Associated Papers
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
Sen P et al.
Indian Journal of Ophthalmology, 2023
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.
Delvallée C et al.
Cold Spring Harbor Perspectives in Medicine, 2023
A missense mutation in TTC8/BBS8 affecting mRNA splicing in patients with non-syndromic retinitis pigmentosa.
Goyal S et al.
Molecular Genetics and Genomics : Mgg, 2022
Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs.
Mäkeläinen S et al.
Genes, 2020
32962042 (PubMed )
Supplement: genes-11-01090-s001.zip › genes-11-01090-s001 › genes-926292-supplementary › Ma_kela_inen_Supplementary_tables_S1-S6.xlsx › Table_S6
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.
Dilan TL et al.
Human Molecular Genetics, 2018
Cilia - The sensory antennae in the eye.
May-Simera H et al.
Progress in Retinal and Eye Research, 2017
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).
Goyal S et al.
Clinical Genetics, 2016
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa.
Murphy D et al.
Molecular and Cellular Biology, 2015
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
Riazuddin SA et al.
American Journal of Human Genetics, 2010
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