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4. Transcriptional Regulation : Molecules, involved Mechanisms and Misregulation

Author

Casamassimi, Amelia and Ciccodicola, Alfredo

Abstract

Transcriptional regulation is a critical biological process involved in the response of a cell, a tissue or an organism to a variety of intra- and extra-cellular signals. Besides, it controls the establishment and maintenance of cell identity throughout developmental and differentiation programs. This highly complex and dynamic process is orchestrated by a huge number of molecules and protein networks and occurs through multiple temporal and functional steps. Of note, many human disorders are characterized by misregulation of global transcription since most of the signaling pathways ultimately target components of transcription machinery. This book includes a selection of papers that illustrate recent advances in our understanding of transcriptional regulation and focuses on many important topics, from cis-regulatory elements to transcription factors, chromatin regulators and non-coding RNAs, other than several transcriptome studies and computational analyses.

Published
2019

12. Integrated Network Pharmacology Approach for Drug Combination Discovery: A Multi-Cancer Case Study

Author

Federico, Antonio, primary, Fratello, Michele, additional, Scala, Giovanni, additional, Möbus, Lena, additional, Pavel, Alisa, additional, del Giudice, Giusy, additional, Ceccarelli, Michele, additional, Costa, Valerio, additional, Ciccodicola, Alfredo, additional, Fortino, Vittorio, additional, Serra, Angela, additional, and Greco, Dario, additional

Published
2022
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13. List of Contributors

Author

Abril-Tormo, Carolina, primary, Al-Mahdawi, Sahar, additional, Almeida-Rios, Diogo, additional, Anjomani Virmouni, Sara, additional, Ausio, Juan, additional, Bapat, Bharati, additional, Bevan, Charlotte L., additional, Blackwell, Jenefer M., additional, Bonaldi, Tiziana, additional, Boukaba, Abdelhalim, additional, Brennan, Eoin, additional, Busó, Enrique J., additional, Carmona Sanz, F. Javier, additional, Cervera, Raimundo, additional, Ciccodicola, Alfredo, additional, Climent, Joan, additional, Costa, Valerio, additional, Crujeiras, Ana B., additional, Cuomo, Alessandro, additional, DeVries, Avery, additional, Diaz-Lagares, Angel, additional, Esposito, Roberta, additional, Fatica, Alessandro, additional, Ferro, Alfredo, additional, Fletcher, Claire E., additional, Florea, Ana-Maria, additional, Fraenkel, Ernest, additional, Fujita, Yu, additional, Fujiwara, Tomohiro, additional, Gagliardi, Miriam, additional, García-Giménez, José Luis, additional, Giugno, Rosalba, additional, Godson, Catherine, additional, Graça, Inês, additional, Grønbæk, Kirsten, additional, Hagiwara, Shinji, additional, Henrique, Rui, additional, Ibañez Cabellos, José Santiago, additional, Iborra, Marisa, additional, Ishibashi, Toyotaka, additional, Jamieson, Sarra E., additional, Jerónimo, Carmen, additional, Joshi, Sadhana, additional, Kantharidis, Phillip, additional, Kawai, Akira, additional, Khot, Vinita, additional, Kristensen, Lasse Sommer, additional, Lluch, Ana, additional, López-Guerrero, José Antonio, additional, Lopez-Serra, Paula, additional, Louloupi, Annita, additional, Magnani, Luca, additional, Martínez-Santamaría, Jacobo, additional, Matarazzo, Maria R., additional, McClelland, Aaron, additional, Milani, Pamela, additional, Nezu, Yutaka, additional, Noberini, Roberta, additional, Ochiya, Takahiro, additional, Ozaki, Toshifumi, additional, Pallardó, Federico V., additional, Peiró-Chova, Lorena, additional, Pellegrini, Marco, additional, Petrov, Tandy L.D., additional, Ponce, Olga Bahamonde, additional, Pook, Mark A., additional, Pulvirenti, Alfredo, additional, Ramalho-Carvalho, João, additional, Ramos, Alberto, additional, Rasti, George, additional, Riddle, Nicole C., additional, Riegman, Peter H.J., additional, Romá Mateo, Carlos, additional, Russo, Francesco, additional, Sanchis-Gomar, Fabian, additional, Sandoval, Juan, additional, Scoyni, Flavia, additional, Seco Cervera, Marta, additional, Shibakawa, Akifumi, additional, Simonet, Nicolas G., additional, Sita-Lumsden, Ailsa, additional, Stefansson, Olafur Andri, additional, Sundrani, Deepali, additional, Syn, Genevieve, additional, Tollefsbol, Trygve O., additional, Toska, Eneda, additional, Treppendahl, Marianne B., additional, Ushijima, Toshikazu, additional, Vaquero, Alejandro, additional, Vercelli, Donata, additional, Vieira, Filipa Quintela, additional, Zhang, Yinan, additional, Zhao, Fang, additional, and Zwart, Wilbert, additional

