Works matching DE "LETHAL mutations"


Results: 375
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    Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.692978
    By:
    • Sałacińska, Kinga;
    • Pinkier, Iwona;
    • Rutkowska, Lena;
    • Chlebna-Sokół, Danuta;
    • Jakubowska-Pietkiewicz, Elżbieta;
    • Michałus, Izabela;
    • Kępczyński, Łukasz;
    • Salachna, Dominik;
    • Jamsheer, Aleksander;
    • Bukowska-Olech, Ewelina;
    • Jaszczuk, Ilona;
    • Jakubowski, Lucjusz;
    • Gach, Agnieszka
    Publication type:
    Article
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    Tumor protein expression of the DNA repair gene BRCA1 and lethal prostate cancer.

    Published in:
    Carcinogenesis, 2020, v. 41, n. 7, p. 904, doi. 10.1093/carcin/bgaa061
    By:
    • Stopsack, Konrad H;
    • Gerke, Travis;
    • Zareba, Piotr;
    • Pettersson, Andreas;
    • Chowdhury, Dipanjan;
    • Ebot, Ericka M;
    • Flavin, Richard;
    • Finn, Stephen;
    • Kantoff, Philip W;
    • Stampfer, Meir J;
    • Loda, Massimo;
    • Fiorentino, Michelangelo;
    • Mucci, Lorelei A
    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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    Edition of TFAM gene by CRISPR/Cas9 technology in bovine model.

    Published in:
    PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213376
    By:
    • de Oliveira, Vanessa Cristina;
    • Moreira, Gabriel Sassarão Alves;
    • Bressan, Fabiana Fernandes;
    • Gomes Mariano Junior, Clésio;
    • Roballo, Kelly Cristine Santos;
    • Charpentier, Marine;
    • Concordet, Jean-Paul;
    • Meirelles, Flávio Vieira;
    • Ambrósio, Carlos Eduardo
    Publication type:
    Article
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