연구실적

2020년

  • Lee HS, Kim YR, Lee IK, Kim UK, Baek JI, Lee KY. KL1333, a derivative of β-lapachone, protects against cisplatin-induced ototoxicity in mouse cochlear cultures. Biomed Pharmacother. 2020; 126:110068.
  • Park JM, Lee B, Kim JH, Park SY, Yu J, Kim UK, Park JS. An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). Sci Rep. 2020; 10(1):3295.

2019년

  • Kim MA, Kim SH, Ryu N, Ma JH, Kim YR, Jung J, Hsu CJ, Choi JY, Lee KY, Wangemann P, Bok J, Kim UK. Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing. Theranostics. 2019; 9(24):7184-7199.
  • Kim YR, Baek JI, Kim SH, Kim MA, Lee B, Ryu N, Kim KH, Choi DG, Kim HM, Murphy MP, Macpherson G, Choo YS, Bok J, Lee KY, Park JW, and Kim UK. Therapeutic potential of the mitochondria-targeted antioxidant MitoQ in mitochondrial-ROS induced sensorineural hearing loss caused by Idh2 deficiency. Redox Biol. 2019; 20:544-555.
  • Ryu N, Kim MA, Choi DG, Kim YR, Sonn JK, Lee KY, and Kim UK. CRISPR/Cas9-mediated genome editing of splicing mutation causing congenital hearing loss. Gene. 2019; 703, 83-90.
  • Ankamreddy H, Min H, Kim JY, Yang X, Cho ES, Kim UK, and Bok J. Region-specific endodermal signals direct neural crest cells to form the three middle ear ossicles. 2019; 146(2)
  • Kim YR, Do JM, Kim KH, Stoica AR, Jo SW, Kim UK, and Yoon HS. C-phycocyanin from Limnothrix Species KNUA002 Alleviates Cisplatin-Induced Ototoxicity by Blocking the Mitochondrial Apoptotic Pathway in Auditory Cells. Mar Drugs. 2019; 17(4).
  • Kim MA, Ryu N, Kim HM, Kim YR, Lee B, Kwon TJ, Bok J, and Kim UK. Targeted Gene Delivery into the Mammalian Inner Ear Using Synthetic Serotypes of Adeno-Associated Virus Vectors. Mol Ther Methods Clin Dev. 2019; 13:197-204.
  • Lee B, Kim YR, Kim SJ, Goh SH, Kim SK, Baek JI, Kim UK, and Lee KY. Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss. Hum Mutat. 2019; 40(8):1172-1180.
  • Lee B, Choi DG, Chun BY, Oh EH, Lee YJ, Kim UK, and Park JS. A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. Gene. 2019; 705:177-180.

2018년

  • Kim KH, Lee B, Kim YR, Kim MA, Ryu N, Jung DJ, Kim UK, Baek JI, and Lee KY. Evaluating protective and therapeutic effects of alpha-lipoic acid on cisplatin-induced ototoxicity. Cell Death Dis. 2018;9(8):827.
  • Ryu N, Kim MA, Park D, Lee B, Kim YR, Kim KH, Baek JI, Kim WJ, Lee KY, and Kim UK. Effective PEI-mediated delivery of CRISPR-Cas9 complex for targeted gene therapy. Nanomedicine. 2018;14(7):2095-102.
  • Lee B, Beak JI et al., Exocyst complex member EXOC5 is required for survival of hair cells and spiral ganglion neurons and maintenance of hearing. Molecular neurobiology. 2018

2017년

  • Kang TH, Baek JI, Sagong B, Park HJ, Park CI, Lee KY, Kim UK. A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss. Genes Genet Syst. 2016;(91)289-292
  • Sagong B, Baek JI, Lee KY, Kim UK. A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct. Clin Exp Otorhinolaryngol. 2017;10(1):50-55.
  • Ryu, N., et al., Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing. Gene, 2017. 627: p. 233-238.
  • Lee, S., et al., Spatiotemporal expression patterns of clusterin in the mouse inner ear. Cell Tissue Res, 2017.
  • Kim, Y.R., et al., Protective effects of 1,2,3-triazole derivative KPR-A020 against cisplatin-induced ototoxicity in murine cochlear cultures. Int J Pediatr Otorhinolaryngol, 2017. 96: p. 59-64.
  • Kim, Y.R., et al., Expression patterns of members of the isocitrate dehydrogenase gene family in murine inner ear. Biotech Histochem, 2017: p. 1-9.

