TET2 lesions enhance the aggressiveness of CEBPA-mutant acute myeloid leukemia by rebalancing GATA2 expression

por Heyes, Elizabeth, Wilhelmson, Anna S., Wenzel, Anne, Manhart, Gabriele, Eder, Thomas, Schuster, Mikkel B., Rzepa, Edwin, Pundhir, Sachin, D’Altri, Teresa, Frank, Anne-Katrine, Gentil, Coline, Woessmann, Jakob, Schoof, Erwin M., Meggendorfer, Manja, Schwaller, Jürg, Haferlach, Torsten, Grebien, Florian, Porse, Bo T.
Publicado 2023

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

por Gruber, Robert, Rogerson, Clare, Windpassinger, Christian, Banushi, Blerida, Straatman-Iwanowska, Anna, Hanley, Joanna, Forneris, Federico, Strohal, Robert, Ulz, Peter, Crumrine, Debra, Menon, Gopinathan K., Blunder, Stefan, Schmuth, Matthias, Müller, Thomas, Smith, Holly, Mills, Kevin, Kroisel, Peter, Janecke, Andreas R., Gissen, Paul
Publicado 2017

Maralixibat for the treatment of PFIC: Long‐term, IBAT inhibition in an open‐label, Phase 2 study

por Loomes, Kathleen M., Squires, Robert H., Kelly, Deirdre, Rajwal, Sanjay, Soufi, Nisreen, Lachaux, Alain, Jankowska, Irena, Mack, Cara, Setchell, Kenneth D. R., Karthikeyan, Palaniswamy, Kennedy, Ciara, Dorenbaum, Alejandro, Desai, Nirav K., Garner, Will, Jaecklin, Thomas, Vig, Pamela, Miethke, Alexander, Thompson, Richard J.
Publicado 2022

Evolutionarily conserved partial gene duplication in the Triticeae tribe of grasses confers pathogen resistance

por Rajaraman, Jeyaraman, Douchkov, Dimitar, Lück, Stefanie, Hensel, Götz, Nowara, Daniela, Pogoda, Maria, Rutten, Twan, Meitzel, Tobias, Brassac, Jonathan, Höfle, Caroline, Hückelhoven, Ralph, Klinkenberg, Jörn, Trujillo, Marco, Bauer, Eva, Schmutzer, Thomas, Himmelbach, Axel, Mascher, Martin, Lazzari, Barbara, Stein, Nils, Kumlehn, Jochen, Schweizer, Patrick
Publicado 2018

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

por Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J.S., Cochat, Pierre, Deschênes, Georges, Harambat, Jérôme, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W., Bacchetta, Justine
Publicado 2022

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy

por Gonzales, Emmanuel, Gardin, Antoine, Almes, Marion, Darmellah-Remil, Amaria, Seguin, Hanh, Mussini, Charlotte, Franchi-Abella, Stéphanie, Duché, Mathieu, Ackermann, Oanez, Thébaut, Alice, Habes, Dalila, Hermeziu, Bogdan, Lapalus, Martine, Falguières, Thomas, Combal, Jean-Philippe, Benichou, Bernard, Valero, Sonia, Davit-Spraul, Anne, Jacquemin, Emmanuel
Publicado 2023

Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabd...

por Pathak, Rajiv, Zin, Francesca, Thomas, Christian, Bens, Susanne, Gayden, Tenzin, Karamchandani, Jason, Dudley, Roy W., Nemes, Karolina, Johann, Pascal D., Oyen, Florian, Kordes, Uwe, Jabado, Nada, Siebert, Reiner, Paulus, Werner, Kool, Marcel, Frühwald, Michael C., Albrecht, Steffen, Kalpana, Ganjam V., Hasselblatt, Martin
Publicado 2021

