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| Hauptseite > Publikationsdatenbank > Retinitis Pigmentosa Asssociated with Rhodopsin Mutations: Correlation between Phenotypic Variability and Molecular Effects. > print |
| Hauptseite > Publikationsdatenbank > Retinitis Pigmentosa Asssociated with Rhodopsin Mutations: Correlation between Phenotypic Variability and Molecular Effects. > print |
| 001 | 54920 | ||
| 005 | 20200402210255.0 | ||
| 024 | 7 | _ | |2 pmid |a pmid:17014888 |
| 024 | 7 | _ | |2 DOI |a 10.1016/j.visres.2006.08.018 |
| 024 | 7 | _ | |2 WOS |a WOS:000242674400015 |
| 037 | _ | _ | |a PreJuSER-54920 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 084 | _ | _ | |2 WoS |a Neurosciences |
| 084 | _ | _ | |2 WoS |a Ophthalmology |
| 100 | 1 | _ | |a Iannaccone, A. |b 0 |0 P:(DE-HGF)0 |
| 245 | _ | _ | |a Retinitis Pigmentosa Asssociated with Rhodopsin Mutations: Correlation between Phenotypic Variability and Molecular Effects. |
| 260 | _ | _ | |a Amsterdam [u.a.] |b Elsevier Science |c 2006 |
| 300 | _ | _ | |a 4556 - 4567 |
| 336 | 7 | _ | |a Journal Article |0 PUB:(DE-HGF)16 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a article |2 DRIVER |
| 440 | _ | 0 | |a Vision Research |x 0042-6989 |0 5938 |y 27 |v 46 |
| 500 | _ | _ | |a Record converted from VDB: 12.11.2012 |
| 520 | _ | _ | |a Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R mutations (second intradiscal loop) exhibit a mild phenotype with regional variability (class B1) and diffuse disease of moderate severity (class B2), respectively. Computational and in vitro studies of these mutants provide molecular insights into this phenotypic variability. |
| 536 | _ | _ | |a Funktion und Dysfunktion des Nervensystems |c P33 |2 G:(DE-HGF) |0 G:(DE-Juel1)FUEK409 |x 0 |
| 588 | _ | _ | |a Dataset connected to Web of Science, Pubmed |
| 650 | _ | 2 | |2 MeSH |a Adolescent |
| 650 | _ | 2 | |2 MeSH |a Adult |
| 650 | _ | 2 | |2 MeSH |a Age Factors |
| 650 | _ | 2 | |2 MeSH |a Amino Acid Substitution |
| 650 | _ | 2 | |2 MeSH |a Child |
| 650 | _ | 2 | |2 MeSH |a Child, Preschool |
| 650 | _ | 2 | |2 MeSH |a Computational Biology |
| 650 | _ | 2 | |2 MeSH |a DNA Mutational Analysis |
| 650 | _ | 2 | |2 MeSH |a Disease Progression |
| 650 | _ | 2 | |2 MeSH |a Electroretinography |
| 650 | _ | 2 | |2 MeSH |a Female |
| 650 | _ | 2 | |2 MeSH |a Humans |
| 650 | _ | 2 | |2 MeSH |a Male |
| 650 | _ | 2 | |2 MeSH |a Mutation |
| 650 | _ | 2 | |2 MeSH |a Pedigree |
| 650 | _ | 2 | |2 MeSH |a Peptide Fragments: genetics |
| 650 | _ | 2 | |2 MeSH |a Phenotype |
| 650 | _ | 2 | |2 MeSH |a Retinitis Pigmentosa: genetics |
| 650 | _ | 2 | |2 MeSH |a Retinitis Pigmentosa: metabolism |
| 650 | _ | 2 | |2 MeSH |a Rhodopsin: genetics |
| 650 | _ | 2 | |2 MeSH |a Rhodopsin: metabolism |
| 650 | _ | 2 | |2 MeSH |a Rod Cell Outer Segment: metabolism |
| 650 | _ | 2 | |2 MeSH |a Vision, Ocular |
| 650 | _ | 7 | |0 0 |2 NLM Chemicals |a Peptide Fragments |
| 650 | _ | 7 | |0 9009-81-8 |2 NLM Chemicals |a Rhodopsin |
| 650 | _ | 7 | |a J |2 WoSType |
| 653 | 2 | 0 | |2 Author |a retinitis pigmentosa |
| 653 | 2 | 0 | |2 Author |a rhodopsin |
| 653 | 2 | 0 | |2 Author |a visual function |
| 653 | 2 | 0 | |2 Author |a phenotype |
| 653 | 2 | 0 | |2 Author |a protein stability prediction |
| 653 | 2 | 0 | |2 Author |a membrane protein misfolding |
| 700 | 1 | _ | |a Man, D. |b 1 |0 P:(DE-HGF)0 |
| 700 | 1 | _ | |a Waseem, N. |b 2 |0 P:(DE-HGF)0 |
| 700 | 1 | _ | |a Jennings, B. J. |b 3 |0 P:(DE-HGF)0 |
| 700 | 1 | _ | |a Ganapathiraju, M. |b 4 |0 P:(DE-HGF)0 |
| 700 | 1 | _ | |a Gallaher, K. |b 5 |0 P:(DE-HGF)0 |
| 700 | 1 | _ | |a Reese, E. |b 6 |0 P:(DE-HGF)0 |
| 700 | 1 | _ | |a Bhattacharya, S. S. |b 7 |0 P:(DE-HGF)0 |
| 700 | 1 | _ | |a Klein-Seetharaman, J. |b 8 |u FZJ |0 P:(DE-Juel1)VDB44599 |
| 773 | _ | _ | |a 10.1016/j.visres.2006.08.018 |g Vol. 46, p. 4556 - 4567 |p 4556 - 4567 |q 46<4556 - 4567 |0 PERI:(DE-600)2011974-4 |t Vision research |v 46 |y 2006 |x 0042-6989 |
| 856 | 7 | _ | |u http://dx.doi.org/10.1016/j.visres.2006.08.018 |
| 909 | C | O | |o oai:juser.fz-juelich.de:54920 |p VDB |
| 913 | 1 | _ | |k P33 |v Funktion und Dysfunktion des Nervensystems |l Funktion und Dysfunktion des Nervensystems |b Gesundheit |0 G:(DE-Juel1)FUEK409 |x 0 |
| 914 | 1 | _ | |y 2006 |
| 915 | _ | _ | |0 StatID:(DE-HGF)0010 |a JCR/ISI refereed |
| 920 | 1 | _ | |k IBI-2 |l Biologische Strukturforschung |d 31.12.2006 |g IBI |0 I:(DE-Juel1)VDB58 |x 0 |
| 970 | _ | _ | |a VDB:(DE-Juel1)85766 |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a ConvertedRecord |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a I:(DE-Juel1)ISB-2-20090406 |
| 980 | _ | _ | |a UNRESTRICTED |
| 980 | _ | _ | |a I:(DE-Juel1)ICS-6-20110106 |
| 981 | _ | _ | |a I:(DE-Juel1)IBI-7-20200312 |
| 981 | _ | _ | |a I:(DE-Juel1)ISB-2-20090406 |
| 981 | _ | _ | |a I:(DE-Juel1)ICS-6-20110106 |
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