2016년

  • Sagong B, Baek JI, Bok J, Lee KY, Kim UK. Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. Int J Pediatr Otorhinolaryngol. 2016;80:78-81.
  • Ryu N, Sagong B, Park HJ, et al. Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans. BMC Med Genet. 2016;17:6.
  • Lee B, Duz MB, Sagong B, et al. Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome. Gene. 2016;576(2 Pt 2):776-781.
  • Kim HR, Oh SK, Lee ES, et al. The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. Hum Genet. 2016;135(3):287-298.
  • Kim YR, Kim MA, Cho HJ, et al. Galangin prevents aminoglycoside-induced ototoxicity by decreasing mitochondrial production of reactive oxygen species in mouse cochlear cultures. Toxicol Lett. 2016;245:78-85.
  • Kim MA, Cho HJ, Bae SH, et al. Methionine Sulfoxide Reductase B3-Targeted In Utero Gene Therapy Rescues Hearing Function in a Mouse Model of Congenital Sensorineural Hearing Loss. Antioxid Redox Signal. 2016;24(11):590-602.
  • Sagong B, Seo YJ, Lee HJ, Kim MJ, Kim UK, Moon IS. A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma. Fam Cancer. 2016;15(4):601-606.
  • Kim SJ, Lee S, Park HJ, et al. Genetic association of MYH genes with hereditary hearing loss in Korea. Gene. 2016;591(1):177-182.
  • Kim SJ, Park HJ, Sagong B, et al. Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss. Genes & Genomics. 2016;38(10):961-966.

2015년

  • Kim YR, Kim MA, Sagong B, et al. Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. PLoS One. 2015;10(3):e0119443.
  • Oh SK, Baek JI, Weigand KM, et al. A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. Eur J Hum Genet. 2015;23(5):639-645.
  • Oh SK, Shin JO, Baek JI, et al. Pannexin 3 is required for normal progression of skeletal development in vertebrates. FASEB J. 2015;29(11):4473-4484.

