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2020 2
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14 results

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Page 1
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.
Kornienko J, Rodríguez-Martínez M, Fenzl K, Hinze F, Schraivogel D, Grosch M, Tunaj B, Lindenhofer D, Schraft L, Kueblbeck M, Smith E, Mao C, Brown E, Owens A, Saguner AM, Meder B, Parikh V, Gotthardt M, Steinmetz LM. Kornienko J, et al. Nat Commun. 2023 Jul 18;14(1):4312. doi: 10.1038/s41467-023-39965-6. Nat Commun. 2023. PMID: 37463913 Free PMC article.
Epistasis regulates genetic control of cardiac hypertrophy.
Wang Q, Tang TM, Youlton N, Weldy CS, Kenney AM, Ronen O, Hughes JW, Chin ET, Sutton SC, Agarwal A, Li X, Behr M, Kumbier K, Moravec CS, Tang WHW, Margulies KB, Cappola TP, Butte AJ, Arnaout R, Brown JB, Priest JR, Parikh VN, Yu B, Ashley EA. Wang Q, et al. Res Sq [Preprint]. 2023 Nov 20:rs.3.rs-3509208. doi: 10.21203/rs.3.rs-3509208/v1. Res Sq. 2023. PMID: 38045390 Free PMC article. Preprint.
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.
Floyd BJ, Weile J, Kannankeril PJ, Glazer AM, Reuter CM, MacRae CA, Ashley EA, Roden DM, Roth FP, Parikh VN. Floyd BJ, et al. Circ Genom Precis Med. 2023 Feb;16(1):e003792. doi: 10.1161/CIRCGEN.122.003792. Epub 2023 Jan 30. Circ Genom Precis Med. 2023. PMID: 36716194 Free PMC article. Review. No abstract available.
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension.
Tai YY, Yu Q, Tang Y, Sun W, Kelly NJ, Okawa S, Zhao J, Schwantes-An TH, Lacoux C, Torrino S, Al Aaraj Y, El Khoury W, Negi V, Liu M, Corey CG, Belmonte F, Vargas SO, Schwartz B, Bhat B, Chau BN, Karnes JH, Satoh T, Barndt RJ, Wu H, Parikh VN, Wang J, Zhang Y, McNamara D, Li G, Speyer G, Wang B, Shiva S, Kaufman B, Kim S, Gomez D, Mari B, Cho MH, Boueiz A, Pauciulo MW, Southgate L, Trembath RC, Sitbon O, Humbert M, Graf S, Morrell NW, Rhodes CJ, Wilkins MR, Nouraie M, Nichols WC, Desai AA, Bertero T, Chan SY. Tai YY, et al. Sci Transl Med. 2024 Jan 10;16(729):eadd2029. doi: 10.1126/scitranslmed.add2029. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198571 Free PMC article.
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Claussnitzer M, et al. ArXiv [Preprint]. 2023 Jun 26:arXiv:2306.15113v1. ArXiv. 2023. Update in: Genome Biol. 2024 Apr 19;25(1):100. doi: 10.1186/s13059-024-03223-9 PMID: 37426450 Free PMC article. Updated. Preprint.
One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy.
Kim DS, Chu EL, Keamy-Minor EE, Paranjpe ID, Tang WL, O'Sullivan JW, Desai YB, Liu MB, Munsey E, Hecker K, Cuenco I, Kao B, Bacolor E, Bonnett C, Linder A, Lacar K, Robles N, Lamendola C, Smith A, Knowles JW, Perez MV, Kawana M, Sallam KI, Weldy CS, Wheeler MT, Parikh VN, Salisbury H, Ashley EA; Stanford Center for Inherited Cardiovascular Disease. Kim DS, et al. Front Cardiovasc Med. 2024 Aug 30;11:1429230. doi: 10.3389/fcvm.2024.1429230. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 39314763 Free PMC article.
Patient-Specific Induced Pluripotent Stem Cells Implicate Intrinsic Impaired Contractility in Hypoplastic Left Heart Syndrome.
Paige SL, Galdos FX, Lee S, Chin ET, Ranjbarvaziri S, Feyen DAM, Darsha AK, Xu S, Ryan JA, Beck AL, Qureshi MY, Miao Y, Gu M, Bernstein D, Nelson TJ, Mercola M, Rabinovitch M, Ashley EA, Parikh VN, Wu SM. Paige SL, et al. Circulation. 2020 Oct 20;142(16):1605-1608. doi: 10.1161/CIRCULATIONAHA.119.045317. Epub 2020 Oct 19. Circulation. 2020. PMID: 33074758 Free PMC article. No abstract available.
Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy.
De Jong HN, Dewey FE, Cordero P, Victorio RA, Kirillova A, Huang Y, Madhvani R, Seo K, Werdich AA, Lan F, Orcholski M, Liu WR, Erbilgin A, Wheeler MT, Chen R, Pan S, Kim YM, Bommakanti K, Marcou CA, Bos JM, Haddad F, Ackerman M, Vasan RS, MacRae C, Wu JC, de Jesus Perez V, Snyder M, Parikh VN, Ashley EA. De Jong HN, et al. Circ Genom Precis Med. 2022 Aug;15(4):e003563. doi: 10.1161/CIRCGEN.121.003563. Epub 2022 Jun 7. Circ Genom Precis Med. 2022. PMID: 35671065 Free PMC article.
14 results