Search Results - "Lanni, Stella"

Molecular genetics of congenital myotonic dystrophy by Lanni, Stella, Pearson, Christopher E.

“…Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong genetic anticipation, and is caused by the expansion of a CTG repeat tract in the…”
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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy by Barbé, Lise, Lanni, Stella, López-Castel, Arturo, Franck, Silvie, Spits, Claudia, Keymolen, Kathelijn, Seneca, Sara, Tomé, Stephanie, Miron, Ioana, Letourneau, Julie, Liang, Minggao, Choufani, Sanaa, Weksberg, Rosanna, Wilson, Michael D., Sedlacek, Zdenek, Gagnon, Cynthia, Musova, Zuzana, Chitayat, David, Shannon, Patrick, Mathieu, Jean, Sermon, Karen, Pearson, Christopher E.

“…CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form,…”
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Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene by Nobile, Veronica, Palumbo, Federica, Lanni, Stella, Ghisio, Valentina, Vitali, Alberto, Castagnola, Massimo, Marzano, Valeria, Maulucci, Giuseppe, De Angelis, Claudio, De Spirito, Marco, Pacini, Laura, D’Andrea, Laura, Ragno, Rino, Stazi, Giulia, Valente, Sergio, Mai, Antonello, Chiurazzi, Pietro, Genuardi, Maurizio, Neri, Giovanni, Tabolacci, Elisabetta

“…Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5′ UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG…”
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Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue by Shuen, Andrew Y, Lanni, Stella, Panigrahi, Gagan B, Edwards, Melissa, Yu, Lisa, Campbell, Brittany B, Mandel, Ariane, Zhang, Cindy, Zhukova, Nataliya, Alharbi, Musa, Bernstein, Mark, Bowers, Daniel C, Carroll, Sara, Cole, Kristina A, Constantini, Shlomi, Crooks, Bruce, Dvir, Rina, Farah, Roula, Hijiya, Nobuko, George, Ben, Laetsch, Theodore W, Larouche, Valerie, Lindhorst, Scott, Luiten, Rebecca C, Magimairajan, Vanan, Mason, Gary, Mason, Warren, Mordechai, Oz, Mushtaq, Naureen, Nicholas, Garth, Oren, Michael, Palma, Laura, Pedroza, Luis Alberto, Ramdas, Jagadeesh, Samuel, David, Wolfe Schneider, Kami, Seeley, Andrea, Semotiuk, Kara, Shamvil, Ashraf, Sumerauer, David, Toledano, Helen, Tomboc, Patrick, Wierman, Margaret, Van Damme, An, Lee, Yi-Yen, Zapotocky, Michal, Bouffet, Eric, Durno, Carol, Aronson, Melyssa, Gallinger, Steve, Foulkes, William D, Malkin, David, Tabori, Uri, Pearson, Christopher E

“…Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR)…”
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FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders by Deshmukh, Amit L, Porro, Antonio, Mohiuddin, Mohiuddin, Lanni, Stella, Panigrahi, Gagan B, Caron, Marie-Christine, Masson, Jean-Yves, Sartori, Alessandro A, Pearson, Christopher E

“…FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and single nucleotide variants of FAN1 have been linked to karyomegalic…”
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Role of CTCF protein in regulating FMR1 locus transcription by Lanni, Stella, Goracci, Martina, Borrelli, Loredana, Mancano, Giorgia, Chiurazzi, Pietro, Moscato, Umberto, Ferrè, Fabrizio, Helmer-Citterich, Manuela, Tabolacci, Elisabetta, Neri, Giovanni

“…Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and…”
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A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo by Nakamori, Masayuki, Panigrahi, Gagan B., Lanni, Stella, Gall-Duncan, Terence, Hayakawa, Hideki, Tanaka, Hana, Luo, Jennifer, Otabe, Takahiro, Li, Jinxing, Sakata, Akihiro, Caron, Marie-Christine, Joshi, Niraj, Prasolava, Tanya, Chiang, Karen, Masson, Jean-Yves, Wold, Marc S., Wang, Xiaoxiao, Lee, Marietta Y. W. T., Huddleston, John, Munson, Katherine M., Davidson, Scott, Layeghifard, Mehdi, Edward, Lisa-Monique, Gallon, Richard, Santibanez-Koref, Mauro, Murata, Asako, Takahashi, Masanori P., Eichler, Evan E., Shlien, Adam, Nakatani, Kazuhiko, Mochizuki, Hideki, Pearson, Christopher E.

