ReviewAdvances in experimental medicine and biology2025
The Genetic Basis of IRDS and the Role of Genetic Testing.
Review in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
3 authors.
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Abstract
Most of the major clinical IRD) phenotypes are monogenic conditions and demonstrate classic Mendelian inheritance patterns. More than 300 genes have been implicated in IRDs, many of which are involved in phototransduction, the retinoid cycle, photoreceptor cell structure, structure and function of the connecting cilium, transcription factors, and RNA splicing (Fig. 58.1; Hamel 2014; Dias et al. 2018). Studies involving relatively large patient cohorts have documented 4798 discrete variants in 194 genes (Schneider et al. 2022). The majority of variants either alter one or more amino acid in sequence (missense mutations) or prematurely truncate proteins (nonsense mutations). Smaller percentages of mutations affect RNA splicing, start and stop codons, or control regions (Schneider et al. 2022).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.