142 results on '"Twine, Natalie A."'
Search Results
2. Novel Alzheimer’s disease genes and epistasis identified using machine learning GWAS platform
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Lundberg, Mischa, Sng, Letitia M. F., Szul, Piotr, Dunne, Rob, Bayat, Arash, Burnham, Samantha C., Bauer, Denis C., and Twine, Natalie A.
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- 2023
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3. Scalable genomic data exchange and analytics with sBeacon
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Wickramarachchi, Anuradha, Hosking, Brendan, Jain, Yatish, Grimes, John, O’Brien, Mitchell J., Wright, Tracey, Burgess, Mark A., Lin, Victor San Kho, Reisinger, Florian, Hofmann, Oliver, Lawley, Michael, Wilson, Laurence O. W., Twine, Natalie A., and Bauer, Denis C.
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- 2023
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4. Thresholding Gini variable importance with a single-trained random forest: An empirical Bayes approach
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Dunne, Robert, Reguant, Roc, Ramarao-Milne, Priya, Szul, Piotr, Sng, Letitia M.F., Lundberg, Mischa, Twine, Natalie A., and Bauer, Denis C.
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- 2023
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5. A metabolic associated fatty liver disease risk variant in MBOAT7 regulates toll like receptor induced outcomes
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Alharthi, Jawaher, Bayoumi, Ali, Thabet, Khaled, Pan, Ziyan, Gloss, Brian S., Latchoumanin, Olivier, Lundberg, Mischa, Twine, Natalie A., McLeod, Duncan, Alenizi, Shafi, Adams, Leon A., Weltman, Martin, Berg, Thomas, Liddle, Christopher, George, Jacob, and Eslam, Mohammed
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- 2022
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6. Data-driven platform for identifying variants of interest in COVID-19 virus
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Ramarao-Milne, Priya, Jain, Yatish, Sng, Letitia M.F., Hosking, Brendan, Lee, Carol, Bayat, Arash, Kuiper, Michael, Wilson, Laurence O.W., Twine, Natalie A., and Bauer, Denis C.
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- 2022
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7. Future-proofing genomic data and consent management: a comprehensive review of technology innovations
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Oliva, Adrien, primary, Kaphle, Anubhav, additional, Reguant, Roc, additional, Sng, Letitia M F, additional, Twine, Natalie A, additional, Malakar, Yuwan, additional, Wickramarachchi, Anuradha, additional, Keller, Marcel, additional, Ranbaduge, Thilina, additional, Chan, Eva K F, additional, Breen, James, additional, Buckberry, Sam, additional, Guennewig, Boris, additional, Haas, Matilda, additional, Brown, Alex, additional, Cowley, Mark J, additional, Thorne, Natalie, additional, Jain, Yatish, additional, and Bauer, Denis C, additional
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- 2024
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8. Fast and accurate exhaustive higher-order epistasis search with BitEpi
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Bayat, Arash, Hosking, Brendan, Jain, Yatish, Hosking, Cameron, Kodikara, Milindi, Reti, Daniel, Twine, Natalie A., and Bauer, Denis C.
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- 2021
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9. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
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Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
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- 2018
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10. Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases
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Henden, Lyndal, Twine, Natalie A., Szul, Piotr, McCann, Emily P., Nicholson, Garth A., Rowe, Dominic B., Kiernan, Matthew C., Bauer, Denis C., Blair, Ian P., and Williams, Kelly L.
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- 2020
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11. Neuropilin-1 drives tumor-specific uptake of chlorotoxin
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McGonigle, Sharon, Majumder, Utpal, Kolber-Simonds, Donna, Wu, Jiayi, Hart, Andrew, Noland, Thomas, TenDyke, Karen, Custar, Daniel, Li, Danyang, Du, Hong, Postema, Maarten H. D., Lai, W. George, Twine, Natalie C., Woodall-Jappe, Mary, and Nomoto, Kenichi
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- 2019
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12. Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia
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Malakar, Yuwan, primary, Lacey, Justine, additional, Twine, Natalie A., additional, McCrea, Rod, additional, and Bauer, Denis C., additional
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- 2023
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13. Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
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Oh Vic Shum, Bennett, Pretorius, Carel Jacobus, Min Fen Sng, Letitia, Henner, Ilya, Barahona, Paulette, Basar, Emre, McGill, Jim, Wilgen, Urs, Zournazi, Anna, Downie, Lilian, Taylor, Natalie, Cheney, Liam, Wu, Sylvania, Twine, Natalie Angela, Bauer, Denis Carolin, Watts, Gerald Francis, Navilebasappa, Akash, Kumar, Kishore Rajagopal, Ungerer, Jacobus Petrus Johannes, and Bennett, Glenn
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- 2023
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14. Applying a risk governance approach to examine how professionals perceive the benefits and risks of clinical genomics in Australian healthcare.
