Works about LETHAL mutations

Results: 373
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    CRISPR-cas9 screening identified lethal genes enriched in Hippo kinase pathway and of predictive significance in primary low-grade glioma.

    Published in:
    Molecular Medicine, 2023, v. 29, n. 1, p. 1, doi. 10.1186/s10020-023-00652-3
    By:
    • Mijiti, Maimaitili;
    • Maimaiti, Aierpati;
    • Chen, Xiaoqing;
    • Tuersun, Maidina;
    • Dilixiati, Miershayiti;
    • Dilixiati, Yilidanna;
    • Zhu, Guohua;
    • Wu, Hao;
    • Li, Yandong;
    • Turhon, Mirzat;
    • Abulaiti, Aimitaji;
    • Maimaitiaili, Nuerailijiang;
    • Yiming, Nadire;
    • Kasimu, Maimaitijiang;
    • Wang, Yongxin
    Publication type:
    Article
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    A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.

    Published in:
    Animal Genetics, 2019, v. 50, n. 6, p. 695, doi. 10.1111/age.12834
    By:
    • Jagannathan, V.;
    • Drögemüller, C.;
    • Leeb, T.;
    • Aguirre, Gustavo;
    • André, Catherine;
    • Bannasch, Danika;
    • Becker, Doreen;
    • Davis, Brian;
    • Ekenstedt, Kari;
    • Faller, Kiterie;
    • Forman, Oliver;
    • Friedenberg, Steve;
    • Furrow, Eva;
    • Giger, Urs;
    • Hitte, Christophe;
    • Hytönen, Marjo;
    • Lohi, Hannes;
    • Mellersh, Cathryn;
    • Mickelson, James R.;
    • Murgiano, Leonardo
    Publication type:
    Article
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    Structures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54787-w
    By:
    • Ona Chuquimarca, Samara Mishelle;
    • Beenstock, Jonah;
    • Daou, Salima;
    • Porat, Jennifer;
    • Keszei, Alexander F. A.;
    • Yin, Jay Z.;
    • Beschauner, Tobias;
    • Bayfield, Mark A.;
    • Mazhab-Jafari, Mohammad T.;
    • Sicheri, Frank
    Publication type:
    Article
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    High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5.

    Published in:
    BMC Genetics, 2010, v. 11, p. 106, doi. 10.1186/1471-2156-11-106
    By:
    • Yung-Hao Ching;
    • Munroe, Robert J.;
    • Moran, Jennifer L.;
    • Barker, Anna K.;
    • Evan Mauceli;
    • Tim Fennell;
    • diPalma, Frederica;
    • Lindblad-Toh, Kerstin;
    • Abcunas, Lindsay M.;
    • Gilmour, Joyanna F.;
    • Harris, Tanya P.;
    • Kloet, Susan L.;
    • Yunhai Luo;
    • McElwee, John L.;
    • Weipeng Mu;
    • Park, Hyo K.;
    • Rogal, David L.;
    • Schimenti, Kerry J.;
    • Lishuang Shen;
    • Mami Shindo
    Publication type:
    Article
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    Characterization of Gfat1 (zeppelin) and Gfat2 , Essential Paralogous Genes Which Encode the Enzymes That Catalyze the Rate-Limiting Step in the Hexosamine Biosynthetic Pathway in Drosophila melanogaster.

    Published in:
    Cells (2073-4409), 2022, v. 11, n. 3, p. 448, doi. 10.3390/cells11030448
    By:
    • Cotsworth, Shawn;
    • Jackson, Catherine J.;
    • Hallson, Graham;
    • Fitzpatrick, Kathleen A.;
    • Syrzycka, Monika;
    • Coulthard, Alistair B.;
    • Bejsovec, Amy;
    • Marchetti, Marcella;
    • Pimpinelli, Sergio;
    • Wang, Simon J. H.;
    • Camfield, Robert G.;
    • Verheyen, Esther M.;
    • Sinclair, Donald A.;
    • Honda, Barry M.;
    • Hilliker, Arthur J.
    Publication type:
    Article
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    Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1207, doi. 10.1038/ejhg.2009.40
    By:
    • Harmsen, May-Britt;
    • Azzarello-Burri, Silvia;
    • García González, M Mar;
    • Gillessen-Kaesbach, Gabriele;
    • Meinecke, Peter;
    • Müller, Dietmar;
    • Rauch, Anita;
    • Rossier, Eva;
    • Seemanova, Eva;
    • Spaich, Christiane;
    • Steiner, Bernhard;
    • Wieczorek, Dagmar;
    • Zenker, Martin;
    • Kutsche, Kerstin
    Publication type:
    Article
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