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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231912033
Abstract: Mutations in C8orf37 cause Bardet-Biedl syndrome (BBS), retinitis pigmentosa (RP), and coneārod dystrophy (CRD), all manifest in photoreceptor degeneration. Little is known about which proteins C8orf37 interacts with to contribute to photoreceptor survival. To determine…
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Keywords:
c8orf37 fam161a;
interactions c8orf37;
photoreceptor survival;
fam161a two ... See more keywords
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Published in 2022 at "eLife"
DOI: 10.7554/elife.83205
Abstract: Ciliopathies manifest from sensory abnormalities to syndromic disorders with multiorgan pathologies, with retinal degeneration a highly penetrant phenotype. Photoreceptor cell death is a major cause of incurable blindness in retinal ciliopathies. To identify drug candidates…
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Keywords:
reserpine;
reserpine maintains;
rd16 mouse;
photoreceptor survival ... See more keywords