Published
2016
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15. Detrimental Effects of Bartonella henselae Are Counteracted by L-Arginine and Nitric Oxide in Human Endothelial Progenitor Cells

Author

Salvatore, Paola, Casamassimi, Amelia, Sommese, Linda, Fiorito, Carmela, Ciccodicola, Alfredo, Rossiello, Raffaele, Avallone, Bice, Grimaldi, Vincenzo, Costa, Valerio, Rienzo, Monica, Colicchio, Roberta, Williams-Ignarro, Sharon, Pagliarulo, Caterina, Prudente, Maria Evelina, Abbondanza, Ciro, Lamberti, Florentia, Baroni, Adone, Buommino, Elisabetta, Farzati, Bartolomeo, Tufano, Maria Antonietta, Ignarro, Louis Joseph, and Napoli, Claudio

Published
2008
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16. TNFα Mediates Inflammation-Induced Effects on PPARG Splicing in Adipose Tissue and Mesenchymal Precursor Cells

Author

Cataldi, Simona, primary, Aprile, Marianna, additional, Melillo, Daniela, additional, Mucel, Inès, additional, Giorgetti-Peraldi, Sophie, additional, Cormont, Mireille, additional, Italiani, Paola, additional, Blüher, Matthias, additional, Tanti, Jean-François, additional, Ciccodicola, Alfredo, additional, and Costa, Valerio, additional

Published
2021
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18. Glucose impairs tamoxifen responsiveness modulating connective tissue growth factor in breast cancer cells

Author

Ambrosio, Maria Rosaria, D'Esposito, Vittoria, Costa, Valerio, Liguoro, Domenico, Collina, Francesca, Cantile, Monica, Prevete, Nella, Passaro, Carmela, MOSCA, GIUSY, De Laurentiis, Michelino, Di Bonito, Maurizio, Botti, Gerardo, Franco, Renato, Beguinot, Francesco, Ciccodicola, Alfredo, Formisano, Pietro, PREVETE, Nella, Ambrosio, Maria Rosaria, D'Esposito, Vittoria, Costa, Valerio, Liguoro, Domenico, Collina, Francesca, Cantile, Monica, Prevete, Nella, Passaro, Carmela, Mosca, Giusy, De Laurentiis, Michelino, Di Bonito, Maurizio, Botti, Gerardo, Franco, Renato, Beguinot, Francesco, Ciccodicola, Alfredo, and Formisano, Pietro

Subjects
0301 basic medicine, medicine.medical_specialty, Adipose tissue, Connective tissue, Estrogen receptor, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, breast cancer, Internal medicine, medicine, connective tissue growth factor, glucose, skin and connective tissue diseases, Cancer prevention, tamoxifen, business.industry, Cancer, medicine.disease, adipose tissue, CTGF, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Oncology, 030220 oncology & carcinogenesis, business, Tamoxifen, medicine.drug, Research Paper
Abstract

