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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: sabha n. 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.
Conditional knockout of pik3c3 causes a murine muscular dystrophy.
Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ. Reifler A, et al. Among authors: sabha n. Am J Pathol. 2014 Jun;184(6):1819-30. doi: 10.1016/j.ajpath.2014.02.012. Epub 2014 Apr 13. Am J Pathol. 2014. PMID: 24726497 Free PMC article.
Tamoxifen therapy in a murine model of myotubular myopathy.
Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ. Maani N, et al. Among authors: sabha n. Nat Commun. 2018 Nov 19;9(1):4849. doi: 10.1038/s41467-018-07057-5. Nat Commun. 2018. PMID: 30451841 Free PMC article.
Mouse model of severe recessive RYR1-related myopathy.
Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT. Brennan S, et al. Among authors: sabha n. Hum Mol Genet. 2019 Sep 15;28(18):3024-3036. doi: 10.1093/hmg/ddz105. Hum Mol Genet. 2019. PMID: 31107960 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: sabha n. 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.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A. Oh RY, et al. Among authors: sabha n. Genet Med. 2022 Nov;24(11):2399-2407. doi: 10.1016/j.gim.2022.07.024. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083289 Free article.
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.
Liu XY, Gerges N, Korshunov A, Sabha N, Khuong-Quang DA, Fontebasso AM, Fleming A, Hadjadj D, Schwartzentruber J, Majewski J, Dong Z, Siegel P, Albrecht S, Croul S, Jones DT, Kool M, Tonjes M, Reifenberger G, Faury D, Zadeh G, Pfister S, Jabado N. Liu XY, et al. Among authors: sabha n. Acta Neuropathol. 2012 Nov;124(5):615-25. doi: 10.1007/s00401-012-1031-3. Epub 2012 Aug 12. Acta Neuropathol. 2012. PMID: 22886134
Mechanotransduction of extracellular signal-regulated kinases 1 and 2 mitogen-activated protein kinase activity in smooth muscle is dependent on the extracellular matrix and regulated by matrix metalloproteinases.
Aitken KJ, Block G, Lorenzo A, Herz D, Sabha N, Dessouki O, Fung F, Szybowska M, Craig L, Bägli DJ. Aitken KJ, et al. Among authors: sabha n. Am J Pathol. 2006 Aug;169(2):459-70. doi: 10.2353/ajpath.2006.050969. Am J Pathol. 2006. PMID: 16877348 Free PMC article.
35 results