ReviewClinical genetics2026
Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.
Review in Clinical genetics, 2026. 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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0 citing papers in PubMed.
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Authors and funding
13 authors.
Funding
Abstract
IFT172 is a core component of intraflagellar transport complex B (IFT-B), and pathogenic IFT172 variants disrupt ciliary transport, receptor localization, and tissue-specific signaling. This review summarizes evidence linking IFT172 dysfunction to neurological, retinal, skeletal, renal, and syndromic ciliopathy phenotypes, with emphasis on Bardet-Biedl syndrome, Joubert-spectrum disease, orofaciodigital syndrome, Mainzer-Saldino syndrome, and retinal degeneration. Current data support a primary role for IFT172 in IFT-train assembly, tip remodeling, anterograde-to-retrograde transition, and cilia-dependent signaling; downstream metabolic, oxidative, and inflammatory changes are interpreted as context-dependent secondary modules rather than uniform linear cascades. We further discuss diagnostic interpretation and the practical boundaries of gene, splice-correction, and pathway-modulation strategies. By aligning molecular mechanisms with organ vulnerability, this review provides a concise framework for interpreting IFT172-associated ciliopathies and for prioritizing future translational studies.
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