8 results on '"Roberts, Lisa"'
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2. APPENDIX_A – Supplemental material for African Immigrant Health: Prostate Cancer Attitudes, Perceptions, and Barriers
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Nipher Malika, Oyinkansola Ogundimu, Roberts, Lisa, Alemi, Qais, Casiano, Carlos, and Montgomery, Susanne
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111099 Nursing not elsewhere classified ,111708 Health and Community Services ,111799 Public Health and Health Services not elsewhere classified ,FOS: Health sciences - Abstract
Supplemental material, APPENDIX_A for African Immigrant Health: Prostate Cancer Attitudes, Perceptions, and Barriers by Nipher Malika, Oyinkansola Ogundimu, Lisa Roberts, Qais Alemi, Carlos Casiano and Susanne Montgomery in American Journal of Men’s Health
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- 2020
- Full Text
- View/download PDF
3. Feline Calicivirus Infection Disrupts Assembly of Cytoplasmic Stress Granules and Induces G3BP1 Cleavage
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Humoud, Majid N, Doyle, Nicole, Royall, Elizabeth, Willcocks, Margaret M, Sorgeloos, Frederic, van Kuppeveld, Frank, Roberts, Lisa O, Goodfellow, Ian G, Langereis, Martijn A, Locker, Nicolas, LS Virologie, dI&I I&I-1, Infection & Immunity, Sorgeloos, Frederic [0000-0002-6492-8524], Goodfellow, Ian [0000-0002-9483-510X], and Apollo - University of Cambridge Repository
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0301 basic medicine ,Viral protein ,viruses ,Eukaryotic Initiation Factor-2 ,Immunology ,ved/biology.organism_classification_rank.species ,Coronacrisis-Taverne ,Cellular Response to Infection ,Cytoplasmic Granules ,Virus Replication ,Cleavage (embryo) ,medicine.disease_cause ,Microbiology ,Viral Proteins ,03 medical and health sciences ,Stress granule ,Virology ,Eukaryotic initiation factor ,medicine ,Animals ,Humans ,Phosphorylation ,Poly-ADP-Ribose Binding Proteins ,Caliciviridae Infections ,Feline calicivirus ,biology ,ved/biology ,3C Viral Proteases ,DNA Helicases ,biology.organism_classification ,Caliciviridae ,3. Good health ,Cell biology ,Cysteine Endopeptidases ,RNA Recognition Motif Proteins ,030104 developmental biology ,Viral replication ,Insect Science ,Host-Pathogen Interactions ,Cats ,Mitogen-Activated Protein Kinases ,Carrier Proteins ,RNA Helicases ,Calicivirus, Feline ,HeLa Cells ,Murine norovirus - Abstract
In response to stress such as virus infection, cells can stall translation by storing mRNAs away in cellular compartments called stress granules (SGs). This defense mechanism favors cell survival by limiting the use of energy and nutrients until the stress is resolved. In some cases it may also block viral propagation as viruses are dependent on the host cell resources to produce viral proteins. Human norovirus is a member of the Caliciviridae family responsible for gastroenteritis outbreaks worldwide. Previous studies on caliciviruses have identified mechanisms by which they can usurp the host translational machinery, using the viral protein genome-linked VPg, or regulate host protein synthesis through the mitogen-activated protein kinase (MAPK) pathway. Here, we examined the effect of feline calicivirus (FCV) infection on SG accumulation. We show that FCV infection impairs the assembly of SGs despite an increased phosphorylation of eukaryotic initiation factor eIF2α, a hallmark of stress pathway activation. Furthermore, SGs did not accumulate in FCV-infected cells that were stressed with arsenite or hydrogen peroxide. FCV infection resulted in the cleavage of the SG-nucleating protein Ras-GTPase activating SH3 domain-binding protein (G3BP1), which is mediated by the viral 3C-like proteinase NS6 Pro . Using mutational analysis, we identified the FCV-induced cleavage site within G3BP1, which differs from the poliovirus 3C proteinase cleavage site previously identified. Finally, we showed that NS6 Pro -mediated G3BP1 cleavage impairs SG assembly. In contrast, murine norovirus (MNV) infection did not impact arsenite-induced SG assembly or G3BP1 integrity, suggesting that related caliciviruses have distinct effects on the stress response pathway. IMPORTANCE Human noroviruses are a major cause of viral gastroenteritis, and it is important to understand how they interact with the infected host cell. Feline calicivirus (FCV) and murine norovirus (MNV) are used as models to understand norovirus biology. Recent studies have suggested that the assembly of stress granules is central in orchestrating stress and antiviral responses to restrict viral replication. Overall, our study provides the first insight on how caliciviruses impair stress granule assembly by targeting the nucleating factor G3BP1 via the viral proteinase NS6 Pro . This work provides new insights into host-pathogen interactions that regulate stress pathways during FCV infection.
