'RetinoGenetics': A comprehensive mutation database for genes related to inherited retinal degeneration

Database

Volumn 2014, Issue , 2014, Pages

  Ran, Xia ^a   Cai, Wei Jun ^b,c   Huang, Xiu Feng ^b,c   Liu, Qi ^a   Lu, Fan ^b,c   Qu, Jia ^b,c   Wu, Jinyu ^a   Jin, Zi Bing ^b,c  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b EYE HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

^c State Key Laboratory Cultivation Base   (China)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84987624440     PISSN: 17580463     EISSN: None     Source Type: Journal    
DOI: 10.1093/database/bau047     Document Type: Article

References (32)

1. Flannery, J.G. (1999) Transgenic animal models for the study of inherited retinal dystrophies. ILAR J., 40, 51-58.
2. Huang, S.P., Craft, C.M. (2012) Potential cellular functions of N-ethylmaleimide sensitive factor in the photoreceptor. Adv. Exp. Med. Biol., 723, 791-797.
3. Daiger, S.P. (2004) Identifying retinal disease genes: how far have we come, how far do we have to go? Novartis Found. Symp., 255, 17-27; discussion 27-36, 177-178.
4. Daiger, S.P., Sullivan, L.S., Bowne, S.J. (2013) Genes and mutations causing retinitis pigmentosa. Clin. Genet., 84, 132-141.
5. Chacon-Camacho, O.F., Jitskii, S., Buentello-Volante, B. et al. (2013) Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. Gene, 528, 178-182.
6. Eisenberger, T., Slim, R., Mansour, A. et al. (2012) Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J. Rare Dis., 7, 59.
7. Glockle, N., Kohl, S., Mohr, J. et al. (2014) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur. J. Hum. Genet, 22, 99-104.
8. Shanks, M.E., Downes, S.M., Copley, R.R. et al. (2013) Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur. J. Hum. Genet., 21, 274-280.
9. Webb, T.R., Parfitt, D.A., Gardner, J.C. et al. (2012) Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum. Mol. Genet., 21, 3647-3654.
10. Kawamura, T., Ohtsubo, M., Mitsuyama, S. et al. (2010) KMeyeDB: a graphical database of mutations in genes that cause eye diseases. Hum. Mutat., 31, 667-674.
11. Minoshima, S., Mitsuyama, S., Ohno, S. et al. (2000) Eye disorder database "KMeyeDB". Hum. Mutat., 15, 95-98.
12. Minoshima, S., Mitsuyama, S., Ohno, S. et al. (1999) Keio Mutation Database for eye disease genes (KMeyeDB). Nucleic Acids Res., 27, 358-361.
13. Out, A.A., Tops, C.M., Nielsen, M. et al. (2010) Leiden Open Variation Database of the MUTYH gene. Hum. Mutat., 31, 1205-1215.
14. Hamosh, A., Scott, A.F., Amberger, J.S. et al. (2005) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res., 33, D514-D517.
15. Wang, J., Duncan, D., Shi, Z. et al. (2013) WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013. Nucleic Acids Res., 41, W77-W83.
16. Zhang, B., Kirov, S., Snoddy, J. (2005) WebGestalt: an integrated system for exploring gene sets in various biological contexts. Nucleic Acids Res., 33, W741-W748.
17. Machalinska, A., Kawa, M., Pius-Sadowska, E. et al. (2013) Long-term neuroprotective effects of NT-4-engineered mesenchymal stem cells injected intravitreally in a mouse model of acute retinal injury. Invest. Ophthalmol. Vis. Sci., 54, 8292-8305.
18. Tremblay, M.E., Zettel, M.L., Ison, J.R. et al. (2012) Effects of aging and sensory loss on glial cells in mouse visual and auditory cortices. Glia, 60, 541-558.
19. Campello, L., Esteve-Rudd, J., Bru-Martinez, R. et al. (2013) Alterations in energy metabolism, neuroprotection and visual signal transduction in the retina of Parkinsonian, MPTP-treated monkeys. PLoS One, 8, e74439.
20. Lancaster, M.A., Gleeson, J.G. (2009) The primary cilium as a cellular signaling center: lessons from disease. Curr. Opin. Genet. Dev., 19, 220-229.
21. Gilliam, J.C., Chang, J.T., Sandoval, I.M. et al. (2012) Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegeneration. Cell, 151, 1029-1041.
22. Fujita, P.A., Rhead, B., Zweig, A.S. et al. (2011) The UCSC Genome Browser database: update 2011. Nucleic Acids Res., 39, D876-D882.
23. Wang, K., Li, M., Hakonarson, H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164.
24. Sherry, S.T., Ward, M.H., Kholodov, M. et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res., 29, 308-311.
25. Abecasis, G.R., Auton, A., Brooks, L.D. et al. (2012) An integrated map of genetic variation from 1, 092 human genomes. Nature, 491, 56-65.
26. Wang, X., Wang, H., Sun, V. et al. (2013) Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J. Med. Genet., 50, 674-688.
27. Abu-Safieh, L., Alrashed, M., Anazi, S. et al. (2013) Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res., 23, 236-247.
28. Neveling, K., Collin, R.W., Gilissen, C. et al. (2012) Next-generation genetic testing for retinitis pigmentosa. Hum. Mutat., 33, 963-972.
29. Manes, G., Meunier, I., Avila-Fernandez, A. et al. (2013) Mutations in IMPG1 cause vitelliform macular dystrophies. American J. Hum. Genet., 93, 571-578.
30. Zhang, Q., Nishimura, D., Vogel, T. et al. (2013) BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J. Cell Sci., 126, 2372-2380.
31. Nishiguchi, K.M., Tearle, R.G., Liu, Y.P. et al. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc. Natl Acad. Sci. USA, 110, 16139-16144.
32. Roosing, S., Rohrschneider, K., Beryozkin, A. et al. (2013) Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet., 93, 110-117.