Young Ik Koh[Author] - Search Results

Year	Number of Results
2018	2
2019	2
2021	3
2022	3
2023	1
2024	0

1

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.

Koh YI, Oh KS, Kim JA, Noh B, Choi HJ, Joo SY, Rim JH, Kim HY, Kim DY, Yu S, Kim DH, Lee SG, Jung J, Choi JY, Gee HY. Koh YI, et al. Autophagy. 2022 Nov;18(11):2593-2614. doi: 10.1080/15548627.2022.2040891. Epub 2022 Mar 6. Autophagy. 2022. PMID: 35253614 Free PMC article.

2

Overlooked KCNQ4 variants augment the risk of hearing loss.

Oh KS, Roh JW, Joo SY, Ryu K, Kim JA, Kim SJ, Jang SH, Koh YI, Kim DH, Kim HY, Choi M, Jung J, Namkung W, Nam JH, Choi JY, Gee HY. Oh KS, et al. Among authors: koh yi. Exp Mol Med. 2023 Apr;55(4):844-859. doi: 10.1038/s12276-023-00976-4. Epub 2023 Apr 3. Exp Mol Med. 2023. PMID: 37009795 Free PMC article.

3

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J. Oh KS, et al. Among authors: koh yi. Hum Genet. 2022 Apr;141(3-4):889-901. doi: 10.1007/s00439-021-02368-y. Epub 2021 Sep 16. Hum Genet. 2022. PMID: 34529116 Free PMC article.

4

A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.

Shin DH, Jung J, Koh YI, Rim JH, Lee JS, Choi HJ, Joo SY, Yu S, Cha DH, Lee SY, Lee JH, Lee MG, Choi JY, Gee HY. Shin DH, et al. Among authors: koh yi. Hum Mutat. 2019 Mar;40(3):335-346. doi: 10.1002/humu.23698. Epub 2018 Dec 25. Hum Mutat. 2019. PMID: 30556268

5

Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.

Jung J, Lin H, Koh YI, Ryu K, Lee JS, Rim JH, Choi HJ, Lee HJ, Kim HY, Yu S, Jin H, Lee JH, Lee MG, Namkung W, Choi JY, Gee HY. Jung J, et al. Among authors: koh yi. Exp Mol Med. 2019 Aug 21;51(8):1-12. doi: 10.1038/s12276-019-0300-9. Exp Mol Med. 2019. PMID: 31434872 Free PMC article.

6

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.

Rim JH, Noh B, Koh YI, Joo SY, Oh KS, Kim K, Kim JA, Kim DH, Kim HY, Yoo JE, Lee ST, Bok JW, Lee MG, Jung J, Choi JY, Gee HY. Rim JH, et al. Among authors: koh yi. Hum Genet. 2022 Apr;141(3-4):915-927. doi: 10.1007/s00439-021-02367-z. Epub 2021 Sep 14. Hum Genet. 2022. PMID: 34519870 Free PMC article.

7

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.

Jung J, Choi HB, Koh YI, Rim JH, Choi HJ, Kim SH, Lee JH, An J, Kim A, Lee JS, Joo SY, Yu S, Choi JY, Kang TM, Gee HY. Jung J, et al. Among authors: koh yi. Sci Rep. 2018 Nov 9;8(1):16659. doi: 10.1038/s41598-018-34876-9. Sci Rep. 2018. PMID: 30413759 Free PMC article.

8

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.

Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY. Lee SY, et al. Among authors: koh yi. Exp Mol Med. 2021 Jul;53(7):1192-1204. doi: 10.1038/s12276-021-00653-4. Epub 2021 Jul 28. Exp Mol Med. 2021. PMID: 34316018 Free PMC article.

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