Publications


Developmental Genetics Lab



Research Articles

  1. Choi H, Kim BG, Kim YH, Lee SJ, Lee YJ (co-corresponding author), Oh SP (2022) BMP10 functions independently from BMP9 for the development of a proper arteriovenous network. Angiogenesis. doi:10.1007/s10456-022-09859-0

  2. Pham HTA, Lee S, Lee YJ (2022) Bicistronic reporter mice for monitoring of Fgf21 expression. Biochem Biophys Res Commun 619:104-109. doi:10.1016/j.bbrc.2022.06.045

  3. Lee JH, Lee SH, Lee EH, Cho JY, Song DK, Lee YJ, Kwon TK, Oh BC, Cho KW, Osborne TF, Jeon TI, Im SS (2022) SCAP deficiency facilitates obesity and insulin resistance through shifting adipose tissue macrophage polarization. J Adv Res. doi:10.1016/j.jare.2022.05.013

  4. Kim NJ, Lee KH, Son Y, Nam AR, Moon EH, Pyun JH, Park J, Kang JS, Lee YJ, Cho JY (2021) Spatiotemporal expression of long noncoding RNA Moshe modulates heart cell lineage commitment. RNA Biol 18 (sup2):640-654. doi:10.1080/15476286.2021.1976549

  5. Kim BG, Jung JH, Kim MJ, Moon EH, Oh JH, Park JW, Cha HE, Kim JH, Kim YJ, Chung JW, Hahm KB, Jin HR, Jang YJ, Kim SW, Chung SK, Kim DW, Lee YJ (co-corresponding author), Kim ST (2021) Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia. Clin Exp Otorhinolaryngol 14 (4):399-406. doi:10.21053/ceo.2020.02124

  6. Son Y, Choi C, Song C, Im H, Cho YK, Son JS, Joo S, Joh Y, Lee YJ (co-corresponding author), Seong JK, Lee YH (2021) Development of CIDEA reporter mouse model and its application for screening thermogenic drugs. Sci Rep 11 (1):18429. doi:10.1038/s41598-021-97959-0

  7. Birling MC, Yoshiki A, Adams DJ, Ayabe S, Beaudet AL, Bottomley J, Bradley A, Brown SDM, Bürger A, Bushell W, Chiani F, Chin HG, Christou S, Codner GF, DeMayo FJ, Dickinson ME, Doe B, Donahue LR, Fray MD, Gambadoro A, Gao X, Gertsenstein M, Gomez-Segura A, Goodwin LO, Heaney JD, Hérault Y, de Angelis MH, Jiang ST, Justice MJ, Kasparek P, King RE, Kühn R, Lee H, Lee YJ, Liu Z, Lloyd KCK, Lorenzo I, Mallon AM, McKerlie C, Meehan TF, Fuentes VM, Newman S, Nutter LMJ, Oh GT, Pavlovic G, Ramirez-Solis R, Rosen B, Ryder EJ, Santos LA, Schick J, Seavitt JR, Sedlacek R, Seisenberger C, Seong JK, Skarnes WC, Sorg T, Steel KP, Tamura M, Tocchini-Valentini GP, Wang CL, Wardle-Jones H, Wattenhofer-Donzé M, Wells S, Wiles MV, Willis BJ, Wood JA, Wurst W, Xu Y, Teboul L, Murray SA (2021) A resource of targeted mutant mouse lines for 5,061 genes. Nat Genet 53 (4):416-419. doi:10.1038/s41588-021-00825-y

  8. Kim YH, Vu PN, Choe SW, Jeon CJ, Arthur HM, Vary CPH, Lee YJ (co-corresponding author), Oh SP (2020) Overexpression of Activin Receptor-Like Kinase 1 in Endothelial Cells Suppresses Development of Arteriovenous Malformations in Mouse Models of Hereditary Hemorrhagic Telangiectasia. Circ Res 127 (9):1122-1137. doi:10.1161/circresaha.119.316267

