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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28.
Am J Hum Genet. 2021.
PMID: 33513338
Free PMC article.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C.
Fliedner A, et al. Among authors: horist b.
Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29.
Am J Hum Genet. 2020.
PMID: 32730804
Free PMC article.
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Targeting calpain-2-mediated junctophilin-2 cleavage delays heart failure progression following myocardial infarction.
Lahiri SK, Lu J, Aguilar-Sanchez Y, Li H, Moreira LM, Hulsurkar MM, Mendoza A, Turkieltaub Paredes MR, Navarro-Garcia JA, Munivez E, Horist B, Moore OM, Weninger G, Brandenburg S, Lenz C, Lehnart SE, Sayeed R, Krasopoulos G, Srivastava V, Zhang L, Karch JM, Reilly S, Wehrens XHT.
Lahiri SK, et al. Among authors: horist b.
J Mol Cell Cardiol. 2024 Sep;194:85-95. doi: 10.1016/j.yjmcc.2024.06.011. Epub 2024 Jul 2.
J Mol Cell Cardiol. 2024.
PMID: 38960317
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