Josefin Nilsson Göteborgs universitet

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7,38 These lesions are mildly elevated and are typically one-third to one-half disc diameter in size but may occasionally be large and may thus be confused with Best vitelliform macular A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354, 478–480 (1991). CAS Article Google Scholar 11. Orita, M. et al. Detection 1998-10-01 · A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

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1998, 19(3). 149-156. 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. 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) Compare & Order Peripherin plasmids, CDNA clones, ORF clones and more genomics products. Wide variety of Top suppliers High-quality customer support. Summary— The gene encoding mouse peripherin, a neuronal intermediate filament protein, has been cloned.

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UniParc. Sequence archive.

Retinal Dystrophies - Klinisk medicin & internmedicin - inbunden

Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. 10 Jun 2020 related to gene product dosage effect.

The neuronal intermediate filament protein peripherin is a component of ubiquitinated inclusions and of axonal spheroids in amyotrophic lateral sclerosis (ALS). Overexpression of peripherin causes motor neuron degeneration in transgenic mice and variations within the peripherin gene have been identified in ALS cases. We have shown previously the abnormal expression of a neurotoxic peripherin 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 Ekström, Ulf et al.
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14:07.0 That's pancreatic  Periphagen is a biopharmaceutical company focused on peripheral nerve gene therapy for difficult-to-treat disorders such as neuropathy and chronic pain. Cystic Fibrosis or CF is an inherited genetic disease that mainly affects the lungs and digestive systems.

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.
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Summary— The gene encoding mouse peripherin, a neuronal intermediate filament protein, has been cloned. Its sequence, through 1021 nucleotides composing the 5′‐flanking region, nine exons, eight introns and 547 nucleotides of the 3′‐flanking region, as well as its transcription initiation site have been determined. Besides the peripherin/RDS gene, AFVD has been linked to mutations in VMD2 gene; 37 it presents classically as bilateral, symmetrical, grayish-yellow, round, or oval-shaped lesions within the macular area.

Sida 6 – ImmunoStar

Sequence archive. Help. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. Niamh McNally, Paul F. Kenna, Derrick Rancourt, Tanweer Ahmed, Alan Stitt, William H. Colledge, David G. Lloyd, Arpad Palfi, Brian O'Neill, Marian M. Humphries, Peter Humphries, G. Jane Farrar, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene, Human Molecular Genetics, Volume 11, Issue 9, 1 May 2002, Pages 1005 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. 2 In this study, we identified a novel heterozygous transversion mutation in codon 195 of the peripherin/RDS gene that results in an amino acid substitution of leucine for arginine Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 1.

Fraser. passage=We have isolated the gene encoding the Schwann cell glycoprotein P0  SOD1 gene mutations in ALS patients in British Columbia, Canada: clinical features, neurophysiology and ethical issues in management.