{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T05:20:12Z","timestamp":1788412812275,"version":"build-2803163510"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"1","funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Genome-wide association studies have uncovered mostly non-coding variants at over 60 genetic loci linked to susceptibility for age-related macular degeneration (AMD). To ascertain the causal gene at the PILRB\/PILRA locus, we used a CRISPR strategy to produce germline deletions in the mouse paired immunoglobin-like type 2 receptor (Pilr) genes that encode highly related activating (PILRB) and inhibitory (PILRA) receptors. We show that a combined loss of Pilrb1 and Pilrb2, but not Pilra, leads to an early but relatively stationary defect as the electroretinography (ERG) amplitudes of Pilrb1\/2\u2212\/\u2212 mice exhibit a marked reduction as early as postnatal day 15 and do not show additional significant decrease at 3 and 12-months. No alterations are evident in M\u00fcller glia, microglia, bipolar, amacrine and horizontal cells based on immunohistochemistry using cell-type specific markers. PILRB immunostaining is specifically detected at the proximal part of photoreceptor outer segment. Reduced expression of select calcium-regulated phototransduction and synapse-associated proteins, including GCAP1 and 2, PDE6b, AIPL1, PSD95, and CTBP1 indicates dysregulation of calcium homeostasis as a possible mechanism of retinal phenotype in Pilrb1\/2\u2212\/\u2212 mice. Our studies suggest a novel function of PILRB in retinal photoreceptors and an association of PILRB, but not PILRA, with AMD pathogenesis.<\/jats:p>","DOI":"10.1093\/hmg\/ddae161","type":"journal-article","created":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T23:30:09Z","timestamp":1731454209000},"page":"64-76","source":"Crossref","is-referenced-by-count":4,"title":["Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina"],"prefix":"10.1093","volume":"34","author":[{"given":"Partha Narayan","family":"Dey","sequence":"first","affiliation":[{"name":"Neurobiology , Neurodegeneration & Repair Laboratory, , 6 Center Drive, MSC0610, Bethesda, MD 20892,","place":["United States"]},{"name":"National Eye Institute, National Institutes of Health , Neurodegeneration & Repair Laboratory, , 6 Center Drive, MSC0610, Bethesda, MD 20892,","place":["United 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