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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
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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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
Raposo, Mafalda, Hübener-Schmid, Jeannette, Tagett, Rebecca, Ferreira, Ana F., Vieira Melo, Ana Rosa, Vasconcelos, João, Pires, Paula, Kay, Teresa, Garcia-Moreno, Hector, Giunti, Paola, Santana, Magda M., Pereira de Almeida, Luis, Infante, Jon, van de Warrenburg, Bart P., de Vries, Jeroen J., Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Costa, Maria do Carmo, Lima, Manuela
Published in Neurobiology of disease (01.04.2024)
Published in Neurobiology of disease (01.04.2024)
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Advances in Cyclic Nucleotide Phosphodiesterase-Targeted PET Imaging and Drug Discovery
Sun, Jiyun, Xiao, Zhiwei, Haider, Achi, Gebhard, Catherine, Xu, Hao, Luo, Hai-Bin, Zhang, Han-Ting, Josephson, Lee, Wang, Lu, Liang, Steven H.
Published in Journal of medicinal chemistry (10.06.2021)
Published in Journal of medicinal chemistry (10.06.2021)
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Selective Suppression of Endothelial Cell Apoptosis by the High Molecular Weight Form of Adiponectin
Kobayashi, Hideki, Ouchi, Noriyuki, Kihara, Shinji, Walsh, Kenneth, Kumada, Masahiro, Abe, Yuki, Funahashi, Tohru, Matsuzawa, Yuji
Published in Circulation research (05.03.2004)
Published in Circulation research (05.03.2004)
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Alpha-synuclein transcript isoforms in three different brain regions from Parkinson's disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms
Cardo, Lucía F., Coto, Eliecer, de Mena, Lorena, Ribacoba, René, Mata, Ignacio F., Menéndez, Manuel, Moris, Germán, Alvarez, Victoria
Published in Neuroscience letters (06.03.2014)
Published in Neuroscience letters (06.03.2014)
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Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis
Sic, Heiko, Kraus, Helene, Madl, Josef, Flittner, Karl-Andreas, von Münchow, Audrey Lilly, Pieper, Kathrin, Rizzi, Marta, Kienzler, Anne-Kathrin, Ayata, Korcan, Rauer, Sebastian, Kleuser, Burkhard, Salzer, Ulrich, Burger, Meike, Zirlik, Katja, Lougaris, Vassilios, Plebani, Alessandro, Römer, Winfried, Loeffler, Christoph, Scaramuzza, Samantha, Villa, Anna, Noguchi, Emiko, Grimbacher, Bodo, Eibel, Hermann
Published in Journal of allergy and clinical immunology (01.08.2014)
Published in Journal of allergy and clinical immunology (01.08.2014)
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Seed Dormancy in Arabidopsis Is Controlled by Alternative Polyadenylation of DOG1
Cyrek, Malgorzata, Fedak, Halina, Ciesielski, Arkadiusz, Guo, Yanwu, Sliwa, Aleksandra, Brzezniak, Lien, Krzyczmonik, Katarzyna, Pietras, Zbigniew, Kaczanowski, Szymon, Liu, Fuquan, Swiezewski, Szymon
Published in Plant physiology (Bethesda) (01.02.2016)
Published in Plant physiology (Bethesda) (01.02.2016)
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The Proteoform Landscape of Tau from the Human Brain
Xu, Tian, Su, Taojunfeng, Soye, Benjamin J. Des, Kandi, Soumya, Huang, Che-Fan, Wilkins, John T., Castellani, Rudolph J., Kafader, Jared O., Patrie, Steven M., Vassar, Robert, Kelleher, Neil L.