  9. Jang AY, Kim BG, Kwon S, Seo J, Kim HK, Chang HJ, Chang SA, Cho GY, Rhee SJ, Jung HO, Kim KH, Seo HS, Kim KH, Shin J, Lee JS, Kim M, Lee YJ (co-corresponding author), Chung WJ (2020) Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort. PLoS One 15 (9):e0238698. doi:10.1371/journal.pone.0238698

  10. Lee YJ (2020) Cell Fate Determination of Lymphatic Endothelial Cells. Int J Mol Sci 21 (13). doi:10.3390/ijms21134790

  11. Ankamreddy H, Koo H, Lee YJ, Bok J (2020) CXCL12 is required for stirrup-shaped stapes formation during mammalian middle ear development. Dev Dyn 249 (9):1117-1126. doi:10.1002/dvdy.180

  12. Moon EH, Kim YH, Vu PN, Yoo H, Hong K, Lee YJ (co-corresponding author), Oh SP (2020) TMEM100 is a key factor for specification of lymphatic endothelial progenitors. Angiogenesis 23 (3):339-355. doi:10.1007/s10456-020-09713-1

  13. Kim OH, Booth CJ, Choi HS, Lee J, Kang J, Hur J, Jung WJ, Jung YS, Choi HJ, Kim H, Auh JH, Kim JW, Cha JY, Lee YJ, Lee CS, Choi C, Jung YJ, Yang JY, Im SS, Lee DH, Cho SW, Kim YB, Park KS, Park YJ, Oh BC (2020) High-phytate/low-calcium diet is a risk factor for crystal nephropathies, renal phosphate wasting, and bone loss. Elife 9. doi:10.7554/eLife.52709

  14. Lee YJ (2020) Knockout Mouse Models for Peroxiredoxins. Antioxidants (Basel) 9 (2). doi:10.3390/antiox9020182

  15. Yoo H, Lee YJ (co-first author), Park C, Son D, Choi DY, Park JH, Choi HJ, La HW, Choi YJ, Moon EH, Saur D, Chung HM, Song H, Do JT, Jang H, Lee DR, Park C, Lee OH, Cho SG, Hong SH, Kong G, Kim JH, Choi Y, Hong K (2020) Epigenetic priming by Dot1l in lymphatic endothelial progenitors ensures normal lymphatic development and function. Cell Death Dis 11 (1):14. doi:10.1038/s41419-019-2201-1

  16. Ha Thi HT, Kim HY, Lee YJ, Kim SJ, Hong S (2019) SMAD7 in keratinocytes promotes skin carcinogenesis by activating ATM-dependent DNA repair and an EGFR-mediated cell proliferation pathway. Carcinogenesis 40 (1):112-120. doi:10.1093/carcin/bgy121

  17. Kang JK, Kim OH, Hur J, Yu SH, Lamichhane S, Lee JW, Ojha U, Hong JH, Lee CS, Cha JY, Lee YJ, Im SS, Park YJ, Choi CS, Lee DH, Lee IK, Oh BC (2017) Increased intracellular Ca(2+) concentrations prevent membrane localization of PH domains through the formation of Ca(2+)-phosphoinositides. Proc Natl Acad Sci U S A 114 (45):11926-11931. doi:10.1073/pnas.1706489114

  18. Kim BG, Kim YH, Stanley EL, Garrido-Martin EM, Lee YJ (co-corresponding author), Oh SP (2017) CXCL12-CXCR4 signalling plays an essential role in proper patterning of aortic arch and pulmonary arteries. Cardiovasc Res 113 (13):1677-1687. doi:10.1093/cvr/cvx188

  19. Kim YH, Kim MJ, Choe SW, Sprecher D, Lee YJ, S PO (2017) Selective effects of oral antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia. J Thromb Haemost 15 (6):1095-1102. doi:10.1111/jth.13683

