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Characterization of antibody against the N-terminus of RDS/ peripherin. Paper-1712353.
Molecular screening showed a Gln331stop variation in the peripherin/ RDS gene. Paper-9476125.
No irregularities were found in their rhodopsin or peripherin/ RDS genes. Paper-422721.
A novel RDS/ peripherin gene mutation associated with diverse macular phenotypes. Paper-10906760.
A novel peripherin/ RDS mutation resulting in a retinal dystrophy with phenotypic variation. Paper-13069716.
Serine-27-phenylalanine mutation within the peripherin/ RDS gene in a family with cone dystrophy. Paper-909321.
We studied the phenotype of two families with a novel large deletion in the peripherin/ RDS gene. Paper-516839.
Molecular analysis of the rhodopsin and peripherin/ RDS genes in the patients was also performed. Paper-422721.
A suspected diagnosis of PD may be confirmed by the identification of a mutation in the peripherin/ RDS gene. Paper-9476125.
Mutations in the human peripherin/ RDS gene associated with autosomal dominant retinitis pigmentosa. Paper-8062176.
Role of Peripherin/rds in Vertebrate Photoreceptor Architecture and Inherited Retinal Degenerations. Paper-12310955.
N-RDS may prove useful in studying RDS/ peripherin mutants, particularly those with abnormal C-terminal domains. Paper-1712353.
All affected members were found to carry a 3-base pair deletion affecting codon 169 of the peripherin/ RDS gene. Paper-10044286.
We show here that isolated peripherin binds selectively to mammalian lamin B under in vitro conditions. Paper-23999.
A heterozygous deletion in peripherin/ RDS (Met152del3 atGAA) was present in the patient and the affected mother. Paper-13577325.
Other neuronal intermediate filament proteins ( alpha-internexin, peripherin) also accumulated in these spheroids. Paper-523322.
Biotinylated NMB-1 retains activity and binds selectively to peripherin-positive nociceptive sensory neurons. Paper-13289272.
In contrast, all 7 cases of Ewing sarcoma were negative for peripherin, MAP 1B, alpha-internexin, NeuN, and nestin. Paper-12853065.
Network antibodies identify nuclear lamin B as a physiological attachment site for peripherin intermediate filaments. Paper-23999.
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/ RDS gene. Paper-555364.
RESULTS: An Arg-142-Trp mutation in the peripherin/ RDS gene was found in ten affected family members in seven families. Paper-555364.
A novel Cys-214-Ser mutation in the peripherin/ RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. Paper-106084.
Macular dystrophy associated with the Arg172Trp substitution in peripherin/ RDS: genotype-phenotype correlation. Paper-13764405.
CONCLUSIONS: This particular peripherin/ RDS gene mutation is associated with dominantly inherited pattern dystrophy of the retina. Paper-198191.
A Swedish family with a mutation in the peripherin/ RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. Paper-1712351.
For example, peripherin is expressed in neuroblastomas, GFAP in astrocytomas and neurofilaments in tumors of neuronal origin. Paper-965088.
RESULTS: A proline to arginine mutation in codon 210 of peripherin/ RDS was found in all clinically affected individuals. Paper-165797.
In contrast to alpha-internexin, peripherin was expressed in only 4 medulloblastomas and one atypical teratoid/ rhabdoid tumor. Paper-10044269.
Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/ RDS gene (arginine-46-stop). Paper-151712.
Analysis of the rhodopsin and peripherin/ RDS gene in two families with pattern dystrophy of the retinal pigment epithelium. Paper-745045.
CONCLUSIONS: When caused by a p.Arg142Trp mutation in the peripherin/ RDS gene, CACD causes a central cone dystrophy phenotype. Paper-13704243.
Screening for mutations in the rhodopsin (RHO) and peripherin/ RDS ( RDS) genes was performed using DNA heteroduplex analysis. Paper-1833869.
Two novel missense mutations in the peripherin/ RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa. Paper-1548996.
Immunocytochemistry demonstrated that activated ERK was present in neurons containing peripherin, a marker of nociceptive neurons. Paper-11363921.
We have introduced the EGFP gene into the human PRPH-1 locus to create the Peripherin- EGFP (hPRPH1-G) genomic reporter construct. Paper-13055689.
PURPOSE: To describe the atypical clinical presentations of pattern dystrophy (PD) in two unrelated families with novel peripherin/ RDS mutations. Paper-9476125.
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/ RDS. Paper-1478155.
The nmf193 mutation was linked to chromosome 17 and fine mapped to an interval containing the peripherin/ rds ( Prph2) gene. Paper-13538948.
Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/ RDS gene). Paper-10001749.
Laboratory animals immunized with P1 spontaneously develop idiotypic and anti-idiotypic antibodies recognizing peripherin and lamin B, respectively. Paper-23999.
