Below are the most recent publications written about "Kidney Diseases, Cystic" by people in Profiles.
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Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. Prenat Diagn. 2024 02; 44(2):237-246.
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Pazour GJ, Quarmby L, Smith AO, Desai PB, Schmidts M. Cilia in cystic kidney and other diseases. Cell Signal. 2020 05; 69:109519.
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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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Desai PB, San Agustin JT, Stuck MW, Jonassen JA, Bates CM, Pazour GJ. Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development. Mech Dev. 2018 06; 151:10-17.
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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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Pearring JN, San Agustin JT, Lobanova ES, Gabriel CJ, Lieu EC, Monis WJ, Stuck MW, Strittmatter L, Jaber SM, Arshavsky VY, Pazour GJ. Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. PLoS Genet. 2017 04; 13(4):e1006740.
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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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San Agustin JT, Klena N, Granath K, Panigrahy A, Stewart E, Devine W, Strittmatter L, Jonassen JA, Liu X, Lo CW, Pazour GJ. Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016 Mar 22; 7:11103.
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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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Jonassen JA, SanAgustin J, Baker SP, Pazour GJ. Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation. J Am Soc Nephrol. 2012 Apr; 23(4):641-51.