Biology and Pathology of Keratins and Related Disorders

Displaying 1 - 8 of 8CSV
Sattar, S., Bharadwaj, T., Kalsoom, U.-, Acharya, A., Khan, S., Leal, S. M., & Schrauwen, I. (2025). A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa. BMC Medical Genomics, 18(1). https://doi.org/10.1186/s12920-024-02077-1
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Korytnikova, E., & Halasz, C. L. (2025). Chronic nonscarring scalp folliculitis responding to topical phosphodiesterase-4 inhibitor roflumilast. JAAD Case Reports, 55, 94–96. https://doi.org/10.1016/j.jdcr.2024.11.009
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Balasubramanian, R., Kizhatil, K., Li, T., Tolman, N., Bhandari, A., Clark, G., Bupp-Chickering, V., Kelly, R. A., Zhou, S., Peregrin, J., Simón, M., Montgomery, C., Stamer, W. D., Qian, J., & John, S. W. (2024). Transcriptomic profiling of Schlemm’s canal cells reveals a lymphatic-biased identity and three major cell states. ELife, 13. CLOCKSS. https://doi.org/10.7554/elife.96459.3
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Balasubramanian, R., Kizhatil, K., Li, T., Tolman, N., Bhandari, A., Clark, G., Bupp-Chickering, V., Kelly, R. A., Zhou, S., Peregrin, J., Simón, M., Montgomery, C., Stamer, W. D., Qian, J., & John, S. W. (2024). Transcriptomic profiling of Schlemm’s canal cells reveals a lymphatic-biased identity and three major cell states. ELife, 13. CLOCKSS. https://doi.org/10.7554/elife.96459
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Shen, Y., Chen, A., Wang, W., Shen, Y., Ruggeri, F. S., Aime, S., Wang, Z., Qamar, S., Espinosa, J. R., Garaizar, A., St George-Hyslop, P., Collepardo-Guevara, R., Weitz, D. A., Vigolo, D., & Knowles, T. P. J. (2023). The liquid-to-solid transition of FUS is promoted by the condensate surface. Proceedings of the National Academy of Sciences, 120(33). https://doi.org/10.1073/pnas.2301366120
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Shim, J., Park, J., Abudureyimu, G., Kim, M.-H., Shim, J. S., Jang, K.-T., Kwon, E. J., Jang, H.-S., Yeo, E., Lee, J. H., & Lee, D. (2022). Comparative Spatial Transcriptomic and Single-Cell Analyses of Human Nail Units and Hair Follicles Show Transcriptional Similarities between the Onychodermis and Follicular Dermal Papilla. Journal of Investigative Dermatology, 142(12), 3146-3157.e12. https://doi.org/10.1016/j.jid.2022.06.022
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Bruckner, A., Tang, J., Chung, W., Morel, K., Chen, M., Woodley, D., Keene, D., Peoples, K., Barriga, M., Carroll, J., Levin, L., Ravindran, S., Mangone, M., Ramsdell, D., & Landy, H. (2022). 295 Collagen 7 (C7) protein replacement therapy (PTR-01) durably reduces wound size and symptoms in patients with recessive dystrophic epidermolysis bullosa (RDEB). Journal of Investigative Dermatology, 142(8), S50. https://doi.org/10.1016/j.jid.2022.05.303
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