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

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Autor: Ayers, Katie, Eggers, Stefanie, Rollo, Ben, Smith, Katherine, Davidson, Nadia, Siddall, Nicole, Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf, Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David, Bahlo, Melanie, Oshlack, Alicia, O'Brien, Terrence, Kwan, Patrick, Koopman, Peter, Hime, Gary, Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, Mcelreavey, Ken, Banne, Ehud, Weintrob, Naomi, Benzeev, Bruria, Sinclair, Andrew

Publikováno v: Nature Communications
Nature Communications, 2023, 14 (1), pp.3403. ⟨10.1038/s41467-023-39040-0⟩

International audience; Squamous cell carcinoma antigen recognized by T cells 3 ( SART3 ) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ce46bdb7b636d4657872acece5ceafb8
https://hal.science/hal-04150348

Characteristics of Delayed Thyroid Stimulating Hormone Elevation in Neonatal Intensive Care Unit Newborns

Autor: Zung, Amnon ^*, Yehieli, Arie, Blau, Ayala, Almashanu, Shlomo

Publikováno v: In The Journal of Pediatrics November 2016 178:135-140

Embryonic Pig Pancreatic Tissue for the Treatment of Diabetes in a Nonhuman Primate Model

Autor: Hecht, Gil, Eventov-Friedman, Smadar, Rosen, Chava, Shezen, Elias, Tchorsh, Dalit, Aronovich, Anna, Freud, Enrique, Golan, Hana, El-Hasid, Ronit, Katchman, Helena, Hering, Bernhard J., Zung, Amnon, Kra-Oz, Zipi, Shaked-Mishan, Pninit, Yusim, Alex, Shtabsky, Alex, Idelevitch, Pavel, Tobar, Ana, Harmelin, Alon, Bachar-Lustig, Esther, Reisner, Yair, Klein, George

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2009 May . 106(21), 8659-8664.

Externí odkaz: https://www.jstor.org/stable/40482738

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.