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- 2016
- Full Text
- View/download PDF
4. Antarctic animation: gestures and lines describe a changing environment
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Roberts, Lisa
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Dance ,Gesture ,Improvisation ,Drawing ,Perceptions ,Climate change ,Antarctica ,Animation - Abstract
The need to engage the public with accurate information about climate change is urgent. Antarctica has become the focus of research for scientists and artists who seek to understand the complex forces at work. Different perceptions of Antarctica are surveyed. These perceptions are expressed through data sets, art works, dances, words, tones of voice and gestures. An iconography of primal gestural forms is identified that has been used since pre-history to make visible expressions of connection to the natural world. The primary research methodology is practice-based. Interviews with expeditioners, online responses and improvised movement workshops are used as sources for animations and art works. Animated forms arise from circling, spiraling, and crossing gestures. These ancient choreographies describe the dynamic structures that shape the Antarctic ecosystem and reflect structures within the body through which they are generated. Animations are presented at international conferences and exhibitions of Antarctic arts and sciences. An online log is used to display the animations and invite responses. The responses are evaluated. Archetypal gestural forms are found to expand the meaning of climate change data. Recognition of these primal forms (as body knowledge) is found to add a dimension of meaning to scientific information that is an essential component of accurate communication.
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- 2010
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- View/download PDF
5. ECONOMIC VALUATION OF SOME WETLAND OUTPUTS OF MUD LAKE, MINNESOTA-SOUTH DAKOTA
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Roberts, Lisa A. and Leitch, Jay A.
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wetland, outputs, economic valuation, flood control, water supply, water quality, recreation, aesthetics, fish/wildlife habitat, contingent valuation method, Resource /Energy Economics and Policy, Land Economics/Use - Abstract
The objective of this study was to estimate some economic values of Mud Lake, a managed, lacustrine wetland on the Minnesota-South Dakota border. Several outputs of Mud Lake were identified and an economic value was estimated for each. Flood control was valued at approximately $440 per acre, based on dollar damages prevented; water supply, using public utility revenues, was valued at $94 per acre; fish/wildlife habitat, recreation, and aesthetics were valued at about $21 per acre using the Contingent Valuation Method; and corrective expenditures were used to evaluate water quality at a negative per acre value of $180. When capitalized at 6 percent, the estimated total annual value of these four outputs is $6,250 per acre. These values can assist managers and policy makers in making decisions regarding the opportunity costs of Mud Lake management options or of wetland alterations or preservation. These snapshot values of Mud Lake "at the margin" are estimated under the assumption that all other wetlands and water resources in the region are unchanged.
