Molecular Mechanisms of Kidney Development and Disease

Displaying 1 - 23 of 23CSV
Bertulfo, K., Perez-Duran, P., Miller, H., Ma, C., Ambesi-Impiombato, A., Samon, J., Mackey, A., Lin, W.-H. W., Ferrando, A. A., & Palomero, T. (2025). Therapeutic targeting of the NOTCH1 and neddylation pathways in T cell acute lymphoblastic leukemia. Proceedings of the National Academy of Sciences, 122(14). https://doi.org/10.1073/pnas.2426742122
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Ohata, Y., Ali, M. M., Tsubakihara, Y., Itoh, Y., Rosén, G., Bergström, T., Morén, A., Golán-Cancela, I., Nakada, A., Voytyuk, O., Tsuchiya, M., Fukui, R., Yamamoto, K., Martín-Rubio, P., Sancho, P., Strell, C., Micke, P., Wechsler-Reya, R. J., Hashizume, Y., … Moustakas, A. (2025). The transcription factor LHX2 mediates and enhances oncogenic BMP signaling in medulloblastoma. Cell Death & Differentiation. https://doi.org/10.1038/s41418-025-01488-6
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Al-Marsoummi, S., Singhal, S., Garrett, S. H., Somji, S., Sens, D. A., & Singhal, S. K. (2025). CD133+CD24+ Renal Tubular Progenitor Cells Drive Hypoxic Injury Recovery via Hypoxia-Inducible Factor-1A and Epidermal Growth Factor Receptor Expression. International Journal of Molecular Sciences, 26(6), 2472. https://doi.org/10.3390/ijms26062472
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Pallauf, M., Rezaee, M., Elias, R., Wlajnitz, T., Fletcher, S. A., Cheaib, J., Alkhatib, K., Chang, P., Wagner, A. A., McKiernan, J. M., Allaf, M. E., Pierorazio, P. M., & Singla, N. (2025). Tumour size is associated with growth rates of >0.5 cm/year and delayed intervention in small renal masses in patients on active surveillance. BJU International. Portico. https://doi.org/10.1111/bju.16651
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Schmidt, I. M., Surapaneni, A. L., Zhao, R., Upadhyay, D., Yeo, W.-J., Schlosser, P., Huynh, C., Srivastava, A., Palsson, R., Kim, T., Stillman, I. E., Barwinska, D., Barasch, J., Eadon, M. T., El-Achkar, T. M., Henderson, J., Moledina, D. G., Rosas, S. E., Claudel, S. E., … Waikar, S. S. (2024). Plasma proteomics of acute tubular injury. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-51304-x
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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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Brar, B. K., Blakemore, K., Hertenstein, C., Miller, J. L., Miller, K. A., Shamseldin, H., Maddirevula, S., Hays, T., Lianoglou, B., Dukhovny, S., Baker, L. A., Sparks, T. N., Wapner, R., Alkuraya, F. S., Norton, M. E., & Jelin, A. C. (2023). The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction. Prenatal Diagnosis, 44(2), 196–204. Portico. https://doi.org/10.1002/pd.6425
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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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Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T. Y., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J. L., Saraga, M., Saraga-Babic, M., Westland, R., Bodria, M., Piaggio, G., Bendapudi, P. K., … Sanna-Cherchi, S. (2023). Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Genetics in Medicine, 25(12), 100983. https://doi.org/10.1016/j.gim.2023.100983
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Rajbhandari, N., Hamilton, M., Quintero, C. M., Ferguson, L. P., Fox, R., Schürch, C. M., Wang, J., Nakamura, M., Lytle, N. K., McDermott, M., Diaz, E., Pettit, H., Kritzik, M., Han, H., Cridebring, D., Wen, K. W., Tsai, S., Goggins, M. G., Lowy, A. M., … Reya, T. (2023). Single-cell mapping identifies MSI+ cells as a common origin for diverse subtypes of pancreatic cancer. Cancer Cell, 41(11), 1989-2005.e9. https://doi.org/10.1016/j.ccell.2023.09.008
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Miura, A., Sarmah, H., Tanaka, J., Hwang, Y., Sawada, A., Shimamura, Y., Otoshi, T., Kondo, Y., Fang, Y., Shimizu, D., Ninish, Z., Suer, J. L., Dubois, N. C., Davis, J., Toyooka, S., Wu, J., Que, J., Hawkins, F. J., Lin, C.-S., & Mori, M. (2023). Conditional blastocyst complementation of a defective Foxa2 lineage efficiently promotes the generation of the whole lung. ELife, 12. CLOCKSS. https://doi.org/10.7554/elife.86105
