Heon Yung Gee
Heon Yung Gee
Yonsei University College of Medicine, Department of Pharmacology
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Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
H Won, HR Lee, HY Gee, W Mah, JI Kim, J Lee, S Ha, C Chung, ES Jung, ...
Nature 486 (7402), 261-265, 2012
5302012
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
CE Sadowski, S Lovric, S Ashraf, WL Pabst, HY Gee, S Kohl, ...
Journal of the American Society of Nephrology 26 (6), 1279-1289, 2015
3932015
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ...
Cell 150 (3), 533-548, 2012
3192012
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ...
The Journal of clinical investigation 123 (12), 5179-5189, 2013
2702013
Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway
HY Gee, SH Noh, BL Tang, KH Kim, MG Lee
Cell 146 (5), 746-760, 2011
2462011
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
W Zhou, EA Otto, A Cluckey, R Airik, TW Hurd, M Chaki, K Diaz, FP Lach, ...
Nature genetics 44 (8), 910-915, 2012
1992012
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
HY Gee, P Saisawat, S Ashraf, TW Hurd, V Vega-Warner, H Fang, ...
The Journal of clinical investigation 123 (8), 3243-3253, 2013
1972013
Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia
C Austin-Tse, J Halbritter, MA Zariwala, RM Gilberti, HY Gee, N Hellman, ...
The American Journal of Human Genetics 93 (4), 672-686, 2013
1672013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
MA Zariwala, HY Gee, M Kurkowiak, DA Al-Mutairi, MW Leigh, TW Hurd, ...
The American Journal of Human Genetics 93 (2), 336-345, 2013
1662013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ...
The American Journal of Human Genetics 93 (5), 915-925, 2013
1612013
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype
MR Knowles, LE Ostrowski, MW Leigh, PR Sears, SD Davis, WE Wolf, ...
American journal of respiratory and critical care medicine 189 (6), 707-717, 2014
1602014
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
HY Gee, F Zhang, S Ashraf, S Kohl, CE Sadowski, V Vega-Warner, ...
The Journal of clinical investigation 125 (6), 2375-2384, 2015
1532015
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
MR Knowles, LE Ostrowski, NT Loges, T Hurd, MW Leigh, L Huang, ...
The American Journal of Human Genetics 93 (4), 711-720, 2013
1252013
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
DA Braun, CE Sadowski, S Kohl, S Lovric, SA Astrinidis, WL Pabst, ...
Nature genetics 48 (4), 457, 2016
1072016
Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins
R Sheng, Y Chen, HY Gee, E Stec, HR Melowic, NR Blatner, MP Tun, ...
Nature communications 3 (1), 1-9, 2012
1062012
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
P Saisawat, S Kohl, AC Hilger, DY Hwang, HY Gee, GC Dworschak, ...
Kidney international 85 (6), 1310-1317, 2014
1052014
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ...
The Journal of clinical investigation 127 (3), 912-928, 2017
1012017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ...
Nature genetics 49 (10), 1529, 2017
982017
Mutations in EMP2 cause childhood-onset nephrotic syndrome
HY Gee, S Ashraf, X Wan, V Vega-Warner, J Esteve-Rudd, S Lovric, ...
The American Journal of Human Genetics 94 (6), 884-890, 2014
962014
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
H Lu, MCR Galeano, E Ott, G Kaeslin, PJ Kausalya, C Kramer, ...
Nature genetics 49 (7), 1025-1034, 2017
922017
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