Browsing HMS Scholarly Articles by Keyword "disease models"

Now showing items 1-13 of 13

    • Characterization of Age-Dependent and Progressive Cortical Neuronal Degeneration in Presenilin Conditional Mutant Mice 

      Wines-Samuelson, Mary; Schulte, Eva C.; Smith, Miriam J.; Aoki, Chiye; Liu, Xinran; Cookson, Mark R.; Kelleher, Raymond J.; Shen, Jie (Public Library of Science, 2010)
      Presenilins are the major causative genes of familial Alzheimer's disease (AD). Our previous study has demonstrated essential roles of presenilins in memory and neuronal survival. Here, we explore further how loss of ...

    • A Complex Extracellular Sphingomyelinase of Pseudomonas aeruginosa Inhibits Angiogenesis by Selective Cytotoxicity to Endothelial Cells 

      Vasil, Michael L.; Stonehouse, Martin J.; Vasil, Adriana I.; Wadsworth, Sandra J.; Goldfine, Howard; Bolcome, Robert E.; Chan, Joanne (Public Library of Science, 2009)
      The hemolytic phospholipase C (PlcHR) expressed by Pseudomonas aeruginosa is the original member of a Phosphoesterase Superfamily, which includes phosphorylcholine-specific phospholipases C (PC-PLC) produced by frank and ...

    • COPI Activity Coupled with Fatty Acid Biosynthesis is Required for Viral Replication 

      Cherry, Sara; Kunte, Amit; Wang, Hui; Coyne, Carolyn; Rawson, Robert B; Perrimon, Norbert (Public Library of Science, 2006)
      During infection by diverse viral families, RNA replication occurs on the surface of virally induced cytoplasmic membranes of cellular origin. How this process is regulated, and which cellular factors are required, has ...

    • DNA Damage and Reactive Nitrogen Species are Barriers to Vibrio cholerae Colonization of the Infant Mouse Intestine 

      Davies, Bryan William; Bogard, Ryan; Dupes, Nicole M.; Gerstenfeld, Tyler A. I.; Simmons, Lyle A.; Mekalanos, John J. (Public Library of Science, 2011)
      Ingested Vibrio cholerae pass through the stomach and colonize the small intestines of its host. Here, we show that V. cholerae requires at least two types of DNA repair systems to efficiently compete for colonization of ...

    • Genetic evidence of serum phosphate-independent functions of FGF-23 on bone 

      Sitara, Despina; Kim, Somi; Razzaque, Mohammed Shawkat; Bergwitz, Clemens; Taguchi, Takashi; Schüler, Christiane; Erben, Reinhold G.; Lanske, Beate Klara Maria (Public Library of Science, 2008)
      Maintenance of physiologic phosphate balance is of crucial biological importance, as it is fundamental to cellular function, energy metabolism, and skeletal mineralization. Fibroblast growth factor-23 (FGF-23) is a master ...

    • Genetic Mechanisms in Apc-Mediated Mammary Tumorigenesis 

      Kuraguchi, Mari; Ohene-Baah, Nana Yaw; Sonkin, Dmitriy; Bronson, Roderick Terry; Kucherlapati, Raju (Public Library of Science, 2009)
      Many components of Wnt/\(\beta\)-catenin signaling pathway also play critical roles in mammary tumor development, yet the role of the tumor suppressor gene APC (adenomatous polyposis coli) in breast oncongenesis is unclear. ...

    • Modeling Spinal Muscular Atrophy in Drosophila 

      Chang, Howard Chia-Hao; Yokokura, Takakazu; Mukherjee, Ashim; Kankel, Mark W.; Sridhar, Vasanthi; Hart, Anne C.; Dimlich, Douglas; Sen, Anindya Kumar; Fulga, Tudor Alexandru; Van Vactor, David L.; Artavanis-Tsakonas, Spiro (Public Library of Science, 2008)
      Spinal Muscular Atrophy (SMA), a recessive hereditary neurodegenerative disease in humans, has been linked to mutations in the survival motor neuron (SMN) gene. SMA patients display early onset lethality coupled with motor ...

    • A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders 

      Deo, Anthony J.; Costa, Ramiro; DeLisi, Lynn E; DeSalle, Rob; Haghighi, Fatemeh (Public Library of Science, 2010)
      Background: For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture. This approach provides an unsatisfactory ...

    • Oral N-Acetyl-Cysteine Attenuates Loss of Dopaminergic Terminals in α-Synuclein Overexpressing Mice 

      Clark, Joanne; Clore, Elizabeth L.; Zheng, Kangni; Adame, Anthony; Masliah, Eliezer; Simon, David K. (Public Library of Science, 2010)
      Levels of glutathione are lower in the substantia nigra (SN) early in Parkinson's disease (PD) and this may contribute to mitochondrial dysfunction and oxidative stress. Oxidative stress may increase the accumulation of ...

    • The Role of Cardiac Troponin T Quantity and Function in Cardiac Development and Dilated Cardiomyopathy 

      Ahmad, Ferhaan; Banerjee, Sanjay K.; Lage, Michele L.; Huang, Xueyin N.; Saba, Samir; Rager, Jennifer; Janczewski, Andrzej M.; Tobita, Kimimasa; Tinney, Joseph P.; Moskowitz, Ivan P.; Keller, Bradley B.; Mathier, Michael A.; Shroff, Sanjeev G.; Smith, Stephen H.; Conner, David Atwater; Perez-Atayde, Antonio Rafael; Seidman, Christine Edry; Seidman, Jonathan G. (Public Library of Science, 2008)
      Background: Hypertrophic (HCM) and dilated (DCM) cardiomyopathies result from sarcomeric protein mutations, including cardiac troponin T (cTnT, TNNT2). We determined whether TNNT2 mutations cause cardiomyopathies by altering ...

    • Screening and Replication using the Same Data Set: Testing Strategies for Family-Based Studies in which All Probands Are Affected 

      Murphy, Amy; Weiss, Scott Tillman; Lange, Christoph (Public Library of Science, 2008)
      For genome-wide association studies in family-based designs, we propose a powerful two-stage testing strategy that can be applied in situations in which parent-offspring trio data are available and all offspring are affected ...

    • Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology 

      Rajpar, M. Helen; McDermott, Ben; Kung, Louise; Eardley, Rachel; Knowles, Lynette; Heeran, Mel; Bateman, John F.; Poulsom, Richard; Arvan, Peter; Kadler, Karl E.; Briggs, Michael D.; Boot-Handford, Raymond P.; Thornton, David James; Wilson, Richard (Public Library of Science, 2009)
      Pathologies caused by mutations in extracellular matrix proteins are generally considered to result from the synthesis of extracellular matrices that are defective. Mutations in type X collagen cause metaphyseal chondrodysplasia ...

    • A Transient Transgenic RNAi Strategy for Rapid Characterization of Gene Function during Embryonic Development 

      Bjork, Bryan Cary; Fujiwara, Yuko; Davis, Shannon W.; Qiu, Haiyan; Saunders, Thomas L.; Sandy, Peter; Orkin, Stuart Holland; Camper, Sally A.; Beier, David Randolph (Public Library of Science, 2010)
      RNA interference (RNAi) is a powerful strategy for studying the phenotypic consequences of reduced gene expression levels in model systems. To develop a method for the rapid characterization of the developmental consequences ...