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Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Gandal, Michael J., Zhang, Pan, Hadjimichael, Evi, Walker, Rebecca L., Chen, Chao, Liu, Shuang, Won, Hyejung, van Bakel, Harm, Varghese, Merina, Wang, Yongjun, Shieh, Annie W., Haney, Jillian, Parhami, Sepideh, Belmont, Judson, Kim, Minsoo, Moran Losada, Patricia, Khan, Zenab, Mleczko, Justyna, Xia, Yan, Dai, Rujia, Wang, Daifeng, Yang, Yucheng T., Xu, Min, Fish, Kenneth, Hof, Patrick R., Warrell, Jonathan, Fitzgerald, Dominic, White, Kevin, Jaffe, Andrew E., Peters, Mette A., Gerstein, Mark, Liu, Chunyu, Iakoucheva, Lilia M., Pinto, Dalila, Geschwind, Daniel H., Ashley-Koch, Allison E., Crawford, Gregory E., Garrett, Melanie E., Song, Lingyun, Safi, Alexias, Johnson, Graham D., Wray, Gregory A., Reddy, Timothy E, Goes, Fernando S., Zandi, Peter, Bryois, Julien, Jaffe, Andrew E., Price, Amanda J., Ivanov, Nikolay A., Collado-Torres, Leonardo, Hyde, Thomas M., Burke, Emily E., Kleiman, Joel E., Tao, Ran, Shin, Joo Heon, Akbarian, Schahram, Girdhar, Kiran, Jiang, Yan, Kundakovic, Marija, Brown, Leanne, Kassim, Bibi S., Park, Royce B., Wiseman, Jennifer R, Zharovsky, Elizabeth, Jacobov, Rivka, Devillers, Olivia, Flatow, Elie, Hoffman, Gabriel E., Lipska, Barbara K., Lewis, David A., Haroutunian, Vahram, Hahn, Chang-Gyu, Charney, Alexander W., Dracheva, Stella, Kozlenkov, Alexey, Belmont, Judson, DelValle, Diane, Francoeur, Nancy, Hadjimichael, Evi, Pinto, Dalila, van Bakel, Harm, Roussos, Panos, Fullard, John F., Bendl, Jaroslav, Hauberg, Mads E., Mangravite, Lara M, Peters, Mette A., Chae, Yooree, Peng, Junmin, Niu, Mingming, Wang, Xusheng, Webster, Maree J., Beach, Thomas G., Chen, Chao, Jiang, Yi, Dai, Rujia, Shieh, Annie W., Liu, Chunyu, Grennan, Kay S., Xia, Yan
Published in Science (American Association for the Advancement of Science) (14.12.2018)
Published in Science (American Association for the Advancement of Science) (14.12.2018)
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Circular RNA translation: novel protein isoforms and clinical significance
Wen, Shuo-yang, Qadir, Javeria, Yang, Burton B.
Published in Trends in molecular medicine (01.05.2022)
Published in Trends in molecular medicine (01.05.2022)
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Alternative splicing in plants: current knowledge and future directions for assessing the biological relevance of splice variants
Tognacca, Rocío S, Rodríguez, Florencia S, Aballay, Federico E, Cartagena, Carla M, Servi, Lucas, Petrillo, Ezequiel
Published in Journal of experimental botany (09.04.2023)
Published in Journal of experimental botany (09.04.2023)
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Metabolic and Proliferative State of Vascular Adventitial Fibroblasts in Pulmonary Hypertension Is Regulated Through a MicroRNA-124/PTBP1 (Polypyrimidine Tract Binding Protein 1)/Pyruvate Kinase Muscle Axis
Zhang, Hui, Wang, Daren, Li, Min, Plecitá-Hlavatá, Lydie, D’Alessandro, Angelo, Tauber, Jan, Riddle, Suzette, Kumar, Sushil, Flockton, Amanda, McKeon, B. Alexandre, Frid, Maria G., Reisz, Julie A., Caruso, Paola, El Kasmi, Karim C., Ježek, Petr, Morrell, Nicholas W., Hu, Cheng-Jun, Stenmark, Kurt R.