// Maria Rosaria Ambrosio 1, * , Vittoria D’Esposito 1, * , Valerio Costa 2 , Domenico Liguoro 1 , Francesca Collina 3 , Monica Cantile 3 , Nella Prevete 1 , Carmela Passaro 1 , Giusy Mosca 1 , Michelino De Laurentiis 4 , Maurizio Di Bonito 3 , Gerardo Botti 3 , Renato Franco 5 , Francesco Beguinot 1 , Alfredo Ciccodicola 2, 6 and Pietro Formisano 1 1 Department of Translational Medicine, University of Naples “Federico II” & URT “Genomic of Diabetes” of Institute of Experimental Endocrinology and Oncology “G. Salvatore”, National Council of Research (CNR), Naples 80131, Italy 2 Institute of Genetic and Biophysics “A. Buzzati-Traverso”, CNR, Naples 80131, Italy 3 Pathology Unit, National Cancer Institute “G. Pascale Foundation”, Naples 80131, Italy 4 Department of Breast Surgery and Cancer Prevention, National Cancer Institute “G. Pascale Foundation”, Naples 80131, Italy 5 Pathology Unit, Universita degli Studi della Campania “Luigi Vanvitelli”, Naples 80138, Italy 6 Department of Science and Technology, University of Naples “Parthenope”, Naples 80131, Italy * These authors have equally contributed to this work Correspondence to: Pietro Formisano, email: fpietro@unina.it Keywords: breast cancer; tamoxifen; glucose; adipose tissue; connective tissue growth factor Received: April 21, 2017 Accepted: July 25, 2017 Published: November 20, 2017 ABSTRACT Type 2 diabetes and obesity are negative prognostic factors in patients with breast cancer (BC). We found that sensitivity to tamoxifen was reduced by 2-fold by 25 mM glucose (High Glucose; HG) compared to 5.5 mM glucose (Low Glucose; LG) in MCF7 BC cells. Shifting from HG to LG ameliorated MCF7 cell responsiveness to tamoxifen. RNA-Sequencing of MCF7 BC cells revealed that cell cycle-related genes were mainly affected by glucose. Connective Tissue Growth Factor (CTGF) was identified as a glucose-induced modulator of cell sensitivity to tamoxifen. Co-culturing MCF7 cells with human adipocytes exposed to HG, enhanced CTGF mRNA levels and reduced tamoxifen responsiveness of BC cells. Inhibition of adipocyte-released IL8 reverted these effects. Interestingly, CTGF immuno-detection in bioptic specimens from women with estrogen receptor positive (ER + ) BC correlated with hormone therapy resistance, distant metastases, reduced overall and disease-free survival. Thus, glucose affects tamoxifen responsiveness directly modulating CTGF in BC cells, and indirectly promoting IL8 release by adipocytes.

Published
2017

22. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

Author

Gargiulo, Annagiusi, Auricchio, Renata, Barone, Maria Vittoria, Cotugno, Gabriella, Reardon, William, Milla, Peter J., Ballabio, Andrea, Ciccodicola, Alfredo, and Auricchio, Alberto

Subjects
Gene expression -- Research, Fetal brain -- Genetic aspects, Gene mutations -- Research, Biological sciences
Abstract

The expression in murine fetal brain and intestine of 56 genes from the critical region is analyzed to select candidate genes for the disease. Results indicated that one affected male from a large CIIPX-affected kindred bears a 2-bp deletion in exon 2 of the FLNA gene that is present at the heterozygous state in the carrier females of the family.