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Malakar, Yuwan, Lacey, Justine, Twine, Natalie A., and Bauer, Denis C.
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GENOMICS ,RESEARCH personnel ,RISK perception ,PROFESSIONAL employees ,SEMI-structured interviews - Abstract
Clinical genomics is a system of multiple stakeholders and institutions. Yet, studies focusing on the comparative perspectives of these stakeholders are limited. This study engages four groups of professionals (clinical geneticists, genetic counselors, laboratory professionals, and researchers) working in clinical genomics to investigate their perceptions of the benefits and risks of using genomics in Australian healthcare. The study is underpinned by a risk governance approach. For data collection, qualitative semi-structured interviews were used. Our results show that all professionals unanimously identified that the benefit of clinical genomics lies in improving health outcomes for patients. However, the risks associated with delivering this benefit differed by professional category. We found that the further the profession was from the patient (e.g. researcher) the narrower the perceived risks were amongst the individuals interviewed. However, "privacy" as a perceived risk was ranked highly by all professions indicating a shared desire for responsible data governance practices. [ABSTRACT FROM AUTHOR]
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- 2023
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15. Inhibitors of poly ADP-ribose polymerase (PARP) induce apoptosis of myeloid leukemic cells: potential for therapy of myeloid leukemia and myelodysplastic syndromes
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Gaymes, Terry J, primary, Shall, Sydney, additional, Macpherson, Lee J, additional, Twine, Natalie A, additional, Lea, Nicholas C, additional, Farzaneh, Farzin, additional, and Mufti, Ghulam J, additional
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- 2021
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16. Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis
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Fifita, Jennifer A., primary, Chan Moi Fat, Sandrine, additional, McCann, Emily P., additional, Williams, Kelly L., additional, Twine, Natalie A., additional, Bauer, Denis C., additional, Rowe, Dominic B., additional, Pamphlett, Roger, additional, Kiernan, Matthew C., additional, Tan, Vanessa X., additional, Blair, Ian P., additional, and Guillemin, Gilles J., additional
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- 2021
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17. Molecular Classification of Crohn's Disease and Ulcerative Colitis Patients Using Transcriptional Profiles in Peripheral Blood Mononuclear Cells
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Burczynski, Michael E., Peterson, Ron L., Twine, Natalie C., Zuberek, Krystyna A., Brodeur, Brendan J., Casciotti, Lori, Maganti, Vasu, Reddy, Padma S., Strahs, Andrew, Immermann, Fred, Spinelli, Walter, Schwertschlag, Ulrich, Slager, Anna M., Cotreau, Monette M., and Dorner, Andrew J.
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- 2006
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18. VariantSpark: Cloud-based machine learning for association study of complex phenotype and large-scale genomic data
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Bayat, Arash, primary, Szul, Piotr, additional, O’Brien, Aidan R, additional, Dunne, Robert, additional, Hosking, Brendan, additional, Jain, Yatish, additional, Hosking, Cameron, additional, Luo, Oscar J, additional, Twine, Natalie, additional, and Bauer, Denis C, additional
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- 2020
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19. Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
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McCann, Emily P, primary, Henden, Lyndal, additional, Fifita, Jennifer A, additional, Zhang, Katharine Y, additional, Grima, Natalie, additional, Bauer, Denis C, additional, Chan Moi Fat, Sandrine, additional, Twine, Natalie A, additional, Pamphlett, Roger, additional, Kiernan, Matthew C, additional, Rowe, Dominic B, additional, Williams, Kelly L, additional, and Blair, Ian P, additional
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- 2020
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20. BitEpi: A Fast and Accurate Exhaustive Higher-Order Epistasis Search
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Bayat, Arash, Hosking, Brendan, Jain, Yatish, Hosking, Cameron, Twine, Natalie, and Bauer, Denis C.
