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10.1167/iovs.14-14570 http://scihub22266oqcxt.onion/10.1167/iovs.14-14570 C4580213!4580213!25074776     free     free     free Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Invest+Ophthalmol+Vis+Sci 2014 ; 55 (8): 5354-64 Nephropedia Template TP {{tp|p=25074776|t=2014. TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones |pdf=|usr=}}{{25074776}} gab.com Text TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones JO: Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=25074776 #FOAvip Purpose.To investigate visual function and outer and inner retinal structure in the rare form of retinal degeneration (RD) caused by TULP1 (tubby-like protein 1) mutations. Methods.Retinal degeneration patients with TULP1 mutations (n = 5; age range, 5?36 years) were studied by kinetic and chromatic static perimetry, en face autofluorescence imaging, and spectral-domain optical coherence tomography (OCT) scans. Outer and inner retinal laminar thickness were measured and mapped across the central retina. Comparisons were made with results from patients with RD associated with four ciliopathy genotypes (MAK, RPGR, BBS1, and USH2A). Results.The TULP1-RD patients were severely affected already in the first decade of life and there was rapidly progressive visual loss. No evidence of rod function was present at any age. Small central islands showed melanized retinal pigment epithelium by autofluorescence imaging and well-preserved photoreceptor laminar thickness by OCT imaging. There was extracentral loss of laminar architecture and increased inner retinal thickening. Structure-function relationships in residual foveal cone islands were made in TULP1-RD patients and in other retinopathies considered ciliopathies. Patients with TULP1-RD, unlike the others, had greater dysfunction for the degree of foveal structural preservation. Conclusions.Retinal degeneration with TULP1 mutations leads to a small central island of residual foveal cones at early ages. These cones are less sensitive than expected from the residual structure. The human phenotype is consistent with experimental evidence in the Tulp1 knockout mouse model that visual dysfunction could be complicated by abnormal processes proximal to cone outer segments. Twit Text FOAVip TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones ????Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=25074776 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25074776 #FOAvip English Wikipedia <ref>{{Cite pmid|25074776}}</ref> TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones #MMPMID25074776 Jacobson SG; Cideciyan AV; Huang WC; Sumaroka A; Roman AJ; Schwartz SB; Luo X; Sheplock R; Dauber JM; Swider M; Stone EM Invest Ophthalmol Vis Sci 2014[Aug]; 55 (8): 5354-64 PMID25074776show ga Purpose.To investigate visual function and outer and inner retinal structure in the rare form of retinal degeneration (RD) caused by TULP1 (tubby-like protein 1) mutations. Methods.Retinal degeneration patients with TULP1 mutations (n = 5; age range, 5?36 years) were studied by kinetic and chromatic static perimetry, en face autofluorescence imaging, and spectral-domain optical coherence tomography (OCT) scans. Outer and inner retinal laminar thickness were measured and mapped across the central retina. Comparisons were made with results from patients with RD associated with four ciliopathy genotypes (MAK, RPGR, BBS1, and USH2A). Results.The TULP1-RD patients were severely affected already in the first decade of life and there was rapidly progressive visual loss. No evidence of rod function was present at any age. Small central islands showed melanized retinal pigment epithelium by autofluorescence imaging and well-preserved photoreceptor laminar thickness by OCT imaging. There was extracentral loss of laminar architecture and increased inner retinal thickening. Structure-function relationships in residual foveal cone islands were made in TULP1-RD patients and in other retinopathies considered ciliopathies. Patients with TULP1-RD, unlike the others, had greater dysfunction for the degree of foveal structural preservation. Conclusions.Retinal degeneration with TULP1 mutations leads to a small central island of residual foveal cones at early ages. These cones are less sensitive than expected from the residual structure. The human phenotype is consistent with experimental evidence in the Tulp1 knockout mouse model that visual dysfunction could be complicated by abnormal processes proximal to cone outer segments. äTULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved bu(epmc).pdf DeepDyve Pubget Overpricing