Photoreceptors at a glance

RS Molday, OL Moritz - Journal of cell science, 2015 - journals.biologists.com
Retinal photoreceptor cells contain a specialized outer segment (OS) compartment that
functions in the capture of light and its conversion into electrical signals in a process known …

Complexes of tetraspanins with integrins: more than meets the eye

F Berditchevski - Journal of cell science, 2001 - journals.biologists.com
The transmembrane proteins of the tetraspanin superfamily are implicated in a diverse
range of biological phenomena, including cell motility, metastasis, cell proliferation and …

Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice.

SW John, RS Smith, OV Savinova… - … & visual science, 1998 - iovs.arvojournals.org
PURPOSE: To characterize ocular abnormalities associated with iris atrophy in DBA/2J mice
and to determine whether mice of this strain develop elevated intraocular pressure (IOP) and …

[KNIHA][B] Retina

SJ Ryan - 2013 - books.google.com
Unequalled in scope, depth, and clinical precision, Retina, 5th Edition keeps you at the
forefront of today's new technologies, surgical approaches, and diagnostic and therapeutic …

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa.

C Portera-Cailliau, CH Sung, J Nathans… - Proceedings of the …, 1994 - pnas.org
Retinitis pigmentosa (RP) is a group of inherited human diseases in which photoreceptor
degeneration leads to visual loss and eventually to blindness. Although mutations in the …

Beyond Mendel: an evolving view of human genetic disease transmission

JL Badano, N Katsanis - Nature Reviews Genetics, 2002 - nature.com
Methodological and conceptual advances in human genetics have led to the identification of
an impressive number of human disease genes. This wealth of information has also …

Apoptosis: Final common pathway of photoreceptor death in rd, rds, and mutant mice

GQ Chang, Y Hao, F Wong - Neuron, 1993 - cell.com
Mutations in the retinal degeneration, retinal degeneration slotilperipherin) and rhodopsin
genes cause photoreceptor degeneration in humans and mice. Although the phenotypes …

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 …

B Chang, H Khanna, N Hawes, D Jimeno… - Human molecular …, 2006 - academic.oup.com
Centrosome-and cilia-associated proteins play crucial roles in establishing polarity and
regulating intracellular transport in post-mitotic cells. Using genetic map** and positional …

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

C Rivolta, D Sharon, MM DeAngelis… - Human molecular …, 2002 - academic.oup.com
Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically.
Here we summarize the retinal cell types involved in these diseases, the large number of …

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Z Yang, Y Chen, C Lillo, J Chien, Z Yu… - The Journal of clinical …, 2008 - jci.org
Familial macular degeneration is a clinically and genetically heterogeneous group of
disorders characterized by progressive central vision loss. Here we show that an R373C …