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A Swedish family with a mutation in the peripherin/RDS gene

Papers; People; X-Shaped Macular Dystrophy with Flavimaculatus Flecks. Two families showed a retinal pigment epithelial dystrophy characterized by an X-shaped yellowish macular lesion … Abstract. Peripherin/rds, a transmembrane glycoprotein, has been localized to the rim region of mature disks and the basal region adjacent to the cilia of rod and cone outer segments where disk morphogenesis occurs (Arikawaet al.1992).The importance of peripherin/rds to photoreceptor outer segment structure is inferred by its involvement in theretinal degeneration slow (rds) mutant mouse … The Effect of Peripherin/rds Haploinsufﬁciency on Rod and Cone Photoreceptors Tong Cheng,1 Neal S. Peachey,3,4 Shihong Li,2 Yoshinobu Goto,3,4 Yun Cao,2 and Muna I. Naash1,2 Departments of 1Genetics and 2Ophthalmology and Visual Sciences, University of Illinois at Chicago, College of Medicine, Chicago, Illinois 60612, 3Hines Veterans Affairs Hospital, Hines, Illinois 60141, and 4Department 2004-07-14 1991-02-01 at theperipherin/RDS and ROMi loci are underneath respective symbolswith peripherin/RDSalleles above ROMialleles (24). In all three families, the allele designation "rds" denotes the Leu185Pro allele; the designation "+"denotesawild-type allele at the peripherin/RDSor ROM1 loci.

Peripherin/rdsand rom-1 have structural roles in morphogenesis and stabilization of the outer segment, but little is known about their transport and sorting to the rod outer segment. Peripherin/rdsand rom-1 trafficking were studied in several knockout and transgenic animal models. Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion The Pro210Arg mutation has been reported previously in patients with pattern dystrophy confirming the observation that pattern dystrophy can present with an AVMD phenotype. Peripherin/rds is an integral membrane glycoprotein found in the rim regions of vertebrate photoreceptor cell discs. Natural mutations of the encoding gene result in degenerative retinal disorders, such as retinitis pigmentosa. Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone outer segments. The relevance of this protein to photoreceptor outer segment morphology was first demonstrated in retinal degeneration slow (rds) mice.

Natural mutations of the encoding gene result in degenerative retinal disorders, such as retinitis pigmentosa. Ekström, Ulf et al. "Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system".

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2001-07-01 · Introduction. Several mutations and polymorphisms of the peripherin/ RDS (retinal degeneration slow) gene have been found in patients with retinal dystrophies.

Enastående ögonsjukdom Vitelliform makulär dystrofi thermot

Previous studies indicate that the protein, peripherin or peripherin/rds, is localized along the rim of mature disks of rod outer segments.

We have compared the oligomeric structure of these proteins from nonreduced and dithiothreitol reduced Background: Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene. We studied the phenotype of two families with a novel large deletion in the peripherin/RDS gene.Methods: Clinical study, fluorescein angiography, color Fundus flavimaculatus like, Peripherin/RDS gene, Pattern dystrophy simulating Stargardt disease, Dystrophie maculaire en « ailes de papillon » avec taches jaunâtres périphériques X-Shaped Macular Dystrophy with Flavimaculatus Flecks - 1989 - 20 YEARS LATER (Fundus flavimaculatus avec dystrophie maculaire en X) Identification of peripherin as the protein encoded by the normal rds gene and its localization to membranes of rod outer segments will serve as a basis for studies directed toward defining the role of this protein in the morphogenesis and maintenance of the outer segment and toward understanding the mechanism by which the rds mutation causes retinal degeneration. Peripherin/rds-peripherin/rds and peripherin/rds-rom-1 interactions similar to those present in ROS can be replicated in heterologous expression systems.
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Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. The frequency of mutations found in the Swedish patient group indicates that defects in the peripherin/RDS gene might be a more common cause of autosomal dominant retinitis pigmentosa than was thought previously.}, author = {Ekström, Ulf and Ponjavic, Vesna and Andréasson, Sten and Ehinger, Berndt and Nilsson-Ehle, Peter and Abrahamson, Magnus}, issn = {1366-8714}, language = {eng}, number 2008-03-01 · Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone outer segments. The relevance of this protein to photoreceptor outer segment morphology was first demonstrated in retinal degeneration slow ( rds) mice. Thus far, over 90 human peripherin/RDS gene mutations have been identified. 2020-08-18 · The PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2.

The RDS mouse (rds or rd2) is one of the oldest and well-established animal models of retinal degeneration.
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Ophthalmology Umeå - Umeå universitet

The elaborate membranous architecture of the OS requires peripherin/rds (P/rds), an integral membrane protein and tetraspanin protein family member. Peripherin/rds plays an important role in the morphogenesis and maintenance of the disk rim structure.This role is supported by interactions with other proteins. Peripherin/rds is an integral membrane glycoprotein found in the rim regions of vertebrate photoreceptor cell discs. Natural mutations of the encoding gene result in degenerative retinal disorders, such as retinitis pigmentosa. Ekström, Ulf et al.

Phenotypes and genotypes in families - DISSERTATIONS.SE

Peripherin/rds and Rom1 trafficking was maintained in rhodopsin-knockout mice, suggesting that rim proteins and rhodopsin have separate transport pathways. The presence of truncated peripherin/rds-GFP in the outer segment supported previous evidence that peripherin/rds mice form homotetramers for outer segment targeting. Peripherin/Rds is a tetraspanning membrane protein that has been implicated in photoreceptor outer segment morphogenesis and inherited retinal degenerative diseases. Together with the structurally related protein, Rom-1, it forms a complex along the rims of rod and cone disc membranes. We have compared the oligomeric structure of these proteins from nonreduced and dithiothreitol reduced Background: Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene. We studied the phenotype of two families with a novel large deletion in the peripherin/RDS gene.Methods: Clinical study, fluorescein angiography, color Fundus flavimaculatus like, Peripherin/RDS gene, Pattern dystrophy simulating Stargardt disease, Dystrophie maculaire en « ailes de papillon » avec taches jaunâtres périphériques X-Shaped Macular Dystrophy with Flavimaculatus Flecks - 1989 - 20 YEARS LATER (Fundus flavimaculatus avec dystrophie maculaire en X) Identification of peripherin as the protein encoded by the normal rds gene and its localization to membranes of rod outer segments will serve as a basis for studies directed toward defining the role of this protein in the morphogenesis and maintenance of the outer segment and toward understanding the mechanism by which the rds mutation causes retinal degeneration.