Mutations Causing a Developmental Ciliopathy Disrupt Integrator Complex Assembly
收藏NIAID Data Ecosystem2026-03-14 收录
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IPs of integrator complex proteins from human and fly
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2023-03-10
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Additional file 1 of Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies
Supplementary Material 1. Table S1. The list of retinal ciliopathies genes reported in literature.
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Table_6_Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium.XLSX
Primary cilia are sensory organelles vital for developmental and physiological processes. Their dysfunction causes a range of phenotypes including retinopathies. Although primary cilia have been descr
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Table1_A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.XLSX
Patient variants in Tubby Like Protein-3 (TULP3) have recently been associated with progressive fibrocystic disease in tissues and organs. TULP3 is a ciliary trafficking protein that links membrane-as
NIAID Data Ecosystem20
The numerical data for the graphs shown in Fig 3.
The primary cilium is a signal transduction organelle whose dysfunction clinically causes ciliopathies in humans. RAB23 is a small GTPase known to regulate the Hedgehog signalling pathway and ciliary
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Differential requirement for centriolar satellites in cilium formation and ciliary signaling among different vertebrate cells
Centriolar satellites are an array of membrane-less granules that localize and move around the vertebrate centrosome/cilium complex. They have recently emerged as key regulators of the biogenesis an
NIAID Data Ecosystem20
