1992-03-01

PRPH2 (Peripherin/RDS) Mutations Associated with Different Macular Dystrophies in a Spanish Population: A New Mutation. Show all authors. Rosa M. Coco.

Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa. 1994; Am.J.Hum.Genet. 2003-10-01 2020-08-18 The peripherin that is mutant in rds of the mouse is a different protein from the peripherin (Prph) encoded on mouse chromosome 15 (Pendleton et al., 1991); see 170710. Connell et al.

Peripherin rds

1993; Nat.Genet. 3: 208-212. Link Goto Top Peripherin/RDS Genes in Mexican Families with Autosomal Dominant Retinitis. Pigmentosa.

8 Both rim proteins are also capable of forming homotetramers, and peripherin/rds has been found to exist as higher order oligomeric complexes in the outer segment. 8, 9 Although rom-1 and peripherin/rds are structurally similar 2020-09-09 · 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.

A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. Ophthalmic Genet. 1998 Sep

Ophthalmic Genet. 1998 Sep visats leda till RP, i första hand en digenisk form vid samtidig mutation i peripherin-RDS. (Kajiwara et al, 1994). Maw et al.

The RDS gene codes for the protein peripherin‐RDS, which is an integral membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is thought to function as a structural protein involved in the maintenance of the flattened form of the disc lamellae.

While RDS/Peripherin is present in rods and cones, ROM1 is restricted to rods only . Increased numbers of mutations in the peripherin/RDS (retinal degeneration slow) gene have been identified in families with autosomal dominant retinitis pigmentosa 1 and several kinds of macular dystrophy.

When coexpressed in COS cells, homo- and heterotetrameric complexes can be immunoprecipitated with antibodies to either subunit (Goldberg et al., 1995). 1992-03-01 · View protein in InterPro IPR000830, Peripherin/rom-1 IPR018498, Peripherin/rom-1_CS IPR042026, Peripherin_LEL IPR018499, RDS_ROM1, 1 hit Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa Jacobson, S G; Cideciyan, A V; Bascom, R A; Ponjavic, Vesna LU; Abrahamson, Magnus LU; Ekström, Ulf LU; Andréasson, Sten LU; Ehinger, Berndt LU; Sheffield, V C and McInnes, R R, et al. () In Digital Journal of Ophthalmology 5 (6). Peripherin/RDS.
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64,65 These mice carry a mutation in chromosome 17 encoding the peripherin/rds gene. In contrast to wild-type mice, development of photoreceptor outer segments is impaired in homozygous rds mice. 1994-01-01 · The dimer of peripherin/rds has also been detected in mouse retinal extracts (Travis et al., 1991b) and in extracts of COS-1 monkey kidney cells which had been transfected with an expression vector containing the peripherin/rds cDNA (Connell et al., 1991b), The disulfide-linked dimer appears to be composed of two peripherin/rds subunits and not distinct subunits of peripherin/rds and the A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.

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.
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1998-10-01

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.

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1994-01-01 · The dimer of peripherin/rds has also been detected in mouse retinal extracts (Travis et al., 1991b) and in extracts of COS-1 monkey kidney cells which had been transfected with an expression vector containing the peripherin/rds cDNA (Connell et al., 1991b), The disulfide-linked dimer appears to be composed of two peripherin/rds subunits and not distinct subunits of peripherin/rds and the

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.