Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

Autor: Morimoto, Marie, Ryu, Eunjin, Steger, Benjamin J., Dixit, Abhijit, Saito, Yoshihiko, Yoo, Juyeong, van der Ven, Amelie T., Hauser, Natalie, Steinbach, Peter J., Oura, Kazumasa, Huang, Alden Y., Kortüm, Fanny, Ninomiya, Shinsuke, Rosenthal, Elisabeth A., Robinson, Hannah K., Guegan, Katie, Denecke, Jonas, Subramony, Sankarasubramoney H., Diamonstein, Callie J., Ping, Jie, Fenner, Mark, Balton, Elsa V., Strohbehn, Sam, Allworth, Aimee, Bamshad, Michael J., Gandhi, Mahi, Dipple, Katrina M., Blue, Elizabeth E., Jarvik, Gail P., Lau, C. Christopher, Holm, Ingrid A., Weisz-Hubshman, Monika, Solomon, Benjamin D., Nelson, Stanley F., Nishino, Ichizo, Adams, David R., Kang, Sukhyun, Gahl, William A., Toro, Camilo, Myung, Kyungjae, Malicdan, May Christine V.

Publikováno v: In The American Journal of Human Genetics 5 September 2024 111(9):1970-1993

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ATAD5 functions as a regulatory platform for Ub-PCNA deubiquitination.

Autor: Ryu E; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea.; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea., Yoo J; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea.; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea., Kang MS; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea., Ha NY; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea., Jang Y; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea.; Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea., Kim J; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea., Kim Y; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea.; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea., Kim BG; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea., Kim S; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea., Myung K; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea.; Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea., Kang S; Center for Genomic Integrity, Institute for Basic Science, Ulsan 44919, Republic of Korea.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Aug 20; Vol. 121 (34), pp. e2315759121. Date of Electronic Publication: 2024 Aug 15.