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Page 1
Functional analysis of DES-p.L398P and RBM20-p.R636C.
Brodehl A, Ebbinghaus H, Gaertner-Rommel A, Stanasiuk C, Klauke B, Milting H. Brodehl A, et al. Genet Med. 2019 May;21(5):1246-1247. doi: 10.1038/s41436-018-0291-2. Epub 2018 Sep 28. Genet Med. 2019. PMID: 30262925 Free article. No abstract available.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
Dysregulated ribonucleoprotein granules promote cardiomyopathy in RBM20 gene-edited pigs.
Schneider JW, Oommen S, Qureshi MY, Goetsch SC, Pease DR, Sundsbak RS, Guo W, Sun M, Sun H, Kuroyanagi H, Webster DA, Coutts AW, Holst KA, Edwards BS, Newville N, Hathcock MA, Melkamu T, Briganti F, Wei W, Romanelli MG, Fahrenkrug SC, Frantz DE, Olson TM, Steinmetz LM, Carlson DF, Nelson TJ; Wanek Program Preclinical Pipeline. Schneider JW, et al. Nat Med. 2020 Nov;26(11):1788-1800. doi: 10.1038/s41591-020-1087-x. Epub 2020 Nov 13. Nat Med. 2020. PMID: 33188278 Free PMC article.
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
Fenix AM, Miyaoka Y, Bertero A, Blue SM, Spindler MJ, Tan KKB, Perez-Bermejo JA, Chan AH, Mayerl SJ, Nguyen TD, Russell CR, Lizarraga PP, Truong A, So PL, Kulkarni A, Chetal K, Sathe S, Sniadecki NJ, Yeo GW, Murry CE, Conklin BR, Salomonis N. Fenix AM, et al. Nat Commun. 2021 Nov 3;12(1):6324. doi: 10.1038/s41467-021-26623-y. Nat Commun. 2021. PMID: 34732726 Free PMC article.