Published
2007

24. The DNA sequence of the human X chromosome

Author

Ross, Mark T., Grafham, Darren V., Coffey, Alison J., Scherer, Steven, McLay, Kirsten, Muzny, Donna, Platzer, Matthias, Howell, Gareth R., Burrows, Christine, Bird, Christine P., Frankish, Adam, Lovell, Frances L., Howe, Kevin L., Ashurst, Jennifer L., Fulton, Robert S., Sudbrak, Ralf, Wen, Gaiping, Jones, Matthew C., Hurles, Matthew E., Andrews, T. Daniel, Scott, Carol E., Searle, Stephen, Ramser, Juliane, Whittaker, Adam, Deadman, Rebecca, Carter, Nigel P., Hunt, Sarah E., Chen, Rui, Cree, Andrew, Gunaratne, Preethi, Havlak, Paul, Hodgson, Anne, Metzker, Michael L., Richards, Stephen, Scott, Graham, Steffen, David, Sodergren, Erica, Wheeler, David A., Worley, Kim C., Ainscough, Rachael, Ambrose, Kerrie D., Ansari-Lari, M. Ali, Aradhya, Swaroop, Ashwell, Robert I. S., Babbage, Anne K., Bagguley, Claire L., Ballabio, Andrea, Banerjee, Ruby, Barker, Gary E., Barlow, Karen F., Barrett, Ian P., Bates, Karen N., Beare, David M., Beasley, Helen, Beasley, Oliver, Beck, Alfred, Bethel, Graeme, Blechschmidt, Karin, Brady, Nicola, Bray-Allen, Sarah, Bridgeman, Anne M., Brown, Andrew J., Brown, Mary J., Bonnin, David, Bruford, Elspeth A., Buhay, Christian, Burch, Paula, Burford, Deborah, Burgess, Joanne, Burrill, Wayne, Burton, John, Bye, Jackie M., Carder, Carol, Carrel, Laura, Chako, Joseph, Chapman, Joanne C., Chavez, Dean, Chen, Ellson, Chen, Guan, Chen, Yuan, Chen, Zhijian, Chinault, Craig, Ciccodicola, Alfredo, Clark, Sue Y., Clarke, Graham, Clee, Chris M., Clegg, Sheila, Clerc-Blankenburg, Kerstin, Clifford, Karen, Cobley, Vicky, Cole, Charlotte G., Conquer, Jen S., Corby, Nicole, Connor, Richard E., David, Robert, Davies, Joy, Davis, Clay, Davis, John, Delgado, Oliver, DeShazo, Denise, Dhami, Pawandeep, Ding, Yan, Dinh, Huyen, Dodsworth, Steve, Draper, Heather, Dugan-Rocha, Shannon, Dunham, Andrew, Dunn, Matthew, Durbin, K. James, Dutta, Ireena, Eades, Tamsin, Ellwood, Matthew, Emery-Cohen, Alexandra, Errington, Helen, Evans, Kathryn L., Faulkner, Louisa, Francis, Fiona, Frankland, John, Fraser, Audrey E., Galgoczy, Petra, Gilbert, James, Gill, Rachel, Glockner, Gernot, Gregory, Simon G., Gribble, Susan, Griffiths, Coline, Grocock, Russell, Gu, Yanghong, Gwilliam, Rhian, Hamilton, Cerissa, Hart, Elizabeth A., Hawes, Alicia, Heath, Paul D., Heitmann, Katja, Hennig, Steffen, Hernandez, Judith, Hinzmann, Bernd, Ho, Sarah, Hoffs, Michael, Howden, Phillip J., Huckle, Elizabeth J., Hume, Jennifer, Hunt, Paul J., Hunt, Adrienne R., Isherwood, Judith, Jacob, Leni, Johnson, David, Jones, Sally, de Jong, Pieter J., Joseph, Shirin S., Keenan, Stephen, Kelly, Susan, Kershaw, Joanne K., Khan, Ziad, Kioschis, Petra, Klages, Sven, Knights, Andrew J., Kosiura, Anna, Kovar-Smith, Christie, Laird, Gavin K., Langford, Cordelia, Lawlor, Stephanie, Leversha, Margaret, Lewis, Lora, Liu, Wen, Lloyd, Christine, Lloyd, David M., Loulseged, Hermela, Loveland, Jane E., Lovell, Jamieson D., Lozado, Ryan, Lu, Jing, Lyne, Rachael, Ma, Jie, Maheshwari, Manjula, Matthews, Lucy H., McDowall, Jennifer, McLaren, Stuart, McMurray, Amanda, Meidl, Patrick, Meitinger, Thomas, Milne, Sarah, Miner, George, Mistry, Shailesh L., Morgan, Margaret, Morris, Sidney, Muller, Ines, Mullikin, James C., Nguyen, Ngoc, Nordsiek, Gabriele, Nyakatura, Gerald, O'Dell, Christopher N., Okwuonu, Geoffery, Palmer, Sophie, Pandian, Richard, Parker, David, Parrish, Julia, Pasternak, Shiran, Patel, Dina, Pearce, Alex V., Pearson, Danita M., Pelan, Sarah E., Perez, Lesette, Porter, Keith M., Ramsey, Yvonne, Reichwald, Kathrin, Rhodes, Susan, Ridler, Kerry A., Schlessinger, David, Schueler, Mary G., Sehra, Harminder K., Shaw-Smith, Charles, Shen, Hua, Sheridan, Elizabeth M., Shownkeen, Ratna, Skuce, Carl D., Smith, Michelle L., Sotheran, Elizabeth C., Steingruber, Helen E., Steward, Charles A., Storey, Roy, Swann, R. Mark, Swarbreck, David, Tabor, Paul E., Taudien, Stefan, Taylor, Tineace, Teague, Brian, Thomas, Karen, Thorpe, Andrea, Timms, Kirsten, Tracey, Alan, Trevanion, Steve, Tromans, Anthony C., d'Urso, Michele, Verduzco, Daniel, Villasana, Donna, Waldron, Lenee, Wall, Melanie, Wang, Qiaoyan, Warren, James, Warry, Georgina L., Wei, Xuehong, West, Anthony, Whitehead, Siobhan L., Whiteley, Mathew N., Wilkinson, Jane E., Willey, David L., Williams, Gabrielle, Williams, Leanne, Williamson, Angela, Williamson, Helen, Wilming, Laurens, Woodmansey, Rebecca L., Wray, Paul W., Yen, Jennifer, Zhang, Jingkun, Zhou, Jianling, Zoghbi, Huda, Zorilla, Sara, Buck, David, Reinhardt, Richard, Poustka, Annemarie, Rosenthal, Andre, Lehrach, Hans, Meindl, Alfons, Minx, Patrick J., Hillier, LaDeana W., Willard, Huntington F., Wilson, Richard K., Waterston, Robert H., Rice, Catherine M., Vaudin, Mark, Coulson, Alan, Nelson, David L., Weinstock, George, Sulston, John E., Durbin, Richard, Hubbard, Tim, Gibbs, Richard A., Beck, Stephan, Rogers, Jane, and Bentley, David R.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Mark T. Ross (corresponding author) [1]; Darren V. Grafham [1]; Alison J. Coffey [1]; Steven Scherer [2]; Kirsten McLay [1]; Donna Muzny [2]; Matthias Platzer [3]; Gareth R. Howell [...]

