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  1. Article

    Open Access

    Abnormal glycosylation in Joubert syndrome type 10

    The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-y...

    Megan S. Kane, Mariska Davids, Michelle R. Bond, Christopher J. Adams in Cilia (2017)

  2. Article

    Open Access

    Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

    A Onoufriadis, R Hjeij, CM Watson, CE Slagle, NT Klena, GW Dougherty, M Kurkowiak in Cilia (2015)

  3. Article

    Open Access

    Loss of primary cilia occurs early in breast cancer development

    Primary cilia are microtubule-based organelles that protrude from the cell surface. Primary cilia play a critical role in development and disease through regulation of signaling pathways including the Hedgehog...

    Ina Menzl, Lauren Lebeau, Ritu Pandey, Nadia B Hassounah, Frank W Li, Ray Nagle in Cilia (2014)

  4. No Access

    Chapter

    Small Size, Big Impact: Bacterial Functional Nucleic Acids and Their Applications

    Genome mining efforts carried out across diverse bacterial genomes over the past two decades have paid off handsomely, leading to the discovery of a plethora of regulatory RNAs. These RNAs include riboswitches...

    Wendy W. K. Mok, Simon A. McManus, Yingfu Li in Chemical Biology of Nucleic Acids (2014)

  5. No Access

    Chapter

    Diastereomer-Specific Repertoire of 7′R- or 7′S-Me-Carba-Locked Nucleic Acids (cLNAs) in Antisense Oligo/RNA Duplexes and Engineering of Physico-chemical and Enzymological Properties

    Modified oligos (AON), with pure 2′, 4′-locked 7′S- or 7′R-Me-cLNA-A, -G, -MeC, and -T (Upadhayaya et al., J Org Chem 76:4408–4431, 2011; Srivastava et al., J Am Chem Soc 129:8362–8379, 2007), show higher RNA aff...

    Qing Li, Oleksandr Plashkevych, Ram Shankar Upadhayaya in Chemical Biology of Nucleic Acids (2014)

  6. Article

    Open Access

    Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

    Ciliopathies encompass a broad array of clinical findings associated with genetic defects in biogenesis and/or function of the primary cilium, a ubiquitous organelle involved in the transduction of diverse bio...

    Rivka A Rachel, Tiansen Li, Anand Swaroop in Cilia (2012)

  7. Article

    Open Access

    Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles

    H May-Simera, R Rachel, B Choi, T Li, T Friedman, A Swaroop, M Kelley in Cilia (2012)

  8. Article

    Open Access

    Tubby is required for trafficking G protein-coupled receptors to neuronal cilia

    Tubby is the founding member of the tubby-like family of proteins. The naturally occurring tubby mutation in mice causes retinitis pigmentosa, hearing loss and obesity. Tubby has been proposed to function as an a...

    Xun Sun, James Haley, Oleg V Bulgakov, Xue Cai, James McGinnis, Tiansen Li in Cilia (2012)

  9. No Access

    Chapter

    Fragile X Mental Retardation Protein and Stem Cells

    Stem cells, which can self-renew and produce different cell types, are regulated by both extrinsic signals and intrinsic factors. Fragile X syndrome, one of the most common forms of inherited mental retardatio...

    Abrar Qurashi, Xuekun Li, Peng ** in Modeling Fragile X Syndrome (2012)

  10. Protocol

    Application of siRNA Against SARS in the Rhesus Macaque Model

    Containment of the SARS coronavirus (SCV) outbreak was accompanied by the rapid characterization of this new pathogen's genome sequence in 2003, encouraging the development of anti-SCV therapeutics using short...

    Qingquan Tang, Baojian Li, Martin Woodle, Patrick Y. Lu in RNAi (2008)

  11. No Access

    Protocol

    Nanotechnology

    Microarrays are important tools for high-throughput analysis of biomolecules. The use of microarrays for parallel screening of nucleic acid and protein profiles has become an industry standard. A few limitatio...

    Hua Chen, Jun Li in Microarrays (2007)

  12. No Access

    Chapter

    Microarrays and DNA-Chips in the Analysis of Genetic Aberrations

    Fluorescence in situ hybridization (FISH) is a precise technique to determine copy numbers of a particular sequence in individual cells with a resolution better than 30 Kb, but requires a priori knowledge of t...

    Uwe R. Müller, Y. Paul Bao, Guangshan Li, **nying **e in FISH Technology (2002)