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X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Volpatti JR, Ghahramani-Seno MM, Mansat M, Sabha N, Sarikaya E, Goodman SJ, Chater-Diehl E, Celik A, Pannia E, Froment C, Combes-Soia L, Maani N, Yuki KE, Chicanne G, Uusküla-Reimand L, Monis S, Alvi SA, Genetti CA, Payrastre B, Beggs AH, Bonnemann CG, Muntoni F, Wilson MD, Weksberg R, Viaud J, Dowling JJ. Volpatti JR, et al. Among authors: pannia e. Acta Neuropathol. 2022 Sep;144(3):537-563. doi: 10.1007/s00401-022-02468-7. Epub 2022 Jul 17. Acta Neuropathol. 2022. PMID: 35844027 Free PMC article.
Natural history of a mouse model of X-linked myotubular myopathy.
Sarikaya E, Sabha N, Volpatti J, Pannia E, Maani N, Gonorazky HD, Celik A, Liang Y, Onofre-Oliveira P, Dowling JJ. Sarikaya E, et al. Among authors: pannia e. Dis Model Mech. 2022 Jul 1;15(7):dmm049342. doi: 10.1242/dmm.049342. Epub 2022 Jul 25. Dis Model Mech. 2022. PMID: 35694952 Free PMC article.
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.
Simonian R, Pannia E, Hammoud R, Noche RR, Cui X, Kranenburg E, Kubant R, Ashcraft P, Wasek B, Bottiglieri T, Dowling JJ, Anderson GH. Simonian R, et al. Among authors: pannia e. Hum Mol Genet. 2023 Apr 20;32(9):1575-1588. doi: 10.1093/hmg/ddac308. Hum Mol Genet. 2023. PMID: 36637428 Free PMC article.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. Priestley JRC, et al. Among authors: pannia e. Genet Med. 2023 Aug;25(8):100863. doi: 10.1016/j.gim.2023.100863. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37125634
A gestational diet high in fat-soluble vitamins alters expression of genes in brain pathways and reduces sucrose preference, but not food intake, in Wistar male rat offspring.
Sanchez-Hernandez D, Poon AN, Kubant R, Kim H, Huot PS, Cho CE, Pannia E, Pausova Z, Anderson GH. Sanchez-Hernandez D, et al. Among authors: pannia e. Appl Physiol Nutr Metab. 2015 Apr;40(4):424-31. doi: 10.1139/apnm-2014-0480. Epub 2015 Mar 19. Appl Physiol Nutr Metab. 2015. PMID: 25787712 Free article.
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