Shirley He

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...

Identification (2004)

Shigeo Yoshida A, James S. Friedman, Todd Carter, Shirley He, Edwin Oh, ...

− mouse retina:

Expression profiling of the developing and mature Nrl-/- mouse retina: Identification of retinal disease candidates and transcriptional regulatory targets of Nrl (2004)

Yoshida, Shigeo, Mears, Alan J., Friedman, James S., Carter, Todd, He, Shirley, Oh, Edwin, ...

The rod photoreceptor-specific neural retina leucine zipper protein Nrl is essential for rod differentiation and plays a critical role in regulating gene expression. In the mouse retina, rods account...

Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl (2004)

Yoshida, Shigeo, Mears, Alan J., Friedman, James S., Carter, Todd, He, Shirley, Oh, Edwin, ...

The rod photoreceptor-specific neural retina leucine zipper protein Nrl is essential for rod differentiation and plays a critical role in regulating gene expression. In the mouse retina, rods account...

Expression profiling of the developing and mature Nrl-/- mouse retina: Identification of retinal disease candidates and transcriptional regulatory targets of Nrl (2004)

Yoshida, Shigeo, Mears, Alan J., Friedman, James S., Carter, Todd, He, Shirley, Oh, Edwin, ...

The rod photoreceptor-specific neural retina leucine zipper protein Nrl is essential for rod differentiation and plays a critical role in regulating gene expression. In the mouse retina, rods account...

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...

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...

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

Kanda, Atsuhiro, Chen, Wei, Othman, Mohammad, Branham, Kari E. H., Brooks, Matthew, Khanna, Ritu, ...

Genetic variants at chromosomes 1q31-32 and 10q26 are strongly associated with susceptibility to age-related macular degeneration (AMD), a common blinding disease of the elderly. We demonstrate, by...