header logo image header logo text
Downloads Login
Research
General Information
ZIRC
ZFIN ID: ZDB-PERS-110725-2
Khanna, Hemant
Email: hemant.khanna@umassmed.edu
URL: http://www.umassmed.edu/ophthalmology/faculty/khanna.cfm
Affiliation:
Address: Department of Ophthalmology University of Massachusetts Medical School 381 Plantation St Biotech 5, Suite 250 Worcester, MA 01605 USA
Country:
Phone: 508-856-8991
Fax: 508-856-1552
Orcid ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Luo, N., West, C., Murga-Zamalloa, C., Sun, L., Anderson, R.M., Wells, C., Weinreb, R.N., Travers, J.B., Khanna, H., and Sun, Y. (2012) OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. Human molecular genetics. 21(15):3333-3344
Rachel, R.A., May-Simera, H.L., Veleri, S., Gotoh, N., Choi, B.Y., Murga-Zamalloa, C., McIntyre, J.C., Marek, J., Lopez, I., Hackett, A.N., Brooks, M., den Hollander, A.I., Beales, P.L., Li, T., Jacobson, S.G., Sood, R., Martens, J.R., Liu, P., Friedman, T.B., Khanna, H., Koenekoop, R.K., Kelley, M.W., and Swaroop, A. (2012) Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J. Clin. Invest.. 122(4):1233-1245
Murga-Zamalloa, C.A., Ghosh, A.K., Patil, S.B., Reed, N.A., Chan, L.S., Davuluri, S., Peranen, J., Hurd, T.W., Rachel, R.A., and Khanna, H. (2011) Accumulation of RAF-1 kinase inhibitory protein (RKIP) is associated with CEP290-mediated photoreceptor degeneration in ciliopathies. The Journal of biological chemistry. 286(32):28276-86
Chakarova, C.F., Khanna, H., Shah, A.Z., Patil, S.B., Sedmak, T., Murga-Zamalloa, C.A., Papaioannou, M.G., Nagel-Wolfrum, K., Lopez, I., Munro, P., Cheetham, M., Koenekoop, R.K., Rios, R.M., Matter, K., Wolfrum, U., Swaroop, A., and Bhattacharya, S.S. (2011) TOPORS, Implicated in Retinal Degeneration, is a Cilia-Centrosomal Protein. Human molecular genetics. 20(5):975-987
Patil, S.B., Hurd, T.W., Ghosh, A.K., Murga-Zamalloa, C.A., and Khanna, H. (2011) Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants. PLoS One. 6(6):e21379
Hurd, T., Zhou, W., Jenkins, P., Liu, C.J., Swaroop, A., Khanna, H., Martens, J., Hildebrandt, F., and Margolis, B. (2010) The Retinitis Pigmentosa Protein RP2 Interacts With Polycystin 2 and Regulates Cilia-Mediated Vertebrate Development. Human molecular genetics. 19(22):4330-4344
Otto, E.A., Hurd, T.W., Airik, R., Chaki, M., Zhou, W., Stoetzel, C., Patil, S.B., Levy, S., Ghosh, A.K., Murga-Zamalloa, C.A., van Reeuwijk, J., Letteboer, S.J., Sang, L., Giles, R.H., Liu, Q., Coene, K.L., Estrada-Cuzcano, A., Collin, R.W., McLaughlin, H.M., Held, S., Kasanuki, J.M., Ramaswami, G., Conte, J., Lopez, I., Washburn, J., Macdonald, J., Hu, J., Yamashita, Y., Maher, E.R., Guay-Woodford, L.M., Neumann, H.P., Obermüller, N., Koenekoop, R.K., Bergmann, C., Bei, X., Lewis, R.A., Katsanis, N., Lopes, V., Williams, D.S., Lyons, R.H., Dang, C.V., Brito, D.A., Dias, M.B., Zhang, X., Cavalcoli, J.D., Nürnberg, G., Nürnberg, P., Pierce, E.A., Jackson, P.K., Antignac, C., Saunier, S., Roepman, R., Dollfus, H., Khanna, H., and Hildebrandt, F. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genetics. 42(10):840-850
O'Toole, J.F., Liu, Y., Davis, E.E., Westlake, C.J., Attanasio, M., Otto, E.A., Seelow, D., Nurnberg, G., Becker, C., Nuutinen, M., Kärppä, M., Ignatius, J., Uusimaa, J., Pakanen, S., Jaakkola, E., van den Heuvel, L.P., Fehrenbach, H., Wiggins, R., Goyal, M., Zhou, W., Wolf, M.T., Wise, E., Helou, J., Allen, S.J., Murga-Zamalloa, C.A., Ashraf, S., Chaki, M., Heeringa, S., Chernin, G., Hoskins, B.E., Chaib, H., Gleeson, J., Kusakabe, T., Suzuki, T., Isaac, R.E., Quarmby, L.M., Tennant, B., Fujioka, H., Tuominen, H., Hassinen, I., Lohi, H., van Houten, J.L., Rotig, A., Sayer, J.A., Rolinski, B., Freisinger, P., Madhavan, S.M., Herzer, M., Madignier, F., Prokisch, H., Nurnberg, P., Jackson, P., Khanna, H., Katsanis, N., and Hildebrandt, F. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest.. 120(3):791-802
Ghosh, A.K., Murga-Zamalloa, C.A., Chan, L., Hitchcock, P.F., Swaroop, A., and Khanna, H. (2010) Human retinopathy-associated ciliary protein Retinitis Pigmentosa GTPase Regulator (RPGR) regulates cilia-dependent vertebrate development. Human molecular genetics. 19(1):90-98
Khanna, H., Davis, E.E., Murga-Zamalloa, C.A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A.I., Zonneveld, M.N., Othman, M.I., Waseem, N., Chakarova, C.F., Maubaret, C., Diaz-Font, A., Macdonald, I., Muzny, D.M., Wheeler, D.A., Morgan, M., Lewis, L.R., Logan, C.V., Tan, P.L., Beer, M.A., Inglehearn, C.F., Lewis, R.A., Jacobson, S.G., Bergmann, C., Beales, P.L., Attié-Bitach, T., Johnson, C.A., Otto, E.A., Bhattacharya, S.S., Hildebrandt, F., Gibbs, R.A., Koenekoop, R.K., Swaroop, A., and Katsanis, N. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41(6):739-745

NON-ZEBRAFISH PUBLICATIONS