2014년

  • Kim MA, Kim YR, Sagong B, et al. Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. PLoS One. 2014;9(4):e95646.
  • Kim J, Cho HJ, Sagong B, et al. Alpha-lipoic acid protects against cisplatin-induced ototoxicity via the regulation of MAPKs and proinflammatory cytokines. Biochem Biophys Res Commun. 2014;449(2):183-189.
  • Kim HR, Song MH, Kim MA, et al. Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome. Mol Biol Rep. 2014;41(7):4321-4327.
  • Kwon TJ, Cho HJ, Kim UK, et al. Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells. Hum Mol Genet. 2014;23(6):1591-1601.
  • Song MH, Shin JW, Park HJ, et al. Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. Laryngoscope. 2014;124(5):E194-202.
  • Kwon TJ, Kim DB, Bae JW, et al. Molecular cloning, characterization, and expression of pannexin genes in chicken. Poult Sci. 2014;93(9):2253-2261.
  • Jung DJ, Han M, Jin SU, et al. Functional mapping of the auditory tract in rodent tinnitus model using manganese-enhanced magnetic resonance imaging. Neuroimage. 2014;100:642-649.
  • Kwon TJ, Oh SK, Park HJ, et al. The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss. Open Biol. 2014;4(7).
  • Park MK, Sagong B, Lee JD, et al. A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. Int J Pediatr Otorhinolaryngol. 2014;78(11):1996-1999.
  • Bae SH, Robertson NG, Cho HJ, et al. Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder. Hum Mutat. 2014;35(12):1506-1513.
  • Kwon TJ, Oh SK, Kim YR, et al. Methionine sulfoxide reductase A, B1 and B2 are likely to be involved in the protection against oxidative stress in the inner ear. Cells Tissues Organs. 2014;199(4):294-300.
  • Song HS, Jin HJ, Ahn SR, et al. Bioelectronic tongue using heterodimeric human taste receptor for the discrimination of sweeteners with human-like performance. ACS Nano. 2014;8(10):9781-9789.
  • Lee HJ, Jung J, Shin JW, et al. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clin Genet. 2014;86(3):270-275.
  • Sagong B, Bae JW, Rhyu MR, Kim UK, Ye MK. Multiplex minisequencing screening for PTC genotype associated with bitter taste perception. Mol Biol Rep. 2014;41(3):1563-1567.
  • Sagong B, Jung DJ, Baek JI, et al. Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. Ann Clin Lab Sci. 2014;44(4):476-483.
  • Bae, S.H., Robertson, N.G., Cho, H.J., Morton, C.C., Jung, D.J., Baek, J.I., Choi, S.Y., Lee, J., Lee, K.Y., and Kim, U.K., Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder. Hum Mutat, 2014. 35(12): p. 1506-13.
  • Jung, D.J., Han, M., Jin, S.U., Lee, S.H., Park, I., Cho, H.J., Kwon, T.J., Lee, H.J., Cho, J.H., Lee, K.Y., and Chang, Y., Functional mapping of the auditory tract in rodent tinnitus model using manganese-enhanced magnetic resonance imaging. Neuroimage, 2014. 100: p. 642-9.
  • Kim, H.R., Song, M.H., Kim, M.A., Kim, Y.R., Lee, K.Y., Sonn, J.K., Lee, J., Choi, J.Y., and Kim, U.K., Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome. Mol Biol Rep, 2014.
  • Kim, J., Cho, H.J., Sagong, B., Kim, S.J., Lee, J.T., So, H.S., Lee, I.K., Kim, U.K., and Lee, K.Y., Alpha-lipoic acid protects against cisplatin-induced ototoxicity via the regulation of MAPKs and proinflammatory cytokines. Biochem Biophys Res Commun, 2014.
  • Kim, M.A., Kim, Y.R., Sagong, B., Cho, H.J., Bae, J.W., Kim, J., Lee, J., Park, H.J., Choi, J.Y., Lee, K.Y., and Kim, U.K., Genetic analysis of genes related to tight junction function in the korean population with non-syndromic hearing loss. PLoS One, 2014. 9(4): p. e95646.
  • Kwon, T.J., Cho, H.J., Kim, U.K., Lee, E., Oh, S.K., Bok, J., Bae, Y.C., Yi, J.K., Lee, J.W., Ryoo, Z.Y., Lee, S.H., Lee, K.Y., and Kim, H.Y., Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells. Hum Mol Genet, 2014.
  • Kwon, T.J., Kim, D.B., Bae, J.W., Sagong, B., Choi, S.Y., Cho, H.J., Kim, U.K., and Lee, K.Y., Molecular cloning, characterization, and expression of pannexin genes in chicken. Poult Sci, 2014. 93(9): p. 2253-61.
  • Kwon, T.J., Oh, S.K., Park, H.J., Sato, O., Venselaar, H., Choi, S.Y., Kim, S., Lee, K.Y., Bok, J., Lee, S.H., Vriend, G., Ikebe, M., Kim, U.K., and Choi, J.Y., The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss. Open Biol, 2014. 4(7).
  • Oh, S.K., Baek, J.I., Weigand, K.M., Venselaar, H., Swarts, H.G., Park, S.H., Hashim Raza, M., Jung, D.J., Choi, S.Y., Lee, S.H., Friedrich, T., Vriend, G., Koenderink, J.B., Kim, U.K., and Lee, K.Y., A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. Eur J Hum Genet, 2014.
  • Park, M.K., Sagong, B., Lee, J.D., Bae, S.H., Lee, B., Choi, K.S., Choo, Y.S., Lee, K.Y., and Kim, U.K., A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. Int J Pediatr Otorhinolaryngol, 2014. 78(11): p. 1996-9.
  • Sagong, B., Bae, J.W., Rhyu, M.R., Kim, U.K., and Ye, M.K., Multiplex minisequencing screening for PTC genotype associated with bitter taste perception. Mol Biol Rep, 2014.
  • Sagong, B., Jung, D.J., Baek, J.I., Kim, M.A., Lee, J., Lee, S.H., Kim, U.K., and Lee, K.Y., Identification of causative mutation in a korean family with crouzon syndrome using whole exome sequencing. Ann Clin Lab Sci, 2014. 44(4): p. 476-83.
  • Song, M.H., Shin, J.W., Park, H.J., Lee, K.A., Kim, Y., Kim, U.K., Jeon, J.H., and Choi, J.Y., Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. Laryngoscope, 2014.

