Ciliopathies: Genetic Disorders Involving Primary Cilia

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Bai, K., Lynch, N. B., & Carpenter, C. P. (2024). Prostatic cyst in autosomal recessive polycystic kidney disease: A case presentation and literature review. Urology Case Reports, 57, 102881. https://doi.org/10.1016/j.eucr.2024.102881
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Elaimy, A. L., El-Derany, M. O., James, J., Wang, Z., Pearson, A. N., Holcomb, E. A., Huber, A. K., Gijón, M., Bell, H. N., Sanghvi, V. R., Frankel, T. L., Su, G. L., Tapper, E. B., Tai, A. W., Ramnath, N., Centonze, C. P., Dobrosotskaya, I., Moeller, J. A., Bryant, A. K., … Green, M. D. (2024). SLC4A11 mediates ammonia import and promotes cancer stemness in hepatocellular carcinoma. JCI Insight, 9(21). https://doi.org/10.1172/jci.insight.184826
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Zeiler, A. I., Kaplan, S., Salazar-De Simone, G., Shawber, C. J., & Wu, J. K. (2024). 78. Hepatic Vascular Lesions: A New Entity In Vascular Anomalies. Plastic and Reconstructive Surgery - Global Open, 12(S4), 52–53. https://doi.org/10.1097/01.gox.0001015404.47726.df
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Duret, L. C., Hamidouche, T., Steers, N. J., Pons, C., Soubeiran, N., Buret, D., Gilson, E., Gharavi, A. G., D’Agati, V. D., & Shkreli, M. (2024). Targeting WIP1 phosphatase promotes partial remission in experimental collapsing glomerulopathy. Kidney International, 105(5), 980–996. https://doi.org/10.1016/j.kint.2024.02.009
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Richter, F., Rutherford, K. D., Cooke, A. J., Meshkati, M., Eddy-Abrams, V., Greene, D., Kosowsky, J., Park, Y., Aggarwal, S., Burke, R. J., Chang, W., Connors, J., Giannone, P. J., Hays, T., Khattar, D., Polak, M., Senaldi, L., Smith-Raska, M., Sridhar, S., … Turro, E. (2024). A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. American Journal of Kidney Diseases, 83(6), 829–833. https://doi.org/10.1053/j.ajkd.2023.12.011
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Kong, X.-F., Bogyo, K., Kapoor, S., Shea, P. R., Groopman, E. E., Thomas-Wilson, A., Cocchi, E., Milo Rasouly, H., Zheng, B., Sun, S., Zhang, J., Martinez, M., Vittorio, J. M., Dove, L. M., Marasa, M., Wang, T. C., Verna, E. C., Worman, H. J., Gharavi, A. G., … Wattacheril, J. (2023). The diagnostic yield of exome sequencing in liver diseases from a curated gene panel. Scientific Reports, 13(1). https://doi.org/10.1038/s41598-023-42202-1
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Sethi, S., Beck, L. H., Glassock, R. J., Haas, M., De Vriese, A. S., Caza, T. N., Hoxha, E., Lambeau, G., Tomas, N. M., Madden, B., Debiec, H., D’Agati, V. D., Alexander, M. P., Amer, H., Appel, G. B., Barbour, S. J., Caravaca-Fontan, F., Cattran, D. C., Casal Moura, M., … Fervenza, F. C. (2023). Mayo Clinic consensus report on membranous nephropathy: proposal for a novel classification. Kidney International, 104(6), 1092–1102. https://doi.org/10.1016/j.kint.2023.06.032
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Serra, C. F. H., Liu, H., Qian, J., Mori, M., Lu, J., & Cardoso, W. V. (2022). Prominin 1 and Notch regulate ciliary length and dynamics in multiciliated cells of the airway epithelium. IScience, 25(8), 104751. https://doi.org/10.1016/j.isci.2022.104751
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Aguiar, T., Teixeira, A., Scliar, M. O., Sobral de Barros, J., Lemes, R. B., Souza, S., Tolezano, G., Santos, F., Tojal, I., Cypriano, M., Caminada de Toledo, S. R., Valadares, E., Borges Pinto, R., Pinto Artigalas, O. A., Caetano de Aguirre Neto, J., Novak, E., Cristofani, L. M., Miura Sugayama, S. M., Odone, V., … Krepischi, A. (2022). Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes. Frontiers in Genetics, 13. https://doi.org/10.3389/fgene.2022.858396
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