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Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Failler M, et al. Among authors: kim j. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. Am J Hum Genet. 2014. PMID: 24882706 Free PMC article.
CCDC41 is required for ciliary vesicle docking to the mother centriole.
Joo K, Kim CG, Lee MS, Moon HY, Lee SH, Kim MJ, Kweon HS, Park WY, Kim CH, Gleeson JG, Kim J. Joo K, et al. Among authors: kim cg, kim ch, kim j, kim mj. Proc Natl Acad Sci U S A. 2013 Apr 9;110(15):5987-92. doi: 10.1073/pnas.1220927110. Epub 2013 Mar 25. Proc Natl Acad Sci U S A. 2013. PMID: 23530209 Free PMC article.
Export of membrane proteins from the Golgi complex to the primary cilium requires the kinesin motor, KIFC1.
Lee SH, Joo K, Jung EJ, Hong H, Seo J, Kim J. Lee SH, et al. Among authors: kim j. FASEB J. 2018 Feb;32(2):957-968. doi: 10.1096/fj.201700563R. Epub 2018 Jan 4. FASEB J. 2018. PMID: 29042452
Our results suggest that KIFC1 plays roles in the Golgi exit of ciliary receptors and in the recruitment of ciliogenesis regulators.-Lee, S.-H., Joo, K., Jung, E. J., Hong, H., Seo, J., Kim, J. Export of membrane proteins from the Golgi complex to the …
Our results suggest that KIFC1 plays roles in the Golgi exit of ciliary receptors and in the recruitment of ciliogenesis regulators.-Lee, S. …
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Roosing S, et al. Among authors: kim s, kim j. Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602. Elife. 2015. PMID: 26026149 Free PMC article.
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Kang HG, Lee HK, Ahn YH, Joung JG, Nam J, Kim NK, Ko JM, Cho MH, Shin JI, Kim J, Park HW, Park YS, Ha IS, Chung WY, Lee DY, Kim SY, Park WY, Cheong HI. Kang HG, et al. Among authors: kim sy, kim j, kim nk. Exp Mol Med. 2016 Aug 5;48(8):e251. doi: 10.1038/emm.2016.63. Exp Mol Med. 2016. PMID: 27491411 Free PMC article.
IFT46 plays an essential role in cilia development.
Lee MS, Hwang KS, Oh HW, Ji-Ae K, Kim HT, Cho HS, Lee JJ, Yeong Ko J, Choi JH, Jeong YM, You KH, Kim J, Park DS, Nam KH, Aizawa S, Kiyonari H, Shioi G, Park JH, Zhou W, Kim NS, Kim CH. Lee MS, et al. Among authors: kim ns, kim ch, kim j, kim ht. Dev Biol. 2015 Apr 15;400(2):248-57. doi: 10.1016/j.ydbio.2015.02.009. Epub 2015 Feb 24. Dev Biol. 2015. PMID: 25722189 Free PMC article.
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