“…In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and…”
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Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability by Gall-Duncan, Terence, Luo, Jennifer, Jurkovic, Carla-Marie, Fischer, Laura A., Fujita, Kyota, Deshmukh, Amit L., Harding, Rachel J., Tran, Stephanie, Mehkary, Mustafa, Li, Vanessa, Leib, David E., Chen, Ran, Tanaka, Hikari, Mason, Amanda G., Lévesque, Dominique, Khan, Mahreen, Razzaghi, Mortezaali, Prasolava, Tanya, Lanni, Stella, Sato, Nozomu, Caron, Marie-Christine, Panigrahi, Gagan B., Wang, Peixiang, Lau, Rachel, Castel, Arturo López, Masson, Jean-Yves, Tippett, Lynette, Turner, Clinton, Spies, Maria, La Spada, Albert R., Campos, Eric I., Curtis, Maurice A., Boisvert, François-Michel, Faull, Richard L.M., Davidson, Beverly L., Nakamori, Masayuki, Okazawa, Hitoshi, Wold, Marc S., Pearson, Christopher E.

“…Expansions of repeat DNA tracts cause >70 diseases, and ongoing expansions in brains exacerbate disease. During expansion mutations, single-stranded DNAs…”
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FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability by Deshmukh, Amit Laxmikant, Caron, Marie-Christine, Mohiuddin, Mohiuddin, Lanni, Stella, Panigrahi, Gagan B., Khan, Mahreen, Engchuan, Worrawat, Shum, Natalie, Faruqui, Aisha, Wang, Peixiang, Yuen, Ryan K.C., Nakamori, Masayuki, Nakatani, Kazuhiko, Masson, Jean-Yves, Pearson, Christopher E.

“…Ongoing inchworm-like CAG and CGG repeat expansions in brains, arising by aberrant processing of slipped DNAs, may drive Huntington’s disease, fragile X…”
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Defining the role of the CGGBP1 protein in FMR1 gene expression by Goracci, Martina, Lanni, Stella, Mancano, Giorgia, Palumbo, Federica, Chiurazzi, Pietro, Neri, Giovanni, Tabolacci, Elisabetta

“…Fragile X syndrome is the most common heritable form of intellectual disability and is caused by the expansion over 200 repeats and subsequent methylation of…”
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Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells by Tabolacci, Elisabetta, Mancano, Giorgia, Lanni, Stella, Palumbo, Federica, Goracci, Martina, Ferrè, Fabrizio, Helmer-Citterich, Manuela, Neri, Giovanni

“…Fragile X syndrome (FXS) is caused by CGG expansion over 200 repeats at the 5' UTR of the FMR1 gene and subsequent DNA methylation of both the expanded…”
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C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A by Mirceta, Mila, Schmidt, Monika H M, Shum, Natalie, Prasolava, Tanya K, Meikle, Bryanna, Lanni, Stella, Mohiuddin, Mohiuddin, Mckeever, Paul M, Zhang, Ming, Liang, Minggao, van der Werf, Ilse, Scheers, Stefaan, Dion, Patrick A, Wang, Peixiang, Wilson, Michael D, Abell, Theresa, Philips, Elliot A, Sznajder, Łukasz J, Swanson, Maurice S, Mehkary, Mustafa, Khan, Mahreen, Yokoi, Katsuyuki, Jung, Christine, de Jong, Pieter J, Freudenreich, Catherine H, McGoldrick, Philip, Yuen, Ryan K C, Abrahão, Agessandro, Keith, Julia, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina, Rouleau, Guy A, Kooy, R Frank, Pearson, Christopher E

“…Abstract The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and C9orf72, is linked to multiple diseases. C9orf72 (GGGGCC)n…”
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Role of CTCF Protein in Regulating FMR1 Locus Transcription: e1003601 by Lanni, Stella, Goracci, Martina, Borrelli, Loredana, Mancano, Giorgia, Chiurazzi, Pietro, Moscato, Umberto, Ferrè, Fabrizio, Helmer-Citterich, Manuela, Tabolacci, Elisabetta, Neri, Giovanni

“…Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and…”
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