Click on one of these terms to refine your search
1 to 10 of 54 literature results
Disorders of vascular structure and function play a central role in a wide variety of CNS diseases. Mutations in the Frizzled-4 (Fz4) receptor, Lrp5 c…
Authors: Xin Ye, Yanshu Wang, Hugh Cahill, Minzhong Yu, Tudor C Badea, Philip M Smallwood, Neal S Peachey, Jeremy Nathans
Source: Cell. 2009 Oct 16
View Full TextMutations in BEST1, encoding bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular degeneration charac…
Authors: Youwen Zhang, J Brett Stanton, Jiang Wu, Kuai Yu, H Criss Hartzell, Neal S Peachey, Lihua Y Marmorstein, Alan D Marmorstein
Source: Human molecular genetics. 2010 Mar 15
View Full TextThere are four members of the bestrophin family of proteins in the human genome, of which two are known to be expressed in the eye. The gene BEST1 (fo…
Authors: Alan D Marmorstein, Harold E Cross, Neal S Peachey
Source: Progress in retinal and eye research. 2009 May
View Full TextMalattia leventinese (ML) is a dominantly inherited macular degenerative disease characterized by the presence of sub-retinal pigment epithelium (RPE)…
Authors: Lihua Y Marmorstein, Precious J McLaughlin, Neal S Peachey, Takako Sasaki, Alan D Marmorstein
Source: Human molecular genetics. 2007 Oct 15
View Full TextPURPOSE: Mutations in the photoreceptor-specific tubby-like protein 1 (TULP1) underlie a form of autosomal recessive retinitis pigmentosa. To investig…
Authors: Gregory H Grossman, Gayle J T Pauer, Umadevi Narendra, Neal S Peachey, Stephanie A Hagstrom
Source: Investigative ophthalmology & visual science. 2009 Jul
View Full TextRod photoreceptors are highly polarized cells whose exquisite sensitivity to light depends on precise compartmentalization of ion channels/transporter…
Authors: Krishnakumar Kizhatil, Nina K Sandhu, Neal S Peachey, Vann Bennett
Source: Experimental eye research. 2009 Jan
View Full TextIn response to light, the mouse retinal pigment epithelium (RPE) generates a series of slow changes in potential that are referred to as the c-wave, f…
Authors: Jiang Wu, Alan D Marmorstein, Jörg Striessnig, Neal S Peachey
Source: Journal of neurophysiology. 2007 May
View Full TextPURPOSE: Age-related macular degeneration (AMD) is the leading cause of blindness among older adults, in which oxidative damage may play a pivotal rol…
Authors: Gayle J T Pauer, Gwen M Sturgill, Neal S Peachey, Stephanie A Hagstrom, Clinical Genomic And Proteomic AMD Study Group
Source: American journal of ophthalmology. 2010 Mar
View Full TextPURPOSE: Tubby-like proteins (TULPs) are a family of four proteins, two of which have been linked to neurosensory disease phenotypes. TULP1 is a photo…
Authors: Quansheng Xi, Gayle J T Pauer, Sherry L Ball, Mary Rayborn, Joe G Hollyfield, Neal S Peachey, John W Crabb, Stephanie A Hagstrom
Source: Investigative ophthalmology & visual science. 2007 Jun
View Full TextThe Smith-Lemli-Opitz syndrome (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with …
Authors: Steven J Fliesler, Dana K Vaughan, Erin C Jenewein, Michael J Richards, Barbara A Nagel, Neal S Peachey
Source: Pediatric research. 2007 Mar
View Free Full Text