2013년

  • Bae, S.H., Baek, J.I., Lee, J.D., Song, M.H., Kwon, T.J., Oh, S.K., Jeong, J.Y., Choi, J.Y., Lee, K.Y., and Kim, U.K., Genetic analysis of auditory neuropathy spectrum disorder in the Korean population. Gene, 2013. 522(1): p. 65-9.
  • Cho, H.J., Song, M.H., Choi, S.Y., Kim, J., Lee, J., Kim, U.K., Bok, J., and Choi, J.Y., Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Gene, 2013. 517(2): p. 164-8.
  • Kim, B.G., Shin, J.W., Park, H.J., Kim, J.M., Kim, U.K., and Choi, J.Y., Limitations of hearing screening in newborns with PDS mutations. Int J Pediatr Otorhinolaryngol, 2013. 77(5): p. 833-7.
  • Kim, B.G., Sim, N.S., Kim, S.H., Kim, U.K., Kim, S., and Choi, J.Y., Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts. Otol Neurotol, 2013. 34(9): p. 1660-5.
  • Kim, Y., Kim, H.R., Kim, J., Shin, J.W., Park, H.J., Choi, J.Y., Kim, U.K., and Lee, K.A., A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss. Biochem Biophys Res Commun, 2013. 430(3): p. 1147-50.
  • Lee, H., Jung, J., Shin, J., Song, M., Kim, S., Lee, J.H., Lee, K.A., Shin, S., Kim, U.K., Bok, J., Lee, K.Y., Choi, J., and Park, H., Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clin Genet, 2013.
  • Lee, J., Baek, J.I., Choi, J.Y., Kim, U.K., Lee, S.H., and Lee, K.Y., Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. Gene, 2013. 532(2): p. 276-80.
  • Oh, S.K., Choi, S.Y., Yu, S.H., Lee, K.Y., Hong, J.H., Hur, S.W., Kim, S.J., Jeon, C.J., and Kim, U.K., Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim Biophys Acta, 2013. 1832(1): p. 285-91.
  • Sagong, B., Baek, J.I., Oh, S.K., Na, K.J., Bae, J.W., Choi, S.Y., Jeong, J.Y., Choi, J.Y., Lee, S.H., Lee, K.Y., and Kim, U.K., A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population. PLoS One, 2013. 8(3): p. e57237.
  • Song, H.S., Kwon, O.S., Lee, S.H., Park, S.J., Kim, U.K., Jang, J., and Park, T.H., Human taste receptor-functionalized field effect transistor as a human-like nanobioelectronic tongue. Nano Lett, 2013. 13(1): p. 172-8.
  • Song, M.H., Kwon, T.J., Kim, H.R., Jeon, J.H., Baek, J.I., Lee, W.S., Kim, U.K., and Choi, J.Y., Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome. PLoS One, 2013. 8(6): p. e67236.
  • Woo, H.M., Park, H.J., Baek, J.I., Park, M.H., Kim, U.K., Sagong, B., and Koo, S.K., Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet, 2013. 14: p. 72.
  • Wu, L., Sagong, B., Choi, J.Y., Kim, U.K., and Bok, J., A systematic survey of carbonic anhydrase mRNA expression during mammalian inner ear development. Dev Dyn, 2013. 242(3): p. 269-80.

