Keen TJ, Inglehearn CF (1996) Mutations and polymorphisms in the human peripherin/RDS gene and their involvement in inherited retinal degeneration.
Peripherin-2. Gene Peripherin-2. Alternative name(s):. Retinal degeneration slow protein Synonyms:PRPH, RDS, TSPAN22.
This subsection of the Sequence archive. Help. 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.
KLHL7. IMPDH1. BBS2. BBS7. Thus far, over 90 human peripherin/RDS gene mutations have been identified. Peripherin/rds is an integral membrane glycoprotein found in the rim regions of vertebrate photoreceptor cell discs. BBS2. The purpose of this investigation was to determine the prevalence of mutations in these two genes in a cohort of cases with macular dystrophies presenting with vitelliform lesions in adulthood. 1997-11-01 · Haploinsufficiency because of a null mutation in the gene encoding peripherin/rds has been thought to be the primary defect associated with the photoreceptor degeneration seen in the retinal degeneration slow (rds) mouse. Abstract. Purpose: To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1 genes. [Peripherin/RDS gene mutation in a patient with choroidal neovascularization]. [Article in Japanese] Kawagoe N(1), Takahashi M, Mandai M, Akimoto M, Suzuki T, Murakami T, Hirami Y, Ikeda H, Yoshimura N. Author information: (1)Department of Ophthalmology and Visual Sciences, Graduate School of Medicine, Kyoto University, Japan. Peripherin/rds is a tetraspanning membrane glycoprotein that is essential for the morphogenesis and stabilization of outer segments of vertebrate rod and cone photoreceptor cells. PRPF8. PRPF31. Cyclic GMP‐Gated Channel and Peripherin/rds‐rom‐1 Complex of Rod Cells Robert S. Molday Department of Biochemistry and Molecular Biology, University of British Columbia, Faculty of Medicine, 2146 Health Science Mall, Vancouver BC, Canada V6T 1Z3
CONCLUSIONS: The peripherin/RDS gene mutation F211L is associated with a clinical phenotype and includes early loss of rod function and successive reduction of cone function with increasing age, but impressively well-preserved visual acuity and visual fields in young and middle-aged patients and moderately reduced vision in the old patient. Abstract : Rds/peripherin is an integral membrane glycoprotein that is present in the rims of photoreceptor outer segment disks. In mammals, it is thought to stabilize the disk rim through heteroph
Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene). Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
The 3 coding exons of the peripherin/RDS gene were subsequently screened for mutations in affected and unaffected family members. A nonconservative missense substitution, Arg172Trp (R172W), segregated uniquely in all affected subjects. The majority of subjects carrying the R172W peripherin/RDS mutation complained of reduced central vision starting in the second or third decade, with subsequent gradual deterioration of visual acuity and color vision.
While RDS/Peripherin is present in rods and cones, ROM1 is restricted to rods only .The proteins form heterodimers in rods as well as homodimers in cones. 4 dimers may form octamers .The dimers are located at the disc rim and may play a role in anchoring the disc to the
AIMS: To develop a sensitive mutation screening procedure suitable for routine analysis of the peripherin/RDS gene, and to estimate the nature and prevalence of peripherin/RDS gene mutations in Swedish patients with autosomal dominant retinitis pigmentosa. METHODS: To make the method as sensitive as possible, as many as eight segments, covering the three exons and the flanking intron …
1998-10-01
Peripherin/RDS gene.
Peripherin/RDS. Other versions of this article Kathleen Boesze‐Battaglia
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. 1995; Ophthalm.Genet. 16: 39-44. Goto Top Rodriguez,J.A., Gannon,A.M., Birch,D.G., Heckenlively,J.R., and Daiger,S.P. Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa. 1994; Am.J.Hum.Genet.
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Conclusions: Mutations in the peripherin/RDS gene are the major cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. This autosomal dominant disorder should be distinguished from autosomal recessive STGD1, in view of the different inheritance pattern and the overall better visual prognosis.
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tema sagor i forskolanthe rds defect is more deleterious to rods than to cones, a difference that is likely to reflect a greater role of peripherin/rds in maintaining the structure of the rod outer segment. The data also provide an empirical basis with which to compare rds/1 mice to patients heterozygous for one or another dominantly inherited peripherin/rds mutation.