Hemant Khanna, Ph.D.
Publications
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attie-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009 [Epub ahead of print].
Tsang WY, Bossard C, Khanna H, Peranen J, Swaroop A, Malhotra V, Dynlacht BD. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell 2008 [in press].
Siffroi-Fernandez S, Felder-Schmittbuhl MP, Khanna H, Swaroop A, Hicks D. FGF19 Exhibits neuroprotective effects on adult mammalian photoreceptors in vitro. Invest Ophthalmol Vis Sci 2008;49:1696-1704.
McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci USA 2007;104:15917-15922.
He S, Parapuram SK, Hurd TW, Behnam B, Margolis B, Swaroop A, Khanna H. Retinitis pigmentosa GTPase regulator (RPGR) protein isoforms in mammalian retina: Insights into x-linked retinitis pigmentosa and associated ciliopathies. Vision Res 2007 [Epub ahead of print].
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet 2007;81:1098-1103.
Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis. Hum Mutat 2007;28:1074-1083.
Oh EC, Khan N, Novelli E, Khanna H, Strettoi E, Swaroop A. Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci 2007;104:1679-1684. Epub 2007 Jan 22.
Khanna H, Akimoto M, Siffroi-Fernandez S, et al. Retinoic acid regulates the expression of photoreceptor transcription factor NRL. J Biol Chem 2006;281:27327-2734. Epub 2006 Jul 19.
Chang B, Khanna H, Hawes N, et al. In-frame deletion in the novel centrosomal protein CEP290/NPHP6 alters its interaction with RPGR and leads to early-onset retinal degeneration. Hum Mol Genet 2006;5:1847-1857.
Sayer JA, Otto EA, O’Toole JF, et al. A novel centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4/CREB2. Nat Genet 2006;38:674-681.
Khanna H, Hurd TW, Lillo C, et al. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem 2005;280:33580-33587.
Otto EA, Loeys B, Khanna H, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005;37:282-288.
Shu X, Fry, AM, Tulloch B, et al. RPGR ORF15 isoform co-localises with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum Mol Genet 2005;14:1183-1197.
Friedman JS, Khanna H, Swain PK, et al. The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein. J Biol Chem 2004;279:47233-47241.
Cheng H, Khanna H, Oh EC, et al. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet 2004;13:1563-1575.
Mitton KP, Swain PK, Khanna H, et al. Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor. Hum Mol Genet 2003;12:365-373.