2012년

  • Bae, J.W., Cho, C.H., Min, W.K., and Kim, U.K., Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population. Mol Biol Rep, 2012. 39(5): p. 5561-7.
  • Bae, J.W., Kim, D.B., Choi, J.Y., Park, H.J., Lee, J.D., Hur, D.G., Bae, S.H., Jung da, J., Lee, S.H., Kim, U.K., and Lee, K.Y., Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation. PLoS One, 2012. 7(8): p. e42463.
  • Bae, J.W., Kim, U.K., Oh, S.K., Rhuy, M.R., Shin, S.H., and Ye, M.K., The Relationship between Single Nucleotide Polymorphisms of the Carbonic Anhydrase 6 Gene and Phenylthiocarbamide Taste Sensitivity, Taste Disorder. Korean J Otorhinolaryngol-Head Neck Surg, 2012. 55: p. 155-60.
  • Baek, J.I., Oh, S.K., Kim, D.B., Choi, S.Y., Kim, U.K., Lee, K.Y., and Lee, S.H., Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. Orphanet J Rare Dis, 2012. 7(1): p. 60.
  • Cho, H.J., Park, H.J., Trexler, M., Venselaar, H., Lee, K.Y., Robertson, N.G., Baek, J.I., Kang, B.S., Morton, C.C., Vriend, G., Patthy, L., and Kim, U.K., A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. J Mol Med (Berl), 2012.
  • Lee, J.D., Kwon, T.J., Kim, U.K., and Lee, W.S., Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas. PLoS One, 2012. 7(1): p. e30418.
  • Sagong, B., Park, H.J., Lee, K.Y., and Kim, U.K., Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene. Gene, 2012. 492(1): p. 239-43.
  • Sagong, B., Seok, J.H., Kwon, T.J., Kim, U.K., Lee, S.H., and Lee, K.Y., A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. Gene, 2012. 508(1): p. 135-9.
  • Song, M.H., Lee, K.Y., Choi, J.Y., Bok, J., and Kim, U.K., Nonsyndromic X-linked hearing loss. Front Biosci (Elite Ed), 2012. 4: p. 924-33.

2011년

  • Bae, J.W., Kim, U.K., Kwon, T.J., Choi, S.J., and Ye, M.K., Polymorphisms of TAS1R3 and GNAT3 Genes Are Associated with Patients with Taste Disorder. Journal of Life Science, 2011. 21(3): p. 412-416.
  • Baek, J.I., Park, H.J., Park, K., Choi, S.J., Lee, K.Y., Yi, J.H., Friedman, T.B., Drayna, D., Shin, K.S., and Kim, U.K., Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology. Biochim Biophys Acta, 2011. 1812(4): p. 536-43.
  • Choi, S.Y., Lee, K.Y., Kim, H.J., Kim, H.K., Chang, Q., Park, H.J., Jeon, C.J., Lin, X., Bok, J., and Kim, U.K., Functional evaluation of GJB2 variants in nonsyndromic hearing loss. Mol Med, 2011. 17(5-6): p. 550-6.
  • Kim, H.K., Kim, Y.H., Sagong, B., Kwon, T.J., Oh, S.K., Lee, H.J., Lee, K.Y., Lee, S.H., and Kim, U.K., Molecular analysis of TMC1 gene in the Korean patients with nonsyndromic hearing loss. Genes Genom, 2011. 33: p. 205-207.
  • Kim, M., Kim, J., Kim, S.H., Kim, S.C., Jeon, J.H., Lee, W.S., Kim, U.K., Kim, H.N., and Choi, J.Y., Hemorrhage in the endolymphatic sac: a cause of hearing fluctuation in enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol, 2011. 75(12): p. 1538-44.
  • Kim, S.H., Kim, U.K., Lee, W.S., Bok, J., Song, J.W., Seong, J.K., and Choi, J.Y., Albumin-like protein is the major protein constituent of luminal fluid in the human endolymphatic sac. PLoS One, 2011. 6(6): p. e21656.
  • Kim, T.H., Song, H.S., Jin, H.J., Lee, S.H., Namgung, S., Kim, U.K., Park, T.H., and Hong, S., "Bioelectronic super-taster" device based on taste receptor-carbon nanotube hybrid structures. Lab Chip, 2011. 11(13): p. 2262-7.
  • Song, M.H., Cho, H.J., Lee, H.K., Kwon, T.J., Lee, W.S., Oh, S., Bok, J., Choi, J.Y., and Kim, U.K., CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. PLoS One, 2011. 6(9): p. e24511.
  • Song, M.H., Choi, S.Y., Wu, L., Oh, S.K., Lee, H.K., Lee, D.J., Shim, D.B., Choi, J.Y., Kim, U.K., and Bok, J., Pou3f4 deficiency causes defects in otic fibrocytes and stria vascularis by different mechanisms. Biochem Biophys Res Commun, 2011. 404(1): p. 528-33.

