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  1. 1
    Reactivating mutant p53 using small molecules as zinc metallochaperones: awakening a sleeping giant in cancer

    Reactivating mutant p53 using small molecules as zinc metallochaperones: awakening a sleeping giant in cancer by Adam R. Blanden, Xin Yu, Stewart N. Loh, Arnold J. Levine, Darren R. Carpizo

    Published 2015
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    Revisão
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  2. 2
    Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations

    Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations by Jeannette L. Usher, David B. Ascher, Douglas E. V. Pires, Anna M. Milan, Tom L. Blundell, L. Ranganath

    Published 2014
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  3. 3
    Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

    Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids by Domenique D. Zomer-van Ommen, L.A.W. Vijftigschild, Evelien Kruisselbrink, Annelotte M. Vonk, Johanna F. Dekkers, Hettie M. Janssens, Karin M. de Winter–de Groot, Cornelis K. van der Ent, Jeffrey M. Beekman

    Published 2015
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  4. 4
    Common and rare variants associated with kidney stones and biochemical traits

    Common and rare variants associated with kidney stones and biochemical traits by Ásmundur Oddsson, Patrick Sulem, Hannes Helgason, Viðar Ö. Eðvarðsson, Guðmar Þorleifsson, Garðar Sveinbjörnsson, Eik Haraldsdottir, Guðmundur I. Eyjólfsson, Ólöf Sigurðardóttir, Ísleifur Ólafsson, Gísli Másson, Hilma Hólm, Daníel F. Guðbjartsson, Unnur Þorsteinsdóttir, Ólafur S. Indridason, Runólfur Pálsson, Kāri Stefánsson

    Published 2015
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  5. 5
    A founder mutation of the potassium channel KCNQ1 in long QT syndrome

    A founder mutation of the potassium channel KCNQ1 in long QT syndrome by Kirsi Piippo, Heikki Swan, Michael Pasternack, Hugh Chapman, Kristian Paavonen, Matti Viitasalo, Lauri Toivonen, Kimmo Kontula

    Published 2001
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  6. 6
    Mutations in DCHS1 cause mitral valve prolapse

    Mutations in DCHS1 cause mitral valve prolapse by Ronen Durst, Kimberly Sauls, David S. Peal, Annemarieke deVlaming, Katelynn Toomer, Maire Leyne, Monica Salani, Michael E. Talkowski, Harrison Brand, M. Perrocheau, Charles E. Simpson, Christopher C. Jett, Matthew R. Stone, Florie A. Charles, Colby Chiang, Stacey N. Lynch, Nabila Bouatia‐Naji, Francesca N. Delling, Lisa A. Freed, Christophe Tribouilloy, Thierry Le Tourneau, Hervé LeMarec, Leticia Fernández‐Friera, Jorge Solı́s, Daniel Trujillano, Stephan Ossowski, Xavier Estivill, Christian Dina, Patrick Bruneval, Adrian H. Chester, Jean‐Jacques Schott, Kenneth D. Irvine, Yaopan Mao, Andy Wessels, Tahirali Motiwala, Michel Pucéat, Yoshikazu Tsukasaki, Donald R. Menick, Harinath Kasiganesan, Xingju Nie, Ann‐Marie Broome, Katherine Williams, Amanda Johnson, Roger R. Markwald, Xavier Jeunemaı̂tre, Albert Hagège, Robert A. Levine, David J. Milan, Russell A. Norris, Susan A. Slaugenhaupt

    Published 2015
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  7. 7
    Molecular analysis of beta zero-thalassemia intermedia in Sardinia

    Molecular analysis of beta zero-thalassemia intermedia in Sardinia by R. Galanello, E Dessi, MA Melis, Maria Addis, MA Sanna, Maria Cristina Rosatelli, F Argiolu, N. Giagu, MP Turco, Enrico Cacace

    Published 1989
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  8. 8
    Mutations of the CD40 Ligand Gene and Its Effect on CD40 Ligand Expression in Patients With X-Linked Hyper IgM Syndrome

    Mutations of the CD40 Ligand Gene and Its Effect on CD40 Ligand Expression in Patients With X-Linked Hyper IgM Syndrome by Kuniaki Seyama, Shigeaki Nonoyama, Ingvild Gangsaas, Diane Hollenbaugh, Henry F. Pabst, Alejandro Aruffo, Hans D. Ochs

