List of works - Un-Kyung Kim

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

scientific article published on 29 June 2009

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

scientific article published on 07 July 2016

A Systematic Survey of Carbonic Anhydrase mRNA Expression During Mammalian Inner Ear Development ⬇️

scientific article published on January 28, 2013

A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation

scientific article published on 12 April 2019

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

scientific article

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

scientific article

A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia

scientific article published on 06 September 2020

A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome

scientific article published in January 2009

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

scientific article published on 29 April 2010

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

scientific article published on August 4, 2012

A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

scientific article published on 21 December 2016

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

scientific article published on December 14, 2012

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population

scientific article

A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome

scientific article published on 17 August 2014

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

scientific article published on 2 May 2014

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

scientific article published in March 2010

Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population

scientific article published on 23 December 2011

C-phycocyanin from Limnothrix Species KNUA002 Alleviates Cisplatin-Induced Ototoxicity by Blocking the Mitochondrial Apoptotic Pathway in Auditory Cells.

scientific article published on 19 April 2019

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome

scientific article

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

scientific article published on 18 March 2019

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

scientific article

Construction of a DNA chip for screening of genetic hearing loss

scientific article published on 26 March 2009

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

scientific article published on 01 March 2019

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

scientific article published in July 2009

Distinct roles of stereociliary links in the nonlinear sound processing and noise resistance of cochlear outer hair cells

scientific article published on 01 May 2020

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

scientific article published on 30 June 2018

Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts.

scientific article published in December 2013

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

scientific article published on 01 August 2018

Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss

scientific article

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

scientific article published on May 19, 2012

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians

scientific article

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

scientific article

Functional evaluation of GJB2 variants in nonsyndromic hearing loss.

scientific article

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

scientific article

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

scientific article published on 23 September 2019

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

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

scientific article published on August 17, 2013

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

scientific article published on April 4, 2013

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss

scientific article

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

scientific article published on 17 January 2013

Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular Schwannomas ⬇️

scientific article published on January 25, 2012

Genetic association of MYH genes with hereditary hearing loss in Korea

scientific article published on 5 July 2016

Hemorrhage in the endolymphatic sac: a cause of hearing fluctuation in enlarged vestibular aqueduct

scientific article published on 2 October 2011

Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene ⬇️

scientific article published on October 20, 2011

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

scientific article published on 23 November 2015

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

scientific article published on 4 March 2014

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

scientific article

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

scientific article

Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy

scientific article

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder

scientific article

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

scientific article published on 13 December 2013

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

scientific article published on 20 March 2020

Limitations of hearing screening in newborns with PDS mutations.

scientific article

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

scientific article

Methionine sulfoxide reductase A, B1 and B2 are likely to be involved in the protection against oxidative stress in the inner ear.

scientific article published on 13 December 2014

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

scientific article published on 3 November 2013

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

scientific article published on 21 May 2019

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

scientific article

Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation ⬇️

scientific article published on August 6, 2012

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

scientific article

Multiplex minisequencing screening for PTC genotype associated with bitter taste perception

scientific article published on 12 January 2014

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

scientific article

Nonsyndromic X-linked hearing loss

scientific article published on January 2012

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

scientific article published on 17 October 2006

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

scientific article published on 16 July 2015

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

scientific article published on September 9, 2010

Pou3f4 deficiency causes defects in otic fibrocytes and stria vascularis by different mechanisms.

scientific article published on 7 December 2010

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

scientific article

Region-specific endodermal signals direct neural crest cells to form the three middle ear ossicles

scientific article published on 22 January 2019

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

scientific article published on 6 November 2015

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

scientific article published on 22 January 2016

Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population

scientific article published on 27 October 2008

Spatiotemporal expression patterns of clusterin in the mouse inner ear.

scientific article

Targeted Gene Delivery into the Mammalian Inner Ear Using Synthetic Serotypes of Adeno-Associated Virus Vectors

article

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

scientific article published on September 3, 2012

Temporal and spatial expression patterns of Hedgehog receptors in the developing inner and middle ear.

scientific article published in January 2017

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

scientific article

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

scientific article published on 9 January 2016

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

scientific article published on 20 November 2018

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

scientific article published on January 1, 2010

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

scientific article

List of works by Un-Kyung Kim

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

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

A Systematic Survey of Carbonic Anhydrase mRNA Expression During Mammalian Inner Ear Development ⬇️

A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation

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

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

A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia

A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome

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

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

A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

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

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population

A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome

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

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

Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population

C-phycocyanin from Limnothrix Species KNUA002 Alleviates Cisplatin-Induced Ototoxicity by Blocking the Mitochondrial Apoptotic Pathway in Auditory Cells.

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome

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

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

Construction of a DNA chip for screening of genetic hearing loss

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

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

Distinct roles of stereociliary links in the nonlinear sound processing and noise resistance of cochlear outer hair cells

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

Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts.

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

Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss

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

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians

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

Functional evaluation of GJB2 variants in nonsyndromic hearing loss.

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

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

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

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

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

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular Schwannomas ⬇️

Genetic association of MYH genes with hereditary hearing loss in Korea

Hemorrhage in the endolymphatic sac: a cause of hearing fluctuation in enlarged vestibular aqueduct

Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene ⬇️

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

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

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

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

Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

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

Limitations of hearing screening in newborns with PDS mutations.

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

Methionine sulfoxide reductase A, B1 and B2 are likely to be involved in the protection against oxidative stress in the inner ear.

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

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

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

Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation ⬇️

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

Multiplex minisequencing screening for PTC genotype associated with bitter taste perception

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

Nonsyndromic X-linked hearing loss

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

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

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

Pou3f4 deficiency causes defects in otic fibrocytes and stria vascularis by different mechanisms.

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

Region-specific endodermal signals direct neural crest cells to form the three middle ear ossicles

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

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

Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population

Spatiotemporal expression patterns of clusterin in the mouse inner ear.

Targeted Gene Delivery into the Mammalian Inner Ear Using Synthetic Serotypes of Adeno-Associated Virus Vectors

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

Temporal and spatial expression patterns of Hedgehog receptors in the developing inner and middle ear.

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

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

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