Published
2005
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30. Mutation analysis of the DKC1 gene in incontinentia pigmenti

Author

HEISS, NINA S, POUSTKA, ANNEMARIE, KNIGHT, STUART W, ARADHYA, SWAROOP, NELSON, DAVID L, LEWIS, RICHARD A, ESPOSITO, TERESA, CICCODICOLA, ALFREDO, D'URSO, MICHELE, SMAHI, ASMAE, HEUERTZ, SOLANGE, MUNNICH, ARNOLD, VABRES, PIERRE, WOFFENDIN, HAYLEY, and KENWRICK, SUSAN

Published
1999

33. PPARγΔ5, a Naturally Occurring Dominant-Negative Splice Isoform, Impairs PPARγ Function and Adipocyte Differentiation

Author

Aprile, Marianna, primary, Cataldi, Simona, additional, Ambrosio, Maria Rosaria, additional, D’Esposito, Vittoria, additional, Lim, Koini, additional, Dietrich, Arne, additional, Blüher, Matthias, additional, Savage, David Bousfield, additional, Formisano, Pietro, additional, Ciccodicola, Alfredo, additional, and Costa, Valerio, additional

Published
2018
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34. Impairment of circulating endothelial progenitors in Down syndrome

Author

Costa Valerio, Sommese Linda, Casamassimi Amelia, Colicchio Roberta, Angelini Claudia, Marchesano Valentina, Milone Lara, Farzati Bartolomeo, Giovane Alfonso, Fiorito Carmela, Rienzo Monica, Picardi Marco, Avallone Bice, Marco Corsi Massimiliano, Sarubbi Berardo, Calabrò Raffaele, Salvatore Paola, Ciccodicola Alfredo, and Napoli Claudio

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Pathological angiogenesis represents a critical issue in the progression of many diseases. Down syndrome is postulated to be a systemic anti-angiogenesis disease model, possibly due to increased expression of anti-angiogenic regulators on chromosome 21. The aim of our study was to elucidate some features of circulating endothelial progenitor cells in the context of this syndrome. Methods Circulating endothelial progenitors of Down syndrome affected individuals were isolated, in vitro cultured and analyzed by confocal and transmission electron microscopy. ELISA was performed to measure SDF-1α plasma levels in Down syndrome and euploid individuals. Moreover, qRT-PCR was used to quantify expression levels of CXCL12 gene and of its receptor in progenitor cells. The functional impairment of Down progenitors was evaluated through their susceptibility to hydroperoxide-induced oxidative stress with BODIPY assay and the major vulnerability to the infection with human pathogens. The differential expression of crucial genes in Down progenitor cells was evaluated by microarray analysis. Results We detected a marked decrease of progenitors' number in young Down individuals compared to euploid, cell size increase and some major detrimental morphological changes. Moreover, Down syndrome patients also exhibited decreased SDF-1α plasma levels and their progenitors had a reduced expression of SDF-1α encoding gene and of its membrane receptor. We further demonstrated that their progenitor cells are more susceptible to hydroperoxide-induced oxidative stress and infection with Bartonella henselae. Further, we observed that most of the differentially expressed genes belong to angiogenesis, immune response and inflammation pathways, and that infected progenitors with trisomy 21 have a more pronounced perturbation of immune response genes than infected euploid cells. Conclusions Our data provide evidences for a reduced number and altered morphology of endothelial progenitor cells in Down syndrome, also showing the higher susceptibility to oxidative stress and to pathogen infection compared to euploid cells, thereby confirming the angiogenesis and immune response deficit observed in Down syndrome individuals.

