Hemant Khanna

An in-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse (2006)

Chang, Bo, Khanna, Hemant, Hawes, Norman, Jimeno, David, He, Shirley, Lillo, Concepcion, ...

Centrosome- and cilia-associated proteins play crucial roles in establishing polarity and regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional candidate...

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005)

Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005)

Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...

Photoreceptor specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors (2004)

Cheng, Hong, Khanna, Hemant, Oh, Edwin C. T., Hicks, David, Mitton, Kenneth P., Swaroop, Anand

NR2E3, a photoreceptor-specific orphan nuclear receptor, is believed to play a pivotal role in the differentiation of photoreceptors. Mutations in the human NR2E3 gene and its mouse ortholog are...

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors (2004)

Cheng, Hong, Khanna, Hemant, Oh, Edwin C.T., Hicks, David, Mitton, Kenneth P., Swaroop, Anand

NR2E3, a photoreceptor-specific orphan nuclear receptor, is believed to play a pivotal role in the differentiation of photoreceptors. Mutations in the human NR2E3 gene and its mouse ortholog are...

Photoreceptor specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors (2004)

Cheng, Hong, Khanna, Hemant, Oh, Edwin C. T., Hicks, David, Mitton, Kenneth P., Swaroop, Anand

NR2E3, a photoreceptor-specific orphan nuclear receptor, is believed to play a pivotal role in the differentiation of photoreceptors. Mutations in the human NR2E3 gene and its mouse ortholog are...

Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor (2003)

Mitton, Kenneth P., Swain, Prabodh K., Khanna, Hemant, Dowd, Mary, Apel, Ingrid J., Swaroop, Anand

NRL (neural retina leucine zipper) is a basic motif leucine zipper transcription factor of the Maf-subfamily. Multiple phosphorylated isoforms of NRL are detected specifically in rod photoreceptors....

Studies towards the photoaffinity labeling of oligosaccharyltransferase (OST). (2002)

Khanna, Hemant.

Dissertation (Ph.D.)--University of Michigan.

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

Khanna, Hemant, Hurd, Toby W., Lillo, Concepcion, Shu, Xinhua, Parapuram, Sunil K., He, Shirley, ...

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost 20% of patients with retinitis pigmentosa. Most mutations are detected in alternatively-spliced RPGR-ORF15...

Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL

Oh, Edwin C. T., Khan, Naheed, Novelli, Elena, Khanna, Hemant, Strettoi, Enrica, Swaroop, Anand

Networks of transcriptional regulatory proteins dictate specification of neural lineages from multipotent retinal progenitors. Rod photoreceptor differentiation requires the basic motif–leucine...

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis Communicated by Andrew Wilkie This article is a US Government work and, as such, is in the public domain in the United States of America.

Cideciyan, Artur V., Aleman, Tomas S., Jacobson, Samuel G., Khanna, Hemant, Sumaroka, Alexander, Aguirre, Geoffrey K., ...

Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis...

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

McEwen, Dyke P., Koenekoop, Robert K., Khanna, Hemant, Jenkins, Paul M., Lopez, Irma, Swaroop, Anand, ...

Cilia regulate diverse functions such as motility, fluid balance, and sensory perception. The cilia of olfactory sensory neurons (OSNs) compartmentalize the signaling proteins necessary for odor...