Concepedia

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa, Alejandro Estrada‐Cuzcano, Irma López, Anneke I. den Hollander, Marijke N. Zonneveld, Mohammad Othman, Naushin Waseem, Christina Chakarova,

Nature Genetics · 2009 · 268 citations · 27 references

DOI

Concepts

References

27

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer et al. · The American Journal of Human Genetics · 2006 · 676 citations · Full text

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Alison Ross, Helen May‐Simera, Erica R. Eichers et al. · Nature Genetics · 2005 · 552 citations

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Kif3a constrains β-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

Kevin C. Corbit, Amy E. Shyer, William E. Dowdle et al. · Nature Cell Biology · 2007 · 507 citations

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 493 citations

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