Rachel RA - Search Results

1

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.

Rachel RA, Yamamoto EA, Dewanjee MK, May-Simera HL, Sergeev YV, Hackett AN, Pohida K, Munasinghe J, Gotoh N, Wickstead B, Fariss RN, Dong L, Li T, Swaroop A. Rachel RA, et al. Hum Mol Genet. 2015 Jul 1;24(13):3775-91. doi: 10.1093/hmg/ddv123. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859007 Free PMC article.

2

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A. Rachel RA, et al. J Clin Invest. 2012 Apr;122(4):1233-45. doi: 10.1172/JCI60981. Epub 2012 Mar 26. J Clin Invest. 2012. PMID: 22446187 Free PMC article.

3

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.

Rachel RA, Li T, Swaroop A. Rachel RA, et al. Cilia. 2012 Dec 3;1(1):22. doi: 10.1186/2046-2530-1-22. Cilia. 2012. PMID: 23351659 Free PMC article.

4

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis.

Veleri S, Manjunath SH, Fariss RN, May-Simera H, Brooks M, Foskett TA, Gao C, Longo TA, Liu P, Nagashima K, Rachel RA, Li T, Dong L, Swaroop A. Veleri S, et al. Among authors: rachel ra. Nat Commun. 2014 Jun 20;5:4207. doi: 10.1038/ncomms5207. Nat Commun. 2014. PMID: 24947469 Free PMC article.

5

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

Cideciyan AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone EM, Jacobson SG, Swaroop A. Cideciyan AV, et al. Among authors: rachel ra. Hum Mol Genet. 2011 Apr 1;20(7):1411-23. doi: 10.1093/hmg/ddr022. Epub 2011 Jan 18. Hum Mol Genet. 2011. PMID: 21245082 Free PMC article.

6

Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina.

Roger JE, Ranganath K, Zhao L, Cojocaru RI, Brooks M, Gotoh N, Veleri S, Hiriyanna A, Rachel RA, Campos MM, Fariss RN, Wong WT, Swaroop A. Roger JE, et al. Among authors: rachel ra. J Neurosci. 2012 Jan 11;32(2):528-41. doi: 10.1523/JNEUROSCI.3591-11.2012. J Neurosci. 2012. PMID: 22238088 Free PMC article.

7

Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis.

Nasonkin IO, Merbs SL, Lazo K, Oliver VF, Brooks M, Patel K, Enke RA, Nellissery J, Jamrich M, Le YZ, Bharti K, Fariss RN, Rachel RA, Zack DJ, Rodriguez-Boulan EJ, Swaroop A. Nasonkin IO, et al. Among authors: rachel ra. Development. 2013 Mar;140(6):1330-41. doi: 10.1242/dev.086603. Epub 2013 Feb 13. Development. 2013. PMID: 23406904 Free PMC article.

8

Deletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy.

Kim SY, Yang HJ, Chang YS, Kim JW, Brooks M, Chew EY, Wong WT, Fariss RN, Rachel RA, Cogliati T, Qian H, Swaroop A. Kim SY, et al. Among authors: rachel ra. Invest Ophthalmol Vis Sci. 2014 Aug 26;55(9):6031-40. doi: 10.1167/iovs.14-15091. Invest Ophthalmol Vis Sci. 2014. PMID: 25159211 Free PMC article.

9

Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.

Murga-Zamalloa CA, Ghosh AK, Patil SB, Reed NA, Chan LS, Davuluri S, Peränen J, Hurd TW, Rachel RA, Khanna H. Murga-Zamalloa CA, et al. Among authors: rachel ra. J Biol Chem. 2011 Aug 12;286(32):28276-86. doi: 10.1074/jbc.M111.237560. Epub 2011 Jun 17. J Biol Chem. 2011. PMID: 21685394 Free PMC article.

10

Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.

Rachel RA, Nagashima K, O'Sullivan TN, Frost LS, Stefano FP, Marigo V, Boesze-Battaglia K. Rachel RA, et al. PLoS One. 2012;7(9):e42446. doi: 10.1371/journal.pone.0042446. Epub 2012 Sep 11. PLoS One. 2012. PMID: 22984402 Free PMC article.

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