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Alam, R., Yerrapragada, A., Wlajnitz, T., Watts, E., Pallauf, M., Enikeev, D., Chang, P., Wagner, A. A., McKiernan, J. M., Pierorazio, P. M., Allaf, M. E., & Singla, N. (2023). Evaluation of Growth Rates for Small Renal Masses in Elderly Patients Undergoing Active Surveillance. European Urology Open Science, 50, 78–84. https://doi.org/10.1016/j.euros.2023.02.004
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Coutinho, D. F., Mundi, P. S., Marks, L. J., Burke, C., Ortiz, M. V., Diolaiti, D., Bird, L., Vallance, K. L., Ibáñez, G., You, D., Long, M., Rosales, N., Grunn, A., Ndengu, A., Siddiquee, A., Gaviria, E. S., Rainey, A. R., Fazlollahi, L., Hosoi, H., … Dela Cruz, F. S. (2022). Validation of a non-oncogene encoded vulnerability to exportin 1 inhibition in pediatric renal tumors. Med, 3(11), 774-791.e7. https://doi.org/10.1016/j.medj.2022.09.002
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Jain, N. G., Ahram, D. F., Marasa, M., Rehman, A. U., May, H. J., Zacharoulis, S., Revah-Politi, A., Florido, M. E., Whittemore, G. B., Aggarwal, V. S., Hargus, G., Anyane-Yeboa, K., D’Agati, V. D., Lin, F., Jobanputra, V., & Sanna-Cherchi, S. (2022). Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies. Kidney International Reports, 7(10), 2312–2316. https://doi.org/10.1016/j.ekir.2022.07.174
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Wang, S.-H., Hao, J., Zhang, C., Duan, F.-F., Chiu, Y.-T., Shi, M., Huang, X., Yang, J., Cao, H., & Wang, Y. (2022). KLF17 promotes human naive pluripotency through repressing MAPK3 and ZIC2. Science China Life Sciences, 65(10), 1985–1997. https://doi.org/10.1007/s11427-021-2076-x
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Hays, T., Thompson, M. V., Bateman, D. A., Sahni, R., Tolia, V. N., Clark, R. H., & Gharavi, A. G. (2022). The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants. JAMA Network Open, 5(9), e2231626. https://doi.org/10.1001/jamanetworkopen.2022.31626
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Rubens, J. A., Erker, C., Lindsay, H., Ho, B., Li, B., Bouffet, E., Cohen, A., Eberhart, C., Ertl-Wagner, B., Mahajan, A., Zacharoulis, S., Huang, A., & Packer, R. (2022). Infantile suprasellar tumor diagnosed as a pineoblastoma RB1 subgroup and treatment challenges: A pediatric SNO Molecular Tumor Board. Neuro-Oncology Advances, 4(1). https://doi.org/10.1093/noajnl/vdac092
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Cason, R. K., Williams, A., Chryst-Stangl, M., Wu, G., Huggins, K., Brathwaite, K. E., Lane, B. M., Greenbaum, L. A., D’Agati, V. D., & Gbadegesin, R. A. (2022). Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations. Frontiers in Pediatrics, 10. https://doi.org/10.3389/fped.2022.915174
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Park, K. W., Yang, H., Wi, H., Ock, S. A., Lee, P., Hwang, I.-S., & Lee, B. R. (2022). Effect of Wnt signaling pathway activation on the efficient generation of bovine intestinal organoids. Journal of Animal Reproduction and Biotechnology, 37(2), 136–143. https://doi.org/10.12750/jarb.37.2.136
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Tourigny, D. S., Zucker, M., Kim, M., Russo, P., Coleman, J., Lee, C.-H., Carlo, M. I., Chen, Y.-B., Hakimi, A. A., Kotecha, R. R., & Reznik, E. (2022). Molecular Characterization of the Tumor Microenvironment in Renal Medullary Carcinoma. Frontiers in Oncology, 12. https://doi.org/10.3389/fonc.2022.910147
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Köttgen, A., Cornec-Le Gall, E., Halbritter, J., Kiryluk, K., Mallett, A. J., Parekh, R. S., Rasouly, H. M., Sampson, M. G., Tin, A., Antignac, C., Ars, E., Bergmann, C., Bleyer, A. J., Bockenhauer, D., Devuyst, O., Florez, J. C., Fowler, K. J., Franceschini, N., Fukagawa, M., … Gharavi, A. G. (2022). Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 101(6), 1126–1141. https://doi.org/10.1016/j.kint.2022.03.019
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