Analysis of the initial performance of the ATLAS Level-1 Calorimeter Trigger

por Achenbach, R, Adragna, P, Aharrouche, M, Andrei, V, Åsman, B, Barnett, B M, Bauss, B, Bendel, M, Bohm, C, Booth, J R A, Bracinik, J, Brawn, I P, Charlton, D G, Childers, J T, Collins, N J, Curtis, C J, Davis, A O, Eckweiler, S, Eisenhandler, E F, Faulkner, P J W, Fleckner, J, Föhlisch, F, Gee, C N P, Gillman, A R, Goringer, C, Groll, M, Hadley, D R, Hanke, P, Hellman, S, Hidvegi, A, Hillier, S J, Johansen, M, Kluge, E E, Kühl, T, Landon, M, Lendermann, V, Lilley, J N, Mahboubi, K, Mahout, G, Meier, K, Middleton, R P, Moa, T, Morris, J D, Müller, F, Neusiedl, A, Ohm, C, Oltmann, B, Perera, V J O, Prieur, D P F, Qian, W, Rieke, S, Rühr, F, Sankey, D P C, Schäfer, U, Schmitt, K, Schultz-Coulon, H C, Seidler, P, Silverstein, S, Sjölin, J, Staley, R J, Stamen, R, Stockton, M C, Tan, C L A, Tapprogge, S, Thomas, J P, Thompson, P D, Watkins, P M, Watson, A, Weber, P, Wessels, M, Wildt, M
Publicado 2008

Testing and calibrating analogue inputs to the ATLAS Level-1 Calorimeter Trigger

por Achenbach, R, Adragna, P, Aharrouche, M, Andrei, V, Åsman, B, Barnett, B M, Bauss, B, Bendel, M, Bohm, C, Booth, J R A, Bracinik, J, Brawn, I P, Charlton, D G, Childers, J T, Collins, N J, Curtis, C J, Davis, A O, Eckweiler, S, Eisenhandler, E F, Faulkner, P J W, Fleckner, J, Föhlisch, F, Gee, C N P, Gillman, A R, Goringer, C, Groll, M, Hadley, D R, Hanke, P, Hellman, S, Hidvegi, A, Hillier, S J, Johansen, M, Kluge, E E, Kühl, T, Landon, M, Lendermann, V, Lilley, J N, Mahboubi, K, Mahout, G, Meier, K, Middleton, R P, Moa, T, Morris, J D, Müller, F, Neusiedl, A, Ohm, C, Oltmann, B, Perera, V J O, Prieur, D P F, Qian, W, Rieke, S, Rühr, F, Sankey, D P C, Schäfer, U, Schmitt, K, Schultz-Coulon, H C, Seidler, P, Silverstein, S, Sjölin, J, Staley, R J, Stamen, R, Stockton, M C, Tan, C L A, Tapprogge, S, Thomas, J P, Thompson, P D, Watkins, P M, Watson, A, Weber, P, Wessels, M, Wildt, M
Publicado 2008

Call to Action: SARS-CoV-2 and CerebrovAscular DisordErs (CASCADE)

por Abootalebi, Shahram, Aertker, Benjamin M., Andalibi, Mohammad Sobhan, Asdaghi, Negar, Aykac, Ozlem, Azarpazhooh, M. Reza, Bahit, M. Cecilia, Barlinn, Kristian, Basri, Hamidon, Shahripour, Reza Bavarsad, Bersano, Anna, Biller, Jose, Borhani-Haghighi, Afshin, Brown, Robert D., Campbell, Bruce CV, Cruz-Flores, Salvador, De Silva, Deidre Anne, Di Napoli, Mario, Divani, Afshin A., Edgell, Randall C., Fifi, Johanna T., Ghoreishi, Abdoreza, Hirano, Teruyuki, Hong, Keun-Sik, Hsu, Chung Y., Huang, Josephine F., Inoue, Manabu, Jagolino, Amanda L., Kapral, Moira, Kee, Hoo Fan, Keser, Zafer, Khatri, Rakesh, Koga, Masatoshi, Krupinski, Jerzy, Liebeskind, David S, Liu, Liping, Ma, Henry, Maud, Alberto, McCullough, Louise D., Meyer, Dawn Matherne, Mifsud, Victoria, Morovatdar, Negar, Nilanont, Yongchai, Oxley, Thomas J, Özdemir, Atilla Özcan, Pandian, Jeyaraj, Pantoni, Leonardo, Papamitsakis, Nikolaos I.H., Parry-Jones, Adrian, Phan, Thanh, Rodriguez, Gustavo, Romano, Jose G., Sabaa-Ayoun, Ziad, Saber, Hamidreza, Sasannezhad, Payam, Saver, Jeffrey L., Scharf, Eugene, Shuaib, Ashfaq, Silver, Brian, Singhal, Shaloo, Smith, Craig J., Stranges, Saverio, Sylaja, P.N, Torbey, Michel, Toyoda, Kazunori, Tsivgoulis, Georgios, Wasay, Mohammad, Yassi, Nawaf, Yoshimoto, Takeshi, Zamani, Babak, Zand, Ramin
Publicado 2020

