Global Journal of Medical Research, F: Diseases, Volume 22 Issue 4
23 Year 2022 Global Journal of Medical Research Volume XXII Issue IV Version I ( D ) F © 2022 Global Journals Computational Analysis of Possibly Pathogenic Non-Synonymous Single Nucleotide Polymorphisms Variants in HGD Gene R eferences R éférences R eferencias 1. Adzhubei, I., Jordan, D.M. and Sunyaev, S.R., 2013. Predicting functional effect of human missense mutations using PolyPhen ‐ 2. Current protocols in human genetics, 76(1), pp.7-20. 2. Aliu, E., Kanungo, S. and Arnold, G.L., 2018. Amino acid disorders. Annals of translational medicine, 6(24). 3. Amberger, J., Bocchini, C.A., Scott, A.F. and Hamosh, A., 2009. McKusick's online Mendelian inheritance in man (OMIM®). Nucleic acids research, 37(suppl_1), pp.D793-D796. 4. Ascher, D.B., Spiga, O., Sekelska, M., Pires, D.E., Bernini, A., Tiezzi, M., Kralovicova, J., Borovska, I., Soltysova, A., Olsson, B. and Galderisi, S., 2019. Homogentisate 1, 2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU. European Journal of Human Genetics, 27(6), pp.888-902. 5. Bernini, A., Petricci, E., Atrei, A., Baratto, M.C., Manetti, F. and Santucci, A., 2021. A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria. Scientific reports, 11(1), pp.1-14. 6. Calabrese, R., Capriotti, E., Fariselli, P., Martelli, P.L. and Casadio, R., 2009. Functional annotations improve the predictive score of human disease ‐ related mutations in proteins. Human mutation, 30(8), pp.1237-1244. 7. Capriotti, E., Calabrese, R. and Casadio, R., 2006. Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics, 22(22), pp.2729-2734. 8. Cheng, J., Randall, A. and Baldi, P., 2006. Prediction of protein stability changes for single ‐ site mutations using support vector machines. Proteins: Structure, Function, and Bioinformatics, 62(4), pp.1125-1132. 9. Choi, Y., 2012, October. A fast computation of pairwise sequence alignment scores between a protein and a set of single-locus variants of another protein. In Proceedings of the ACM conference on bioinformatics, computational biology and biomedicine (pp. 414-417). 10. Choi, Y., Sims, G.E., Murphy, S., Miller, J.R. and Chan, A.P., 2012. Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 7(10): e46688. 11. Das, S.C., Rahman, M. and Das Gupta, S., 2022. In- silico analysis unravels the structural and functional consequences of non-synonymous SNPs in the human IL-10 gene. Egyptian Journal of Medical Human Genetics, 23(1), pp.1-14. 12. de Bernabé, D.B.V., Granadino, B., Chiarelli, I., Porfirio, B., Mayatepek, E., Aquaron, R., Moore, M.M., Festen, J.J.M., Sanmartí, R., Penalva, M.A. and de Córdoba, S.R., 1998. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. The American Journal of Human Genetics, 62(4), pp.776-784. 13. Fernández-Cañón, J.M., Granadino, B., De Bernabé, D.B.V., Renedo, M., Fernández-Ruiz, E., Peñalva, M.A. and De Córdoba, S.R., 1996. The molecular basis of alkaptonuria. Nature genetics, 14(1), pp.19-24. 14. Franz, M., Rodriguez, H., Lopes, C., Zuberi, K., Montojo, J., Bader, G.D. and Morris, Q., 2018. GeneMANIA update 2018. Nucleic acids research, 46(W1), pp.W60-W64., Web Server issue. DOI: 10.1093/var/gky311. 15. Higashino, K., 1998. A novel point mutation associated with alkaptonuria. Clin Genet, 53, pp. 228-229.. doi: 10.1111/j.1399-0004.1998.tb02684.x. 16. Kumar, P., Henikoff, S. and Ng, P.C., 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature protocols, 4(7), pp.1073-1081. 17. Laschi, M., Tinti, L., Braconi, D., Millucci, L., Ghezzi, L., Amato, L., Selvi, E., Spreafico, A., Bernardini, G. and Santucci, A., 2012. Homogentisate 1, 2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria. Journal of Cellular Physiology, 227(9), pp.3254-3257. 18. Magyar, C., Gromiha, M.M., Pujadas, G., Tusnady, G.E. and Simon, I., 2005. SRide: a server for identifying stabilizing residues in proteins. Nucleic acids research, 33(suppl_2), pp.W303-W305. 19. Nemethova, M., Radvanszky, J., Kadasi, L., Ascher, D.B., Pires, D.E., Blundell, T.L., Porfirio, B., Mannoni, A., Santucci, A., Milucci, L. and Sestini, S., 2016. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy. European Journal of Human Genetics, 24(1), pp.66-72. 20. Porfirio, B., Chiarelli, I., Graziano, C., Mannoni, A., MORRONE, A., ZAMMARCHI, E., DE BERNABÉ, D.B.V. and DE CÓRDOBA, S.R., 2000. Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1, 2-dioxygenase gene. Journal of Medical Genetics, 37(4), pp. 309-312. 21. Ramensky, V., Bork, P. and Sunyaev, S., 2002. Human non ‐ synonymous SNPs: server and survey. Nucleic acids research, 30(17), pp. 3894-3900. 22. Shameem, M.M., Sasikanth, S.M., Annamalai, R. and Raman, R.G., 2021. A brief review on polymer nanocomposites and its applications. Materials Today: Proceedings, 45, pp. 2536-2539.
RkJQdWJsaXNoZXIy NTg4NDg=