Lista de obras - Heon Yung Gee - Dominio Público Uruguay

<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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

FAT1 mutations cause a glomerulotubular nephropathy

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2021

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Misexpression screen delineates novel genes controlling Drosophila lifespan

artículo científico publicado en 2012

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

Mutations in SLC26A1 Cause Nephrolithiasis

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

artículo científico publicado en 2019

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2018

Overlooked KCNQ4 variants augment the risk of hearing loss

scientific article published in 2023

PLCE1 regulates the migration, proliferation, and differentiation of podocytes

artículo científico publicado en 2020

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Recent advances of animal model of focal segmental glomerulosclerosis.

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Shank2 mutant mice display a hypersecretory response to cholera toxin.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2019

The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactome

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Unconventional secretion of transmembrane proteins

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Lista de obras de 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