Browsing by Subject "Organ Specificity"
Now showing items 1-14 of 14
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A beta-adrenergic receptor kinase-like enzyme is involved in olfactory signal termination.
(Proc Natl Acad Sci U S A, 1993-02-15)We have previously shown that second-messenger-dependent kinases (cAMP-dependent kinase, protein kinase C) in the olfactory system are essential in terminating second-messenger signaling in response to odorants. We now document ... -
A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter.
(J Cell Mol Med, 2009-04)Genes can maintain spatiotemporal expression patterns by long-range interactions between cis-acting elements. The cystic fibrosis transmembrane conductance regulator gene (CFTR) is expressed primarily in epithelial cells. ... -
Association between novel PLCE1 variants identified in published esophageal cancer genome-wide association studies and risk of squamous cell carcinoma of the head and neck.
(BMC cancer, 2011-06-20)Phospholipase C epsilon 1 (PLCE1) (an effector of Ras) belonging to the phospholipase family plays crucial roles in carcinogenesis and progression of several cancers, including squamous cell carcinoma of the head and neck ... -
beta2-Adrenergic receptor regulation by GIT1, a G protein-coupled receptor kinase-associated ADP ribosylation factor GTPase-activating protein.
(Proc Natl Acad Sci U S A, 1998-11-24)G protein-coupled receptor activation leads to the membrane recruitment and activation of G protein-coupled receptor kinases, which phosphorylate receptors and lead to their inactivation. We have identified a novel ... -
Evaluating testosterone as a phenotypic integrator: From tissues to individuals to species.
(Molecular and cellular endocrinology, 2019-10)Hormones have the potential to bring about rapid phenotypic change; however, they are highly conserved over millions of years of evolution. Here, we examine the evolution of hormone-mediated phenotypes, and the extent to ... -
Gene therapy for glycogen storage diseases.
(Human molecular genetics, 2019-10)The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, ... -
Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease.
(Hum Gene Ther, 2012-05)Pompe disease can be treated effectively, if immune tolerance to enzyme replacement therapy (ERT) with acid α-glucosidase (GAA) is present. An adeno-associated viral (AAV) vector carrying a liver-specific regulatory cassette ... -
Latent factor analysis to discover pathway-associated putative segmental aneuploidies in human cancers.
(PLoS Comput Biol, 2010-09-02)Tumor microenvironmental stresses, such as hypoxia and lactic acidosis, play important roles in tumor progression. Although gene signatures reflecting the influence of these stresses are powerful approaches to link expression ... -
Quantification of the whole-body burden of radiographic osteoarthritis using factor analysis.
(Arthritis Res Ther, 2011)INTRODUCTION: Although osteoarthritis (OA) commonly involves multiple joints, no widely accepted method for quantifying whole-body OA burden exists. Therefore, our aim was to apply factor analytic methods to radiographic ... -
Site-specific retinoic acid production in the brain of adult songbirds.
(Neuron, 2000-08)The song system of songbirds, a set of brain nuclei necessary for song learning and production, has distinctive morphological and functional properties. Utilizing differential display, we searched for molecular components ... -
The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.
(Mol Genet Metab, 2013-11)Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, ... -
Tissue-specific genetic control of splicing: implications for the study of complex traits.
(PLoS Biol, 2008-12-23)Numerous genome-wide screens for polymorphisms that influence gene expression have provided key insights into the genetic control of transcription. Despite this work, the relevance of specific polymorphisms to in vivo expression ... -
Transcription factors MYOCD, SRF, Mesp1 and SMARCD3 enhance the cardio-inducing effect of GATA4, TBX5, and MEF2C during direct cellular reprogramming.
(PLoS One, 2013)Transient overexpression of defined combinations of master regulator genes can effectively induce cellular reprogramming: the acquisition of an alternative predicted phenotype from a differentiated cell lineage. This can ... -
Transient Receptor Potential Vanilloid 4 Ion Channel Functions as a Pruriceptor in Epidermal Keratinocytes to Evoke Histaminergic Itch.
(J Biol Chem, 2016-05-06)TRPV4 ion channels function in epidermal keratinocytes and in innervating sensory neurons; however, the contribution of the channel in either cell to neurosensory function remains to be elucidated. We recently reported TRPV4 ...
