Loading…
Loading…
Loading…
Transcriptomic Alterations in Spliceosome Components in Advanced Heart Failure: Status of Cardiac-Specific Alternative Splicing Factors
Giménez-Escamilla, Isaac, Pérez-Carrillo, Lorena, González-Torrent, Irene, Delgado-Arija, Marta, Benedicto, Carlota, Portolés, Manuel, Tarazón, Estefanía, Roselló-Lletí, Esther
Published in International journal of molecular sciences (04.09.2024)
Published in International journal of molecular sciences (04.09.2024)
Get full text
Journal Article
Loading…
Altered Rbfox1-Vamp1 pathway and prefrontal cortical dysfunction in schizophrenia
Chung, Youjin, Dienel, Samuel J., Belch, Matthew J., Fish, Kenneth N., Ermentrout, G. Bard, Lewis, David A., Chung, Daniel W.
Published in Molecular psychiatry (01.05.2024)
Published in Molecular psychiatry (01.05.2024)
Get full text
Journal Article
Loading…
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
Gehman, Lauren T, Stoilov, Peter, Maguire, Jamie, Damianov, Andrey, Lin, Chia-Ho, Shiue, Lily, Ares, Manuel, Mody, Istvan, Black, Douglas L
Published in Nature genetics (01.07.2011)
Published in Nature genetics (01.07.2011)
Get full text
Journal Article
Loading…
Rare and private spliceosomal gene mutations drive partial, complete, and dual phenocopies of hotspot alterations
Pangallo, Joseph, Kiladjian, Jean-Jacques, Cassinat, Bruno, Renneville, Aline, Taylor, Justin, Polaski, Jacob T., North, Khrystyna, Abdel-Wahab, Omar, Bradley, Robert K.
Published in Blood (26.03.2020)
Published in Blood (26.03.2020)
Get full text
Journal Article
Loading…
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
Get full text
Journal Article
Loading…
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
Zarouchlioti, Christina, Sanchez-Pintado, Beatriz, Hafford Tear, Nathaniel J., Klein, Pontus, Liskova, Petra, Dulla, Kalyan, Semo, Ma’ayan, Vugler, Anthony A., Muthusamy, Kirithika, Dudakova, Lubica, Levis, Hannah J., Skalicka, Pavlina, Hysi, Pirro, Cheetham, Michael E., Tuft, Stephen J., Adamson, Peter, Hardcastle, Alison J., Davidson, Alice E.
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
Get full text
Journal Article
Loading…
Basic Science and Pathogenesis
Belloy, Michael E, Reid, Danielle M, Guen, Yann Le, Napolioni, Valerio, Greicius, Michael D
Published in Alzheimer's & dementia (01.12.2024)
Published in Alzheimer's & dementia (01.12.2024)
Get full text
Journal Article
Loading…
Silencing METTL3 and YTHDF2 increases HSP70 expression and promotes corneal epithelial healing
Jing, Yapeng, Li, Jun, Guan, Yi, Xing, Shulei, Li, Xuan
Published in Experimental eye research (01.07.2025)
Published in Experimental eye research (01.07.2025)
Get full text
Journal Article
Loading…
HLA-DQ and RBFOX1 as susceptibility genes for an outbreak of hydrolyzed wheat allergy
Noguchi, Emiko, Akiyama, Masato, Yagami, Akiko, Hirota, Tomomitsu, Okada, Yukinori, Kato, Zenichiro, Kishikawa, Reiko, Fukutomi, Yuma, Hide, Michihiro, Morita, Eishin, Aihara, Michiko, Hiragun, Makiko, Chinuki, Yuko, Okabe, Takahiro, Ito, Akiko, Adachi, Atsuko, Fukunaga, Atsushi, Kubota, Yumiko, Aoki, Toshiyuki, Aoki, Youko, Nishioka, Kazue, Adachi, Tetsuya, Kanazawa, Nobuo, Miyazawa, Hitoshi, Sakai, Hiroyuki, Kozuka, Takehito, Kitamura, Hideo, Hashizume, Hideo, Kanegane, Chiharu, Masuda, Koji, Sugiyama, Kumiya, Tokuda, Reiko, Furuta, Junichi, Higashimoto, Ikkou, Kato, Atsuko, Seishima, Mariko, Tajiri, Akihiko, Tomura, Atsuko, Taniguchi, Hiroko, Kojima, Hiroto, Tanaka, Hidenori, Sakai, Aiko, Morii, Wataru, Nakamura, Masashi, Kamatani, Yoichiro, Takahashi, Atsushi, Kubo, Michiaki, Tamari, Mayumi, Saito, Hirohisa, Matsunaga, Kayoko
