Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas

por Murga-Zamalloa, Carlos A., Desai, Nimit J., Hildebrandt, Friedhelm, Khanna, Hemant
Publicado 2010

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

por Murga-Zamalloa, Carlos A., Atkins, Stephen J., Peranen, Johan, Swaroop, Anand, Khanna, Hemant
Publicado 2010

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

por Patil, Suresh B., Hurd, Toby W., Ghosh, Amiya K., Murga-Zamalloa, Carlos A., Khanna, Hemant
Publicado 2011

Unexpected disseminated histoplasmosis detected by bone marrow biopsy in a solid organ transplant patient

por Simon, Caroline T., Murga‐Zamalloa, Carlos A., Bachman, Michael A., Petty, Lindsay A., Choi, Sarah M.
Publicado 2017

CSPP Is a Ciliary Protein Interacting with Nephrocystin 8 and Required for Cilia Formation

por Patzke, Sebastian, Redick, Sambra, Warsame, Abdirashid, Murga-Zamalloa, Carlos A., Khanna, Hemant, Doxsey, Stephen, Stokke, Trond
Publicado 2010

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

por Luo, Na, West, Callah C., Murga-Zamalloa, Carlos A., Sun, Lou, Anderson, Ryan M., Wells, Clark D., Weinreb, Robert N., Travers, Jeffrey B., Khanna, Hemant, Sun, Yang
Publicado 2012

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

por Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas
Publicado 2009

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

por Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen, Letteboer, Stef J.F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko, Maher, Eamonn R., Guay-Woodford, Lisa, Neumann, Hartmut P.H., Obermüller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu, Lewis, Richard A., Katsanis, Nicholas, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Mónica Bettencourt, Zhang, Xinmin, Nürnberg, Gudrun, Nürnberg, Peter, Pierce, Eric, Jackson, Peter, Antignac, Corinne, Saunier, Sophie, Roepman, Ronald, Dollfus, Helene, Khanna, Hemant, Hildebrandt, Friedhelm
Publicado 2010