TY  - JOUR
AU  - Iannaccone, A.
AU  - Man, D.
AU  - Waseem, N.
AU  - Jennings, B. J.
AU  - Ganapathiraju, M.
AU  - Gallaher, K.
AU  - Reese, E.
AU  - Bhattacharya, S. S.
AU  - Klein-Seetharaman, J.
TI  - Retinitis Pigmentosa Asssociated with Rhodopsin Mutations: Correlation between Phenotypic Variability and Molecular Effects.
JO  - Vision research
VL  - 46
SN  - 0042-6989
CY  - Amsterdam [u.a.]
PB  - Elsevier Science
M1  - PreJuSER-54920
SP  - 4556 - 4567
PY  - 2006
N1  - Record converted from VDB: 12.11.2012
AB  - 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.
KW  - Adolescent
KW  - Adult
KW  - Age Factors
KW  - Amino Acid Substitution
KW  - Child
KW  - Child, Preschool
KW  - Computational Biology
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Electroretinography
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Peptide Fragments: genetics
KW  - Phenotype
KW  - Retinitis Pigmentosa: genetics
KW  - Retinitis Pigmentosa: metabolism
KW  - Rhodopsin: genetics
KW  - Rhodopsin: metabolism
KW  - Rod Cell Outer Segment: metabolism
KW  - Vision, Ocular
KW  - Peptide Fragments (NLM Chemicals)
KW  - Rhodopsin (NLM Chemicals)
KW  - J (WoSType)
LB  - PUB:(DE-HGF)16
C6  - pmid:17014888
UR  - <Go to ISI:>//WOS:000242674400015
DO  - DOI:10.1016/j.visres.2006.08.018
UR  - https://juser.fz-juelich.de/record/54920
ER  -