Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Autor: Acosta, Maria T., Adam, Margaret, Adams, David R., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Gutierrez, Irma, Hadley, Don, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mahoney, Rachel, Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Nakano-Okuno, Mariko, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Raper, Anna, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Krezel, Lilianna Solnica, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Tan, Queenie K.- G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz-Hubshman, Monika, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zastrow, Diane B., Zhang, Zhe, Zhao, Chunli, Zuchner, Stephan, Tepe, Burak, Macke, Erica L., Niceta, Marcello, Weisz Hubshman, Monika, Kanca, Oguz, Schultz-Rogers, Laura, Zarate, Yuri A., Schaefer, G. Bradley, Granadillo De Luque, Jorge Luis, Wegner, Daniel J., Cogne, Benjamin, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Wagner, Eric J., Pais, Lynn S., Neil, Jennifer E., Mochida, Ganeshwaran H., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Shohat, Mordechai, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Fine, Anthony, Lanpher, Brendan, Gavrilova, Ralitza, Blanc, Pierre, Burglen, Lydie, Afenjar, Alexandra, Steel, Dora, Kurian, Manju A., Prabhakar, Prab, Gößwein, Sophie, Di Donato, Nataliya, Bertini, Enrico S., Tartaglia, Marco, Klee, Eric W.

Publikováno v: In The American Journal of Human Genetics 4 May 2023 110(5):774-789

Modular assembly of the principal microtubule nucleator γ-TuRC

Autor: Martin Würtz, Erik Zupa, Enrico S. Atorino, Annett Neuner, Anna Böhler, Ariani S. Rahadian, Bram J. A. Vermeulen, Giulia Tonon, Sebastian Eustermann, Elmar Schiebel, Stefan Pfeffer

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

The human microtubule nucleator γ-TuRC is composed of more than thirty subunits, including actin. Here the authors reveal the structural mechanism of modular γ-TuRC assembly and show a functional role of actin in microtubule nucleation.

Externí odkaz: https://doaj.org/article/1aa7f3db771a4f54a4b01bc808055e8e

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Autor: Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward ^*

Publikováno v: In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Autor: Groeneweg, Stefan, Peeters, Robin P, Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F M, McGowan, Anne, Lyons, Greta, Aarsen, Femke K, Barca, Diana, van Beynum, Ingrid M, van der Knoop, Marieke M, Jansen, Jurgen, Manshande, Martien ^*, Lunsing, Roelineke J, Nowak, Stan, den Uil, Corstiaan A, Zillikens, M Carola, Visser, Frank E, Vrijmoeth, Paul, de Wit, Marie Claire Y, Wolf, Nicole I, Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B, Medici, Marco, Bertini, Enrico S, Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda ^*, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Oliver Petit, Isabelle, Polak, Michel, Chatterjee, Krishna, Visser, Theo J ^*, Visser, W Edward ^*

Publikováno v: In The Lancet Diabetes & Endocrinology September 2019 7(9):695-706

Phylogroup typing and carbapenem resistance of Escherichia coli from agricultural samples in Metro Manila, Philippines.

Autor: Zara, Enrico S.¹ (AUTHOR), Vital, Pierangeli G.¹ (AUTHOR) pgvital@up.edu.ph

Publikováno v: Journal of Environmental Science & Health. Part B. Pesticides, Food Contaminants & Agricultural Wastes. 2022, Vol. 57 Issue 8, p644-656. 13p.