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Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA.
Guallar JP, Vilà MR, López-Gallardo E, Solano A, Domingo JC, Gámez J, Pineda M, Capablo JL, Domingo P, Andreu AL, Montoya J, Giralt M, Villarroya F. Guallar JP, et al. Among authors: andreu al. Mol Genet Metab. 2006 Nov;89(3):283-5. doi: 10.1016/j.ymgme.2006.03.001. Epub 2006 Apr 17. Mol Genet Metab. 2006. PMID: 16603396
'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.
Pacheu-Grau D, Gómez-Durán A, López-Gallardo E, Pinós T, Andreu AL, López-Pérez MJ, Montoya J, Ruiz-Pesini E. Pacheu-Grau D, et al. Among authors: andreu al. Hum Mol Genet. 2011 Nov 1;20(21):4224-31. doi: 10.1093/hmg/ddr350. Epub 2011 Aug 9. Hum Mol Genet. 2011. PMID: 21828074
Mitochondrial DNA abnormalities and autistic spectrum disorders.
Pons R, Andreu AL, Checcarelli N, Vilà MR, Engelstad K, Sue CM, Shungu D, Haggerty R, de Vivo DC, DiMauro S. Pons R, et al. J Pediatr. 2004 Jan;144(1):81-5. doi: 10.1016/j.jpeds.2003.10.023. J Pediatr. 2004. PMID: 14722523
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: andreu al. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.
364 results