Carrie Louie, Ph.D.
Affiliations: | 2010 | Biomedical Sciences | University of California, San Diego, La Jolla, CA |
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Parents
Sign in to add mentor| Joseph G. Gleeson | grad student | 2010 | City of Hope | |
| (Ciliopathies: Molecular and genetic basis for Ahi1 function in retinal degeneration.) | ||||
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Publications
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| Lee JE, Silhavy JL, Zaki MS, et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9 |
| Lancaster MA, Gopal DJ, Kim J, et al. (2011) Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nature Medicine. 17: 726-31 |
| Louie CM, Caridi G, Lopes VS, et al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nature Genetics. 42: 175-80 |
| Lancaster MA, Louie CM, Silhavy JL, et al. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nature Medicine. 15: 1046-54 |
| Valente EM, Silhavy JL, Brancati F, et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics. 38: 623-5 |
| Louie CM, Gleeson JG. (2005) Genetic basis of Joubert syndrome and related disorders of cerebellar development. Human Molecular Genetics. 14: R235-42 |
| Dixon-Salazar T, Silhavy JL, Marsh SE, et al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. American Journal of Human Genetics. 75: 979-87 |