• BGEM: An in situ hybridization database of gene expression in the embryonic and adult mouse nervous system

      Magdaleno, S; Jensen, P; Brumwell, CL; Seal, A; Lehman, K; Asbury, A; Cheung, T; Cornelius, T; Batten, DM; Eden, C; Norland, SM; Rice, DS; Dosooye, N; Shakya, S; Mehta, P; Curran, T (2006-01-01)
    • Caregiving, intellectual disability, and dementia: Report of the Summit Workgroup on Caregiving and Intellectual and Developmental Disabilities

      Heller, T; Scott, HM; Janicki, MP; Esbensen, A; Fazio, S; Yoshizaki-Gibbons, H; Hartley, DH; Jokinen, N; Kallmyer, B; Keller, S; Magana, S; Marsack, C; McCallion, P; Perkins, E; Putnam, M; Qualls, S; Rader, R; Roberto, K; Wheeler, B; Mccallion, Philip|0000-0001-5129-6399 (2018-01-01)
      © 2018 Introduction: A specially commissioned working group produced a report on caregiving, intellectual and developmental disabilities (IDDs), and dementia for the National Institutes of Health–located National Research Summit on Care, Services, and Supports for Persons with Dementia and Their Caregivers. Methods: Experts in caregiving, dementia, and IDDs examined the current state of research, policy, and practice related to caregiving and supports; identified the similarities and dissimilarities between IDD-related care and services and the general population affected by dementia; and considered how these findings might contribute to the conversation on developing a dementia care research and services development agenda. Results: Five major areas related to programs and caregiving were assessed: (1) challenges of dementia; (2) family caregiving interventions; (3) supportive care settings; (4) effects of diversity; and (5) bridging service networks of aging and disability. Discussion: Recommendations included increasing supports for caregivers of adults with IDDs and dementia; increasing research on community living settings and including caregivers of persons with IDDs in dementia research; acknowledging cultural values and practice diversity in caregiving; increasing screening for dementia and raising awareness; and leveraging integration of aging and disability networks.
    • Enhancer of zeste homolog 2 (EZH2) in pediatric soft tissue sarcomas: First implications

      Ciarapica, R; Miele, L; Giordano, A; Locatelli, F; Rota, R; Giordano, Antonio|0000-0002-5959-016X (2011-05-25)
      Soft tissue sarcomas of childhood are a group of heterogeneous tumors thought to be derived from mesenchymal stem cells. Surgical resection is effective only in about 50% of cases and resistance to conventional chemotherapy is often responsible for treatment failure. Therefore, investigations on novel therapeutic targets are of fundamental importance. Deregulation of epigenetic mechanisms underlying chromatin modifications during stem cell differentiation has been suggested to contribute to soft tissue sarcoma pathogenesis. One of the main elements in this scenario is enhancer of zeste homolog 2 (EZH2), a methyltransferase belonging to the Polycomb group proteins. EZH2 catalyzes histone H3 methylation on gene promoters, thus repressing genes that induce stem cell differentiation to maintain an embryonic stem cell signature. EZH2 deregulated expression/function in soft tissue sarcomas has been recently reported. In this review, an overview of the recently reported functions of EZH2 in soft tissue sarcomas is given and the hypothesis that its expression might be involved in soft tissue sarcomagenesis is discussed. Finally, the therapeutic potential of epigenetic therapies modulating EZH2-mediated gene repression is considered. © 2011 Ciarapica et al; licensee BioMed Central Ltd.
    • Evaluating dosage compensation as a cause of duplicate gene retention in Paramecium tetraurelia

      Hughes, T; Ekman, D; Ardawatia, H; Elofsson, A; Liberles, DA; Liberles, David A|0000-0003-3487-8826 (2007-05-22)
      The high retention of duplicate genes in the genome of Paramecium tetraurelia has led to the hypothesis that most of the retained genes have persisted because of constraints due to gene dosage. This and other possible mechanisms are discussed in the light of expectations from population genetics and systems biology. © 2007 BioMed Central Ltd.
    • The latest buzz in comparative genomics

      Kulathinal, RJ; Hartl, DL; Kulathinal, Rob|0000-0003-1907-2744 (2005-02-21)
      A second species of fruit fly has just been added to the growing list of organisms with complete and annotated genome sequences. The publication of the Drosophila pseudoobscura sequence provides a snapshot of how genomes have changed over tens of millions of years and sets the stage for the analysis of more fly genomes. © 2004 BioMed Central Ltd.
    • Tracking adaptive evolutionary events in genomic sequences

      Liberles, DA; Wayne, ML; Liberles, David A|0000-0003-3487-8826 (2002-07-02)
      As more gene and genomic sequences from an increasing assortment of species become available, new pictures of evolution are emerging. Improved methods can pinpoint where positive and negative selection act in individual codons in specific genes on specific branches of phylogenetic trees. Positive selection appears to be important in the interaction between genotype, protein structure, function, and organismal phenotype.