Search Results - "Buonaiuto, Silvia"

LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer by Cave, Donatella Delle, Buonaiuto, Silvia, Sainz, Bruno, Fantuz, Marco, Mangini, Maria, Carrer, Alessandro, Di Domenico, Annalisa, Iavazzo, Tea Teresa, Andolfi, Gennaro, Cortina, Carme, Sevillano, Marta, Heeschen, Christopher, Colonna, Vincenza, Corona, Marco, Cucciardi, Antonio, Di Guida, Martina, Batlle, Eduard, De Luca, Annachiara, Lonardo, Enza

“…Tumor-initiating cells (TIC), also known as cancer stem cells, are considered a specific subpopulation of cells necessary for cancer initiation and metastasis;…”

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Effect of Cholesterol-Lowering Variants in ANGPTL3 and APOB Genes on Liver Disease by Di Costanzo, Alessia, Pirona, Ilaria, Buonaiuto, Silvia, D’Erasmo, Laura, Bini, Simone, Tramontano, Daniele, Covino, Stella, Maiorca, Carlo, Minicocci, Ilenia, Sponziello, Marialuisa, Baratta, Francesco, Commodari, Daniela, Colonna, Vincenza, Via, Allegra, Arca, Marcello

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Three-dimensional environment sensitizes pancreatic cancer cells to the anti-proliferative effect of budesonide by reprogramming energy metabolism by Ibello, Eduardo, Saracino, Federica, Delle Cave, Donatella, Buonaiuto, Silvia, Amoroso, Filomena, Andolfi, Gennaro, Corona, Marco, Guardiola, Ombretta, Colonna, Vincenza, Sainz Jr, Bruno, Altucci, Lucia, De Cesare, Dario, Cobellis, Gilda, Lonardo, Enza, Patriarca, Eduardo Jorge, D’Aniello, Cristina, Minchiotti, Gabriella

“…Pancreatic ductal adenocarcinoma (PDAC) is the most lethal cancer with an aggressive metastatic phenotype and very poor clinical prognosis. Interestingly, a…”

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TGF-β1-mediated downregulation of L1CAM in pancreatic ductal adenocarcinoma drives upregulation of collagen 17A1 and MMP2, facilitating tumor invasiveness and metastasis by Cave, Donatella Delle, Di Domenico, Annalisa, Fantuz, Marco, Ciotola, Marianna, Mangini, Maria, Buonaiuto, Silvia, Corrado, Brunella, Corona, Marco, Saracino, Federica, Andolfi, Gennaro, Di Biase, Ilaria, Cucciardi, Antonio, Carrer, Alessandro, Sainz, Bruno, Pirozzi, Teresa, Re, Daniele Lo, Colonna, Vincenza, Minchiotti, Gabriella, De Luca, Anna Chiara, Lonardo, Enza

“…The highly fibrotic microenvironment of pancreatic ductal adenocarcinoma (PDAC) poses significant challenges for effective treatment, particularly in drug…”

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Prioritization of putatively detrimental variants in euploid miscarriages by Buonaiuto, Silvia, Biase, Immacolata Di, Aleotti, Valentina, Ravaei, Amin, Marino, Adriano De, Damaggio, Gianluca, Chierici, Marco, Pulijala, Madhuri, D’Ambrosio, Palmira, Esposito, Gabriella, Ayub, Qasim, Furlanello, Cesare, Greco, Pantaleo, Capalbo, Antonio, Rubini, Michele, Biase, Sebastiano Di, Colonna, Vincenza

“…Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the…”

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Predictive medicine in a testis trio‐family through a combined multi‐omics approach by Di Maggio, Federica, Damaggio, Gianluca, Nunziato, Marcella, Buonaiuto, Silvia, Crocetto, Felice, Calabrese, Alessandra, Aveta, Achille, Vino, Gioacchino, Donvito, Giacinto, Pandolfo, Savio Domenico, Imbimbo, Ciro, Colonna, Vincenza, Salvatore, Francesco

“…[...]generation (short-reads) by next-generation sequencing nucleic acids sequencing and third-generation Oxford Nanopore Technology (long-reads and whole…”