  20. Cho J, Zhang Y, Park SY, Joseph AM, Han C, Park HJ, Kalavalapalli S, Chun SK, Morgan D, Kim JS, Someya S, Mathews CE, Lee YJ, Wohlgemuth SE, Sunny NE, Lee HY, Choi CS, Shiratsuchi T, Oh SP, Terada N (2017) Mitochondrial ATP transporter depletion protects mice against liver steatosis and insulin resistance. Nat Commun 8:14477. doi:10.1038/ncomms14477

  21. Park SJ, Choi YS, Lee S, Lee YJ, Hong S, Han S, Kim BC (2016) BIX02189 inhibits TGF-β1-induced lung cancer cell metastasis by directly targeting TGF-β type I receptor. Cancer Lett 381 (2):314-322. doi:10.1016/j.canlet.2016.08.010

  22. Sung YH, Baek I-J, Kim YH, Gho YS, Oh SP, Lee YJ (co-corresponding author), Lee H-W (2016) PIERCE1 is critical for specification of left-right asymmetry in mice. Sci Rep 6:27932. doi:10.1038/srep27932

  23. Yoo H, Son D, Lee YJ, Hong K (2016) Mouse JMJD4 is dispensable for embryogenesis. Mol Reprod Dev 83 (7):588-593. doi:10.1002/mrd.22654

  24. Cho J, Seo J, Lim CH, Yang L, Shiratsuchi T, Lee MH, Chowdhury RR, Kasahara H, Kim JS, Oh SP, Lee YJ (co-corresponding author), Terada N (2015) Mitochondrial ATP transporter Ant2 depletion impairs erythropoiesis and B lymphopoiesis. Cell Death Differ 22 (9):1437-1450. doi:10.1038/cdd.2014.230

  25. Moon E-H, Kim YS, Seo J, Lee S, Lee YJ (co-corresponding author), Oh SP (2015) Essential role for TMEM100 in vascular integrity but limited contributions to the pathogenesis of hereditary haemorrhagic telangiectasia. Cardiovasc Res 105 (3):353-360. doi:10.1093/cvr/cvu260

  26. Park S, Kang JM, Kim SJ, Kim H, Hong S, Lee YJ, Kim SJ (2015) Smad7 enhances ATM activity by facilitating the interaction between ATM and Mre11-Rad50-Nbs1 complex in DNA double-strand break repair. Cell Mol Life Sci 72 (3):583-596. doi:10.1007/s00018-014-1687-z

  27. Garrido-Martin EM, Nguyen HL, Cunningham TA, Choe SW, Jiang Z, Arthur HM, Lee YJ, Oh SP (2014) Common and distinctive pathogenetic features of arteriovenous malformations in hereditary hemorrhagic telangiectasia 1 and hereditary hemorrhagic telangiectasia 2 animal models--brief report. Arteriosclerosis, thrombosis, and vascular biology 34 (10):2232-2236. doi:10.1161/atvbaha.114.303984

  28. Han C, Choe SW, Kim YH, Acharya AP, Keselowsky BG, Sorg BS, Lee YJ, Oh SP (2014) VEGF neutralization can prevent and normalize arteriovenous malformations in an animal model for hereditary hemorrhagic telangiectasia 2. Angiogenesis 17 (4):823-830. doi:10.1007/s10456-014-9436-3

  29. Choi EJ, Kim YH, Choe SW, Tak YG, Garrido-Martin EM, Chang M, Lee YJ, Oh SP (2013) Enhanced responses to angiogenic cues underlie the pathogenesis of hereditary hemorrhagic telangiectasia 2. PLoS One 8 (5):e63138. doi:10.1371/journal.pone.0063138

  30. Ha M, Kim YJ, Kwon KA, Hahm KB, Kim M-J, Kim DK, Lee YJ, Oh SP (2012) Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient. World J Gastroenterol 18 (15):1840-1844. doi:10.3748/wjg.v18.i15.1840

  31. Kim JH, Lee S-J, Lee HC, Lee JY, Lee YJ, Chung W-J, Chang H-J (2012) A Case of Hereditable Pulmonary Hypertension. Korean J Med 83 (4):494-497. doi:10.3904/kjm.2012.83.4.494

