Works matching DE "ALTERNATIVE RNA splicing"


Results: 2490
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    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 6, p. 705, doi. 10.1111/cge.14725
    By:
    • Essid, Miriam;
    • Karoui, Sana;
    • Zribi, Mouna;
    • Ben Younes, Thouraya;
    • Januel, Louis;
    • Lafont, Estelle;
    • Labalme, Audrey;
    • Ben Hafsa, Meriem;
    • Hun Seo, Go;
    • Khatrouch, Safa;
    • Boudabous, Hela;
    • Ben Chehida, Amel;
    • Sanlaville, Damien;
    • Jilani, Houweyda;
    • Benjemaa, Lamia;
    • Kraoua, Ichraf;
    • Lesca, Gaetan;
    • Chatron, Nicolas
    Publication type:
    Article
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    Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicing.

    Published in:
    Acta Neuropathologica, 2025, v. 149, n. 1, p. 1, doi. 10.1007/s00401-025-02901-7
    By:
    • Faura, Júlia;
    • Heeman, Bavo;
    • Pottier, Cyril;
    • Baker, Matthew C.;
    • DeJesus-Hernandez, Mariely;
    • Küçükali, Fahri;
    • Heiß, Laura;
    • Wynants, Sarah;
    • Van den Broeck, Marleen;
    • De Rijk, Peter;
    • De Pooter, Tim;
    • Joris, Geert;
    • Finch, NiCole A.;
    • Asmann, Yan;
    • Strazisar, Mojca;
    • Murray, Melissa E.;
    • Petrucelli, Leonard;
    • Oskarsson, Björn;
    • Sleegers, Kristel;
    • Josephs, Keith A.
    Publication type:
    Article
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    Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 7, p. 1689, doi. 10.1007/s10815-023-02761-8
    By:
    • Tang, Fei;
    • Gao, Yang;
    • Li, KuoKuo;
    • Tang, DongDong;
    • Hao, Yan;
    • Lv, Mingrong;
    • Wu, Huan;
    • Cheng, Huiru;
    • Fei, Jia;
    • Jin, Zhiping;
    • Wang, Chao;
    • Xu, Yuping;
    • Wei, Zhaolian;
    • Zhou, Ping;
    • Zhang, Zhiguo;
    • He, Xiaojin;
    • Cao, Yunxia
    Publication type:
    Article
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    Musashi-2 causes cardiac hypertrophy and heart failure by inducing mitochondrial dysfunction through destabilizing Cluh and Smyd1 mRNA.

    Published in:
    Basic Research in Cardiology, 2023, v. 118, n. 1, p. 1, doi. 10.1007/s00395-023-01016-y
    By:
    • Singh, Sandhya;
    • Gaur, Aakash;
    • Sharma, Rakesh Kumar;
    • Kumari, Renu;
    • Prakash, Shakti;
    • Kumari, Sunaina;
    • Chaudhary, Ayushi Devendrasingh;
    • Prasun, Pankaj;
    • Pant, Priyanka;
    • Hunkler, Hannah;
    • Thum, Thomas;
    • Jagavelu, Kumaravelu;
    • Bharati, Pragya;
    • Hanif, Kashif;
    • Chitkara, Pragya;
    • Kumar, Shailesh;
    • Mitra, Kalyan;
    • Gupta, Shashi Kumar
    Publication type:
    Article
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