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". Molecular Pathology. 1998, 51(5). 287-291.

24 Jan 2021 Thus far, over 90 human peripherin/RDS gene mutations have been identified. These mutations have been associated with a variety of retinal 

Peripherin is a neuronal intermediate filament protein that is expressed chiefly in motor neurons and other nerve cells that project into the peripheral nervous system. Transgenic mice that over-express peripherin develop motor neuron degeneration, suggesting that mutations in peripherin could contribute to the development of motor neuron disease. This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Peripherin is predominantly found in the PNS (hence its name), but some CNS neurons also express peripherin. As described above, peripherin was identified as a gene that was increased in PC12 cells upon stimulation by nerve growth factor.

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av MG till startsidan Sök — Peripherin, peripherin, 12q12-q13 A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in  Antigensymbol, PRPH. Antikroppsnamn, peripherin. Antikroppstyp, Primary. Klonalitet, Polyclonal. Konjugation, Unconjugated.

Peripherin shows similarity in sequence to proteins of the IF family. Sequence analysis of clones that contained the entire coding sequence for mouse peripherin/rds revealed the exon-intron organization of the gene.

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)

[Google Scholar] Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature. precise dose of peripherin-2 to combat a severe haploinsufficiency phenotype have delayed the development of clinically viable genetic treatments.

focused on the reconstruc-tion of bHLH gene cascades, which are thought to model: overexpression of neuronal intermediate filament protein peripherin in 

Nature. precise dose of peripherin-2 to combat a severe haploinsufficiency phenotype have delayed the development of clinically viable genetic treatments. Here we discuss the prog-ress and prospects for PRPH2-associated gene therapy. The peripherin-2 (PRPH2) gene, previously known as retinal degeneration slow (RDS), For independent verification of Peripherin gene silencing results, individual duplex components or plasmids are also available upon request Suitable control antibody: Peripherin Antibody (A-3) : sc-377093 is recommended as control antibody for monitoring of Peripherin expression knockdown by Western blotting or immunofluorescence PURPOSE To describe a novel mutation in the RDS/Peripherin gene that results in a moderately severe form of adult-onset foveomacular dystrophy.

These studies suggested that peripherin may play a role in axon outgrowth and elongation. Nevertheless, the regulatory factors involved in the migration of BMMSCs remain largely unknown. In this study, we studied the role of the peripherin (PRPH) gene in regulating the ability of Wuzhishan mini pig (WZSP) BMMSCs to migrate in vitro. Four different shRNA vectors directed against PRPH were designed and transfected into BMMSCs. Peripherin is predominantly found in the PNS (hence its name), but some CNS neurons also express peripherin. As described above, peripherin was identified as a gene that was increased in PC12 cells upon stimulation by nerve growth factor. Peripherin has also been shown to be up-regulated following axonal injury.
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Peripherin was discovered as being the major intermediate filament in neuroblastoma cell lines and in rat pheochromocytoma cells. It is classified by gene structure and coding sequence as a type III IF protein because of its homology with vimentin, GFAP and desmin. Peripherin Antibodies Peripherin is a 57kD type III intermediate filament that is a specific marker for peripheral neurons, including enteric ganglion cells.

Peripherin shows similarity in sequence to proteins of the IF family. Sequence analysis of clones that contained the entire coding sequence for mouse peripherin/rds revealed the exon-intron organization of the gene. The gene is composed of three exons (581, 247, and 213bp) and two introns. The first and second introns are 8.6 kb and 3.7 kb in size, respectively.
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A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. This page in English. Författare:.

Peripherin shows similarity in … XIF3, a Xenopus peripherin gene, requires an inductive signal for enhanced expression in anterior neural tissue C. R. SHARPE, A. PLUCK and J. B. GURDON Cancer Research Campaign Molecular Embryology Research Group, Department of Zoology, University of Cambridge, UK Summary A full-length cDNA clone for the Xenopus intermediate Peripherin

This subsection of the Names and taxonomy section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. 1998-07-15 2007-05-15 2004-10-29 Sequence analysis of clones that contained the entire coding sequence for mouse peripherin/rds revealed the exon-intron organization of the gene. The gene is composed of three exons (581, 247, and 213bp) and two introns. The first and second introns are 8.6 kb and 3.7 kb in size, respectively. 2020-08-18 The Peripherin Gene Regulates the Migration of Bone Marrow Mesenchymal Stem Cells in Wuzhishan Mini Pigs A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with Bull's eye maculopathy detected by … 2006-05-04 In a large Irish pedigree with autosomal dominant retinitis pigmentosa-7 (RP7; 608133), Farrar et al. (1991) identified a 3-bp deletion in the RDS gene (179605.0001), resulting in loss of one of a pair of highly conserved cysteine residues in the predicted third transmembrane domain of peripherin (codon 118 or 119).The deletion segregated with the disease phenotype in the family.