    Published 1998
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  9. 9
    Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa

    Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa by Y Jin, HC Dietz, Alan T. Nurden, PF Bray

    Published 1993
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  10. 10
    Mutation and Methylation Analysis of the Chromodomain-Helicase-DNA Binding 5 Gene in Ovarian Cancer

    Mutation and Methylation Analysis of the Chromodomain-Helicase-DNA Binding 5 Gene in Ovarian Cancer by Kylie L. Gorringe, David Y.H. Choong, Louise H. Williams, Manasa Ramakrishna, Anita Sridhar, Wen Qiu, Jennifer L. Bearfoot, Ian Campbell

    Published 2008
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  11. 11
    Moderation of hemophilia A phenotype by the factor V R506Q mutation

    Moderation of hemophilia A phenotype by the factor V R506Q mutation by WC Nichols, Kagehiro Amano, PM Cacheris, MS Figueiredo, K Michaelides, R. Schwaab, Linda Grace Hoyer, R. Ilene Kaufman, David Ginsburg

    Published 1996
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  12. 12
    Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type

    Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type by Khédoudja Nafa, PJ Mason, Peter Hillmen, Lucio Luzzatto, Monica Bessler

    Published 1995
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  13. 13
    Mutations of the p53 and ras genes in childhood t(1;19)-acute lymphoblastic leukemia

    Mutations of the p53 and ras genes in childhood t(1;19)-acute lymphoblastic leukemia by M Kawamura, Akira Kikuchi, Shigetoshi Kobayashi, Ryoji Hanada, Keisuke Yamamoto, Kyohei Horibe, T Shikano, Koji Ueda, Kenshi Hayashi, T Sekiya

    Published 1995
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  14. 14
    Human beta-globin mRNAs that harbor a nonsense codon are degraded in murine erythroid tissues to intermediates lacking regions of exon I or exons I and II that have a cap-like structure at the 5′ termini.

    Human beta-globin mRNAs that harbor a nonsense codon are degraded in murine erythroid tissues to intermediates lacking regions of exon I or exons I and II that have a cap-like stru... by Sai Kiang Lim, Lynne E. Maquat

    Published 1992
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  15. 15
    Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia: WASP Gene Mutations, Protein Expression, and Phenotype

    Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia: WASP Gene Mutations, Protein Expression, and Phenotype by Qili Zhu, Chiaki Watanabe, Ting Liu, Diane Hollenbaugh, R. Michael Blaese, Steven B. Kanner, Alejandro Aruffo, Hans D. Ochs

    Published 1997
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  16. 16
    Genetic and biochemical analysis of transformation-competent, replication-defective simian virus 40 large T antigen mutants

    Genetic and biochemical analysis of transformation-competent, replication-defective simian virus 40 large T antigen mutants by M. Michele Manos, Y Gluzman

    Published 1985
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  17. 17
    Identification of the transcriptional suppressor sof-1 as an alteration in the spo0A protein

    Identification of the transcriptional suppressor sof-1 as an alteration in the spo0A protein by J A Hoch, K Trach, Fujio Kawamura, Haruki Saito

    Published 1985
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  18. 18
    Ultraviolet light protection, enhancement of ultraviolet light mutagenesis, and mutator effect of plasmid R46 in Salmonella typhimurium

    Ultraviolet light protection, enhancement of ultraviolet light mutagenesis, and mutator effect of plasmid R46 in Salmonella typhimurium by Kristien Mortelmans, B. A. D. Stocker

    Published 1976
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  19. 19
    APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain

    APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain by Akira Tamaoka, Asano Odaka, Yohei Ishibashi, M Usami, Naruhiko Sahara, Nobuhiro Suzuki, Nobuyuki Nukina, Hidehiro Mizusawa, S Shoji, Ichiro Kanazawa

    Published 1994
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  20. 20
    <i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

    <i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease by Julia Vodopiutz, Rainer Seidl, Daniela Prayer, Muhammad Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M.S. Mancini, Carolin E. Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas Janecke, Martin Zenker

    Published 2015
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