Below are the most recent publications written about "Eye Abnormalities" by people in Profiles.
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Rana M, Mohanty M. The spectrum of sleep disordered breathing in Joubert Syndrome. Sleep Med. 2018 12; 52:177-179.
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Shi X, Garcia G, Van De Weghe JC, McGorty R, Pazour GJ, Doherty D, Huang B, Reiter JF. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert?syndrome. Nat Cell Biol. 2017 Oct; 19(10):1178-1188.
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Rao KN, Zhang W, Li L, Anand M, Khanna H. Prenylated retinal ciliopathy protein RPGR interacts with PDE6d and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. Hum Mol Genet. 2016 10 15; 25(20):4533-4545.
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Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Hum Mol Genet. 2015 Jul 15; 24(14):3994-4005.
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Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonaf? L, Superti-Furga A, Unger S. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. Am J Med Genet A. 2015 Jul; 167(7):1501-9.
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Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Am J Hum Genet. 2015 Jan 08; 96(1):121-35.
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P?rez E, Das G, Bergmann A, Baehrecke EH. Autophagy regulates tissue overgrowth in a context-dependent manner. Oncogene. 2015 Jun; 34(26):3369-76.
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Velentzas PD, Velentzas AD, Pantazi AD, Mpakou VE, Zervas CG, Papassideri IS, Stravopodis DJ. Proteasome, but not autophagy, disruption results in severe eye and wing dysmorphia: a subunit- and regulator-dependent process in Drosophila. PLoS One. 2013; 8(11):e80530.
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Lu Y, Zhang Z, Sun D, Sweeney ST, Gao FB. Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation. Mol Cell. 2013 Oct 24; 52(2):264-71.
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Vernon HJ, Bytyci Telegrafi A, Batista D, Owegi M, Leigh R. 6p25 microdeletion: white matter abnormalities in an adult patient. Am J Med Genet A. 2013 Jul; 161A(7):1686-9.