Below are the most recent publications written about "Ciliopathies" by people in Profiles.
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Francis RJB, San Agustin JT, Szabo Rogers HL, Cui C, Jonassen JA, Eguether T, Follit JA, Lo CW, Pazour GJ. Autonomous and non-cell autonomous role of cilia in structural birth defects in mice. PLoS Biol. 2023 Dec; 21(12):e3002425.
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Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, T?ys?z B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. PLoS Genet. 2023 06; 19(6):e1010796.
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Picon-Galindo E, Latz E, Wachten D. Primary cilia and their effects on immune cell functions and metabolism: a model. Trends Immunol. 2022 05; 43(5):366-378.
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Cyge B, Voronina V, Hoque M, Kim EN, Hall J, Bailey-Lundberg JM, Pazour GJ, Crawford HC, Moon RT, Li FQ, Takemaru KI. Loss of the ciliary protein Chibby1 in mice leads to exocrine pancreatic degeneration and pancreatitis. Sci Rep. 2021 08 26; 11(1):17220.
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Wiegering A, Dildrop R, Vesque C, Khanna H, Schneider-Maunoury S, Gerhardt C. Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. Mol Biol Cell. 2021 04 15; 32(8):675-689.
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Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, K?rber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 01 03; 104(1):45-54.
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Shivanna M, Anand M, Chakrabarti S, Khanna H. Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies. Curr Med Chem. 2019; 26(17):3120-3131.
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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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Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivi?re JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet. 2016 12; 90(6):509-517.
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Rao KN, Zhang W, Li L, Ronquillo C, Baehr W, Khanna H. Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Hum Mol Genet. 2016 05 15; 25(10):2005-2012.