- Abstract
Motivation Higher-order epistatic interactions can be the driver for complex genetic diseases. An exhaustive search is the most accurate method for identifying interactive SNPs. While there is a fast bitwise algorithm for pairwise exhaustive searching (BOOST), higher-order exhaustive searching has yet to be efficiently optimized. Results In this paper, we introduce BitEpi, a program to detect and visualize higher-order epistatic interactions using an exhaustive search. BitEpi introduces a novel bitwise algorithm that can perform higher-order analysis more quickly and is the first bitwise algorithm to search for 4-SNP interactions. Furthermore, BitEpi increases detection accuracy by using a novel entropy-based power analysis. BitEpi visualizes significant interactions in a publication-ready interactive graph. BitEpi is 56 times faster than MDR for 4-SNP searching and is up to 1.33 and 2.09 times more accurate than BOOST and MPI3SNP respectively. Availability Codes and data are publicly available on GitHub https://github.com/aehrc/BitEpi . BitEpi is also available on CodeOcean https://doi.org/10.24433/CO.3671084.v1 . Contact: Arash.Bayat@csiro.au - Denis.Bauer@csiro.au Supplementary information Supplementary data are available at bioRxiv online.
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- 2019
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21. Additional file 1: of Neuropilin-1 drives tumor-specific uptake of chlorotoxin
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McGonigle, Sharon, Majumder, Utpal, Kolber-Simonds, Donna, Jiayi Wu, Hart, Andrew, Noland, Thomas, TenDyke, Karen, Custar, Daniel, Danyang Li, Du, Hong, Postema, Maarten, W. Lai, Twine, Natalie, Woodall-Jappe, Mary, and Nomoto, Kenichi
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endocrine system diseases ,digestive system diseases - Abstract
Figure S1. Structure of ER-472 PDC. Figure S2. Metabolism of ER-472 PDC in vivo. Figure S3. CLC-3, MMP2 and annexinA2 expression in MIA PaCa-2, BxPC-3 and PC-3 tumor lysates: lack of correlation with therapeutic activity. Figure S4. Knockout of NRP1 by gene editing in PC-3 tumor cells. Figure S5. NRP1 expression in human tumors, including glioblastoma. Figure S6. Neurotoxicity of Cltx peptides in crayfish bioactivity assay. Table S1. Cell growth inhibition by ER-472 in MIA PaCa-2, BxPC-3 and PC-3 cell lines in vitro. Table S2. Basal thiol levels in MIA PaCa-2, BxPC-3 and PC-3 tumor lysates. (DOCX 1260 kb)
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- 2019
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22. The −174G Allele of the Interleukin-6 Gene Confers Susceptibility to Systemic Arthritis in Children: A Multicenter Study Using Simplex and Multiplex Juvenile Idiopathic Arthritis Families
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Ogilvie, Emma M., Fife, Mark S., Thompson, Susan D., Twine, Natalie, Tsoras, Monica, Moroldo, Marta, Fisher, Sheila A., Lewis, Cathryn M., Prieur, Anne-Marie, Glass, David N., and Woo, Patricia
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- 2003
23. Molecular Phenotyping of Telomerized Human Bone Marrow Skeletal Stem Cells Reveals a Genetic Program of Enhanced Proliferation and Maintenance of Differentiation Responses
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Twine, Natalie A, Harkness, Linda, Adjaye, James, Aldahmash, Abdullah, Wilkins, Marc R, and Kassem, Moustapha
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BONE MARROW STROMAL (SKELETAL) STEM CELLS (hMSC) ,OSTEOBLASTS ,HMSC-TERT ,equipment and supplies ,MOLECULAR PHENOTYPE ,TELOMERIZATION - Abstract
Long-term in vitro expansion of bone marrow stromal (skeletal) stem cells (also known as human mesenchymal stem cells [hMSC]) is associated with replicative senescence and impaired functions. We have previously reported that telomerization of hMSC through hTERT overexpression led to bypassing a replicative senescence phenotype and improved in vitro and in vivo functions. However, the molecular consequence of telomerization is poorly characterized. Thus, we compared the molecular phenotype of a well-studied telomerized hMSC (hMSC-TERT) cell line with primary hMSC. At a cellular level, both cell populations exhibited strong concordance for the known hMSC CD markers, similar responses to osteoblast (OB) differentiation induction, and formed heterotopic bone in vivo. Overall gene expression was highly correlated between both cell types with an average Pearson's correlation coefficient (R2) between the gene expression of all primary hMSC and all hMSC-TERT samples of 0.95 (range 0.93-0.96). Quantitative analysis of gene expression of CD markers, OB cell markers, and transcription factors (TF) showed a high degree of similarity between the two cell populations (72%, 77%, and 81%, respectively). The hMSC-TERT population was enriched mainly for genes associated with cell cycle and cell cycle signaling when compared with primary hMSC. Other enrichment was observed for genes involved in cell adhesion and skeletal system development and immune response pathways. Interestingly, hMSC-TERT shared a telomerization signature with upregulation of cancer/testis antigens, MAGE, and PAGE genes. Our data demonstrate that the enhanced biological characteristics of hMSC after telomerization are mainly due to enhanced expression of cell proliferation genes, whereas gene expression responses to differentiation are maintained. © 2018 The Authors. JBMR Plus Published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research.
