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000054920 0247_ $$2DOI$$a10.1016/j.visres.2006.08.018
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000054920 084__ $$2WoS$$aNeurosciences
000054920 084__ $$2WoS$$aOphthalmology
000054920 1001_ $$0P:(DE-HGF)0$$aIannaccone, A.$$b0
000054920 245__ $$aRetinitis Pigmentosa Asssociated with Rhodopsin Mutations: Correlation between Phenotypic Variability and Molecular Effects.
000054920 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2006
000054920 300__ $$a4556 - 4567
000054920 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article
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000054920 440_0 $$05938$$aVision Research$$v46$$x0042-6989$$y27
000054920 500__ $$aRecord converted from VDB: 12.11.2012
000054920 520__ $$aSimilar 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.
000054920 536__ $$0G:(DE-Juel1)FUEK409$$2G:(DE-HGF)$$aFunktion und Dysfunktion des Nervensystems$$cP33$$x0
000054920 588__ $$aDataset connected to Web of Science, Pubmed
000054920 650_2 $$2MeSH$$aAdolescent
000054920 650_2 $$2MeSH$$aAdult
000054920 650_2 $$2MeSH$$aAge Factors
000054920 650_2 $$2MeSH$$aAmino Acid Substitution
000054920 650_2 $$2MeSH$$aChild
000054920 650_2 $$2MeSH$$aChild, Preschool
000054920 650_2 $$2MeSH$$aComputational Biology
000054920 650_2 $$2MeSH$$aDNA Mutational Analysis
000054920 650_2 $$2MeSH$$aDisease Progression
000054920 650_2 $$2MeSH$$aElectroretinography
000054920 650_2 $$2MeSH$$aFemale
000054920 650_2 $$2MeSH$$aHumans
000054920 650_2 $$2MeSH$$aMale
000054920 650_2 $$2MeSH$$aMutation
000054920 650_2 $$2MeSH$$aPedigree
000054920 650_2 $$2MeSH$$aPeptide Fragments: genetics
000054920 650_2 $$2MeSH$$aPhenotype
000054920 650_2 $$2MeSH$$aRetinitis Pigmentosa: genetics
000054920 650_2 $$2MeSH$$aRetinitis Pigmentosa: metabolism
000054920 650_2 $$2MeSH$$aRhodopsin: genetics
000054920 650_2 $$2MeSH$$aRhodopsin: metabolism
000054920 650_2 $$2MeSH$$aRod Cell Outer Segment: metabolism
000054920 650_2 $$2MeSH$$aVision, Ocular
000054920 650_7 $$00$$2NLM Chemicals$$aPeptide Fragments
000054920 650_7 $$09009-81-8$$2NLM Chemicals$$aRhodopsin
000054920 650_7 $$2WoSType$$aJ
000054920 65320 $$2Author$$aretinitis pigmentosa
000054920 65320 $$2Author$$arhodopsin
000054920 65320 $$2Author$$avisual function
000054920 65320 $$2Author$$aphenotype
000054920 65320 $$2Author$$aprotein stability prediction
000054920 65320 $$2Author$$amembrane protein misfolding
000054920 7001_ $$0P:(DE-HGF)0$$aMan, D.$$b1
000054920 7001_ $$0P:(DE-HGF)0$$aWaseem, N.$$b2
000054920 7001_ $$0P:(DE-HGF)0$$aJennings, B. J.$$b3
000054920 7001_ $$0P:(DE-HGF)0$$aGanapathiraju, M.$$b4
000054920 7001_ $$0P:(DE-HGF)0$$aGallaher, K.$$b5
000054920 7001_ $$0P:(DE-HGF)0$$aReese, E.$$b6
000054920 7001_ $$0P:(DE-HGF)0$$aBhattacharya, S. S.$$b7
000054920 7001_ $$0P:(DE-Juel1)VDB44599$$aKlein-Seetharaman, J.$$b8$$uFZJ
000054920 773__ $$0PERI:(DE-600)2011974-4$$a10.1016/j.visres.2006.08.018$$gVol. 46, p. 4556 - 4567$$p4556 - 4567$$q46<4556 - 4567$$tVision research$$v46$$x0042-6989$$y2006
000054920 8567_ $$uhttp://dx.doi.org/10.1016/j.visres.2006.08.018
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