  32. Kim SM, Koo EH, Park SM, Park JW, Ki CS, Lee YJ, Chang S-A (2012) A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation. Korean J Med 83 (2):238-242. doi:10.3904/kjm.2012.83.2.238

  33. Nguyen HL, Lee YJ, Shin J, Lee E, Park SO, McCarty JH, Oh SP (2011) TGF-β signaling in endothelial cells, but not neuroepithelial cells, is essential for cerebral vascular development. Laboratory investigation; a journal of technical methods and pathology 91 (11):1554-1563. doi:10.1038/labinvest.2011.124

  34. Kim M-J, Kim S-T, Lee H-D, Lee K-Y, Seo J, Lee J-B, Lee YJ (co-corresponding author), Oh SP (2011) Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. BMC Medical Genetics 12 (1):130. doi:10.1186/1471-2350-12-130

  35. Lee YJ (2010) Genetics in heritable pulmonary arterial hypertension. Korean J Med 78 (1):20-27

  36. Moon E-H, Kim M-J, Ko KS, Kim YS, Seo J, Oh SP, Lee YJ (2010) Generation of mice with a conditional and reporter allele for Tmem100. Genesis 48 (11):673-678. doi:10.1002/dvg.20674

  37. Lee YJ, McPherron A, Choe S, Sakai Y, Chandraratna RA, Lee SJ, Oh SP (2010) Growth differentiation factor 11 signaling controls retinoic acid activity for axial vertebral development. Dev Biol 347 (1):195-203. doi:10.1016/j.ydbio.2010.08.022

  38. May WS, Hoare K, Hoare S, Reinhard MK, Lee YJ, Oh SP (2010) Tnk1/Kos1: a novel tumor suppressor. Trans Am Clin Climatol Assoc 121:281-292; discussion 292-283

  39. Park SO, Wankhede M, Lee YJ, Choi E-J, Fliess N, Choe S-W, Oh S-H, Walter G, Raizada MK, Sorg BS, Oh SP (2009) Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia. J Clin Invest 119 (11):3487-3496. doi:10.1172/JCI39482

  40. Hoare S, Hoare K, Reinhard MK, Lee YJ, Oh SP, May WS (2008) Tnk1/Kos1 knockout mice develop spontaneous tumors. Cancer Res 68 (21):8723-8732

  41. Bennett RL, Blalock WL, Choi E-J, Lee YJ, Zhang Y, Zhou L, Paul Oh S, Stratford May W (2008) RAX is required for fly neuronal development and mouse embryogenesis. Mechanisms of Development 125 (9-10):777-785

  42. Hong KH, Lee YJ, Lee E, Park SO, Han C, Beppu H, Li E, Raizada MK, Bloch KD, Oh SP (2008) Genetic ablation of the BMPR2 gene in pulmonary endothelium is sufficient to predispose to pulmonary arterial hypertension. Circulation 118 (7):722-730

  43. Park SO, Lee YJ, Seki T, Hong KH, Fliess N, Jiang Z, Park A, Wu X, Kaartinen V, Roman BL, Oh SP (2008) ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2. Blood 111 (2):633-642. doi:10.1182/blood-2007-08-107359

  44. Joo JH, Lee YJ, Munguba GC, Park S, Taxter TJ, Elsagga MY, Jackson MR, Oh SP, Sugrue SP (2007) Role of Pinin in neural crest, dorsal dermis, and axial skeleton development and its involvement in the regulation of Tcf/Lef activity in mice. Dev Dyn 236 (8):2147-2158

  45. Lee YJ, Hong KH, Yun J, Oh SP (2006) Generation of activin receptor type IIB isoform-specific hypomorphic alleles. Genesis 44 (10):487-494

  46. Yang S, Lee YJ (co-first author), Kim JM, Park S, Peris J, Laipis P, Park YS, Chung JH, Oh SP (2006) A murine model for human sepiapterin-reductase deficiency. American journal of human genetics 78 (4):575-587