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- 2018
24. Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression
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Tarr, Ingrid S., primary, McCann, Emily P., additional, Benyamin, Beben, additional, Peters, Timothy J., additional, Twine, Natalie A., additional, Zhang, Katharine Y., additional, Zhao, Qiongyi, additional, Zhang, Zong-Hong, additional, Rowe, Dominic B., additional, Nicholson, Garth A., additional, Bauer, Denis, additional, Clark, Susan J., additional, Blair, Ian P., additional, and Williams, Kelly L., additional
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- 2019
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25. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
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Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
- Abstract
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
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- 2018
26. Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
- Author
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McCann, Emily P., Henden, Lyndal, Fifita, Jennifer A., Zhang, Katharine Y., Grima, Natalie, Bauer, Denis C., Moi Fat, Sandrine Chan, Twine, Natalie A., Pamphlett, Roger, Kiernan, Matthew C., Rowe, Dominic B., Williams, Kelly L., and Blair, Ian P.
- Abstract
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with phenotypic and genetic heterogeneity. Approximately 10% of cases are familial, while remaining cases are classified as sporadic. To date, >30 genes and several hundred genetic variants have been implicated in ALS. Methods Seven hundred and fifty-seven sporadic ALS cases were recruited from Australian neurology clinics. Detailed clinical data and whole genome sequencing (WGS) data were available from 567 and 616 cases, respectively, of which 426 cases had both datasets available. As part of a comprehensive genetic analysis, 853 genetic variants previously reported as ALS-linked mutations or disease-associated alleles were interrogated in sporadic ALS WGS data. Statistical analyses were performed to identify correlation between clinical variables, and between phenotype and the number of ALS-implicated variants carried by an individual. Relatedness between individuals carrying identical variants was assessed using identity-by-descent analysis. Results Forty-three ALS-implicated variants from 18 genes, including C9orf72, ATXN2, TARDBP, SOD1, SQSTM1 and SETX, were identified in Australian sporadic ALS cases. One-third of cases carried at least one variant and 6.82% carried two or more variants, implicating a potential oligogenic or polygenic basis of ALS. Relatedness was detected between two sporadic ALS cases carrying a SOD1 p.I114T mutation, and among three cases carrying a SQSTM1 p.K238E mutation. Oligogenic/polygenic sporadic ALS cases showed earlier age of onset than those with no reported variant. Conclusion We confirm phenotypic associations among ALS cases, and highlight the contribution of genetic variation to all forms of ALS. [ABSTRACT FROM AUTHOR]
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- 2021
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27. Molecular Phenotyping of Telomerized Human Bone Marrow Skeletal Stem Cells Reveals a Genetic Program of Enhanced Proliferation and Maintenance of Differentiation Responses
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Twine, Natalie A, primary, Harkness, Linda, additional, Adjaye, James, additional, Aldahmash, Abdullah, additional, Wilkins, Marc R, additional, and Kassem, Moustapha, additional
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- 2018
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28. EP4 Antagonism by E7046 diminishes Myeloid immunosuppression and synergizes with Treg-reducing IL-2-Diphtheria toxin fusion protein in restoring anti-tumor immunity
