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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: kontaridis mi. 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.
Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways.
Kontaridis MI, Yang W, Bence KK, Cullen D, Wang B, Bodyak N, Ke Q, Hinek A, Kang PM, Liao R, Neel BG. Kontaridis MI, et al. Circulation. 2008 Mar 18;117(11):1423-35. doi: 10.1161/CIRCULATIONAHA.107.728865. Epub 2008 Mar 3. Circulation. 2008. PMID: 18316486 Free PMC article.
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
Hahn A, Lauriol J, Thul J, Behnke-Hall K, Logeswaran T, Schänzer A, Böğürcü N, Garvalov BK, Zenker M, Gelb BD, von Gerlach S, Kandolf R, Kontaridis MI, Schranz D. Hahn A, et al. Among authors: kontaridis mi. Am J Med Genet A. 2015 Apr;167A(4):744-51. doi: 10.1002/ajmg.a.36982. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708222 Free PMC article.
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.
Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L. Korf B, et al. Am J Med Genet A. 2015 Aug;167A(8):1741-6. doi: 10.1002/ajmg.a.37089. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900621 Free PMC article.
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: kontaridis mi. 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.
45 results