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A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: reddy gb. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.
Spatial and temporal expression of MFRP and its interaction with CTRP5.
Mandal MN, Vasireddy V, Jablonski MM, Wang X, Heckenlively JR, Hughes BA, Reddy GB, Ayyagari R. Mandal MN, et al. Among authors: reddy gb. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5514-21. doi: 10.1167/iovs.06-0449. Invest Ophthalmol Vis Sci. 2006. PMID: 17122143
Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death.
Vasireddy V, Uchida Y, Salem N Jr, Kim SY, Mandal MN, Reddy GB, Bodepudi R, Alderson NL, Brown JC, Hama H, Dlugosz A, Elias PM, Holleran WM, Ayyagari R. Vasireddy V, et al. Among authors: reddy gb. Hum Mol Genet. 2007 Mar 1;16(5):471-82. doi: 10.1093/hmg/ddl480. Epub 2007 Jan 5. Hum Mol Genet. 2007. PMID: 17208947 Free PMC article.
A novel rat model with obesity-associated retinal degeneration.
Reddy GB, Vasireddy V, Mandal MN, Tiruvalluru M, Wang XF, Jablonski MM, Nappanveettil G, Ayyagari R. Reddy GB, et al. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3456-63. doi: 10.1167/iovs.08-2498. Epub 2009 Apr 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19369235 Free PMC article.
Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. Cukras C, et al. Among authors: reddy gb. PLoS One. 2012;7(11):e50205. doi: 10.1371/journal.pone.0050205. Epub 2012 Nov 26. PLoS One. 2012. PMID: 23189188 Free PMC article.
239 results