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Albu, Diana I., primary, Wang, Zichun, additional, Huang, Kuan-Chun, additional, Wu, Jiayi, additional, Twine, Natalie, additional, Leacu, Sarah, additional, Ingersoll, Christy, additional, Parent, Lana, additional, Lee, Winnie, additional, Liu, Diana, additional, Wright-Michaud, Renee, additional, Kumar, Namita, additional, Kuznetsov, Galina, additional, Chen, Qian, additional, Zheng, Wanjun, additional, Nomoto, Kenichi, additional, Woodall-Jappe, Mary, additional, and Bao, Xingfeng, additional
- Published
- 2017
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29. Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case–control study
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Bukulmez, Hulya, Fife, Mark, Tsoras, Monica, Thompson, Susan D, Twine, Natalie A, Woo, Patricia, Olson, Jane M, Elston, Robert C, Glass, David N, and Colbert, Robert A
- Subjects
musculoskeletal diseases ,Male ,Mutation, Missense ,Immunoglobulins ,Antiporters ,Linkage Disequilibrium ,White People ,Autoimmune Diseases ,transmission disequilibrium testing ,Cohort Studies ,tapasin ,juvenile rheumatoid arthritis ,Humans ,Point Mutation ,TPSN ,Genetic Predisposition to Disease ,skin and connective tissue diseases ,Child ,Alleles ,Polymorphism, Genetic ,Siblings ,association ,Membrane Transport Proteins ,Exons ,Arthritis, Juvenile ,Amino Acid Substitution ,Case-Control Studies ,Child, Preschool ,Chromosomes, Human, Pair 6 ,Female ,linkage ,Research Article - Abstract
Juvenile rheumatoid arthritis (JRA) comprises a group of chronic systemic inflammatory disorders that primarily affect joints and can cause long-term disability. JRA is likely to be a complex genetic trait, or a series of such traits, with both genetic and environmental factors contributing to the risk for developing the disease and to its progression. The HLA region on the short arm of chromosome 6 has been intensively evaluated for genetic contributors to JRA, and multiple associations, and more recently linkage, has been detected. Other genes involved in innate and acquired immunity also map to near the HLA cluster on 6p, and it is possible that variation within these genes also confers risk for developing JRA. We examined the TPSN gene, which encodes tapasin, an endoplasmic reticulum chaperone that is involved in antigen processing, to elucidate its involvement, if any, in JRA. We employed both a case-control approach and the transmission disequilibrium test, and found linkage and association between the TPSN allele (Arg260) and the systemic onset subtype of JRA. Two independent JRA cohorts were used, one recruited from the Rheumatology Clinic at Cincinnati Children's Hospital Medical Center (82 simplex families) and one collected by the British Paediatric Rheumatology Group in London, England (74 simplex families). The transmission disequilibrium test for these cohorts combined was statistically significant (chi2 = 4.2, one degree of freedom; P = 0.04). Linkage disequilibrium testing between the HLA alleles that are known to be associated with systemic onset JRA did not reveal linkage disequilibrium with the Arg260 allele, either in the Cincinnati systemic onset JRA cohort or in 113 Caucasian healthy individuals. These results suggest that there is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6.
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- 2005
30. Epigenetics of human T cells during the G0-G1 transition
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Smith, Alexander E., Chronis, Constantinos, Christodoulakis, Manolis, Orr, Stephen J., Lea, Nicholas C., Twine, Natalie A., Bhinge, Akshay, Mufti, Ghulam J., and Thomas, N. Shaun B.