2010년

  • Bae, J.W., Lee, H.J., Oh, S.K., Kim, S.Y., and Kim, U.K., Genetic variation of umami taste genes in Koreans. Genes Genom, 2010. 32: p. 111-113.
  • Baek, J.I., Cho, H.J., Choi, S.J., Kim, L.S., Zhao, C., Sagong, B.R., Kim, U.K., and Jeong, S.W., The Trp117Arg mutation of the COCH gene causes deafness in Koreans. Clin Genet, 2010. 77(4): p. 399-403.
  • Choi, S.Y., Lee, K.Y., Kim, Y.E., Bae, J.W., Oh, S.K., Kim, S.Y., Hwang, S.J., Kim, U.K., and Lee, S.H., Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss. Int J Mol Med, 2010. 25(3): p. 315-20.
  • Kim, O.J., Kim, U.K., Oh, S.H., Cho, Y.W., Oh, K.I., Oh, D., Park, Y.S., and Kim, N.K., Association of endothelial nitric oxide synthase polymorphisms and haplotypes with ischemic stroke in Korean individuals with or without diabetes mellitus. Mol Med Report, 2010. 3(3): p. 509-13.
  • Lee, H.J., Bae, J.W., Kwon, T.J., Sagong, B., and Kim, U.K., Genetic Polymorphisms and Haplotype Analysis of Sweet Taste Receptor TAS1R2 Gene in the Korean Population. Journal of Life Science, 2010. 20(3): p. 462-465.
  • Lee, H.K., Park, H.J., Lee, K.Y., Park, R., and Kim, U.K., A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss. Biochem Biophys Res Commun, 2010. 396(3): p. 626-30.
  • Park, H.J., Cho, H.J., Baek, J.I., Ben-Yosef, T., Kwon, T.J., Griffith, A.J., and Kim, U.K., Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. J Hum Genet, 2010. 55(1): p. 59-62.
  • Sagong, B., Park, R., Kim, Y.H., Lee, K.Y., Baek, J.I., Cho, H.J., Cho, I.J., Kim, U.K., and Lee, S.H., Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. Ann Clin Lab Sci, 2010. 40(4): p. 380-5.
  • Song, M.H., Lee, H.K., Choi, J.Y., Kim, S., Bok, J., and Kim, U.K., Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA. Clin Genet, 2010. 78(6): p. 524-32.

