PMC:4129401 / 34847-35750 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4129401","sourcedb":"PMC","sourceid":"4129401","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4129401","text":"Pearson et al. showed that in the absence of Poc1b, zebrafish present with various phenotypes that point toward a syndromic ciliopathy.15 In contrast, the POC1B mutations identified in this study are associated with a much milder, nonsyndromic cone-disease phenotype in two families. Although species-specific differences might contribute to the observed phenotypic heterogeneity, on the basis of the type and combinations of mutations identified and the reduced, but not absent, interaction between the altered POC1B and the retina-specific FAM161A, it is plausible to conclude that individuals with COD have residual POC1B activity. Combinations of more severe and/or loss-of-function POC1B mutations therefore might be associated with syndromic forms of retinal ciliopathies, in line with the wide disease spectrum previously observed for another ciliopathy-associated gene, CEP290 (MIM 160142).38–41","tracks":[{"project":"2_test","denotations":[{"id":"25018096-20008567-2046754","span":{"begin":135,"end":137},"obj":"20008567"},{"id":"25018096-16682970-2046755","span":{"begin":901,"end":903},"obj":"16682970"},{"id":"25018096-16682973-2046755","span":{"begin":901,"end":903},"obj":"16682973"},{"id":"25018096-17705300-2046755","span":{"begin":901,"end":903},"obj":"17705300"},{"id":"25018096-16909394-2046755","span":{"begin":901,"end":903},"obj":"16909394"}],"attributes":[{"subj":"25018096-20008567-2046754","pred":"source","obj":"2_test"},{"subj":"25018096-16682970-2046755","pred":"source","obj":"2_test"},{"subj":"25018096-16682973-2046755","pred":"source","obj":"2_test"},{"subj":"25018096-17705300-2046755","pred":"source","obj":"2_test"},{"subj":"25018096-16909394-2046755","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#a6ec93","default":true}]}]}}