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Gaps and complex structurally variant loci in phased genome assemblies by Porubsky, David, Vollger, Mitchell R., Harvey, William T., Rozanski, Allison N., Ebert, Peter, Hickey, Glenn, Hasenfeld, Patrick, Sanders, Ashley D., Stober, Catherine, Korbel, Jan O., Paten, Benedict, Marschall, Tobias, Eichler, Evan E., Abel, Haley J., Antonacci-Fulton, Lucinda L., Asri, Mobin, Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Bourque, Guillaume, Buonaiuto, Silvia, Carroll, Andrew, Chaisson, Mark J.P., Chang, Pi Chuan, Chang, Xian H., Cheng, Haoyu, Chu, Justin, Cody, Sarah, Colonna, Vincenza, Cook, Daniel E., Cook-Deegan, Robert M., Cornejo, Omar E., Diekhans, Mark, Doerr, Daniel, Ebler, Jana, Eizenga, Jordan M., Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L., Feng, Xiaowen, Fischer, Christian, Flicek, Paul, Formenti, Giulio, Frankish, Adam, Fulton, Robert S., Garg, Shilpa, Wang, Ting

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A draft human pangenome reference by Liao, Wen-Wei, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M., Feng, Xiaowen, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T., Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung-Yu, Martin, Fergal J., Mitchell, Matthew W., Munson, Katherine M., Mwaniki, Moses Njagi, Novak, Adam M., Olsen, Hugh E., Sirén, Jouni, Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R., Antonacci-Fulton, Lucinda L., Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi-Chuan, Cook, Daniel E., Cook-Deegan, Robert M., Diekhans, Mark, Ebert, Peter, Fedrigo, Olivier, Frankish, Adam, Gao, Yan, Garrison, Nanibaa’ A., Giron, Carlos Garcia, Green, Richard E., Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P., Koenig, Barbara A., Korbel, Jan O., Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D., Popejoy, Alice B., Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A., Rhie, Arang, Sacco, Samuel, Sanders, Ashley D., Schneider, Valerie A., Schultz, Baergen I., Shafin, Kishwar, Sofia, Heidi J., Abou Tayoun, Ahmad N., Thibaud-Nissen, Françoise, Tricomi, Francesca Floriana, Wagner, Justin, Wood, Jonathan M. D., Zimin, Aleksey V., Bourque, Guillaume, Chaisson, Mark J. P., Flicek, Paul, Phillippy, Adam M., Zook, Justin M., Eichler, Evan E., Haussler, David, Wang, Ting, Miga, Karen H., Garrison, Erik, Marschall, Tobias, Hall, Ira M., Li, Heng, Paten, Benedict

“…Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies…”

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Abstract PO-048: Lack of L1CAM increases tumorigenicity, stemness and tumor fibrosis in pancreatic ductal adenocarcinoma by Cave, Donatella Delle, Buonaiuto, Silvia, Colonna, Vincenza, Lonardo, Enza

“…Pancreatic ductal adenocarcinoma (PDAC) is a devastating disease with a 5-year survival rate of <8%, characterized by extensive fibrosis, which causes…”

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The interaction between APOB loss-of-function variants and risk factors in shaping chronic liver disease risk by Di Costanzo, Alessia, Pirona, Ilaria, D'Erasmo, Laura, Buonaiuto, Silvia, Bini, Simone, Tramontano, Daniele, Covino, Stella, Maiorca, Carlo, Minicocci, Ilenia, Baratta, Francesco, Colonna, Vincenza, Via, Allegra, Arca, Marcello

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Increased mutation and gene conversion within human segmental duplications by Vollger, Mitchell R., Dishuck, Philip C., Harvey, William T., DeWitt, William S., Guitart, Xavi, Goldberg, Michael E., Rozanski, Allison N., Lucas, Julian, Asri, Mobin, Munson, Katherine M., Lewis, Alexandra P., Hoekzema, Kendra, Logsdon, Glennis A., Porubsky, David, Paten, Benedict, Harris, Kelley, Hsieh, PingHsun, Eichler, Evan E.

“…Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read…”

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Cholesterol lowering variants in APOB and risk of liver disease by Di Costanzo, Alessia, Pirona, Ilaria, Buonaiuto, Silvia, D'Erasmo, Laura, Sponziello, Maria Luisa, Minicocci, Ilenia, Bini, Simone, Tramontano, Daniele, Covino, Stella, Maiorca, Carlo, Baratta, Francesco, Colonna, Vincenza, Via, Allegra, Arca, Marcello

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Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest by Capalbo, Antonio, Buonaiuto, Silvia, Figliuzzi, Matteo, Damaggio, Gianluca, Girardi, Laura, Caroselli, Silvia, Poli, Maurizio, Patassini, Cristina, Cetinkaya, Murat, Yuksel, Beril, Azad, Ajuna, Grøndahl, Marie Louise, Hoffmann, Eva R., Simón, Carlos, Colonna, Vincenza, Kahraman, Semra

