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Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.
Felline A, Seeber M, Rao F, Fanelli F. Felline A, et al. J Chem Theory Comput. 2009 Sep 8;5(9):2472-85. doi: 10.1021/ct900145u. J Chem Theory Comput. 2009. PMID: 26616627
Rhodopsin mutations account for >25% of the autosomal dominant form of the disease (ADRP). Forty artificial and ADRP-associated mutations located in the second extracellular loop (EL2) that folds into a twisted beta-hairpin were screened thro
Rhodopsin mutations account for >25% of the autosomal dominant form of the disease (ADRP). Forty artificial and ADRP-ass
In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL, Sergeev YV. McCafferty CL, et al. Sci Rep. 2016 Dec 1;6:37298. doi: 10.1038/srep37298. Sci Rep. 2016. PMID: 27905547 Free PMC article.
The effect of disease-causing missense mutations on protein folding is difficult to evaluate. To understand this relationship, we developed the unfolding mutation screen (UMS) for in silico evaluation of the severity of genetic perturbations at the atomic lev …
The effect of disease-causing missense mutations on protein folding is difficult to evaluate. To understand this relationship, we dev …
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Nishiguchi KM, Miya F, Mori Y, Fujita K, Akiyama M, Kamatani T, Koyanagi Y, Sato K, Takigawa T, Ueno S, Tsugita M, Kunikata H, Cisarova K, Nishino J, Murakami A, Abe T, Momozawa Y, Terasaki H, Wada Y, Sonoda KH, Rivolta C, Tsunoda T, Tsujikawa M, Ikeda Y, Nakazawa T. Nishiguchi KM, et al. Commun Biol. 2021 Jan 29;4(1):140. doi: 10.1038/s42003-021-01662-9. Commun Biol. 2021. PMID: 33514863 Free PMC article.
The genetic basis of Japanese autosomal recessive retinitis pigmentosa (ARRP) remains largely unknown. Herein, we applied a 2-step genome-wide association study (GWAS) in 640 Japanese patients. ...Two of the three were each in linkage disequilibrium with a di …
The genetic basis of Japanese autosomal recessive retinitis pigmentosa (ARRP) remains largely unknown. Herein, we applied a 2- …