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Your search keyword '"Neri, Giovanni"' showing total 11 results
Start Over Author "Neri, Giovanni" Journal human molecular genetics
11 results on '"Neri, Giovanni"'

1. ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Author

May, Melanie, Hwang, Kyu-Seok, Miles, Judith, Williams, Charlie, Niranjan, Tejasvi, Kahler, Stephen G., Chiurazzi, Pietro, Steindl, Katharina, Van Der Spek, Peter J., Swagemakers, Sigrid, Mueller, Jennifer, Stefl, Shannon, Alexov, Emil, Ryu, Jeong-Im, Choi, Jung-Hwa, Kim, Hyun-Taek, Tarpey, Patrick, Neri, Giovanni, Holloway, Lynda, Skinner, Cindy, Stevenson, Roger E., Dorsky, Richard I., Wang, Tao, Schwartz, Charles E., and Kim, Cheol-Hee

Published
2015
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2. A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype

Author

Magini, Pamela, Pippucci, Tommaso, Tsai, I-Chun, Coppola, Simona, Stellacci, Emilia, Bartoletti-Stella, Anna, Turchetti, Daniela, Graziano, Claudio, Cenacchi, Giovanna, Neri, Iria, Cordelli, Duccio Maria, Marchiani, Valentina, Bergamaschi, Rosalba, Gasparre, Giuseppe, Neri, Giovanni, Mazzanti, Laura, Patrizi, Annalisa, Franzoni, Emilio, Romeo, Giovanni, Bordo, Domenico, Tartaglia, Marco, Katsanis, Nicholas, and Seri, Marco

Published
2014
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3. Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

Author

Sabatelli, Mario, Eusebi, Fabrizio, Al-Chalabi, Ammar, Conte, Amelia, Madia, Francesca, Luigetti, Marco, Mancuso, Irene, Limatola, Cristina, Trettel, Flavia, Sobrero, Fabrizia, Di Angelantonio, Silvia, Grassi, Francesca, Di Castro, Amalia, Moriconi, Claudia, Fucile, Sergio, Lattante, Serena, Marangi, Giuseppe, Murdolo, Marina, Orteschi, Daniela, Del Grande, Alessandra, Tonali, Pietro, Neri, Giovanni, and Zollino, Marcella

Published
2009

6. A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24

Author

de Mollerat, Xavier J., Gurrieri, Fiorella, Morgan, Chad T., Sangiorgi, Eugenio, Everman, David B., Gaspari, Paola, Amiel, Jeanne, Bamshad, Michael J., Lyle, Robert, Blouin, Jean-Louis, Allanson, Judith E., Le Marec, Bernard, Wilson, Melba, Braverman, Nancy E., Radhakrishna, Uppala, Delozier-Blanchet, Celia, Abbott, Albert, Elghouzzi, Vincent, Antonarakis, Stylianos, Stevenson, Roger E., Munnich, Arnold, Neri, Giovanni, and Schwartz, Charles E.

Published
2003

8. Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.

Author

Vitali, Tiziana, Sossi, Vittorio, Tiziano, Francesco, Zappata, Stefania, Giuli, Anna, Paravatou-Petsotas, Maria, Neri, Giovanni, and Brahe, Christina

Abstract

Studies the role of the survival motor neuron (SMN) gene in the modulation of disease severity in spinal muscular atrophy patients. Genetic basis for the clinical variability in disease severity; Possibility that some SMN2 genes may be functionally different due to sequence variations or rearrangements.

Published
1999
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9. Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

Author

Chiurazzi, Pietro, Pomponi, M. Grazia, Pietrobono, Roberta, Bakker, Cathy E., Neri, Giovanni, and Oostra, Ben A.

Abstract

Most fragile X syndrome patients have expansion of a (CGG)[sub n] sequence with > 200 repeats (full mutation) in the FMR1 gene responsible for this condition. Hypermethylation of the expanded repeat and of the FMR1 promoter is almost always present and apparently suppresses transcription, resulting in absence of the FMR1 protein. We recently showed that transcriptional reactivation of FMR1 full mutations can be achieved by inducing DNA demethylation with 5-azadeoxycytidine (5-azadC). The level of histone acetylation is another important factor in regulating gene expression; therefore, we treated lymphoblastoid cell lines of non-mosaic full mutation patients with three drugs capable of inducing histone hyperacetylation. We observed a consistent, although modest, reactivation of the FMR1 gene with 4-phenylbutyrate, sodium butyrate and trichostatin A, as shown by RT-PCR. However, we report that combining these drugs with 5-azadC results in a 2- to 5-fold increase in FMR1 mRNA levels obtained with 5-azadC alone, thus showing a marked synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of FMR1 full mutations. [ABSTRACT FROM AUTHOR]

Published
1999
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10. In vitro reactivation of the FMR1 gene involved in fragile X syndrome.

Author

Chiurazzi, Pietro, Pomponi, M. Grazia, Willemsen, Rob, Oostra, Ben A., and Neri, Giovanni

Abstract

Investigates whether the activity of the FMR1 gene can be restored in vitro by inducing DNA demethylation with 5-azadeoxycytidine in lymphoblastoid cell lines established from fragile X patients. Correlation of the efficiency of transcription with the degree of demethylation; Effect of cycling cells which incorporate 5-azadC on the extent of promoter demethylation; Translation of mutant FMR1 transcripts with up to 80 CGGS into protein.

Published
1998
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