Published in Journal of allergy and clinical immunology (01.11.2019)
Published in Journal of allergy and clinical immunology (01.11.2019)
Get full text
Journal Article
Loading…
RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy
Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
Published in PloS one (06.09.2013)
Published in PloS one (06.09.2013)
Get full text
Journal Article
Loading…
Splicing Factor Transcript Abundance in Saliva as a Diagnostic Tool for Breast Cancer
Bentata, Mercedes, Morgenstern, Guy, Nevo, Yuval, Kay, Gillian, Granit Mizrahi, Avital, Temper, Mark, Maimon, Ofra, Monas, Liza, Basheer, Reham, Ben-Hur, Asa, Peretz, Tamar, Salton, Maayan
Published in Genes (03.08.2020)
Published in Genes (03.08.2020)
Get full text
Journal Article
Loading…
PUF60: a prominent new target of the autoimmune response in dermatomyositis and Sjögren's syndrome
Fiorentino, David F, Presby, Matthew, Baer, Alan N, Petri, Michelle, Rieger, Kerri E, Soloski, Mark, Rosen, Antony, Mammen, Andrew L, Christopher-Stine, Lisa, Casciola-Rosen, Livia
Published in Annals of the rheumatic diseases (01.06.2016)
Published in Annals of the rheumatic diseases (01.06.2016)
Get full text
Journal Article
Loading…
Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility
Wang, Yanping, Gray, Dione R, Robbins, Alan K, Crowgey, Erin L, Chanock, Stephen J, Greene, Mark H, McGlynn, Katherine A, Nathanson, Katherine, Turnbull, Clare, Wang, Zhaoming, Devoto, Marcella, Barthold, Julia Spencer
Published in Human reproduction (Oxford) (01.05.2018)
Published in Human reproduction (Oxford) (01.05.2018)
Get full text
Journal Article
Loading…
Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary Case-Control Study and Bioinformatics Analysis
Mokhtari, Mohammad Ali, Sargazi, Saman, Saravani, Ramin, Heidari Nia, Milad, Mirinejad, Shekoufeh, Hadzsiev, Kinga, Bene, Judit, Shakiba, Mansoor
Published in Disease markers (2022)
Published in Disease markers (2022)
Get full text
Journal Article
Loading…
Elucidation of the Landscape of Alternatively Spliced Genes and Features in the Dorsal Striatum of Aggressive/Aggression-Deprived Mice in the Model of Chronic Social Conflicts
Babenko, Vladimir, Redina, Olga, Smagin, Dmitry, Kovalenko, Irina, Galyamina, Anna, Kudryavtseva, Natalia
Published in Genes (27.02.2023)
Published in Genes (27.02.2023)
Get full text
Journal Article
Loading…
Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy
Lacey, Cameron J., Doudney, Kit, Bridgman, Paul G., George, Peter M., Mulder, Roger T., Zarifeh, Julie J., Kimber, Bridget, Cadzow, Murray J., Black, Michael A., Merriman, Tony R., Lehnert, Klaus, Bickley, Vivienne M, Pearson, John F., Cameron, Vicky A., Kennedy, Martin A.
Published in Scientific reports (15.05.2018)
Published in Scientific reports (15.05.2018)
Get full text
Journal Article
Loading…
SF3A1 and pancreatic cancer: new evidence for the association of the spliceosome and cancer
Tian, Jing, Liu, Yaping, Zhu, Beibei, Tian, Yao, Zhong, Rong, Chen, Wei, Lu, Xinghua, Zou, Li, Shen, Na, Qian, Jiaming, Li, Hui, Miao, Xiaoping, Wang, Li
Published in Oncotarget (10.11.2015)
Published in Oncotarget (10.11.2015)
Get full text
Journal Article
Loading…
Evaluation of A2BP1 as an Obesity Gene
Ma, Lijun, Hanson, Robert L., Traurig, Michael T., Muller, Yunhua L., Kaur, Bakhshish P., Perez, Jessica M., Meyre, David, Fu, Mao, Körner, Antje, Franks, Paul W., Kiess, Wieland, Kobes, Sayuko, Knowler, William C., Kovacs, Peter, Froguel, Philippe, Shuldiner, Alan R., Bogardus, Clifton, Baier, Leslie J.
Published in Diabetes (New York, N.Y.) (01.11.2010)
Published in Diabetes (New York, N.Y.) (01.11.2010)
Get full text
Journal Article