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

por Lévy, Romain, Gothe, Florian, Momenilandi, Mana, Magg, Thomas, Materna, Marie, Peters, Philipp, Raedler, Johannes, Philippot, Quentin, Rack-Hoch, Anita Lena, Langlais, David, Bourgey, Mathieu, Lanz, Anna-Lisa, Ogishi, Masato, Rosain, Jérémie, Martin, Emmanuel, Latour, Sylvain, Vladikine, Natasha, Distefano, Marco, Khan, Taushif, Rapaport, Franck, Schulz, Marian S., Holzer, Ursula, Fasth, Anders, Sogkas, Georgios, Speckmann, Carsten, Troilo, Arianna, Bigley, Venetia, Roppelt, Anna, Dinur-Schejter, Yael, Toker, Ori, Bronken Martinsen, Karen Helene, Sherkat, Roya, Somekh, Ido, Somech, Raz, Shouval, Dror S., Kühl, Jörn-Sven, Ip, Winnie, McDermott, Elizabeth M., Cliffe, Lucy, Ozen, Ahmet, Baris, Safa, Rangarajan, Hemalatha G., Jouanguy, Emmanuelle, Puel, Anne, Bustamante, Jacinta, Alyanakian, Marie-Alexandra, Fusaro, Mathieu, Wang, Yi, Kong, Xiao-Fei, Cobat, Aurélie, Boutboul, David, Castelle, Martin, Aguilar, Claire, Hermine, Olivier, Cheminant, Morgane, Suarez, Felipe, Yildiran, Alisan, Bousfiha, Aziz, Al-Mousa, Hamoud, Alsohime, Fahad, Cagdas, Deniz, Abraham, Roshini S., Knutsen, Alan P., Fevang, Borre, Bhattad, Sagar, Kiykim, Ayca, Erman, Baran, Arikoglu, Tugba, Unal, Ekrem, Kumar, Ashish, Geier, Christoph B., Baumann, Ulrich, Neven, Bénédicte, Rohlfs, Meino, Walz, Christoph, Abel, Laurent, Malissen, Bernard, Marr, Nico, Klein, Christoph, Casanova, Jean-Laurent, Hauck, Fabian, Béziat, Vivien
Publicado 2022

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

por Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Publicado 2015

AvrPm2 encodes an RNase‐like avirulence effector which is conserved in the two different specialized forms of wheat and rye powdery mildew fungus

por Praz, Coraline R., Bourras, Salim, Zeng, Fansong, Sánchez‐Martín, Javier, Menardo, Fabrizio, Xue, Minfeng, Yang, Lijun, Roffler, Stefan, Böni, Rainer, Herren, Gerard, McNally, Kaitlin E., Ben‐David, Roi, Parlange, Francis, Oberhaensli, Simone, Flückiger, Simon, Schäfer, Luisa K., Wicker, Thomas, Yu, Dazhao, Keller, Beat
Publicado 2016

Clinical and genetic variability in children with partial albinism

por Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., Sergouniotis, Panagiotis I.
Publicado 2019

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

por Puusepp, Sanna, Kovacs-Nagy, Reka, Alhaddad, Bader, Braunisch, Matthias, Hoffmann, Georg F., Kotzaeridou, Urania, Lichvarova, Lucia, Liiv, Mailis, Makowski, Christine, Mandel, Merle, Meitinger, Thomas, Pajusalu, Sander, Rodenburg, Richard J., Safiulina, Dzhamilja, Strom, Tim M., Talvik, Inga, Vaarmann, Annika, Wilson, Callum, Kaasik, Allen, Haack, Tobias B., Õunap, Katrin
Publicado 2018

