Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

Clark–Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the TRIP12 (Thyroid Hormone Receptor Interactor 12) gene. TRIP12 encodes an E3 ligase in the ubiquitin pathway. The ubiquitin pathway includes activating E1, conjugating E2 and lig...

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Autores principales: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L., Vissers, Lisenka E. L. M., Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J. V., Wieczorek, Dagmar, Bramswig, Nuria C., Herget, Theresia, González, Vanesa López, Santos-Simarro, Fernando, Tørring, Pernille M., Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, Van Esch, Hilde, Mannens, Marcel M. A. M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690904/
https://www.ncbi.nlm.nih.gov/pubmed/36430143
http://dx.doi.org/10.3390/ijms232213664

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