Associated Papers
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
Sen S et al.
American Journal of Ophthalmology, 2024
Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.
McDonald A et al.
International Journal of Molecular Sciences, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.
Kruczek K et al.
Stem Cell Reports, 2022
Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.
Ronquillo CC et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Stone EM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
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