Prenatal iodine supplementation and early childhood neurodevelopment: the PoppiE trial – study protocol for a multicentre randomised controlled trial

por Best, Karen P, Gould, Jacqueline F, Makrides, Maria, Sullivan, Thomas, Cheong, Jeanie, Zhou, Shao J, Kane, Stefan, Safa, Huda, Sparks, A, Doyle, Lex W, McPhee, A J, Nippita, Tanya A C, Afzali, Hossein H A, Grivell, Rosalie, Mackerras, D, Knight, E, Wood, Simon, Green, Tim
Publicado 2023

Genetic and genomic analysis of acute lymphoblastic leukemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ cli...

por Creasey, Thomas, Barretta, Emilio, Ryan, Sarra L., Butler, Ellie, Kirkwood, Amy A., Leongamornlert, Daniel, Papaemmanuil, Elli, Patrick, Pip, Clifton-Hadley, Laura, Patel, Bela, Menne, Tobias, McMillan, Andrew K., Harrison, Christine J., Rowntree, Clare J., Morley, Nick, Marks, David I., Fielding, Adele K., Moorman, Anthony V.
Publicado 2021

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment

por Ayers, Kristin L, Glicksberg, Benjamin S, Garfield, Alastair S, Longerich, Simonne, White, Joseph A, Yang, Pengwei, Du, Lei, Chittenden, Thomas W, Gulcher, Jeffery R, Roy, Sophie, Fiedorek, Fred, Gottesdiener, Keith, Cohen, Sarah, North, Kari E, Schadt, Eric E, Li, Shuyu D, Chen, Rong, Van der Ploeg, Lex H T
Publicado 2018

Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism

por Borsche, Max, König, Inke R, Delcambre, Sylvie, Petrucci, Simona, Balck, Alexander, Brüggemann, Norbert, Zimprich, Alexander, Wasner, Kobi, Pereira, Sandro L, Avenali, Micol, Deuschle, Christian, Badanjak, Katja, Ghelfi, Jenny, Gasser, Thomas, Kasten, Meike, Rosenstiel, Philip, Lohmann, Katja, Brockmann, Kathrin, Valente, Enza Maria, Youle, Richard J, Grünewald, Anne, Klein, Christine
Publicado 2020

Global political responsibility for the conservation of albatrosses and large petrels

por Beal, Martin, Dias, Maria P., Phillips, Richard A., Oppel, Steffen, Hazin, Carolina, Pearmain, Elizabeth J., Adams, Josh, Anderson, David J., Antolos, Michelle, Arata, Javier A., Arcos, José Manuel, Arnould, John P. Y., Awkerman, Jill, Bell, Elizabeth, Bell, Mike, Carey, Mark, Carle, Ryan, Clay, Thomas A., Cleeland, Jaimie, Colodro, Valentina, Conners, Melinda, Cruz-Flores, Marta, Cuthbert, Richard, Delord, Karine, Deppe, Lorna, Dilley, Ben J., Dinis, Herculano, Elliott, Graeme, De Felipe, Fernanda, Felis, Jonathan, Forero, Manuela G., Freeman, Amanda, Fukuda, Akira, González-Solís, Jacob, Granadeiro, José Pedro, Hedd, April, Hodum, Peter, Igual, José Manuel, Jaeger, Audrey, Landers, Todd J., Le Corre, Matthieu, Makhado, Azwianewi, Metzger, Benjamin, Militão, Teresa, Montevecchi, William A., Morera-Pujol, Virginia, Navarro-Herrero, Leia, Nel, Deon, Nicholls, David, Oro, Daniel, Ouni, Ridha, Ozaki, Kiyoaki, Quintana, Flavio, Ramos, Raül, Reid, Tim, Reyes-González, José Manuel, Robertson, Christopher, Robertson, Graham, Romdhane, Mohamed Salah, Ryan, Peter G., Sagar, Paul, Sato, Fumio, Schoombie, Stefan, Scofield, R. Paul, Shaffer, Scott A., Shah, Nirmal Jivan, Stevens, Kim L., Surman, Christopher, Suryan, Robert M., Takahashi, Akinori, Tatayah, Vikash, Taylor, Graeme, Thompson, David R., Torres, Leigh, Walker, Kath, Wanless, Ross, Waugh, Susan M., Weimerskirch, Henri, Yamamoto, Takashi, Zajkova, Zuzana, Zango, Laura, Catry, Paulo
Publicado 2021