“…Can a methodology be developed for case selection and whole-exome sequencing (WES) analysis of women who are infertile owing to recurrent oocyte maturation…”

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Insights from the Biorepository and Integrative Genomics pediatric resource by Buonaiuto, Silvia, Marsico, Franco, Mohammed, Akram, Chinthala, Lokesh K., Amos-Abanyie, Ernestine K., Prins, Pjotr, Mozhui, Khyobeni, Rooney, Robert J., Williams, Robert W., Davis, Robert L., Finkel, Terri H., Brown, Chester W., Colonna, Vincenza

“…The Biorepository and Integrative Genomics (BIG) Initiative in Tennessee has developed a pioneering resource to address gaps in genomic research by linking…”

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Insight into Nephrocan Function in Mouse Endoderm Patterning by Addeo, Martina, Buonaiuto, Silvia, Guerriero, Ilaria, Amendola, Elena, Visconte, Feliciano, Marino, Antonio, De Angelis, Maria Teresa, Russo, Filomena, Roberto, Luca, Marotta, Pina, Russo, Nicola Antonino, Iervolino, Anna, Amodio, Federica, De Felice, Mario, Lucci, Valeria, Falco, Geppino

“…Endoderm-derived organs as liver and pancreas are potential targets for regenerative therapies, and thus, there is great interest in understanding the pathways…”

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GENOMICS ANALYSIS OF MATERNAL EXOMES REVEALS NEW CANDIDATE GENES AND PATHWAYS FOR THE DIAGNOSIS AND PREDICTION OF RECURRENT PREIMPLANTATION EMBRYO ARREST IN IVF CYCLES by Kahraman, Semra, Sagir, Fulya Gokdagli, Yuksel, Beril, Cetinkaya, Murat, Gavaz, Meral, Kara, Burcu, Yesil, Mesut, Akar, Gunkut, Buonaiuto, Silvia, Damaggio, Gianluca, Fabiani, Marco, De Marino, Adriano, Colonna, Vincenza, Prof, Carlos Simon, Capalbo, Antonio

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The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort by Buonaiuto, Silvia, Marsico, Franco, Mohammed, Akram, Chinthala, Lokesh K, Amos-Abanyie, Ernestine K, Prins, Pjotr, Mozhui, Kyobeni, Rooney, Robert J, Williams, Robert W, Davis, Robert L, Finkel, Terri H, Brown, Chester W, Colonna, Vincenza

“…The Biorepository and Integrative Genomics (BIG) Initiative in Tennessee has developed a pioneering resource to address gaps in genomic research by linking…”

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Identity-by-descent captures Shared Environmental Factors at Biobank Scale by Marsico, Franco, Buonaiuto, Silvia, Amos-Abanyie, Ernestine, Chinthala, Lokesh, Mohammed, Akram, Genetics Center, Regeneron, Rooney, Robert, Williams, Robert W., Davis, Robert L, Finkel, Terri H, Brown, Chester W, Prins, Pjotr, Colonna, Vincenza

“…The apple does not fall far from the tree is an old idiom that encapsulates a key concept: being related extends beyond merely sharing genetic material. It…”

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Recombination between heterologous human acrocentric chromosomes by Guarracino, Andrea, Buonaiuto, Silvia, Gomes De Lima, Leonardo, Potapova, Tamara, Rhie, Arang, Koren, Sergey, Rubinstein, Boris, Fischer, Christian, Human Pangenome Reference Consortium, Gerton, Jennifer L, Phillippy, Adam M, Colonna, Vincenza, Garrison, Erik

“…The short arms of the human acrocentric chromosomes 13, 14, 15, 21, and 22 share large homologous regions, including the ribosomal DNA repeats and extended…”

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LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer by Donatella Delle Cave, Buonaiuto, Silvia, Mangini, Maria, Sainz, Bruno, Annalisa Di Domenico, Iavazzo, Tea Teresa, Andolfi, Gennaro, Carme Cortina Duran, Sevillano, Marta, Heeschen, Christopher, Colonna, Vincenza, Corona, Marco, Cucciardi, Antonio, Martina Di Guida, Batlle, Eduard, Annachiara De Luca, Lonardo, Enza

“…Tumor-initiating cells (TIC), also known as cancer stem cells, are considered a specific subpopulation of cells necessary for cancer initiation and metastasis…”

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