Search Results - "Nathans, J."

The role of the hypoxia response in shaping retinal vascular development in the absence of Norrin/Frizzled4 signaling by Rattner, Amir, Wang, Yanshu, Zhou, Yulian, Williams, John, Nathans, Jeremy

“…To define the role of hypoxia and vascular endothelial growth factor (VEGF) in modifying the pattern, density, and permeability of the retinal vasculature in…”
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Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments by Sun, Hui, Nathans, Jeremy

“…Stargardt disease (SD; MIM #248200) is an autosomal recessive macular dystrophy characterized by central vision loss, progressive bilateral atrophy of the…”
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Apoptotic Photoreceptor Cell Death in Mouse Models of Retinitis Pigmentosa by Portera-Cailliau, C., C. -H. Sung, Nathans, J., Adler, R.

“…Retinitis pigmentosa (RP) is a group of inherited human diseases in which photoreceptor degeneration leads to visual loss and eventually to blindness. Although…”
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POU Domain Factor Brn-3b is Required for the Development of a Large Set of Retinal Ganglion Cells by Gan, Lin, Xiang, Mengqing, Zhou, Lijuan, Wagner, Daniel S., Klein, William H., Nathans, Jeremy

“…The three members of the Brn-3 family of POU domain transcription factors are found in highly restricted sets of central nervous system neurons. Within the…”
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Fibroblast Growth Factor (FGF) Homologous Factors: New Members of the FGF Family Implicated in Nervous System Development by Smallwood, Philip M., Munoz-Sanjuan, Ignacio, Tong, Patrick, Macke, Jennifer P., Stewart H. C. Hendry, Gilbert, Debra J., Copeland, Neal G., Jenkins, Nancy A., Nathans, Jeremy

“…Four new members of the fibroblast growth factor (FGF) family, referred to as fibroblast growth factor homologous factors (FHFs), have been identified by a…”
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Frizzled and Dfrizzled-2 function as redundant receptors for Wingless during Drosophila embryonic development by Bhanot, P, Fish, M, Jemison, J A, Nusse, R, Nathans, J, Cadigan, K M

“…In cell culture assays, Frizzled and Dfrizzled2, two members of the Frizzled family of integral membrane proteins, are able to bind Wingless and transduce the…”
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The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons by Xiang, M, Zhou, L, Macke, JP, Yoshioka, T, Hendry, SH, Eddy, RL, Shows, TB, Nathans, J

“…A search for POU domain sequences expressed in the human retina has led to the identification of three closely related genes: Brn-3a, Brn-3b, and Brn-3c. The…”
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Targeted Deletion of the Mouse POU Domain Gene Brn-3a Causes a Selective Loss of Neurons in the Brainstem and Trigeminal Ganglion, Uncoordinated Limb Movement, and Impaired Suckling by Xiang, Mengqing, Gan, Lin, Zhou, Lijuan, Klein, William H., Nathans, Jeremy

“…The Brn-3 subfamily of POU domain genes are expressed in sensory neurons and in select brainstem nuclei. Earlier work has shown that targeted deletion of the…”
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Molecular biology of visual pigments by NATHANS, J

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Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain by Sung, C H, Davenport, C M, Nathans, J

“…Over 40 mutations in the rhodopsin gene have been identified in patients with autosomal dominant retinitis pigmentosa. Twenty-one of these mutations have been…”
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Insertional mutagenesis as a probe of rhodopsin's topography, stability, and activity by BORJIGIN, J, NATHANS, J

“…This paper reports a study of rhodopsin's structure and function using insertional mutagenesis with a flexible epitope. Sixteen rhodopsin derivatives were…”
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Functional Heterogeneity of Mutant Rhodopsins Responsible for Autosomal Dominant Retinitis Pigmentosa by Sung, Ching-Hwa, Schneider, Barbara G., Agarwal, Neeraj, Papermaster, David S., Nathans, Jeremy

“…Thirteen mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa (ADRP) have been produced by transfection of cloned cDNA into tissue culture…”
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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis by Simovich, Marcia J., Miller, Beverly, Ezzeldin, Hany, Kirkland, Bryan T., McLeod, Genevieve, Fulmer, Chere, Nathans, Jeremy, Jacobson, Samuel G., Pittler, Steven J.

“…Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all…”
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Isolation and Nucleotide Sequence of the Gene Encoding Human Rhodopsin by Nathans, Jeremy, Hogness, David S.

“…We have isolated and completely sequenced the gene encoding human rhodopsin. The coding region of the human rhodopsin gene is interrupted by four introns,…”
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Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells by Zhou, H, Yoshioka, T, Nathans, J

“…A novel POU-domain protein, retina-derived POU-domain factor-1 (RPF-1), has been identified through the isolation of cDNA and genomic DNA clones. In the adult,…”
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The Evolution and Physiology of Human Color Vision: Insights from Molecular Genetic Studies of Visual Pigments by Nathans, Jeremy

“…Color vision is the process by which an organism extracts information regarding the wavelength composition of a visual stimulus. In its simplest…”
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Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa by Sung, Ching-Hwa, Davenport, Carol M., Hennessey, Jill C., Maumenee, Irene H., Jacobson, Samuel G., Heckenlively, John R., Nowakowski, Rodney, Fishman, Gerald, Gouras, Peter, Nathans, Jeremy

“…DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the…”
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The Role of Frizzled3 and Frizzled6 in Neural Tube Closure and in the Planar Polarity of Inner-Ear Sensory Hair Cells by Wang, Yanshu, Guo, Nini, Nathans, Jeremy

“…In the mouse, Frizzled3 (Fz3) and Frizzled6 (Fz6) have been shown previously to control axonal growth and guidance in the CNS and hair patterning in the skin,…”
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Expression of chicken fibroblast growth factor homologous factor (FHF)-1 and of differentially spliced isoforms of FHF-2 during development and involvement of FHF-2 in chicken limb development by Munoz-Sanjuan, I, Simandl, B K, Fallon, J F, Nathans, J

“…Members of the fibroblast growth factor (FGF) family have been identified as signaling molecules in a variety of developmental processes, including important…”
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Signaling by sensory receptors by Julius, David, Nathans, Jeremy

“…Sensory systems detect small molecules, mechanical perturbations, or radiation via the activation of receptor proteins and downstream signaling cascades in…”
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