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- 1997
6. Feline Calicivirus Infection Disrupts Assembly of Cytoplasmic Stress Granules and Induces G3BP1 Cleavage
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Humoud, Majid N, Doyle, Nicole, Royall, Elizabeth, Willcocks, Margaret M, Sorgeloos, Frederic, Van Kuppeveld, Frank, Roberts, Lisa O, Goodfellow, Ian G, Langereis, Martijn A, and Locker, Nicolas
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viruses ,Eukaryotic Initiation Factor-2 ,3C Viral Proteases ,DNA Helicases ,Cytoplasmic Granules ,Virus Replication ,3. Good health ,Cysteine Endopeptidases ,Viral Proteins ,RNA Recognition Motif Proteins ,Host-Pathogen Interactions ,Cats ,Animals ,Humans ,Mitogen-Activated Protein Kinases ,Phosphorylation ,Carrier Proteins ,Poly-ADP-Ribose Binding Proteins ,RNA Helicases ,Caliciviridae Infections ,Calicivirus, Feline ,HeLa Cells - Abstract
UNLABELLED: In response to stress such as virus infection, cells can stall translation by storing mRNAs away in cellular compartments called stress granules (SGs). This defense mechanism favors cell survival by limiting the use of energy and nutrients until the stress is resolved. In some cases it may also block viral propagation as viruses are dependent on the host cell resources to produce viral proteins. Human norovirus is a member of the Caliciviridae family responsible for gastroenteritis outbreaks worldwide. Previous studies on caliciviruses have identified mechanisms by which they can usurp the host translational machinery, using the viral protein genome-linked VPg, or regulate host protein synthesis through the mitogen-activated protein kinase (MAPK) pathway. Here, we examined the effect of feline calicivirus (FCV) infection on SG accumulation. We show that FCV infection impairs the assembly of SGs despite an increased phosphorylation of eukaryotic initiation factor eIF2α, a hallmark of stress pathway activation. Furthermore, SGs did not accumulate in FCV-infected cells that were stressed with arsenite or hydrogen peroxide. FCV infection resulted in the cleavage of the SG-nucleating protein Ras-GTPase activating SH3 domain-binding protein (G3BP1), which is mediated by the viral 3C-like proteinase NS6(Pro) Using mutational analysis, we identified the FCV-induced cleavage site within G3BP1, which differs from the poliovirus 3C proteinase cleavage site previously identified. Finally, we showed that NS6(Pro)-mediated G3BP1 cleavage impairs SG assembly. In contrast, murine norovirus (MNV) infection did not impact arsenite-induced SG assembly or G3BP1 integrity, suggesting that related caliciviruses have distinct effects on the stress response pathway. IMPORTANCE: Human noroviruses are a major cause of viral gastroenteritis, and it is important to understand how they interact with the infected host cell. Feline calicivirus (FCV) and murine norovirus (MNV) are used as models to understand norovirus biology. Recent studies have suggested that the assembly of stress granules is central in orchestrating stress and antiviral responses to restrict viral replication. Overall, our study provides the first insight on how caliciviruses impair stress granule assembly by targeting the nucleating factor G3BP1 via the viral proteinase NS6(Pro) This work provides new insights into host-pathogen interactions that regulate stress pathways during FCV infection.
7. World Congress Integrative Medicine & Health 2017: Part one : Berlin, Germany. 3-5 May 2017
