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Page 1
Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
Shuen AY, Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, Farah R, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Mason W, Mordechai O, Mushtaq N, Nicholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Samuel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, Van Damme A, Lee YY, Zapotocky M, Bouffet E, Durno C, Aronson M, Gallinger S, Foulkes WD, Malkin D, Tabori U, Pearson CE. Shuen AY, et al. Among authors: lanni s. J Clin Oncol. 2019 Feb 20;37(6):461-470. doi: 10.1200/JCO.18.00474. Epub 2019 Jan 4. J Clin Oncol. 2019. PMID: 30608896
Molecular genetics of congenital myotonic dystrophy.
Lanni S, Pearson CE. Lanni S, et al. Neurobiol Dis. 2019 Dec;132:104533. doi: 10.1016/j.nbd.2019.104533. Epub 2019 Jul 19. Neurobiol Dis. 2019. PMID: 31326502 Free article. Review.
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL, Porro A, Mohiuddin M, Lanni S, Panigrahi GB, Caron MC, Masson JY, Sartori AA, Pearson CE. Deshmukh AL, et al. Among authors: lanni s. J Huntingtons Dis. 2021;10(1):95-122. doi: 10.3233/JHD-200448. J Huntingtons Dis. 2021. PMID: 33579867 Free PMC article. Review.
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.
Nakamori M, Panigrahi GB, Lanni S, Gall-Duncan T, Hayakawa H, Tanaka H, Luo J, Otabe T, Li J, Sakata A, Caron MC, Joshi N, Prasolava T, Chiang K, Masson JY, Wold MS, Wang X, Lee MYWT, Huddleston J, Munson KM, Davidson S, Layeghifard M, Edward LM, Gallon R, Santibanez-Koref M, Murata A, Takahashi MP, Eichler EE, Shlien A, Nakatani K, Mochizuki H, Pearson CE. Nakamori M, et al. Among authors: lanni s. Nat Genet. 2020 Feb;52(2):146-159. doi: 10.1038/s41588-019-0575-8. Epub 2020 Feb 14. Nat Genet. 2020. PMID: 32060489 Free PMC article.
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, Leib DE, Chen R, Tanaka H, Mason AG, Lévesque D, Khan M, Razzaghi M, Prasolava T, Lanni S, Sato N, Caron MC, Panigrahi GB, Wang P, Lau R, Castel AL, Masson JY, Tippett L, Turner C, Spies M, La Spada AR, Campos EI, Curtis MA, Boisvert FM, Faull RLM, Davidson BL, Nakamori M, Okazawa H, Wold MS, Pearson CE. Gall-Duncan T, et al. Among authors: lanni s. Cell. 2023 Oct 26;186(22):4898-4919.e25. doi: 10.1016/j.cell.2023.09.008. Epub 2023 Oct 11. Cell. 2023. PMID: 37827155 Free PMC article.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. Barbé L, et al. Among authors: lanni s. Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033. Am J Hum Genet. 2017. PMID: 28257691 Free PMC article.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.
Nobile V, Palumbo F, Lanni S, Ghisio V, Vitali A, Castagnola M, Marzano V, Maulucci G, De Angelis C, De Spirito M, Pacini L, D'Andrea L, Ragno R, Stazi G, Valente S, Mai A, Chiurazzi P, Genuardi M, Neri G, Tabolacci E. Nobile V, et al. Among authors: lanni s. Hum Genet. 2020 Feb;139(2):227-245. doi: 10.1007/s00439-019-02104-7. Epub 2020 Jan 9. Hum Genet. 2020. PMID: 31919630
Defining the role of the CGGBP1 protein in FMR1 gene expression.
Goracci M, Lanni S, Mancano G, Palumbo F, Chiurazzi P, Neri G, Tabolacci E. Goracci M, et al. Among authors: lanni s. Eur J Hum Genet. 2016 May;24(5):697-703. doi: 10.1038/ejhg.2015.182. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306647 Free PMC article.
Role of CTCF protein in regulating FMR1 locus transcription.
Lanni S, Goracci M, Borrelli L, Mancano G, Chiurazzi P, Moscato U, Ferrè F, Helmer-Citterich M, Tabolacci E, Neri G. Lanni S, et al. PLoS Genet. 2013;9(7):e1003601. doi: 10.1371/journal.pgen.1003601. Epub 2013 Jul 18. PLoS Genet. 2013. PMID: 23874213 Free PMC article.
72 results