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PubMed (GeneRIF) for id: 27316

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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Annerén G, Wilbe M, Bondeson ML. Johansson J, et al. Eur J Hum Genet. 2024 Mar;32(3):333-341. doi: 10.1038/s41431-023-01392-y. Epub 2023 Jun 5. Eur J Hum Genet. 2024. PMID: 37277488 Free PMC article.
Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
Prieto C, Nguyen DTT, Liu Z, Wheat J, Perez A, Gourkanti S, Chou T, Barin E, Velleca A, Rohwetter T, Chow A, Taggart J, Savino AM, Hoskova K, Dhodapkar M, Schurer A, Barlowe TS, Vu LP, Leslie C, Steidl U, Rabadan R, Kharas MG. Prieto C, et al. Nat Cancer. 2021 Jul;2:741-757. doi: 10.1038/s43018-021-00220-w. Epub 2021 Jul 5. Nat Cancer. 2021. PMID: 34458856 Free PMC article.
25 results