The RDS- peripherin gene encodes a photoreceptor-specific protein that is localized in the outer segment disc membranes of both rods and cones. Paper-425941.
The authors identified a novel Val200Glu mutation of the peripherin/ RDS gene in a Japanese family with autosomal dominant cone-rod dystrophy ( CRD). Paper-841401.
PURPOSE: To screen for mutations in the rhodopsin, peripherin/ RDS, and ROM1 genes in a family affected with retinitis punctata albescens. Paper-463129.
The elaborate membranous architecture of the OS requires peripherin/rds (P/rds), an integral membrane protein and tetraspanin protein family member. Paper-12310955.
However, the levels of peripherin, NGF isoforms and TrkA in skin, peripheral nerves and DRG, respectively, were not significantly reduced in aged rats. Paper-13075760.
RESULTS: Three of four siblings from the middle generation and four of the younger generation were heterozygous for the peripherin / RDS Arg-172-Trp mutation. Paper-1712351.
A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas. Paper-12853065.
Neurofilament 200 (NF-200) and peripherin labeling indicates that 70% of the FHF1-expressing neurons contribute to A-fibers and 30% to C-fibers. Paper-12739135.
Both normal and inflamed human dental pulp showed positive immunolabelling for NF, S100B and NSE and lack of labelling for PRP and CgA protein. Paper-12281216.
Late-Onset Central Areolar Choroidal Dystrophy Caused by a Heterozygous Frame-Shift Mutation Affecting Codon 307 of the Peripherin/ RDS Gene. Paper-12348064.
Ghrelin-positive neurons averaged 25.6 microm in diameter, but included neurons in all the size ranges except the smallest peripherin-positive neurons. Paper-11316596.
Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/ peripherin gene. Paper-9804904.
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS- peripherin gene in autosomal dominant macular dystrophies in Spanish families. Paper-8682211.
CONCLUSION: In members of this family, both autosomal dominant RP and pattern dystrophy were associated with a Pro216Ser mutation in the peripherin/ RDS gene. Paper-236588.
Mutations in the genes encoding for rhodopsin, RDS- peripherin, or the beta subunit of the cGMP phosphodiesterase enzyme can be responsible for the phenotype. Paper-8168228.
A characteristic of mutations in the peripherin/ RDS gene is the broad phenotypic spectrum in patients, and the variability in clinical expression, even within families. Paper-1690746.
We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/ RDS gene. Paper-7628980.
Our results confirm that peripherin and alpha-internexin are neuroblastoma markers useful for the differential diagnostic work-up of small round cell tumors of childhood. Paper-12853065.
These data provide essentially in vivo evidence that lamin B represents a constitutive nuclear "receptor" site for the tail domains of peripherin intermediate filaments. Paper-23999.
To assess the frequency of peripherin/ RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients. Paper-1216323.
The main outcome measure were the presence of a RDS/ Peripherin gene mutation in a patient with the disease and its absence in unaffected family members and controls. Paper-9868236.
CONCLUSIONS: The authors identified a novel peripherin/ RDS gene mutation associated with autosomal dominant retinal degeneration in patients from three different families. Paper-165797.
Using this approach we have identified a novel peripherin transcript retaining introns 3 and 4 that results in a 28 kDa splice isoform, designated Per 28. Paper-12750919.
Ninety-eight patients carried a p.Arg142Trp mutation in peripherin/ RDS, whereas 5 affected members of a CACD family carried a p.Arg172Gln peripherin/ RDS mutation. Paper-13704243.
PURPOSE: To report the phenotype and genotype of a splice site mutation at intron 2 of the peripherin/ RDS gene in four half-siblings with pattern dystrophy of the retina. Paper-9090653.
To report the identification of two novel RDS mutations in the peripherin/ RDS gene of two unrelated French patients affected by autosomal dominant retinitis pigmentosa (ADRP). Paper-1548996.
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/ RDS gene. Paper-7628980.
When cultured in inductive medium that allowed neural differentiation, the cells showed markers for beta-tubulin III, neurofilament M, peripherin, microtubule-associated protein 2 and protein zero. Paper-13028166.
Among dorsal root ganglion neurons, both peripherin-positive (C-type) and peripherin-negative (A-type) cells show intense SK3 immunoreactivity. Paper-11084151.
The absence of CgA immunolabelling implies the presumptive absence of neuroendocrine antigens, while further research is required in order to clarify the involvement of PRP in dental pulp. Paper-12281216.
METHODS: All family members underwent an ophthalmic examination, and their genomic DNA was screened for mutations in the human retinal degeneration slow ( peripherin/ RDS) and rhodopsin genes. Paper-10044286.
For this purpose, we examined patients with retinal dystrophies such as Stargardt disease, Best vitelliform macular dystrophy, and retinal dystrophies associated with mutations in the peripherin/ RDS gene. Paper-12767721.