  47. Park S, Lee YJ, Lee HJ, Seki T, Hong KH, Park J, Beppu H, Lim IK, Yoon JW, Li E, Kim SJ, Oh SP (2004) B-cell translocation gene 2 (Btg2) regulates vertebral patterning by modulating bone morphogenetic protein/smad signaling. Mol Cell Biol 24 (23):10256-10262

  48. Kanadia RN, Urbinati CR, Crusselle VJ, Luo D, Lee YJ, Harrison JK, Oh SP, Swanson MS (2003) Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Gene Expr Patterns 3 (4):459-462. doi:10.1016/s1567-133x(03)00064-4

  49. Yun J, Park CW, Lee YJ, Chung JH (2003) Allele-specific methylation at the promoter-associated CpG island of mouse Copg2. Mamm Genome 14 (6):376-382. doi:10.1007/s00335-002-2252-x

  50. Oh SP, Yeo CY, Lee YJ, Schrewe H, Whitman M, Li E (2002) Activin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning. Genes Dev 16 (21):2749-2754

  51. Lee YJ, Kim H, Chung JH, Lee Y (2001) Testis-specific expression of an intronless gene encoding a human poly(A) polymerase. Mol Cells 11 (3):379-385

  52. Kim J, Hahn Y, Sohn EH, Lee YJ, Yun JH, Kim JM, Chung JH (2001) Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry 70 (5):618-623. doi:10.1136/jnnp.70.5.618

  53. Jeong S, Lee YJ, Jang JS, Park CW, Chung JH, Seong JK, Lee KK, Yu DY (2000) A novel epigenetic control operating on Vme1+ locus leads to variegated monoallelic expression. Biochem Biophys Res Commun 279 (3):884-890. doi:10.1006/bbrc.2000.4017

  54. Lee YJ, Lee Y, Chung JH (2000) An intronless gene encoding a poly(A) polymerase is specifically expressed in testis. FEBS Lett 487 (2):287-292. doi:10.1016/s0014-5793(00)02367-x

  55. Hahn Y, Lee YJ, Yun JH, Yang SK, Park CW, Mita K, Huh TL, Rhee M, Chung JH (2000) Duplication of genes encoding non-clathrin coat protein gamma-COP in vertebrate, insect and plant evolution. FEBS Lett 482 (1-2):31-36. doi:10.1016/s0014-5793(00)02033-0

  56. Lee YJ, Park CW, Hahn Y, Park J, Lee J, Yun JH, Hyun B, Chung JH (2000) Mit1/Lb9 and Copg2, new members of mouse imprinted genes closely linked to Peg1/Mest(1). FEBS Lett 472 (2-3):230-234. doi:10.1016/s0014-5793(00)01461-7

  57. Lee YJ, Ahn JK, Chung JH (2000) Expression of murine poly(A) binding protein II gene in testis. IUBMB Life 49 (1):57-61. doi:10.1080/713803589

  58. Kim MS, Park BH, Kim S, Lee YJ, Chung JH, Lee Y (1998) Complementation of the growth defect of an rnpA49 mutant of Escherichia coli by overexpression of arginine tRNA(CCG). Biochem Mol Biol Int 46 (6):1153-1160. doi:10.1080/15216549800204712

  59. Lee YJ, Lee J, Yang IC, Hahn Y, Lee Y, Chung JH (1998) Genomic structure and expression of murine poly(A) binding protein II gene. Biochimica et biophysica acta 1395 (1):40-46. doi:10.1016/s0167-4781(97)00147-4

  60. Kim DH, Lee YT, Lee YJ, Chung JH, Lee BL, Choi BS, Lee Y (1998) Bacterial expression of tenecin 3, an insect antifungal protein isolated from Tenebrio molitor, and its efficient purification. Mol Cells 8 (6):786-789

  61. Lee YJ, Chung TJ, Park CW, Hahn Y, Chung JH, Lee BL, Han DM, Jung YH, Kim S, Lee Y (1996) Structure and expression of the tenecin 3 gene in Tenebrio molitor. Biochem Biophys Res Commun 218 (1):6-11. doi:10.1006/bbrc.1996.0002