Kyu‐Yup Lee

发表

Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome

Jaetae Lee, U. Kim, Min-A Kim, 2014, Molecular Biology Reports.

Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

U. Kim, Min-A Kim, Ye-Ri Kim, 2014, PloS one.

A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome

U. Kim, SungHee Kim, J. Bae, 2009, Clinical and experimental otorhinolaryngology.

The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis

C. Jeon, S. Roh, T. Tsukihara, 2016, Human Genetics.

Functional Evaluation of GJB 2 Variants in Nonsyndromic Hearing Loss

C. Jeon, J. Bok, U. Kim, 2011 .

Molecular cloning, characterization, and expression of pannexin genes in chicken.

U. Kim, J. Bae, Tae-Jun Kwon, 2014, Poultry science.

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

G. Vriend, H. Venselaar, Myengmo Kang, 2009, Physiological genomics.

Clinical and molecular characterizations of novel POU 3 F 4 mutations reveal that DFN 3 is due to null function of POU 3 F 4 protein

G. Vriend, H. Venselaar, Myengmo Kang, 2009 .

Galangin prevents aminoglycoside-induced ototoxicity by decreasing mitochondrial production of reactive oxygen species in mouse cochlear cultures.

In-kyu Lee, U. Kim, Min-A Kim, 2016, Toxicology letters.

Protective effects of 1,2,3-triazole derivative KPR-A020 against cisplatin-induced ototoxicity in murine cochlear cultures.

In-kyu Lee, U. Kim, Ye-Ri Kim, 2017, International journal of pediatric otorhinolaryngology.

Alpha-lipoic acid protects against cisplatin-induced ototoxicity via the regulation of MAPKs and proinflammatory cytokines.

Jaetae Lee, Se-Jin Kim, In-kyu Lee, 2014, Biochemical and biophysical research communications.

Pannexin 3 is required for normal progression of skeletal development in vertebrates

T. Huh, J. Bok, Z. Ryoo, 2015, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

U. Kim, Jeong-In Baek, Kyu-Yup Lee, 2016, Clinical and experimental otorhinolaryngology.

Methionine Sulfoxide Reductase B3-Targeted In Utero Gene Therapy Rescues Hearing Function in a Mouse Model of Congenital Sensorineural Hearing Loss.

Jin-Ho Cho, Z. Ryoo, U. Kim, 2016, Antioxidants & redox signaling.

Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

Jaetae Lee, U. Kim, Min-A Kim, 2014, Annals of clinical and laboratory science.

Genetic association of MYH genes with hereditary hearing loss in Korea.

U. Kim, J. Choi, Se‐Kyung Oh, 2016, Gene.

Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing

J. Bok, U. Kim, P. Wangemann, 2019, Theranostics.

CRISPR/Cas9-mediated genome editing of splicing mutation causing congenital hearing loss.

U. Kim, Nari Ryu, Min-A Kim, 2019, Gene.

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.

U. Kim, Kyu-Yup Lee, Sang-Heun Lee, 2012, Gene.

Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss

U. Kim, J. Choi, Se‐Kyung Oh, 2016, Genes & Genomics.

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

U. Kim, Sang-Heun Lee, S. Choi, 2012, Orphanet Journal of Rare Diseases.

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

Y. Bae, J. Bok, Z. Ryoo, 2014, Human molecular genetics.

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss

U. Kim, Hyo-Jeong Lee, Min-A Kim, 2015, PloS one.

Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss

S. Goh, U. Kim, Byeonghyeon Lee, 2019, Human mutation.

Nonsyndromic X-linked hearing loss.

J. Bok, U. Kim, M. Song, 2012, Frontiers in bioscience.

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

M. B. Duz, M. Seven, U. Kim, 2016, Gene.

Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.

J. Bok, U. Kim, Jeong‐In Baek, 2016, International journal of pediatric otorhinolaryngology.

Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans

U. Kim, Nari Ryu, Min-A Kim, 2016, BMC Medical Genetics.

Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.

J. Bok, U. Kim, Nari Ryu, 2017, Gene.

Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.

C. Jeon, U. Kim, Kyu-Yup Lee, 2013, Biochimica et biophysica acta.

Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss.

Young-Eun Kim, U. Kim, J. Bae, 2010, International journal of molecular medicine.

Fursultiamine Prevents Drug-Induced Ototoxicity by Reducing Accumulation of Reactive Oxygen Species in Mouse Cochlea

In-kyu Lee, U. Kim, Ye-Ri Kim, 2021, Antioxidants.

Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.

C. Ki, U. Kim, SungHee Kim, 2007, International journal of pediatric otorhinolaryngology.

Evaluating protective and therapeutic effects of alpha-lipoic acid on cisplatin-induced ototoxicity

U. Kim, Nari Ryu, Min-A Kim, 2018, Cell Death & Disease.

Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype–Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder

Jaetae Lee, C. Morton, U. Kim, 2014, Human mutation.

