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Article
Open AccessAbnormal 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...
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Article
Open AccessGene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
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Article
Open AccessLoss 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...
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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...
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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...
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Article
Open AccessPhotoreceptor 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...
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Article
Open AccessReciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles
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Article
Open AccessTubby 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...
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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...
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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...
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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...
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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...