We screened the rhodopsin and the peripherin/ RDS gene in the members of two families who presented the clinical features of pattern dystrophy of the retinal pigment epithelium transmitted as an autosomal dominant trait. Paper-745045.
RESULTS: Eight affected family members and no unaffected family members demonstrated a single guanine base deletion at nucleotide 112 that led to premature termination at amino acid 38 of RDS/ Peripherin polypeptide. Paper-9868236.
Immunohistochemical study of neuroblastomas, Ewing sarcomas, rhabdomyosarcomas, and Wilms tumors demonstrate specific expression of peripherin and alpha-internexin in 20/22 and 6/22 cases of neuroblastomas, respectively. Paper-12853065.
CONCLUSIONS: This study reveals genetic heterogeneity for BSMD by the identification of a BSMD family, which is not associated with a mutation in the peripherin/ RDS gene nor with any other known non-syndromic retinal disease gene. Paper-9667765.
Preliminary studies showed weak co-localization of calcitonin gene-related peptide ( CGRP) immunoreactivity (IR) with peripherin (PER) or neurofilament protein (NF) in rat molar nerve fibers, while the latter two co-localized extensively. Paper-12187771.
Co-cultures of odontoblasts with trigeminal neurons indicate a clustering of alpha2 and beta2 sodium channel subunits and, at the sites of cell-cell contact, a co-localization of odontoblasts beta2 subunits with peripherin. Paper-12242668.
The immunohistochemical detection of neurofilament protein (NF), peripherin ( PRP), S100B protein ( S100B), neuron-specific enolase ( NSE) and chromogranin-A ( CgA) has been studied in nerve fibres and bundles of human dental pulp. Paper-12281216.
Comparative evaluation of neural tissue antigens - neurofilament protein (NF), peripherin ( PRP), S100B protein ( S100B), neuron-specific enolase ( NSE) and chromogranin-A ( CgA) - in both normal and inflamed human mature dental pulp. Paper-12281216.
MATERIALS AND METHODS: 28 medulloblastomas and 5 atypical teratoid/ rhabdoid tumors were examined for the immunohistochemical expression of alpha-internexin, as well as the neuronal markers peripherin and synaptophysin, and glial fibrillary acidic protein. Paper-10044269.
The two siblings underwent genetic testing and were found to be carriers of a heterozygous frame-shift mutation 920delT affecting codon 307 of the peripherin/ RDS gene and resulting in a truncated, likely functionless, protein with an altered C-terminus (Leu307fsX83). Paper-12348064.
Markers of embryonic auditory and other sensory neurons, GATA3, Brn3a, and islet1, could be detected after 3 days of differentiation of the cells, and markers of the sensory phenotype, peripherin, calretinin, TrkC, and TrkB were expressed after 10 days. Paper-12763265.
METHODS: Serial sections of human intervertebral discs were immunostained for the neuronal markers (neurofilament 200, peripherin, protein gene product 9.5), for the Schwann cell marker ( glial fibrillary acidic protein), and for the endothelial cell marker ( CD34). Paper-8930092.
Mutations in the gene for the beta subunit of cyclic GMP phosphodiesterase cause retinal dystrophies in man, mice and dog, and mutations in the gene for the structural protein peripherin/ RDS result in a retinal dystrophy in the mouse and a spectrum of differing retinal dystrophies in man. Paper-1595427.
These were small-sized (mean soma area, 395.96 +/- 5.6 mum(2)) and predominantly colabeled with peripherin and isolectin B4 markers of unmyelinated C-fiber neurons; 68% colabeled with antibodies to TRPV1 (marker of nociceptive DRG neurons), and <2% colabeled with NF200 (marker of large myelinated neurons). Paper-13684564.
Serotonin was present in trigeminal neurons containing CGRP, a potent vasoactive neuropeptide, peripherin, an intermediate filament present in neurons with unmyelinated axons, neurofilament H, which is present in neurons with myelinated axons, and in neurons binding IB4, a marker of nonpeptidergic nociceptors. Paper-12203548.
These synonyms are used for gene PRPH (peripherin): PRPH1, Peripherin, Neurofilament 4, NEF4.
These accession numbers are used for gene PRPH: Q8N577 (UNIPROT__AC), CR620795 (NCBI_GENBANK__AC), CR605475 (NCBI_GENBANK__AC), B3KWQ6 (UNIPROT__AC).
PRPH is a homologue of PRPH (peripherin) from Bos taurus.
PRPH is a homologue of PRPH (peripherin) from Pan troglodytes.
PRPH is a homologue of PRPH (peripherin) from Canis lupus familiaris.
PRPH is a homologue of Prph (peripherin) from Mus musculus.
PRPH is a homologue of Prph (peripherin) from Rattus norvegicus.
PRPH is a homologue of prph (peripherin) from Danio rerio.
Important links !
iHOP - Information Hyperlinked over Proteins .
Concept & Implementation by Robert Hoffmann.