×

가장 흔한 유전성 난청의 원인인 전정수도관 확장증에 대해 세계 최초로 유전병리학적 기전 밝히고 치료에 접근, 2011 BRIC 한국을 빛내는 사람들 선정 (Choi BY, Kim HM, Ito T, Lee KY, Li X, Monahan K, Wen Y, Wilson E, Kurima K, Saunders TL, Petralia RS, Wangemann P, Friedman TB, Griffith AJ. Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest. 2011 Nov 1;121(11):4516-25. (IF 14))

내이 기형에 있어서 세계최초로 단백질의 불안정성이 내이 기형을 가진 난청에 기여한다는 점과 protease inhibitor를 통한 치료의 가능성 제시 (Choi BY, Kim DH, Chung T, Chang M, Kim EH, Kim AR, Seok J, Chang SO, Bok J,Kim D, Oh SH, Park WY. Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation. Hum Mutat. 2013 Feb;34(2):309-16)

Choi JW, Min B, Kim A, Koo JW, Kim CS, Park WY, Chung J, Kim V, Ryu YJ, Kim SH, Chang SO, Oh SH, Choi BY. De Novo Large Genomic Deletions Involving POU3F4 in Incomplete Partition Type III Inner Ear Anomaly in East Asian Populations and Implications for Genetic Counseling. Otol Neurotol. 2014 Mar 6.

Ito T, Li X, Kurima K, Choi BY, Wangemann P, Griffith AJ. Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction. Neurobiol Dis. 2014 Feb 19. pii: S0969-9961(14)00037-0

Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY. A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. J Mol Med (Berl). 2014 Feb 15

Choi BY, Park G, Gim J, Kim AR, Kim BJ, Kim HS, Park JH, Park T, Oh SH, Han KH, Park WY. Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss. PLoS One. 2013 Aug 22;8(8):e68692

Kim SY, Park G, Han KH, Kim A, Koo JW, Chang SO, Oh SH, Park WY, Choi BY. Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity. PLoS One. 2013 Apr 25;8(4):e61592.

Byung Yoon Choi, Yong-Hwi An, Joo Hyun Park, eong Hun Jang, Hyun Chung Chung, Ah-Reum Kim, Jun Ho Lee, Chong-Sun Kim, Seung Ha Oh, Sun O. Chang. Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness 4 irrespective of types of mutations. Eur Arch Otorhinolaryngol 2013 Feb 12. [Epub ahead of print]

Sung-Woo Cho, Ah Reum Kim, Ja Won Koo, Chong Sun Kim, Jun Ho Lee, Sun O Chang, Seung-Ha Oh, Byung Yoon Choi*. Clinical characteristics of patients with narrow bony cochlear nerve canal: Is the bilateral case just a duplicate of the unilateral case? Laryngoscope 2013 [Epub ahead of print] *corresponding author

Kim HY, Lee HS, Choi BY, Chang SO, Oh SH, Lee JH. Dopamine increases Na(+) absorption in the Reissner's membrane of the gerbil cochlea. Auris Nasus Larynx. 2012 Oct 8.

Kim CH, Kim YC, Choi BY, Lee HS, Oh SH, Kim YH. Expression of osmotic stress protein 94 in murine endolymphatic hydrops model. Acta Otolaryngol. 2012 Jun;132 Suppl 1:S118-23.

Kim YH, Park KT, Choi BY, Park MH, Lee JH, Oh SH, Chang SO. Early combination treatment with intratympanic steroid injection in severe to profound suddensensorineural hearing loss improves speech discrimination performance. Eur Arch Otorhinolaryngol. 2012 Oct;269(10):2173-8.

Choi BY, Song JJ, Chang SO, Kim SU, Oh SH. Intravenous administration of human mesenchymal stem cells after noise- or drug-induced hearing loss in rats. Acta Otolaryngol. 2012 Jun;132 Suppl 1:S94-102.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C,McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest. 2012 Apr 2;122(4):1233-45.

Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. SLC26A4 genotype and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem. 2011;28(3):545-52.

Choi BY, Muskett J, King KA, Zalewski CK, Shawker T, Reynolds JC, Butman JA, Brewer CC, Stewart AK, Alper SL, Griffith AJ. Hereditary hearing loss with thyroid abnormalities. Adv Otorhinolaryngol. 2011;70:43-9. Epub 2011 Feb 24. Review.

Saima Riazuddin, PhD; Zubair M. Ahmed, PhD; MD, PhD; Uzma Shaukat, MPhil; Munir A. Bhinder, MS; Shahid Y. Khan, MPhil; Sheikh Raizuddin, PhD; Andrew J. Griffith, MD, PhD; Thomas B. Friedman, PhD, Byung Yoon Choi* Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet. 2011 Feb 9;12:21 *corresponding author

King KA, Choi BY, Zalewski C, Madeo AC, Manichaikul A, Pryor SP, Ferruggiaro, A, Eisenman D, Kim HJ, Niparko J, Thomsen J, Butman JA, Griffith AJ, Brewer CC. SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. Laryngoscope. 2010 Feb;120(2):384-9.

Choi BY, Alper SL, Griffith AJ. Response to: The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism? Hum Mutat. 2009 Sep 28;30(10):1471.

Byung Yoon Choi, Anne C. Madeo, Kelly A. King, Christopher K. Zalewski, Shannon P. Pryor, Julie A. Muskett, Walter E. Nance, John A. Butman, Carmen C. Brewer, Andrew J. Griffith, Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes J. Med Genet. 2009;46:856-61

Byung Yoon Choi, Andrew K. Stewart; Katherine K. Nishimura; Won Jae Cha; Moon-Woo Seong; Sung Sup Park; Seung Won Kim; Yang Sook Chun; Jong Woo Chung; Shi-Nae Park; Sun O Chang; Chong-Sun Kim; Seth L. Alper; Andrew J. Griffith; Seung-Ha Oh, Molecular Genetic Diagnosis of Enlarged Vestibular Aqueducts in East Asians. Genet Test Biomarkers. 2009 Oct;13(5):679-87.

Chang H, Song JJ, Choi BY, Lee JH, Oh SH, Chang SO. Partial ossicular replacement versus type II tympanoplasty in congenital aural atresia surgery: a matched group study. Otol Neurotol. 2009 Aug;30(5):609-13

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Jeffrey Kim H, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat. 2009 Apr; 30(4):599-608

Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet. 2009 Mar;75(3):237-43.