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Brinkhaus, Benno, Falkenberg, Torkel, Haramati, Aviad, Willich, Stefan N., Briggs, Josephine P., Willcox, Merlin, Linde, Klaus, Theorell, Töres, Wong, Lisa M., Dusek, Jeffrey, Wu, Darong, Eisenberg, David, Berger, Bettina, Kemper, Kathi, Stock-Schröer, Beate, Sützl-Klein, Hedda, Ferreri, Rosaria, Kaplan, Gary, Matthes, Harald, Rotter, Gabriele, Schiff, Elad, Arnon, Zahi, Hahn, Eckhard, Luberto, Christina M., Martin, David, Schwarz, Silke, Tauschel, Diethard, Flower, Andrew, Gramminger, Harsha, Gupta, Hedwig H., Gupta, S. N., Kerckhoff, Annette, Kessler, Christian S., Michalsen, Andreas, Kim, Eun S., Jang, Eun H., Kim, Rana, Jan, Sae B., Mittwede, Martin, Mohme, Wiebke, Ben-Arye, Eran, Bonucci, Massimo, Saad, Bashar, Breitkreuz, Thomas, Rossi, Elio, Kebudi, Rejin, Daher, Michel, Razaq, Samaher, Gafer, Nahla, Nimri, Omar, Hablas, Mohamed, Kienle, Gunver Sophia, Samuels, Noah, Silbermann, Michael, B, Elin, Lena, Lang, Anna-Lena, Wartner, Eva, Holtermann, Christoph, Binstock, Maxwell, Riebau, Robert, Mujkanovic, Edin, Cramer, Holger, Lauche, Romy, Michalsen, Andres, Ward, Lesley, Irnich, Dominik, Stör, Wolfram, Burnstock, Geoffrey, Schaible, Hans-Georg, Ots, Thomas, Langhorst, Jost, Sundberg, Tobias, Amarell, Catherina, Anheyer, Melanie, Eckert, Marion, Ogal, Mercedes, Schönauer, Annette, Reisenberger, Birgit, Bernhard, Dennis Anheyer, Dobos, Gustav, Kroez, Matthias, Ammendola, Aldo, Mao, Jun J., Witt, Claudia, Yang, Yufei, Oritz, Miriam, Horneber, Markus, Voiß, Petra, Rosenstiel, Alex, Amarell, Catharina, Schad, Friedemann, Schläppi, Marc, Kröz, Matthias, Büssing, Arndt, Bar-Sela, Gil, Avshalomov, David, Attias, Samuel, Cotton, Sian, Jong, Miek, Jong, Mats, Scheffer, Christian, Edelhäuser, Friedrich, Albedah, Abdullah, Lee, Myeong Soo, Khalil, Mohamed, Ogawa, Keiko, Motoo, Yoshiharu, Arimitsu, Junsuke, Ogawa, Masao, Shimizu, Genki, Stange, Rainer, Kraft, Karin, Kuchta, Kenny, Watanabe, Kenji, Bonin, D., Gruber, Harald, Koch, Sabine, Pohlmann, Urs, Caldwell, Christine, Krantz, Barbara, Kortum, Ria, Martin, Lily, Wiel, Lisa S., Kligler, Ben, Gould-Fogerite, Susan, Zhang, Yuqing, Riva, John J., Lumpkin, Michael, Ratner, Emily, Ping, Liu, Jian, Pei, Hamme, Gesa-Meyer, Mao, Xiaosong, Chouping, Han, Schröder, Sven, Hummelsberger, Josef, Wullinger, Michael, Brodzky, Marc, Zalpour, Christoff, Langley, Julia, Weber, Wendy, Mudd, Lanay M., Wayne, Peter, Witt, Clauda, Weidenhammer, Wolfgang, Fønnebø, Vinjar, Boon, Heather, Steel, Amie, Bugarcic, Andrea, Rangitakatu, Melisa, Adams, Jon, Sibbritt, David, Wardle, Jon, Leach, Matthew, Schloss, Janet, Dieze, Helene, Ijaz, Nadine, Heinrich, Michael, Lewith, George, Graz, Bertr, Adam, Daniela, Grabenhenrich, Linus, Ortiz, Miriam, Binting, Sylvia, Reinhold, Thomas, Andermo, Susanne, Nordberg, Johanna Hök, Arman, Maria, Bhasin, Manoj, Fan, Xueyi, Libermann, Towia, Fricchione, Gregory, Denninger, John, Benson, Herbert, Martin, David D., Boers, Inge, Vlieger, Arine, Teut, Michael, Ullmann, Alex, Lotz, Fabian, Roll, Stephanie, Canella, Claudia, Mikolasek, Michael, Rostock, Matthias, Beyer, Jörg, Guckenberger, Matthias, Jenewein, Josef, Linka, Esther, Six, Claudia, Stoll, Sarah, Stupp, Roger, Witt, Claudia M., Chuang, Elisabeth, Mckee, Melissa D., Klose, Petra, Lange, Silke, Chung, Vincent C. H., Wong, Hoi L. C., Wu, Xin Y., Wen, Grace Y. G., Ho, Robin S. T., Ching, Jessica Y. L., Wu, Justin C. Y., Coakley, Am, a, Flanagan, Jane, Annese, Christine, Empoliti, Joanne, Gao, Zishan, Liu, Xugang, Yu, Shuguang, Yan, Xianzhong, Liang, Fanrong, Hohmann, Christoph D., Steckhan, Nico, Ostermann, Thomas, Paetow, Arion, Hoff, Evelyn, Hu, Xiao-Yang, Wu, Ruo-Han, Logue, Martin, Blonde, Clara, Lai, Lily