Now showing items 1-6 of 6

    • Analysis of Somatic Microsatellite Indels Identifies Driver Events in Human Tumors 

      Maruvka, Yosef; Mouw, Kent; Karlic, Rosa; Parasuraman, Prasanna; Kamburov, Atanas; Polak, Paz; Haradhvala, Nicholas; Hess, Julian; Rheinbay, Esther; Brody, Yehuda; Koren, Amnon; Braunstein, Lior; D'Andrea, Alan; Lawrence, Michael; Bass, Adam; Bernards, Andre; Michor, Franziska; Getz, Gad (Springer Science and Business Media LLC, 2017-09-11)
      Microsatellites (MSs) are tracts of variable-length repeats of short DNA motifs that exhibit high rates of mutation in the form of insertions or deletions (indels) of the repeated motif. Despite their prevalence, the ...
    • CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies 

      Widemann, Brigitte C.; Acosta, Maria T.; Ammoun, Sylvia; Belzberg, Allan J.; Bernards, Andre; Blakeley, Jaishri; Bretscher, Antony; Cichowski, Karen Marie; Clapp, D. Wade; Dombi, Eva; Evans, Gareth D.; Ferner, Rosalie; Fernandez-Valle, Cristina; Fisher, Michael J.; Giovannini, Marco; Gutmann, David H.; Hanemann, C. Oliver; Hennigan, Robert; Huson, Susan; Ingram, David; Kissil, Joe; Korf, Bruce R.; Legius, Eric; Packer, Roger J.; McClatchey, Andrea I.; McCormick, Frank; North, Kathryn; Pehrsson, Minja; Plotkin, Scott Randall; Ramesh, Vijaya; Ratner, Nancy; Schirmer, Susann; Sherman, Larry; Schorry, Elizabeth; Stevenson, David; Stewart, Douglas C; Ullrich, Nicole Johnson; Bakker, Annette C.; Morrison, Helen (Wiley-Blackwell, 2014)
      The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's ...
    • A Drosophila screen identifies neurofibromatosis-1 genetic modifiers involved in systemic and synaptic growth 

      Walker, James A; Bernards, André (Landes Bioscience, 2014)
      Neurofibromatosis type 1 (NF1) is caused by loss of a negative regulator of Ras oncoproteins. Unknown genetic modifiers have been implicated in NF1’s characteristic variability. Drosophila melanogaster dNf1 phenotypes ...
    • Genetic and Functional Studies Implicate Synaptic Overgrowth and Ring Gland cAMP/PKA Signaling Defects in the Drosophila melanogaster Neurofibromatosis-1 Growth Deficiency 

      Walker, James A.; Gouzi, Jean Y.; Long, Jennifer B.; Huang, Sidong; Maher, Robert C.; Xia, Hongjing; Khalil, Kheyal; Ray, Arjun; Van Vactor, David; Bernards, René; Bernards, André (Public Library of Science, 2013)
      Neurofibromatosis type 1 (NF1), a genetic disease that affects 1 in 3,000, is caused by loss of a large evolutionary conserved protein that serves as a GTPase Activating Protein (GAP) for Ras. Among Drosophila melanogaster ...
    • Genome-wide identification of microRNAs regulating cholesterol and triglyceride homeostasis 

      Wagschal, Alexandre; Najafi-Shoushtari, S Hani; Wang, Lifeng; Goedeke, Leigh; Sinha, Sumita; deLemos, Andrew S; Black, Josh C; Ramírez, Cristina M; Li, Yingxia; Tewhey, Ryan; Hatoum, Ida; Shah, Naisha; Lu, Yong; Kristo, Fjoralba; Psychogios, Nikolaos; Vrbanac, Vladimir; Lu, Yi-Chien; Hla, Timothy T; de Cabo, Rafael; Tsang, John S; Schadt, Eric; Sabeti, Pardis Christine; Kathiresan, Sekar; Cohen, David E; Whetstine, Johnathan; Chung, Raymond Taeyong; Fernández-Hernando, Carlos; Kaplan, Lee Michael; Bernards, Andre; Gerszten, Robert Edgardo; Naar, Anders Michael (Springer Nature, 2015)
      Genome-wide association studies (GWASs) have linked genes to various pathological traits. However, the potential contribution of regulatory noncoding RNAs, such as microRNAs (miRNAs), to a genetic predisposition to ...
    • Notch signaling expands a pre-malignant pool of T-cell acute lymphoblastic leukemia clones without affecting leukemia-propagating cell frequency 

      Blackburn, Jessica S.; Liu, Sali; Raiser, Dave Michael; Martinez, Sarah A.; Feng, Hui; Meeker, Nathan D.; Gentry, Jeffery; Neuberg, Donna S.; Look, A. Thomas; Ramaswamy, Sridhar; Bernards, Andre; Trede, Nikolaus S.; Langenau, David M. (2012)
      NOTCH1 pathway activation contributes to the pathogenesis of over 60% of T-cell acute lymphoblastic leukemia (T-ALL). While Notch is thought to exert the majority of its effects through transcriptional activation of Myc, ...