Published in Journal of proteome research (06.06.2025)
Published in Journal of proteome research (06.06.2025)
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IKZF1, a new susceptibility gene for cold medicine–related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement
Ueta, Mayumi, Sawai, Hiromi, Sotozono, Chie, Hitomi, Yuki, Kaniwa, Nahoko, Kim, Mee Kum, Seo, Kyoung Yul, Yoon, Kyung-Chul, Joo, Choun-Ki, Kannabiran, Chitra, Wakamatsu, Tais Hitomi, Sangwan, Virender, Rathi, Varsha, Basu, Sayan, Ozeki, Takeshi, Mushiroda, Taisei, Sugiyama, Emiko, Maekawa, Keiko, Nakamura, Ryosuke, Aihara, Michiko, Matsunaga, Kayoko, Sekine, Akihiro, Gomes, José Álvaro Pereira, Hamuro, Junji, Saito, Yoshiro, Kubo, Michiaki, Kinoshita, Shigeru, Tokunaga, Katsushi
Published in Journal of allergy and clinical immunology (01.06.2015)
Published in Journal of allergy and clinical immunology (01.06.2015)
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Selective Targeting of a Disease-Related Conformational Isoform of Macrophage Migration Inhibitory Factor Ameliorates Inflammatory Conditions
Thiele, Michael, Kerschbaumer, Randolf J, Tam, Frederick W K, Völkel, Dirk, Douillard, Patrice, Schinagl, Alexander, Kühnel, Harald, Smith, Jennifer, McDaid, John P, Bhangal, Gurjeet, Yu, Mei-Ching, Pusey, Charles D, Cook, H Terence, Kovarik, Josef, Magelky, Erica, Bhan, Atul, Rieger, Manfred, Mudde, Geert C, Ehrlich, Hartmut, Jilma, Bernd, Tilg, Herbert, Moschen, Alexander, Terhorst, Cox, Scheiflinger, Friedrich
Published in The Journal of immunology (1950) (01.09.2015)
Published in The Journal of immunology (1950) (01.09.2015)
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Alternative splicing of Tcf7l2 transcripts generates protein variants with differential promoter-binding and transcriptional activation properties at Wnt/β-catenin targets
Weise, Andreas, Bruser, Katja, Elfert, Susanne, Wallmen, Britta, Wittel, Yvonne, Wöhrle, Simon, Hecht, Andreas
Published in Nucleic acids research (01.04.2010)
Published in Nucleic acids research (01.04.2010)
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Does the imbalance in the apolipoprotein E isoforms underlie the pathophysiological process of sporadic Alzheimer's disease?
Lozupone, Madia, Imbimbo, Bruno Pietro, Balducci, Claudia, Lo Vecchio, Filomena, Bisceglia, Paola, Latino, Raffaela Rita, Leone, Maurizio, Dibello, Vittorio, Solfrizzi, Vincenzo, Greco, Antonio, Daniele, Antonio, Watling, Mark, Seripa, Davide, Panza, Francesco
Published in Alzheimer's & dementia (01.01.2023)
Published in Alzheimer's & dementia (01.01.2023)
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Sialylated isoforms of apolipoprotein C-III and plasma lipids in subjects with coronary artery disease
Olivieri, Oliviero, Chiariello, Carmela, Martinelli, Nicola, Castagna, Annalisa, Speziali, Giulia, Girelli, Domenico, Pizzolo, Francesca, Bassi, Antonella, Cecconi, Daniela, Robotti, Elisa, Manfredi, Marcello, Conte, Eleonora, Marengo, Emilio
Published in Clinical chemistry and laboratory medicine (28.08.2018)
Published in Clinical chemistry and laboratory medicine (28.08.2018)
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Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing
Harries, Lorna W., Hernandez, Dena, Henley, William, Wood, Andrew R., Holly, Alice C., Bradley‐Smith, Rachel M., Yaghootkar, Hanieh, Dutta, Ambarish, Murray, Anna, Frayling, Timothy M., Guralnik, Jack M., Bandinelli, Stefania, Singleton, Andrew, Ferrucci, Luigi, Melzer, David
Published in Aging cell (01.10.2011)
Published in Aging cell (01.10.2011)
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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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