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Epigenetic inheritance -- Analysis ,Methylation -- Analysis ,T cells -- Genetic aspects ,Genetic transcription -- Analysis ,Health - Published
- 2009
31. Transcription factor ZNF25 is associated with osteoblast differentiation of human skeletal stem cells
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Twine, Natalie A., primary, Harkness, Linda, additional, Kassem, Moustapha, additional, and Wilkins, Marc R., additional
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- 2016
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32. Systems analysis of human mesenchymal stem cells during differentiation into osteoblasts
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Wilkins, Marc, Biotechnology & Biomolecular Sciences, Faculty of Science, UNSW, Twine, Natalie, Biotechnology & Biomolecular Sciences, Faculty of Science, UNSW, Wilkins, Marc, Biotechnology & Biomolecular Sciences, Faculty of Science, UNSW, and Twine, Natalie, Biotechnology & Biomolecular Sciences, Faculty of Science, UNSW
- Abstract
To better understand human Mesenchymal Stem Cells (hMSCs) ex vivo and their use in therapy, we have studied the molecular phenotype of telomerised hMSC (hMSC-TERT) using four different approaches. Firstly, we used RNASeq to examine changes in expression for a set of skeletally-related genes during ex vivo osteoblast differentiation of hMSC-TERT. From this set, we propose a set of ex vivo differentiation-stage-specific and tissue specific markers (n=21). We also identified a subset of genes (n=20) to predict the bone forming capacity of hMSC and another set (n=20) associated with the ex vivo phenotype of hMSC obtained from osteoporotic patients. These results address the current lack of stage-specific osteoblastic markers available to the bone community. Secondly, we compared hMSC-TERT with primary hMSC using gene expression microarray analysis. We showed that CD markers, osteoblast markers and transcription factors had a high degree of similarity between the two cell populations. When compared quantitatively, some differences were observed. We also show that telomerisation of the hMSC resulted in functional enrichment of skeletal system development, cell cycle and immune response pathways. Our results show that telomerisation maintains the molecular phenotype of primary hMSCs and enhances certain characteristics for their clinical use. Thirdly, we combined gene expression microarrays, clustering with Self Organising Maps and literature analysis, to identify three novel osteogenic transcription factor candidates: ZNF25, ZNF608 and ZBTB38. Functional studies in vitro showed that of the three, ZNF25 had the most significant effect on osteoblast differentiation. siRNA knockdown experiments for ZNF25 in hMSC-TERT cells during osteoblast differentiation resulted in significant suppression of ALP activity and extracellular mineralized matrix formation. Our results indicate that ZNF25 is involved in matrix mineralisation and maturation process of OB cells.Finally, we combin
- Published
- 2015
33. Molecular characterisation of stromal populations derived from human embryonic stem cells: Similarities to immortalised bone marrow derived stromal stem cells
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Harkness, Linda, primary, Twine, Natalie A., additional, Abu Dawud, Raed, additional, Jafari, Abbas, additional, Aldahmash, Abdullah, additional, Wilkins, Marc R., additional, Adjaye, James, additional, and Kassem, Moustapha, additional
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- 2015
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34. Combination of EP4 antagonist and checkpoint inhibitors promotes anti-tumor effector T cells in preclinical tumor models
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Bao, Xingfeng, primary, Albu, Diana, additional, Huang, Kuan-Chun, additional, Wu, Jiayi, additional, Twine, Natalie, additional, Nomoto, Kenichi, additional, and Woodall-Jappe, Mary, additional
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- 2015
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35. E7449: A dual inhibitor of PARP1/2 and tankyrase1/2 inhibits growth of DNA repair deficient tumors and antagonizes Wnt signaling
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McGonigle, Sharon, primary, Chen, Zhihong, additional, Wu, Jiayi, additional, Chang, Paul, additional, Kolber-Simonds, Donna, additional, Ackermann, Karen, additional, Twine, Natalie C., additional, Shie, Jue-Lon, additional, Miu, Jingzang Tao, additional, Huang, Kuan-Chun, additional, Moniz, George A., additional, and Nomoto, Kenichi, additional
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- 2015
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36. Abstract P5-06-03: Combination of the PARP inhibitor E7449 with eribulin +/- carboplatin in preclinical models of triple negative breast cancer