Y., Stuart, Beth, Fei, Yu-Tong, Moore, Michael, Liu, Jian-Ping, Jeitler, Michael, Zillgen, Hannah, Högl, Manuel, Stöckigt, Barbara, Seifert, Georg, Kessler, Christian, Khadivzadeh, Talat, Bashtian, Maryam Hassanzadeh, Aval, Shapour Badiee, Esmaily, Habibollah, Kim, Jihye, Kim, Keun H., Klocke, Carina, Joos, Stefanie, Koshak, Abdulrahman, Wie, Li, Koshak, Emad, Wali, Siraj, Alamoudi, Omer, Demerdash, Abdulrahman, Qutub, Majdy, Pushparaj, Peter, Kruse, Sigrid, Fischer, Isabell, Tremel, Nadine, Rosenecker, Joseph, Leung, Brenda, Takeda, Wendy, Liang, Ning, Feng, Xue, Cao, Hui-Juan, Shinday, Nina, Philpotts, Lisa, Park, Elyse, Fricchione, Gregory L., Yeh, Gloria, Munk, Niki, Zakeresfahani, Arash, Foote, Trevor R., Ralston, Rick, Boulanger, Karen, Özbe, Dominik, Gräßel, Elmar, Luttenberger, Katharina, Pendergrass, Anna, Pach, Daniel, Bellmann-Strobl, Judit, Chang, Yinhui, Pasura, Laura, Liu, Bin, Jäger, Sven F., Loerch, Ronny, Jin, Li, Icke, Katja, Shi, Xuemin, Paul, Friedemann, Rütz, Michaela, Lynen, Andreas, Schömitz, Meike, Vahle, Maik, Salomon, Nir, Lang, Alon, Lahat, Adi, Kopylov, Uri, Ben-Horin, Shomron, Har-Noi, Ofir, Avidan, Benjamin, Elyakim, Rami, Gamus, Dorit, Ng, Siew, Chang, Jessica, Wu, Justin, Kaimiklotis, John, Schumann, Dania, Buttó, Ludovica, Haller, Dirk, Smith, Caroline, Lacey, Sheryl, Chapman, Michael, Ratcliffe, Julie, Johnson, Neil, Lyttleton, Jane, Boothroyd, Clare, Fahey, Paul, Tjaden, Bram, Vliet, Marja, Wietmarschen, Herman, Tröger, Wilfried, Vuolanto, Pia, Aarva, Paulina, Sorsa, Minna, Helin, Kaija, Wenzel, Claudia, Zoderer, Iris, Pammer, Patricia, Simon, Patrick, Tucek, Gerhard, Wode, Kathrin, Henriksson, Roger, Sharp, Lena, Stoltenberg, Anna, Xiao-Ying, Yang, Wang, Li-Qiong, Li, Jin-Gen, Wang, Ying, Balneaves, Lynda, Capler, Rielle, Bocci, Chiara, Guffi, Marta, Paolini, Marina, Meaglia, Ilaria, Porcu, Patrizia, Ivaldi, Giovanni B., Dragan, Simona, Bucuras, Petru, Pah, Ana M., Badalica-Petrescu, Marius, Buleu, Florina, Hogea-Stoichescu, Gheorghe, Christodorescu, Rux, Kao, Lan, Cho, Yumin, Klafke, Nadja, Mahler, Cornelia, Hagens, Cornelia, Uhlmann, Lorenz, Bentner, Martina, Schneeweiss, Andreas, Mueller, Andreas, Szecsenyi, Joachim, Neri, Isabella, Schnabel, Katharina, Cree, Margit, Suhr, Ralf, Baccetti, Sonia, Firenzuoli, Fabio, Monechi, Maria V., Di Stefano, Mariella, Amunni, Gianni, Wong, Wendy, Chen, Bingzhong, Amri, Hakima, Kotlyanskaya, Lucy, Anderson, Belinda, Evans, Roni, Marantz, Paul, Bradley, Ryan, Booth-Laforce, Cathryn, Zwickey, Heather, Kligler, Benjamin, Brooks, Audrey, Kreitzer, Mary J., Lebensohn, Patricia, Goldblatt, Elisabeth, Esmel-Esmel, Neus, Jiménez-Herrera, Maria, Jocham, Alex, Berberat, Pascal O., Schneider, Antonius, Masetti, Morgana, Murakozy, Henriette, Agdal, Rita, Atarzadeh, Fatemeh, Jaladat, Amir M., Hoseini, Leila, Amini, Fatemeh, Bai, Chen, Liu, Tiegang, Zheng, Zian, Wan, Yuxiang, Xu, Jingnan, Wang, Xuan, Yu, He, Gu, Xiaohong, Daneshfard, Babak, Nimrouzi, Majid, Tafazoli, Vahid, Alorizi, Seyed M. Emami, Saghebi, Seyed A., Fattahi, Mohammad R., Salehi, Alireza, Rezaeizadeh, Hossein, Zarshenas, Mohammad M., Fox, Kealoha, Hughes, John, Kostanjsek, Nenad, Espinosa, Stéphane, Fisher, Peter, Latif, Abdul, Lefeber, Donald, Paske, William, Öztürk, Ali Ö, Öztürk, Gizemnur, Tissing, Wim, Naafs, Marianne, Busch, Martine, Sanaye, Mohammad R., Dräger, Kilian, Leininger, Brent, Shafto, Kate, Breen, Jenny, Simões-Wüst, Ana P., Moltó-Puigmartí, Carolina, Dongen, Martien, Dagnelie, Pieter, Thijs, Carel, White, Shelley, Wiesener, Solveig, Salamonsen, Anita, Stub, Trine, Abanades, Sergio, Blanco, Mar, Masllorens, Laia, Sala, Roser, Al-Ahnoumy, Shafekah, Han, Dongwoon, He, Luzhu, Kim, Ha