Article

Evolutionarily conserved genetic interactions between <i>nphp-4</i> and <i>bbs-5</i> mutations exacerbate ciliopathy phenotypes

2021-08-26

Abstract excerpt

Primary cilia are sensory and signaling hubs with a protein composition that is distinct from the rest of the cell due to the barrier function of the transition zone (TZ) at the base of the cilium. Protein transport across the TZ is mediated in part by the BBSome, and mutations disrupting TZ and BBSome proteins cause human ciliopathy syndromes. Ciliopathies have phenotypic variability even among patients with iden...

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Literature Corpus work: 9daa5cb9-b674-577a-be5e-450f484bf9c9
DOI: 10.1101/2021.08.25.457729

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