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Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.
Wang G, McCain ML, Yang L, He A, Pasqualini FS, Agarwal A, Yuan H, Jiang D, Zhang D, Zangi L, Geva J, Roberts AE, Ma Q, Ding J, Chen J, Wang DZ, Li K, Wang J, Wanders RJ, Kulik W, Vaz FM, Laflamme MA, Murry CE, Chien KR, Kelley RI, Church GM, Parker KK, Pu WT. Wang G, et al. Among authors: roberts ae. Nat Med. 2014 Jun;20(6):616-23. doi: 10.1038/nm.3545. Epub 2014 May 11. Nat Med. 2014. PMID: 24813252 Free PMC article.
Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.
Jaffré F, Miller CL, Schänzer A, Evans T, Roberts AE, Hahn A, Kontaridis MI. Jaffré F, et al. Among authors: roberts ae. Circulation. 2019 Jul 16;140(3):207-224. doi: 10.1161/CIRCULATIONAHA.118.037227. Epub 2019 Jun 5. Circulation. 2019. PMID: 31163979 Free PMC article.
Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue.
Park SJ, Zhang D, Qi Y, Li Y, Lee KY, Bezzerides VJ, Yang P, Xia S, Kim SL, Liu X, Lu F, Pasqualini FS, Campbell PH, Geva J, Roberts AE, Kleber AG, Abrams DJ, Pu WT, Parker KK. Park SJ, et al. Among authors: roberts ae. Circulation. 2019 Jul 30;140(5):390-404. doi: 10.1161/CIRCULATIONAHA.119.039711. Epub 2019 Jul 17. Circulation. 2019. PMID: 31311300 Free PMC article.
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Morita H, et al. Among authors: roberts ae. N Engl J Med. 2008 May 1;358(18):1899-908. doi: 10.1056/NEJMoa075463. Epub 2008 Apr 9. N Engl J Med. 2008. PMID: 18403758 Free PMC article.
Dissecting spatio-temporal protein networks driving human heart development and related disorders.
Lage K, Møllgård K, Greenway S, Wakimoto H, Gorham JM, Workman CT, Bendsen E, Hansen NT, Rigina O, Roque FS, Wiese C, Christoffels VM, Roberts AE, Smoot LB, Pu WT, Donahoe PK, Tommerup N, Brunak S, Seidman CE, Seidman JG, Larsen LA. Lage K, et al. Among authors: roberts ae. Mol Syst Biol. 2010 Jun 22;6:381. doi: 10.1038/msb.2010.36. Mol Syst Biol. 2010. PMID: 20571530 Free PMC article.
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.
Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segrè AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA. Lage K, et al. Among authors: roberts ae. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14035-40. doi: 10.1073/pnas.1210730109. Epub 2012 Aug 16. Proc Natl Acad Sci U S A. 2012. PMID: 22904188 Free PMC article.
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Pierpont ME, et al. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. Circulation. 2018. PMID: 30571578 Free PMC article. Review.
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene.
Li R, Baskfield A, Lin Y, Beers J, Zou J, Liu C, Jaffré F, Roberts AE, Ottinger EA, Kontaridis MI, Zheng W. Li R, et al. Among authors: roberts ae. Stem Cell Res. 2019 Jan;34:101374. doi: 10.1016/j.scr.2018.101374. Epub 2018 Dec 26. Stem Cell Res. 2019. PMID: 30640061 Free PMC article.
194 results