Published
2010
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37. DDX11L: a novel transcript family emerging from human subtelomeric regions

Author

D'Urso Michele, Matarazzo Maria R, Gianfrancesco Fernando, Roberto Roberta, Casamassimi Amelia, Costa Valerio, D'Esposito Maurizio, Rocchi Mariano, and Ciccodicola Alfredo

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background The subtelomeric regions of human chromosomes exhibit an extraordinary plasticity. To date, due to the high GC content and to the presence of telomeric repeats, the subtelomeric sequences are underrepresented in the genomic libraries and consequently their sequences are incomplete in the finished human genome sequence, and still much remains to be learned about subtelomere organization, evolution and function. Indeed, only in recent years, several studies have disclosed, within human subtelomeres, novel gene family members. Results During a project aimed to analyze genes located in the telomeric region of the long arm of the human X chromosome, we have identified a novel transcript family, DDX11L, members of which map to 1pter, 2q13/14.1, 2qter, 3qter, 6pter, 9pter/9qter, 11pter, 12pter, 15qter, 16pter, 17pter, 19pter, 20pter/20qter, Xpter/Xqter and Yqter. Furthermore, we partially sequenced the underrepresented subtelomeres of human chromosomes showing a common evolutionary origin. Conclusion Our data indicate that an ancestral gene, originated as a rearranged portion of the primate DDX11 gene, and propagated along many subtelomeric locations, is emerging within subtelomeres of human chromosomes, defining a novel gene family. These findings support the possibility that the high plasticity of these regions, sites of DNA exchange among different chromosomes, could trigger the emergence of new genes.

Published
2009
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38. Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility

Author

Ciccodicola Alfredo, Colson Natalie J, Lea Rod A, Esposito Teresa, Fernandez Francesca, Gianfrancesco Fernando, and Griffiths Lyn R

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Migraine is a neurological disorder characterized by recurrent attacks of severe headache, affecting around 12% of Caucasian populations. It is well known that migraine has a strong genetic component, although the number and type of genes involved is still unclear. Prior linkage studies have reported mapping of a migraine gene to chromosome Xq 24–28, a region containing a cluster of genes for GABA A receptors (GABRE, GABRA3, GABRQ), which are potential candidate genes for migraine. The GABA neurotransmitter has been implicated in migraine pathophysiology previously; however its exact role has not yet been established, although GABA receptors agonists have been the target of therapeutic developments. The aim of the present research is to investigate the role of the potential candidate genes reported on chromosome Xq 24–28 region in migraine susceptibility. In this study, we have focused on the subunit GABA A receptors type ε (GABRE) and type θ (GABRQ) genes and their involvement in migraine. Methods We have performed an association analysis in a large population of case-controls (275 unrelated Caucasian migraineurs versus 275 controls) examining a set of 3 single nucleotide polymorphisms (SNPs) in the coding region (exons 3, 5 and 9) of the GABRE gene and also the I478F coding variant of the GABRQ gene. Results Our study did not show any association between the examined SNPs in our test population (P > 0.05). Conclusion Although these particular GABA receptor genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility.

