ArticleNature genetics2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers.
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Who cites it
127 citing papers in PubMed, 189 citations in OpenAlex.
- COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.Genome medicine · 2026Article
- Visualization of photoreceptor outer segment renewal using AAV-delivered Dendra2-tagged rhodopsin.bioRxiv : the preprint server for biology · 2025Article
- iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis.Stem cell research & therapy · 2025Article
- Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.NPJ genomic medicine · 2024Article
- The dominant findings of a recessive man: from Mendel's kid pea to kidney.Pediatric nephrology (Berlin, Germany) · 2024Review
- Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.International journal of molecular sciences · 2023Review
- Review
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.NPJ genomic medicine · 2022Article
- Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.Human molecular genetics · 2022Article
- Agonists of prostaglandin EProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.NPJ genomic medicine · 2021Article
- Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.Molecular biology of the cell · 2021Article
- Protein Kinase A in Human Retina: Differential Localization of Cβ, Cα, RIIα, and RIIβ in Photoreceptors Highlights Non-redundancy of Protein Kinase A Subunits.Frontiers in molecular neuroscience · 2021Article
- Centriolar Protein C2cd3 Is Required for Craniofacial Development.Frontiers in cell and developmental biology · 2021Article
67 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 14 institutions in 7 countries.
Funding
Abstract
Degeneration of photoreceptors is a common feature of ciliopathies, owing to the importance of the specialized ciliary structure of these cells. Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration. We show that Ahi1-null mice fail to form retinal outer segments and have abnormal distribution of opsin throughout their photoreceptors. Apoptotic cell death of photoreceptors occurs rapidly between 2 and 4 weeks of age in these mice and is significantly (P = 0.00175 and 0.00613) delayed by a reduced dosage of opsin. This phenotype also shows dosage-sensitive genetic interactions with Nphp1, another ciliopathy-related gene. Although it is not a primary cause of retinal blindness in humans, we show that an allele of AHI1 is associated with a more than sevenfold increase in relative risk of retinal degeneration within a cohort of individuals with the hereditary kidney disease nephronophthisis. Our data support context-specific roles for AHI1 as a contributor to retinopathy and show that AHI1 may explain a proportion of the variability in retinal phenotypes observed in nephronophthisis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.