful outcome can be expected with cochlear implantations in patients with BOR/BO syndrome who cannot benefit from hearing aids. The novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population. [ABSTRACT FROM AUTHOR]

Published
2013
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31. Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Author

Park HJ, Cho HJ, Baek JI, Ben-Yosef T, Kwon TJ, Griffith AJ, and Kim UK

Subjects
China, Chromosomes, Human, Pair 7 genetics, Family, Genetic Linkage, Haplotypes, Humans, Korea, Pedigree, Asian People genetics, Founder Effect, Hearing Loss, Sensorineural genetics, Mutation, Receptors, Estrogen genetics
Abstract

Mutations in the DFNA5 gene are known to cause autosomal dominant non-syndromic hearing loss (ADNSHL). To date, five DFNA5 mutations have been reported, all of which were different in the genomic level. In this study, we ascertained a Korean family with autosomal dominant, progressive and sensorineural hearing loss and performed linkage analysis that revealed linkage to the DFNA5 locus on chromosome 7. Sequence analysis of DFNA5 identified a 3-bp deletion in intron 7 (c.991-15_991-13del) as the cause of hearing loss in this family. As the same mutation had been reported in a large Chinese family segregating DFNA5 hearing loss, we compared their DFNA5 mutation-linked haplotype with that of the Korean family. We found a conserved haplotype, suggesting that the 3-bp deletion is derived from a single origin in these families. Our observation raises the possibility that this mutation may be a common cause of autosomal dominant progressive hearing loss in East Asians.

Published
2010
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