Published
2008
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39. NEXT GENERATION SEQUENCING AND CARDIAC TRANSPLANTATION

Author

Grimaldi, Vincenzo, Rienzo, Monica, Picascia, Antonietta, Schiano, Concetta, Costa, Valerio, Ciccodicola, Alfredo, Pignalosa, Orlando, Pascale, Maria Rosaria, Cristiano Amarelli, Maiello, Ciro, Napoli, Claudio, Grimaldi, Vincenzo, Rienzo, Monica, Picascia, Antonietta, Schiano, Concetta, Costa, Valerio, Ciccodicola, Alfredo, Pignalosa, Orlando, Rosaria De Pascale, Maria, Cristianoamarelli, Maiello, Ciro, and Napoli, Claudio

Published
2015

42. Characterization of a novel polymorphism in PPARG regulatory region associated with type 2 diabetes and diabetic retinopathy in Italy

Author

Costa, Valerio, Casamassimi, Amelia, Esposito, Katherine, Villani, Angela, Capone, Mariaelena, Iannella, Rosa, Schisano, Bruno, Ciotola, Miryam, Palo, Carmen Di, Corrado, Feliciantonia Capone, Santangelo, Franco, Giugliano, Dario, and Ciccodicola, Alfredo

Subjects
Genetic aspects, Research, Diabetic retinopathy -- Genetic aspects -- Research, Type 2 diabetes -- Genetic aspects -- Research, Genetic polymorphisms -- Research -- Genetic aspects
Abstract

1. Introduction Peroxisome proliferator-activated receptor gamma (PPARG) gene is a member of nuclear hormone receptor superfamily, and it regulates the transcription of several genes involved in glucose metabolism, adipocyte differentiation, [...], Peroxisome proliferator-activated receptor gamma polymorphisms have been widely associated with type 2 diabetes, although their role in the pathogenesis of vascular complications is not yet demonstrated. In this study, a cohort of 211 type 2 diabetes, 205 obese, and 254 control individuals was genotyped for Pro12Ala, C1431T, C-2821T polymorphisms, and for a newly identified polymorphism (A-2819G). The above-mentioned polymorphisms were analyzed by gene-specific PCR and direct sequencing of all samples. A significant difference was found for -2819G frequency when patients with type 2 diabetes--particularly diabetic women with the proliferative retinopathy--were compared with healthy control individuals. In conclusion, we identified a novel polymorphism, A-2819G, in PPARG gene, and we found it to be associated with type 2 diabetes and proliferative retinopathy in diabetic females. In the analyzed population, this variant represents a genetic risk factor for developing the diabetic retinopathy, whereas Pro12Ala and C1431T do not. Copyright [C] 2009 Valerio Costa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Published
2009
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47. Pharmacogenomics of Drug Response in Type 2 Diabetes: Toward the Definition of Tailored Therapies?

Author

Pollastro, Carla, Ziviello, Carmela, Costa, Valerio, and Ciccodicola, Alfredo

Subjects
Article Subject
Abstract

Type 2 diabetes is one of the major causes of mortality with rapidly increasing prevalence. Pharmacological treatment is the first recommended approach after failure in lifestyle changes. However, a significant number of patients shows—or develops along time and disease progression—drug resistance. In addition, not all type 2 diabetic patients have the same responsiveness to drug treatment. Despite the presence of nongenetic factors (hepatic, renal, and intestinal), most of such variability is due to genetic causes. Pharmacogenomics studies have described association between single nucleotide variations and drug resistance, even though there are still conflicting results. To date, the most reliable approach to investigate allelic variants is Next-Generation Sequencing that allows the simultaneous analysis, on a genome-wide scale, of nucleotide variants and gene expression. Here, we review the relationship between drug responsiveness and polymorphisms in genes involved in drug metabolism (CYP2C9) and insulin signaling (ABCC8, KCNJ11, and PPARG). We also highlight the advancements in sequencing technologies that to date enable researchers to perform comprehensive pharmacogenomics studies. The identification of allelic variants associated with drug resistance will constitute a solid basis to establish tailored therapeutic approaches in the treatment of type 2 diabetes.

Published
2015
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48. E2 multimeric scaffold for vaccine formulation: immune response by intranasal delivery and transcriptome profile of E2-pulsed dendritic cells

Author

Trovato, Maria, primary, Maurano, Francesco, additional, D’Apice, Luciana, additional, Costa, Valerio, additional, Sartorius, Rossella, additional, Cuccaro, Fausta, additional, McBurney, Sean P., additional, Krebs, Shelly J., additional, Prisco, Antonella, additional, Ciccodicola, Alfredo, additional, Rossi, Mauro, additional, Haigwood, Nancy L., additional, and De Berardinis, Piergiuseppe, additional

Published
2016
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