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McGonigle, Sharon, primary, Wu, Jiayi, additional, Kolber-Simonds, Donna, additional, Twine, Natalie C, additional, Shie, Jue-lon, additional, Taylor, Noel, additional, Agoulnik, Sergei, additional, Dezso, Zoltan, additional, McGrath, Shannon, additional, Matijevic, Mark, additional, Xu, Shanqin, additional, Kuznetsov, Galina, additional, Woodall-Jappe, Mary, additional, and Nomoto, Kenichi, additional
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- 2015
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37. Identification of differentiation-stage specific markers that define the ex vivo osteoblastic phenotype
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Twine, Natalie A, Chen, Li, Pang, Chi N, Wilkins, Marc R, Kassem, Moustapha, Twine, Natalie A, Chen, Li, Pang, Chi N, Wilkins, Marc R, and Kassem, Moustapha
- Abstract
The phenotype of osteoblastic (OB) cells in culture is currently defined using a limited number of markers of low sensitivity and specificity. For the clinical use of human skeletal (stromal, mesenchymal) stem cells (hMSC) in therapy, there is also a need to identify a set of gene markers that predict in vivo bone forming capacity. Thus, we used RNA sequencing to examine changes in expression for a set of skeletally-related genes across 8 time points between 0 and 12days of ex vivo OB differentiation of hMSC. We identified 123 genes showing significant temporal expression change. Hierarchical clustering and Pearson's correlation generated 4 groups of genes: early stage differentiation genes (peak expression: 0-24h, n=28) which were enriched for extracellular matrix organisation, e.g. COL1A1, LOX, and SERPINH1; middle stage differentiating genes (peak expression days: 3 and 6, n=20) which were enriched for extracellular matrix/skeletal system development e.g. BMP4, CYP24A1, and TGFBR2; and late stage differentiation genes (peak expression days: 9 and 12, n=27) which were enriched for bone development/osteoblast differentiation, e.g. BMP2 and IGF2. In addition, we identified 13 genes with bimodal temporal expression (2 peaks of expression: days 0 and 12) including VEGFA, PDGFA and FGF2. We examined the specificity of the 123 genes' expression in skeletal tissues and thus propose a set of ex vivo differentiation-stage-specific markers (n=21). In an independent analysis, we identified a subset of genes (n=20, e.g. ELN, COL11A1, BMP4) to predict the bone forming capacity of hMSC and another set (n=20, e.g. IGF2, TGFB2, SMAD3) associated with the ex vivo phenotype of hMSC obtained from osteoporotic patients.
- Published
- 2014
38. Abstract 2733: Antitumor activity of the PARP inhibitor E7449 in Ewing's sarcoma
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McGonigle, Sharon, primary, Chen, Zhihong, additional, Miu, Jingzang Tao, additional, Huang, Kuan-Chun, additional, Kolber-Simonds, Donna, additional, Zhao, Nanding, additional, Twine, Natalie C., additional, Cao, Qiongfang, additional, Kuznetsov, Galina, additional, Xu, Shanqin, additional, and Nomoto, Kenichi, additional
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- 2014
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39. 454 pyrosequencing-based analysis of gene expression profiles in the amphipod Melita plumulosa: Transcriptome assembly and toxicant induced changes
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Hook, Sharon E., primary, Twine, Natalie A., additional, Simpson, Stuart L., additional, Spadaro, David A., additional, Moncuquet, Philippe, additional, and Wilkins, Marc R., additional
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- 2014
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40. Generation of Mice Deficient in both KLF3/BKLF and KLF8 Reveals a Genetic Interaction and a Role for These Factors in Embryonic Globin Gene Silencing
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Funnell, Alister P. W., primary, Mak, Ka Sin, additional, Twine, Natalie A., additional, Pelka, Gregory J., additional, Norton, Laura J., additional, Radziewic, Tania, additional, Power, Melinda, additional, Wilkins, Marc R., additional, Bell-Anderson, Kim S., additional, Fraser, Stuart T., additional, Perkins, Andrew C., additional, Tam, Patrick P., additional, Pearson, Richard C. M., additional, and Crossley, Merlin, additional
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- 2013
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41. Gene Expression Analyses Support Fallopian Tube Epithelium as the Cell of Origin of Epithelial Ovarian Cancer
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O'Shannessy, Daniel, primary, Jackson, Stephen, additional, Twine, Natalie, additional, Hoffman, Bryan, additional, Dezso, Zoltan, additional, Agoulnik, Sergei, additional, and Somers, Elizabeth, additional
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- 2013
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42. Abstract 899: Characterization and establishment of a drug-resistant human lung cancer model.