Yun, In Choi, Da, Alræk, Terje, Kristoffersen, Agnete, Sceidt, Christel, Bruset, Stig, Musial, Frauke, Anheyer, Dennis, Saha, Felix J., Haller, Heidemarie, Azizi, Hoda, Khadem, Nayereh, Hassanzadeh, Malihe, Estiri, Nazanin, Azizi, Hamideh, Tavassoli, Fatemeh, Lotfalizadeh, Marzieh, Zabihi, Reza, Shabestari, Mahmoud Mohammadzadeh, Paeizi, Reza, Azari, Masoumeh Alv, i, Bahrami-Taghanaki, Hamidreza, Baars, Erik, Bruin, Anja, Ponstein, Anne, Segantini, Sergio, Monechi, Maria Valeria, Voller, Fabio, Barth, Jürgen, Kern, Alex, Lüthi, Sebastian, Zieger, Anja, Otto, Fabius, Beccia, Ariel, Dunlap, Corina, Courneene, Brendan, Bedregal, Paula, Passi, Alvaro, Rodríguez, Alfredo, Chang, Mayling, Gutiérrez, Soledad, Beissner, Florian, Preibisch, Christine, Schweizer-Arau, Annemarie, Popovici, Roxana, Meissner, Karin, Beljanski, Sylvie, Bell, Laura, Rivera-Reyes, Laura, Hwang, Ula, Sethe, Dominik, Hilgard, Dörte, Heusser, Peter, Bishop, Felicity, Al-Abbadey, Miznah, Bradbury, Katherine, Carnes, Dawn, Dimitrov, Borislav, Fawkes, Carol, Foster, Jo, Macpherson, Hugh, Roberts, Lisa, Yardley, Lucy, Holmes, Michelle, Little, Paul, Cooper, Cyrus, Bogani, Patrizia, Maggini, Valentina, Gallo, Eugenia, Miceli, Elisangela, Biffi, Sauro, Mengoni, Alessio, Fani, Renato, S-Guendling, Nadine, Guendling, Peter W., Bronfort, Gert, Haas, Mitch, Schulz, Craig, Bu, Xiangwei, Wang, J., Fang, T., Shen, Z., He, Y., Zhang, X., Zhang, Zhengju, Wang, Dali, Meng, Fengxian, Baumann, Klaus, Frick, Eckhard, Jacobs, Christoph, Grünther, Ralph-Achim, Lötzke, Désirée, Jung, Sonny, Recchia, Daniela R., Robens, Sibylle, Stankewitz, Josephin, Jeitler, Mika, Cheon, Chunhoo, Jang, Bo H., Ko, Seong G., Huang, Ching W., Sasaki, Yui, Ko, Youme, Cheshire, Anna, Ridge, Damien, Peters, David, Panagioti, Maria, Simon, Chantal, Cho, Hyun J., Choi, Soo J., Jung, Young S., Im, Hyea B., Cooley, Kieran, Tummon-Simmons, Laura, Wasson, Rachel, Kraemer, Kristen, Sears, Richard, Hueber, Carly, Derk, Gwendolyn, Lill, Jr, An, Ruopeng, Steinberg, Lois, Rodriguez, Lourdes Diaz, La Fuente, Francisca García-De, La Vega, Miguel, Vargas-Román, Keyla, Fernández-Ruiz, Jonatan, Cantarero-Villanueva, Irene, García-De La Fuente, Francisca, Jiménez-Guerrero, Fanny, Galiano-Castillo, Noelia, Diaz-Saez, Gualberto, Torres-Jimenez, José I., Garcia-Gomez, Olga, Hortal-Muñoz, Luis, Diaz-Diez, Camino, Dicen, Demijon, Diezel, Helene, Frawley, Jane, Broom, Alex, Dong, Fei, Ma, Xueyan, Yan, Liyi, Wu, Liqun, Ma, Jiaju, Zhen, Jianhua, Dubois, Julie, Rodondi, Pierre-Yves, Schwartze, Sophia, Trapp, Barbara, and Cysarz, Dirk
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0106 biological sciences ,0301 basic medicine ,medicine.medical_specialty ,business.industry ,Alternative medicine ,General Medicine ,01 natural sciences ,03 medical and health sciences ,030104 developmental biology ,Complementary and alternative medicine ,Family medicine ,medicine ,Integrative medicine ,business ,010606 plant biology & botany
8. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin, Ophthalmology, ANS - Complex Trait Genetics, Khan, Mubeen, Cornelis, Stéphanie S, Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H, Mishra, Ketan, Bults, Femke, Alswaiti, Yahya, Altalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J F, van den Born, L Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B, Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M, Hoischen, Alexander, Hoyng, Carel B, Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C W, Kousal, Bohdan, Lamey, Tina M, Macdonald, Ian M, Matynia, Anna, Mclaren, Terri L, Mena, Marcela D, Meunier, Isabelle, Miller, Rianne, Newman, Hada, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L, Puech, Bernard, Ramesar, Raj, Rüther, Klau, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloe, Szaflik, Jacek P, Thompson, Jennifer A, Thuillier, Caroline, Tracewska, Anna M, van Zweeden, Martine, Vincent, Andrea L, Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H F, Dhaenens, Claire-Marie, and Cremers, Frans P M
