Works by Choi, Kunho

Results: 15
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    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immunoosseous dysplasia?

    Published in:
    Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0519-7
    By:
    • Morimoto, Marie;
    • Myung, Clara;
    • Beirnes, Kimberly;
    • Kunho Choi;
    • Yumi Asakura;
    • Bokenkamp, Arend;
    • Bonneau, Dominique;
    • Brugnara, Milena;
    • Charrow, Joel;
    • Colin, Estelle;
    • Davis, Amira;
    • Deschenes, Georges;
    • Gentile, Mattia;
    • Giordano, Mario;
    • Gormley, Andrew K.;
    • Govender, Rajeshree;
    • Joseph, Mark;
    • Keller, Kory;
    • Lerut, Evelyne;
    • Levtchenko, Elena
    Publication type:
    Article
    4

    Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

    Published in:
    EMBO Journal, 2007, v. 26, n. 22, p. 4732, doi. 10.1038/sj.emboj.7601885
    By:
    • Hirano, Ryuki;
    • Interthal, Heidrun;
    • Cheng Huang;
    • Nakamura, Tomonori;
    • Deguchi, Kimiko;
    • Choi, Kunho;
    • Bhattacharjee, Meenakshi B;
    • Arimura, Kimiyoshi;
    • Umehara, Fujio;
    • Izumo, Shuji;
    • Northrop, Jennifer L.;
    • Salih, Mustafa A. M.;
    • Inoue, Ken;
    • Armstrong, Dawna L.;
    • Champoux, James J.;
    • Takashima, Hiroshi;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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    Schimke immunoosseous dysplasia: suggestions of genetic diversity.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 273, doi. 10.1002/humu.20432
    By:
    • Clewing, J. Marietta;
    • Fryssira, Helen;
    • Goodman, David;
    • Smithson, Sarah F.;
    • Sloan, Emily A.;
    • Lou, Shu;
    • Huang, Yan;
    • Choi, Kunho;
    • Lücke, Thomas;
    • Alpay, Harika;
    • André, Jean-Luc;
    • Asakura, Yumi;
    • Biebuyck-Gouge, Nathalie;
    • Bogdanovic, Radovan;
    • Bonneau, Dominique;
    • Cancrini, Caterina;
    • Cochat, Pierre;
    • Cockfield, Sandra;
    • Collard, Laure;
    • Cordeiro, Isabel
    Publication type:
    Article
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    Novel small molecules potentiate premature termination codon readthrough by aminoglycosides.

    Published in:
    Nucleic Acids Research, 2016, v. 44, n. 14, p. 6583, doi. 10.1093/nar/gkw638
    By:
    • Baradaran-Heravi, Alireza;
    • Balgi, Aruna D.;
    • Zimmerman, Carla;
    • Kunho Choi;
    • Shidmoossavee, Fahimeh S.;
    • Tan, Jason S.;
    • Bergeaud, Célia;
    • Krause, Alexandra;
    • Flibotte, Stéphane;
    • Yoko Shimizu;
    • Anderson, Hilary J.;
    • Mouly, Vincent;
    • Jan, Eric;
    • Pfeifer, Tom;
    • Jaquith, James B.;
    • Roberge, Michel
    Publication type:
    Article
    12

    Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 11, p. 2572, doi. 10.1093/hmg/dds083
    By:
    • Baradaran-Heravi, Alireza;
    • Cho, Kyoung Sang;
    • Tolhuis, Bas;
    • Sanyal, Mrinmoy;
    • Morozova, Olena;
    • Morimoto, Marie;
    • Elizondo, Leah I.;
    • Bridgewater, Darren;
    • Lubieniecka, Joanna;
    • Beirnes, Kimberly;
    • Myung, Clara;
    • Leung, Danny;
    • Fam, Hok Khim;
    • Choi, Kunho;
    • Huang, Yan;
    • Dionis, Kira Y.;
    • Zonana, Jonathan;
    • Keller, Kory;
    • Stenzel, Peter;
    • Mayfield, Christy
    Publication type:
    Article
    13

    SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
    By:
    • Baradaran-Heravi, Alireza;
    • Raams, Anja;
    • Lubieniecka, Joanna;
    • Cho, Kyoung Sang;
    • DeHaai, Kristi A.;
    • Basiratnia, Mitra;
    • Mari, Pierre-Olivier;
    • Xue, Yutong;
    • Rauth, Michael;
    • Olney, Ann Haskins;
    • Shago, Mary;
    • Choi, Kunho;
    • Weksberg, Rosanna A.;
    • Nowaczyk, Malgorzata J.M.;
    • Wang, Weidong;
    • Jaspers, Nicolaas G.J.;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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