List of works - Heon Yung Gee

<i>OSBPL2</i> mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin

scientific article published in 2022

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.

scientific article

A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma.

scientific article

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction

scientific article published on 22 May 2018

A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.

scientific article published on 11 January 2017

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

scientific article published on 25 December 2018

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

scientific article

A small molecule that binds to an ATPase domain of Hsc70 promotes membrane trafficking of mutant cystic fibrosis transmembrane conductance regulator

scientific article

A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children

scientific article published on 12 August 2011

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment

scientific article published on 07 May 2020

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

scientific article

ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer.

scientific article

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

scientific article published on 16 November 2017

Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss

scientific article published in 2021

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

scientific article published on 22 August 2017

Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins.

scientific article

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

scientific article

Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins

scientific article

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

scientific article published on 07 October 2019

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

scientific article published on 31 December 2014

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

scientific article published in 2021

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Expression of YAP and TAZ in molluscum contagiosum virus infected skin.

scientific article published on 12 January 2018

FAT1 mutations cause a glomerulotubular nephropathy

scientific article

Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013).

scientific article

Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3

scientific article published on 03 June 2016

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

scientific article published on 18 February 2019

Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation

scientific article published on 01 January 2020

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.

scientific article published on 7 June 2017

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation

scientific article published on 13 March 2020

Grasp55-/- mice display impaired fat absorption and resistance to high-fat diet-induced obesity

scientific article published on 17 March 2020

Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant

scientific article published in 2021

House dust mite extract activates apical Cl(-) channels through protease-activated receptor 2 in human airway epithelia.

scientific article

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

scientific article published on 16 December 2015

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.

scientific article published on 11 August 2015

Misexpression screen delineates novel genes controlling Drosophila lifespan

scientific article

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

scientific journal article

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

scientific article

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

scientific article published on 10 July 2019

Mutations in SLC26A1 Cause Nephrolithiasis

scientific article published on 18 May 2016

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

scientific article

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

scientific article

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

scientific article published on 13 July 2015

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

scientific article published on 31 May 2015

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

scientific article published in 2021

Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery.

scientific article published on 12 April 2018

Overlooked KCNQ4 variants augment the risk of hearing loss

scientific article published in 2023

PLCE1 regulates the migration, proliferation, and differentiation of podocytes

scientific article published on 01 April 2020

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

scientific article published on 19 January 2016

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review

scientific article published on 21 November 2018

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

scientific article published on 21 August 2019

Recent advances of animal model of focal segmental glomerulosclerosis.

scientific article published on 20 March 2018

SGLT2 inhibition modulates NLRP3 inflammasome activity via ketones and insulin in diabetes with cardiovascular disease

scientific article published on 01 May 2020

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

scientific article published on 27 February 2019

Shank2 mutant mice display a hypersecretory response to cholera toxin

scientific article published on 20 January 2014

Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR

scientific article published on 31 July 2018

Synaptic scaffolding molecule binds to and regulates vasoactive intestinal polypeptide type-1 receptor in epithelial cells

scientific article published in August 2009

Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells

scientific article

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency

article

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion

scientific article published on 25 April 2016

The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis

scientific article

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

scientific article published on 01 April 2019

The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactome

scientific article published on 08 February 2011

Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases

scientific article published on 25 June 2018

Unconventional secretion of transmembrane proteins

scientific article published on 28 March 2018

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

scientific article published on August 2013

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

scientific article published on 8 September 2017

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

scientific article published on 19 December 2017

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

scientific article published in Scientific Reports

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

scientific article published on 30 March 2018

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

List of works by Heon Yung Gee

<i>OSBPL2</i> mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.

A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma.

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction

A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.

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

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

A small molecule that binds to an ATPase domain of Hsc70 promotes membrane trafficking of mutant cystic fibrosis transmembrane conductance regulator

A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins.

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

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

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Expression of YAP and TAZ in molluscum contagiosum virus infected skin.

FAT1 mutations cause a glomerulotubular nephropathy

Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013).

Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation

Grasp55-/- mice display impaired fat absorption and resistance to high-fat diet-induced obesity

Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant

House dust mite extract activates apical Cl(-) channels through protease-activated receptor 2 in human airway epithelia.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.

Misexpression screen delineates novel genes controlling Drosophila lifespan

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

Mutations in SLC26A1 Cause Nephrolithiasis

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

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

Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery.

Overlooked KCNQ4 variants augment the risk of hearing loss

PLCE1 regulates the migration, proliferation, and differentiation of podocytes

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review

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

Recent advances of animal model of focal segmental glomerulosclerosis.

SGLT2 inhibition modulates NLRP3 inflammasome activity via ketones and insulin in diabetes with cardiovascular disease

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

Shank2 mutant mice display a hypersecretory response to cholera toxin

Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR

Synaptic scaffolding molecule binds to and regulates vasoactive intestinal polypeptide type-1 receptor in epithelial cells

Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion

The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactome

Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases

Unconventional secretion of transmembrane proteins

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report