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

G. Vriend, H. Venselaar, J. Bok, 2014, Open Biology.

Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.

U. Kim, Sang-Heun Lee, Hyun-joo Cho, 2010, Annals of clinical and laboratory science.

Evaluating protective and therapeutic effects of alpha-lipoic acid on cisplatin-induced ototoxicity

U. Kim, Nari Ryu, Min-A Kim, 2018, Cell Death & Disease.

Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with connexin-mediated passive conductance channels

W. Park, Eunyoung Yi, S. Blanton, 2020, bioRxiv.

Methionine Sulfoxide Reductase A, B1 and B2 Are Likely to Be Involved in the Protection against Oxidative Stress in the Inner Ear

Jaetae Lee, U. Kim, Byeonghyeon Lee, 2014, Cells Tissues Organs.

Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome

Jaetae Lee, U. Kim, Min-A Kim, 2014, Molecular Biology Reports.

Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.

U. Kim, Jeong-In Baek, Kyu-Yup Lee, 2013, Gene.

KL1333, a derivative of β-lapachone, protects against cisplatin-induced ototoxicity in mouse cochlear cultures.

In-kyu Lee, U. Kim, Ye-Ri Kim, 2020, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Therapeutic potential of the mitochondria-targeted antioxidant MitoQ in mitochondrial-ROS induced sensorineural hearing loss caused by Idh2 deficiency

Jeen-Woo Park, J. Bok, U. Kim, 2018, Redox biology.

A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome.

U. Kim, Byeonghyeon Lee, M. Park, 2014, International journal of pediatric otorhinolaryngology.

Functional Evaluation of GJB2 Variants in Nonsyndromic Hearing Loss

Xi Lin, Hong-Joon Park, Un-Kyung Kim, 2011, Molecular medicine.

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

G. Vriend, C. Morton, H. Venselaar, 2012, Journal of Molecular Medicine.

Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss.

U. Kim, J. Bae, S. Choi, 2008, International journal of molecular medicine.

Different functional consequences of two missense mutations in the GJB2 gene associated with non‐syndromic hearing loss

Xi Lin, Sang Heun Lee, Hong-Joon Park, 2009, Human mutation.

A Rapid Method for Simultaneous Screening of Multi-Gene Mutations Associated with Hearing Loss in the Korean Population

U. Kim, Jeong-In Baek, Kyu-Yup Lee, 2013, PloS one.

Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.

T. Friedman, K. Shin, U. Kim, 2011, Biochimica et biophysica acta.

A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss.

U. Kim, Kyu-Yup Lee, R. Park, 2010, Biochemical and biophysical research communications.

Genetic analysis of auditory neuropathy spectrum disorder in the Korean population.

U. Kim, Jong Dae Lee, Jeong-In Baek, 2013, Gene.

Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS

U. Kim, Byeonghyeon Lee, Ye-Ri Kim, 2023, Genes & Genomics.

Effective PEI-mediated delivery of CRISPR-Cas9 complex for targeted gene therapy.

Kyu-Yup Lee, Dongsik Park, Won Jong Kim, 2018, Nanomedicine : nanotechnology, biology, and medicine.

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

G. Vriend, T. Friedrich, H. Venselaar, 2014, European Journal of Human Genetics.

Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing

J. Lipschutz, J. Bok, U. Kim, 2018, Molecular Neurobiology.

Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing

J. Lipschutz, J. Bok, U. Kim, 2018, Molecular Neurobiology.

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

G. Vriend, C. Morton, H. Venselaar, 2012, Journal of Molecular Medicine.

Molecular analysis of TMC1 gene in the Korean patients with nonsyndromic hearing loss

U. Kim, Sang-Heun Lee, Tae-Jun Kwon, 2011, Genes & Genomics.

A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

U. Kim, Jeong‐In Baek, Kyu‐Yup Lee, 2016, Clinical and experimental otorhinolaryngology.

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

W. Park, Eunyoung Yi, S. Blanton, 2021, Proceedings of the National Academy of Sciences.

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.

U. Kim, D. Drayna, S. Choi, 2008, International journal of pediatric otorhinolaryngology.

Mitochondrial redox system: A key target of antioxidant therapy to prevent acquired sensorineural hearing loss

U. Kim, Ye-Ri Kim, Jeong‐In Baek, 2023, Frontiers in Pharmacology.

The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis

C. Jeon, T. Tsukihara, U. Kim, 2016, Human Genetics.

Galangin prevents aminoglycoside-induced ototoxicity by decreasing mitochondrial production of reactive oxygen species in mouse cochlear cultures.

In-kyu Lee, U. Kim, Min-A Kim, 2016, Toxicology letters.

Therapeutic effect of intraperitoneal dexamethasone on noise-induced permanent threshold shift in mice model

Byeonghyeon Lee, Ye-Ri Kim, D. J. Jung, 2023, Experimental brain research.