Pick Topic
Review Topic
List Experts
Examine Expert
Save Expert
  Site Guide ··   
Hearing Disorders: HELP
Articles by Hui Ram Kim
Based on 3 articles published since 2010
(Why 3 articles?)
||||

Between 2010 and 2020, Hui Ram Kim wrote the following 3 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 2016

Kim, Hui Ram / Oh, Se-Kyung / Lee, Eun-Shil / Choi, Soo-Young / Roh, Seung-Eon / Kim, Sang Jeong / Tsukihara, Tomitake / Lee, Kyu-Yup / Jeon, Chang-Jin / Kim, Un-Kyung. ·Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 41566, South Korea. · Division of Life Sciences, Korea Polar Research Institute (KOPRI), Incheon, 21990, South Korea. · Department of Medicine, Medical University of South Carolina, Charleston, SC, USA. · Department of Physiology, Seoul National University College of Medicine, Seoul, 08826, South Korea. · Institute for Protein Research, Osaka University, 3-2, Yamada-oka, Suita, Osaka, 565-0871, Japan. · Picobiology Institute, Graduate School of Life Science, University of Hyogo, Kamigohori, Akoh, Hyogo, 678-1297, Japan. · Department of Otolaryngology, College of Medicine, Kyungpook National University, Daegu, 41944, South Korea. · Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 41566, South Korea. cjjeon@knu.ac.kr. · School of Life Sciences, BrainKorea21 PLUS KNU Creative BioResearch Group, Kyungpook National University, Daegu, 41566, South Korea. cjjeon@knu.ac.kr. · Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 41566, South Korea. kimuk@knu.ac.kr. · School of Life Sciences, BrainKorea21 PLUS KNU Creative BioResearch Group, Kyungpook National University, Daegu, 41566, South Korea. kimuk@knu.ac.kr. ·Hum Genet · Pubmed #26749107.

ABSTRACT: Gap junctions (GJs) are intercellular channels associated with cell-cell communication. Connexin 26 (Cx26) encoded by the GJB2 gene forms GJs of the inner ear, and mutations of GJB2 cause congenital hearing loss that can be syndromic or non-syndromic. It is difficult to predict pathogenic effects using only genetic analysis. Using ionic and biochemical coupling tests, we evaluated the pathogenic effects of Cx26 variants using computational analyses to predict structural abnormalities. For seven out of ten variants, we predicted the variation would result in a loss of GJ function, whereas the others would completely fail to form GJs. Functional studies demonstrated that, although all variants were able to function normally as hetero-oligomeric GJ channels, six variants (p.E47K, p.E47Q, p.H100L, p.H100Y, p.R127L, and p.M195L) did not function normally as homo-oligomeric GJ channels. Interestingly, GJs composed of the Cx26 variant p.R127H were able to function normally, even as homo-oligomeric GJ channels. This study demonstrates the particular location and property of an amino acid are more important mainly than the domain where they belong in the formation and function of GJ, and will provide information that is useful for the accurate diagnosis of hearing loss.

2 Article Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. 2013

Song, Mee Hyun / Kwon, Tae-Jun / Kim, Hui Ram / Jeon, Ju Hyun / Baek, Jeong-In / Lee, Won-Sang / Kim, Un-Kyung / Choi, Jae Young. ·Department of Otorhinolaryngology, Kwandong University College of Medicine, Myongji Hospital, Goyang, South Korea. ·PLoS One · Pubmed #23840632.

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.

3 Article A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss. 2013

Kim, Yoonjung / Kim, Hui Ram / Kim, Juwon / Shin, Joong-Wook / Park, Hong-Joon / Choi, Jae Young / Kim, Un-Kyung / Lee, Kyung-A. ·Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea. ·Biochem Biophys Res Commun · Pubmed #23246836.

ABSTRACT: INTRODUCTION: Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. PS and DFNB4 are genetically homogeneous disorders caused by bi-allelic SLC26A4 mutations. Here, we report a novel synonymous mutation (c.1803G>A, p.Lys601Lys), that caused aberrant splicing in two Korean family members who were clinically considered to have DFNB4, along with congenital hearing loss and dilated vestibular aqueducts (DVA). METHODS: After extracting DNA from whole blood using standard procedures, the 21 exons and flanking introns of SLC26A4 were amplified with PCR. To evaluate the implication of a novel synonymous mutation (c.1803G>A), we used The Berkeley Drosophila Genome Project (BDGP) (http://www.fruitfly.org/) as a splice site prediction program and performed exon trapping analysis. RESULTS: In molecular analysis of the 21 exons of SCL26A4, we detected a known splicing mutation (c.919-2A>G, heterozygote) and a novel variant (c.1803G>A, heterozygote) in the patients (II-1 and II-2). According to in silico analysis, the novel variant (c.1803G>A) affects canonical splice donor nucleotide positioning. To define the transcript level effects of this novel 1803G>A variant, we performed exon trapping and confirmed that exon 16 is completely skipped in this variant type. CONCLUSION: We report a novel synonymous mutation (c.1803G>A) causing complete exon 16 skipping in the SLC26A4 gene in two Korean family members with hearing loss. This is the first case of a synonymous SNP (c.1803G>A) affecting vestibulocochlear organs through altering splicing accuracy by causing a complete skipping of exon 16. An important issue raised by this study is that synonymous mutations that have been previously ignored in clinical diagnoses must now be considered as potential pathogenic mutations.