- Subjects
DEEP-INTRONIC VARIANTS ,Proband ,smMIP ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,ABCA4 ,RPE65 ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Macular Degeneration ,Exon ,0302 clinical medicine ,Missing heritability problem ,purl.org/becyt/ford/3.2 [https] ,Medicine and Health Sciences ,smMIPs ,MUTATION ,Genetics (clinical) ,Genetics ,variants ,0303 health sciences ,structural ,biology ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,Genomics ,DYSTROPHY ,Pedigree ,3. Good health ,Stargardt disease ,MATERNAL UNIPARENTAL ISODISOMY ,purl.org/becyt/ford/3 [https] ,RETINAL ,CHROMOSOME-1 ,PATIENT ,STRUCTURAL VARIANTS ,Deep sequencing ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,deep-intronic variants ,REVEALS ,medicine ,Humans ,030304 developmental biology ,REPAIR ,deep-intronic variant ,structural variants ,medicine.disease ,GENE ,Introns ,Uniparental Isodisomy ,Mutation ,030221 ophthalmology & optometry ,biology.protein ,ATP-Binding Cassette Transporters ,Transcriptome - Abstract
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. Methods: Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inversion probes (smMIPs), based on a semiautomated and cost-effective method. Structural variants (SVs) were identified using relative read coverage analyses and putative splice defects were studied using in vitro assays. Results: In 448 biallelic probands 14 known and 13 novel deep-intronic variants were found, resulting in pseudoexon (PE) insertions or exon elongations in 105 alleles. Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions and flanking exon deletions. Eleven distinct large deletions were found, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. Conclusion: Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases. Fil: Khan, Mubeen. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Cornelis, Stéphanie S.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Del Pozo Valero, Marta. Hospital Universitario Fundación Jiménez Díaz; España. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Whelan, Laura. Trinity College; Estados Unidos Fil: Runhart, Esmee H.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Mishra, Ketan. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Bults, Femke. Radboud University Nijmegen Medical Centre; Países Bajos Fil: AlSwaiti, Yahya. St John of Jerusalem Eye Hospital Group; Palestina (ANP) Fil: AlTalbishi, Alaa. St John of Jerusalem Eye Hospital Group; Palestina (ANP) Fil: De Baere, Elfride. University of Ghent; Bélgica Fil: Banfi, Sandro. Seconda Universita Degli Studi Di Napoli; Italia Fil: Banin, Eyal. The Hebrew University of Jerusalem; Israel Fil: Bauwens, Miriam. University of Ghent; Bélgica Fil: Ben Yosef, Tamar. The Ruth And Bruce Rappaport Faculty Of Medicine; Israel Fil: Boon, Camiel J. F.. Leiden University. Leiden University Medical Center; Países Bajos Fil: van den Born, L. Ingeborgh. Rotterdam Ophthalmic Institute; Países Bajos Fil: Defoort, Sabine. Universite Lille; Francia Fil: Devos, Aurore. Universite Lille; Francia Fil: Dockery, Adrian. Trinity College; Estados Unidos Fil: Dudakova, Lubica. Charles University and General University Hospital; República Checa Fil: Fakin, Ana. Charles University and General University Hospital; República Checa Fil: Farrar, G. Jane. Trinity College; Estados Unidos Fil: Ferraz Sallum, Juliana Maria. Universidade Federal de Sao Paulo; Brasil Fil: Fujinami, Kaoru. UCL Institute of Ophthalmology; Reino Unido Fil: Gilissen, Christian. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Glavac, Damjan. University of Ljubljana; Eslovenia Fil: Gorin, Michael B.. University of California at Los Angeles. School of Medicine; Estados Unidos Fil: Greenberg, Jacquie. University of Cape Town; Sudáfrica Fil: Hayashi, Takaaki. The Jikei University School of Medicine; Japón Fil: Hettinga, Ymkje M.. Bartiméus Diagnostic Center for Complex Visual Disorders; Países Bajos Fil: Hoischen, Alexander. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Hoyng, Carel B.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Hufendiek, Karsten. University Eye Hospital Hannover Medical School; Alemania Fil: Jägle, Herbert. University Regensburg; Alemania Fil: Kamakari, Smaragda. OMMA Ophthalmological Institute of Athens; Grecia Fil: Karali, Marianthi. Seconda Universita Degli Studi Di Napoli; Italia Fil: Kellner, Ulrich. No especifíca; Fil: Klaver, Caroline C. W.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Kousal, Bohdan. Charles University and General University Hospital; República Checa Fil: Lamey, Tina M.. University of Western Australia; Australia Fil: MacDonald, Ian M.. University of Alberta; Canadá Fil: Matynia, Anna. University of California at Los Angeles. School of Medicine; Estados Unidos Fil: McLaren, Terri L.. University of Western Australia; Australia Fil: Mena, Marcela D.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Meunier, Isabelle. Université Montpellier II; Francia Fil: Miller, Rianne. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Newman, Hadas. Universitat Tel Aviv; Israel Fil: Ntozini, Buhle. University of Cape Town; Sudáfrica Fil: Oldak, Monika. No especifíca; Fil: Pieterse, Marc. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Podhajcer, Osvaldo Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Puech, Bernard. Universite Lille; Francia Fil: Ramesar, Raj. University of Cape Town; Sudáfrica Fil: Rüther, Klaus. No especifíca; Fil: Salameh, Manar. No especifíca; Fil: Salles, Mariana Vallim. Universidade de Sao Paulo; Brasil Fil: Sharon, Dror. The Hebrew University of Jerusalem; Israel Fil: Simonelli, Francesca. Seconda Universita Degli Studi Di Napoli; Italia Fil: Spital, Georg. No especifíca; Fil: Steehouwer, Marloes. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Szaflik, Jacek P.. No especifíca; Fil: Thompson, Jennifer A.. No especifíca; Fil: Thuillier, Caroline. Universite Lille; Francia Fil: Tracewska, Anna M.. No especifíca; Fil: van Zweeden, Martine. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Vincent, Andrea L.. University of Auckland; Nueva Zelanda Fil: Zanlonghi, Xavier. No especifíca; Fil: Liskova, Petra. Charles University and General University Hospital; República Checa Fil: Stöhr, Heidi. Universitat Regensburg; Alemania Fil: De Roach, John N.. University of Western Australia; Australia Fil: Ayuso, Carmen. Hospital Universitario Fundación Jiménez Díaz; España Fil: Roberts, Lisa. University of Cape Town; Sudáfrica Fil: Weber, Bernhard H. F.. Universitat Regensburg; Alemania Fil: Dhaenens, Claire Marie. Universite Lille; Francia Fil: Cremers, Frans P. M.. Radboud University Nijmegen Medical Centre; Países Bajos
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- 2020
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