Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
about
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptideTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe role of primary cilia in the development and disease of the retinaInhibition of PDGF-B induction and cell growth by syndecan-1 involves the ubiquitin and SUMO-1 ligase, ToporsMutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.Retinitis pigmentosa and allied conditions today: a paradigm of translational researchUltra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosaWhole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotypeDiagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Zinc-binding domain-dependent, deaminase-independent actions of apolipoprotein B mRNA-editing enzyme, catalytic polypeptide 2 (Apobec2), mediate its effect on zebrafish retina regeneration.TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesGenotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosaMutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.The ubiquitin-proteasome system in retinal health and disease.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Walking the interactome for prioritization of candidate disease genes.Photoreceptor Cilia and Retinal Ciliopathies.A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.mRNA expression analysis of the SUMO pathway genes in the adult mouse retina.The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
P2860
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P2860
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@ast
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@en
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@nl
type
label
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@ast
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@en
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@nl
prefLabel
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@ast
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@en
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@nl
P2093
P2860
P50
P3181
P356
P1476
Mutations in TOPORS cause auto ...... nal pigment epithelium atrophy
@en
P2093
Andreas Gal
Bernd Wissinger
Brotati Veraitch
Cecilia Maubaret
Christian P Hamel
Christina F Chakarova
Irma Lopez
James Friedman
Mai M Abd El-Aziz
P2860
P304
P3181
P356
10.1086/521953
P407
P50
P577
2007-09-26T00:00:00Z