2009년

  • Baek, J.I., Choi, S.J., Park, S.H., Choi, J.Y., Kim, C.D., Kim, Y.L., and Kim, U.K., Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy. Indian J Med Res, 2009. 129(5): p. 525-33.
  • Choi, S.Y., Kim, Y.E., Ahn, D.B., Kim, T.H., Choi, J.H., Lee, H.R., Hwang, S.J., Kim, U.K., and Lee, S.H., Construction of a DNA chip for screening of genetic hearing loss. Clin Exp Otorhinolaryngol, 2009. 2(1): p. 44-7.
  • Choi, S.Y., Oh, S.K., Yoon, H.S., Lee, S.H., and Kim, U.K., Genetic characteristics of 32 autosomal STR loci and its application for dentifying a locus in hereditary hearing loss in the Korean population. Genes Genom, 2009. 31(6): p. 451-456.
  • Choi, S.Y., Park, H.J., Lee, K.Y., Dinh, E.H., Chang, Q., Ahmad, S., Lee, S.H., Bok, J., Lin, X., and Kim, U.K., Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. Hum Mutat, 2009. 30(7): p. E716-27.
  • Kim, S., Song, D.G., Bae, J.W., Choi, S.Y., Kim, U.K., Choi, Y.J., Lee, K.Y., Lee, S.H., and Lee, J.R., A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. Clin Exp Otorhinolaryngol, 2009. 2(2): p. 100-2.
  • Lee, H.J., Choi, S.J., Hong, J.M., Lee, W.K., Baek, J.I., Kim, S.Y., Park, E.K., Kim, T.H., and Kim, U.K., Association of a polymorphism in the intron 7 of the SREBF1 gene with osteonecrosis of the femoral head in Koreans. Ann Hum Genet, 2009. 73(1): p. 34-41.
  • Lee, H.K., Lee, S.H., Lee, K.Y., Lim, E.J., Choi, S.Y., Park, R.K., and Kim, U.K., Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. Clin Genet, 2009. 75(6): p. 572-5.
  • Lee, H.K., Song, M.H., Kang, M., Lee, J.T., Kong, K.A., Choi, S.J., Lee, K.Y., Venselaar, H., Vriend, G., Lee, W.S., Park, H.J., Kwon, T.K., Bok, J., and Kim, U.K., Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics, 2009. 39(3): p. 195-201.
  • Lee, J.D., Kim, S.C., Koh, Y.W., Lee, H.J., Choi, S.Y., and Kim, U.K., A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. Ann Clin Lab Sci, 2009. 39(3): p. 303-6.

2008년

  • Bae, J.W., Lee, K.Y., Choi, S.Y., Lee, S.H., Park, H.J., and Kim, U.K., Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss. Int J Mol Med, 2008. 22(2): p. 175-80.
  • Choi, S.J., Song, H.K., Jeong, J.H., Jeon, I.H., Yoon, H.S., Chung, K.W., Won, Y.J., Choi, J.Y., and Kim, U.K., Genetic characteristics of 207 microsatellite markers in the Korean population and in other Asian populations. Mol Cells, 2008. 25(2): p. 301-4.
  • Kim, S.H., Kim, U.K., Chae, J.J., Baek, J.I., Choi, S.Y., Bae, J.W., Kim, S.H., and Kim, H.S., Genetic Variations of the Apolipoprotein B Gene in Korean People and Its Association with Hypercholesterolemia. Genes Genom, 2008. 30(5): p. 487-497.
  • Kim, T.H., Baek, J.I., Hong, J.M., Choi, S.J., Lee, H.J., Cho, H.J., Park, E.K., Kim, U.K., and Kim, S.Y., Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population. BMC Med Genet, 2008. 9: p. 94.
  • Kim, U.K., Lee, H.J., Cho, H.J., and Ye, M.K., Coding Single Nucleotide Polymorphisms and Haplotype Diversity of Human Bitter Taste Receptor Genes in the Korean Population. Genes Genom, 2008. 30(6): p. 571-577.
  • Kwak, S.Y., Kim, U.K., Cho, H.J., Lee, H.K., Kim, H.J., Kim, N.K., and Hwang, S.G., Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms as risk factors for hepatocellular carcinoma in a Korean population. Anticancer Res, 2008. 28(5A): p. 2807-11.
  • Lee, H.J. and Kim, U.K., Genetic Factor of Bitter Taste Perception in Humans. Journal of Life Science, 2008. 18(7): p. 1011-1014.
  • Lee, K.Y., Choi, S.Y., Bae, J.W., Kim, S., Chung, K.W., Drayna, D., Kim, U.K., and Lee, S.H., Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int J Pediatr Otorhinolaryngol, 2008. 72(9): p. 1301-9.

2007년

  • Lee, K.Y., Kim, S., Kim, U.K., Ki, C.S., and Lee, S.H., Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. Int J Pediatr Otorhinolaryngol, 2007. 71(1): p. 169-74.