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Article

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.

PLoS genetics - 1 Mar 2020

Kaukonen Maria, Quintero Ileana B, Mukarram Abdul Kadir, Hytönen Marjo K, Holopainen Saila, Wickström Kaisa, Kyöstilä Kaisa, Arumilli Meharji, Jalomäki Sari, Daub Carsten O, Kere Juha, Lohi Hannes

Abstract excerpt

Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected worldwide. Many genes have been implicated in RP, yet in 30-80% of the RP patients the genetic cause remains unknown. A similar phenotype, progressive retinal atrophy (PRA), affects many dog breeds including the Miniature Schnauzer. We performed clinical, genetic and functional experiments to identify the genetic...

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PMID: 32150541
DOI: 10.1371/journal.pgen.1008659
PMCID: PMC7082071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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