תוצאות חיפוש

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

קבל טקסט מלא

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

קבל טקסט מלא

Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids מאת 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

קבל טקסט מלא קבל טקסט מלא

Common and rare variants associated with kidney stones and biochemical traits מאת 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

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא

Mutations in DCHS1 cause mitral valve prolapse מאת 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

קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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... מאת Sai Kiang Lim, Lynne E. Maquat

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא

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 מאת Akira Tamaoka, Asano Odaka, Yohei Ishibashi, M Usami, Naruhiko Sahara, Nobuhiro Suzuki, Nobuyuki Nukina, Hidehiro Mizusawa, S Shoji, Ichiro Kanazawa

קבל טקסט מלא

<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease מאת 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

קבל טקסט מלא