Published in Circulation (New York, N.Y.) (19.12.2017)
Published in Circulation (New York, N.Y.) (19.12.2017)
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Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
Tollervey, James R, Curk, Tomaž, Rogelj, Boris, Briese, Michael, Cereda, Matteo, Kayikci, Melis, König, Julian, Hortobágyi, Tibor, Nishimura, Agnes L, Župunski, Vera, Patani, Rickie, Chandran, Siddharthan, Rot, Gregor, Zupan, Blaž, Shaw, Christopher E, Ule, Jernej
Published in Nature neuroscience (01.04.2011)
Published in Nature neuroscience (01.04.2011)
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Temperature-dependent regulation of flowering by antagonistic FLM variants
Posé, David, Verhage, Leonie, Ott, Felix, Yant, Levi, Mathieu, Johannes, Angenent, Gerco C., Immink, Richard G. H., Schmid, Markus
Published in Nature (London) (21.11.2013)
Published in Nature (London) (21.11.2013)
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Structural and functional insights into GSDMB isoforms complex roles in pathogenesis
Colomo, Sara, Ros-Pardo, David, Oltra, Sara S, Gomez-Puertas, Paulino, Sarrio, David, Moreno-Bueno, Gema
Published in Cell cycle (Georgetown, Tex.) (18.10.2023)
Published in Cell cycle (Georgetown, Tex.) (18.10.2023)
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Dysregulation of the TCF4 Isoform in Corneal Endothelial Cells of Patients With Fuchs Endothelial Corneal Dystrophy
Honda, Tetsuro, Nakagawa, Tatsuya, Yuasa, Taichi, Tokuda, Yuichi, Nakano, Masakazu, Tashiro, Kei, Tourtas, Theofilos, Schlötzer-Schrehardt, Ursula, Kruse, Friedrich, Yamamoto, Koji, Koizumi, Noriko, Okumura, Naoki
Published in Investigative ophthalmology & visual science (17.06.2024)
Published in Investigative ophthalmology & visual science (17.06.2024)
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Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms
Patowary, Ashok, Zhang, Pan, Jops, Connor, Vuong, Celine K., Ge, Xinzhou, Hou, Kangcheng, Kim, Minsoo, Gong, Naihua, Margolis, Michael, Vo, Daniel, Wang, Xusheng, Liu, Chunyu, Pasaniuc, Bogdan, Li, Jingyi Jessica, Gandal, Michael J., de la Torre-Ubieta, Luis
Published in Science (American Association for the Advancement of Science) (24.05.2024)
Published in Science (American Association for the Advancement of Science) (24.05.2024)
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Molecular Mechanisms of Lupus Susceptibility Allele PBX1D
Park, Yuk Pheel, Roach, Tracoyia, Soh, Sujung, Zeumer-Spataro, Leilani, Choi, Seung-Chul, Ostrov, David A, Yang, Young, Morel, Laurence
Published in The Journal of immunology (1950) (01.09.2023)
Published in The Journal of immunology (1950) (01.09.2023)
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Increased adenosine-to-inosine RNA editing in rheumatoid arthritis
Vlachogiannis, Nikolaos I., Gatsiou, Aikaterini, Silvestris, Domenico Alessandro, Stamatelopoulos, Kimon, Tektonidou, Maria G., Gallo, Angela, Sfikakis, Petros P., Stellos, Konstantinos
Published in Journal of autoimmunity (01.01.2020)
Published in Journal of autoimmunity (01.01.2020)
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Differential Regulation of Tau Exon 2 and 10 Isoforms in Huntington’s Disease Brain
Petry, Serena, Nateghi, Behnaz, Keraudren, Rémi, Sergeant, Nicolas, Planel, Emmanuel, Hébert, Sébastien S., St-Amour, Isabelle
Published in Neuroscience (10.05.2023)
Published in Neuroscience (10.05.2023)
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Transposable element exonization generates a reservoir of evolving and functional protein isoforms
Arribas, Yago A., Baudon, Blandine, Rotival, Maxime, Suárez, Guadalupe, Bonté, Pierre-Emmanuel, Casas, Vanessa, Roubert, Apollinaire, Klein, Paul, Bonnin, Elisa, Mchich, Basma, Legoix, Patricia, Baulande, Sylvain, Sadacca, Benjamin, Diharce, Julien, Waterfall, Joshua J., Etchebest, Catherine, Carrascal, Montserrat, Goudot, Christel, Quintana-Murci, Lluís, Burbage, Marianne, Merlotti, Antonela, Amigorena, Sebastian
Published in Cell (26.12.2024)
Published in Cell (26.12.2024)
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Novel TREM2 splicing isoform that lacks the V‐set immunoglobulin domain is abundant in the human brain
Kiianitsa, Kostantin, Kurtz, Irina, Beeman, Neal, Matsushita, Mark, Chien, Wei‐Ming, Raskind, Wendy H., Korvatska, Olena
Published in Journal of leukocyte biology (01.11.2021)
Published in Journal of leukocyte biology (01.11.2021)
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CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility
Raj, Towfique, Ryan, Katie J., Replogle, Joseph M., Chibnik, Lori B., Rosenkrantz, Laura, Tang, Anna, Rothamel, Katie, Stranger, Barbara E., Bennett, David A., Evans, Denis A., De Jager, Philip L., Bradshaw, Elizabeth M.
Published in Human molecular genetics (15.05.2014)
Published in Human molecular genetics (15.05.2014)
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Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
Baig, Shahid M, Koschak, Alexandra, Lieb, Andreas, Gebhart, Mathias, Dafinger, Claudia, Nürnberg, Gudrun, Ali, Amjad, Ahmad, Ilyas, Sinnegger-Brauns, Martina J, Brandt, Niels, Engel, Jutta, Mangoni, Matteo E, Farooq, Muhammad, Khan, Habib U, Nürnberg, Peter, Striessnig, Jörg, Bolz, Hanno J
Published in Nature neuroscience (01.01.2011)
Published in Nature neuroscience (01.01.2011)
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