about
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor functionDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansMutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotypeMutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndromeMutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013).Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityA small molecule that binds to an ATPase domain of Hsc70 promotes membrane trafficking of mutant cystic fibrosis transmembrane conductance regulator.Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.Defects of CRB2 cause steroid-resistant nephrotic syndrome.Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesFAT1 mutations cause a glomerulotubular nephropathyMisexpression screen delineates novel genes controlling Drosophila lifespanIFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins.Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisThe HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3Mutations in SLC26A1 Cause NephrolithiasisMutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactome.Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins.Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.House dust mite extract activates apical Cl(-) channels through protease-activated receptor 2 in human airway epithelia.Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular DystrophyARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children.
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description
researcher ORCID ID = 0000-0002-8741-6177
@en
wetenschapper
@nl
name
Heon Yung Gee
@ast
Heon Yung Gee
@en
Heon Yung Gee
@es
Heon Yung Gee
@nl
type
label
Heon Yung Gee
@ast
Heon Yung Gee
@en
Heon Yung Gee
@es
Heon Yung Gee
@nl
prefLabel
Heon Yung Gee
@ast
Heon Yung Gee
@en
Heon Yung Gee
@es
Heon Yung Gee
@nl
P106
P21
P31
P496
0000-0002-8741-6177