Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Autor: Grace J. Noh, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lisa Ohden, Joshua L. Deignan, Jane Juusola, Naghmeh Dorrani, Katherine Agre, Anne Gregor, Vidya Krishnamurthy, Arif B. Ekici, Julian A. Martinez-Agosto, Vimla Aggarwal, T. Niroshi Senaratne, Seema R. Lalani, Antje Wiesener, Stella A. de Man, Mahshid S. Azamian, Marina S. Dutra-Clarke, Jill A. Rosenfeld, Ahna M. Neustadt, Daryl A. Scott, Brent L. Fogel, Stanley F. Nelson, Ghayda M. Mirzaa, Irma van de Beek, Kirsty McWalter, Wayne W. Grody, Rachel Straussberg, Ralitza H. Gavrilova, Hane Lee, Anna Fliedner, Quinten Waisfisz, Mieke M. van Haelst, Jessica Kianmahd, Fabiola Quintero-Rivera, Marina Dutra-Clarke, Rony Cohen, Laura Davis-Keppen, Anna Alkelai, Christiane Zweier, Fan Xia, Brooke Horist, Philipp Kirchner, Sung-Hae Kang, Franceska L. Hinkamp, Natalie Lippa, Valerie A. Arboleda

Publikováno v: Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, D A, Lalani, S R, Rosenfeld, J A, Azamian, M S, Xia, F, Dutra-Clarke, M, Martinez-Agosto, J A, Lee, H, Noh, G J, Lippa, N, Alkelai, A, Aggarwal, V, Agre, K E, Gavrilova, R, Mirzaa, G M, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, M, de Man, S A, Ekici, A B, Gregor, A, van de Laar, I, Zweier, C & UCLA Clinical Genomics Center 2020, ' Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing ', American journal of human genetics, vol. 107, no. 3, pp. 544-554 . https://doi.org/10.1016/j.ajhg.2020.06.019
American journal of human genetics, 107(3), 544-554. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107(3), 544-554. Cell Press

RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4), which is important for correct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9417770654c6a8fcc91fcdc725972c10
https://research.vumc.nl/en/publications/f7f8dc41-7e52-465b-b68c-c1218ff2d478