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Huang, Kuan-Chun, primary, Oestreicher, Judith, additional, Twine, Natalie, additional, Lee, Winnie, additional, Bao, Xingfeng, additional, Agoulnik, Sergei, additional, Littlefield, Bruce A., additional, Woodall-Jappe, Mary, additional, and Nomoto, Kenichi, additional
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- 2013
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43. The CACCC-Binding Protein KLF3/BKLF Represses a Subset of KLF1/EKLF Target Genes and Is Required for Proper Erythroid Maturation In Vivo
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Funnell, Alister P. W., primary, Norton, Laura J., additional, Mak, Ka Sin, additional, Burdach, Jon, additional, Artuz, Crisbel M., additional, Twine, Natalie A., additional, Wilkins, Marc R., additional, Power, Carl A., additional, Hung, Tzong-Tyng, additional, Perdomo, José, additional, Koh, Philip, additional, Bell-Anderson, Kim S., additional, Orkin, Stuart H., additional, Fraser, Stuart T., additional, Perkins, Andrew C., additional, Pearson, Richard C. M., additional, and Crossley, Merlin, additional
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- 2012
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44. Whole Transcriptome Sequencing Reveals Gene Expression and Splicing Differences in Brain Regions Affected by Alzheimer's Disease
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Twine, Natalie A., primary, Janitz, Karolina, additional, Wilkins, Marc R., additional, and Janitz, Michal, additional
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- 2011
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45. Epigenetics of human T cells during the G0→G1 transition
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Smith, Alexander E., primary, Chronis, Constantinos, additional, Christodoulakis, Manolis, additional, Orr, Stephen J., additional, Lea, Nicholas C., additional, Twine, Natalie A., additional, Bhinge, Akshay, additional, Mufti, Ghulam J., additional, and Thomas, N. Shaun B., additional
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- 2009
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46. Potent in vitro and in vivo anticancer activities of des-methyl, des-amino pateamine A, a synthetic analogue of marine natural product pateamine A
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Kuznetsov, Galina, primary, Xu, Qunli, additional, Rudolph-Owen, Lori, additional, TenDyke, Karen, additional, Liu, Junke, additional, Towle, Murray, additional, Zhao, Nanding, additional, Marsh, Joanne, additional, Agoulnik, Sergei, additional, Twine, Natalie, additional, Parent, Lana, additional, Chen, Zhihong, additional, Shie, Jue-Lon, additional, Jiang, Yimin, additional, Zhang, Huiming, additional, Du, Hong, additional, Boivin, Roch, additional, Wang, Yuan, additional, Romo, Daniel, additional, and Littlefield, Bruce A., additional
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- 2009
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47. MicroRNA Expression Profiling of High and Low Risk MDS
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Gaken, Joop, primary, Mohamedali, Azim M, additional, Twine, Natalie, additional, Westwood, Nigel, additional, Czepulkowski, Barbara, additional, Chehade, Saousan, additional, Quek, Lynn S, additional, Lea, Nicholas, additional, and Mufti, Ghulam J, additional
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- 2008
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48. High Resolution Genomic Mapping of Breast Cancer Derived T-MDS/TAML
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Mohamedali, Azim M, primary, Twine, Natalie, primary, Gaken, Joop, primary, Westwood, Nigel, primary, Lea, Nicholas, primary, Chelliah, Rajani, primary, Haase, Detlef, primary, and Mufti, Ghulam J, primary
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- 2008
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49. High Resolution Molecular Analysis of 5q- Syndrome Patients at Diagnosis and Following Lenalidomide Therapy
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Mohamedali, Azim M, primary, Lea, Nicholas, primary, Twine, Natalie, primary, Gaken, Joop, primary, Chelliah, Rajani, primary, Westwood, Nigel, primary, and Mufti, Ghulam J, primary
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- 2008
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50. Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes
- Author
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Mohamedali, Azim, primary, Gäken, Joop, additional, Twine, Natalie A., additional, Ingram, Wendy, additional, Westwood, Nigel, additional, Lea, Nicholas C., additional, Hayden, Janet, additional, Donaldson, Nora, additional, Aul, Carlo, additional, Gattermann, Norbert, additional, Giagounidis, Aristotle, additional, Germing, Ulrich, additional, List, Alan F., additional, and Mufti, Ghulam J., additional
- Published
- 2007
- Full Text
- View/download PDF
Catalog
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