Abstract：
:Achromatopsia (ACHM) is caused by a progressive loss of cone photoreceptors leading to color blindness and poor visual acuity. Animal studies and human clinical trials have shown that gene replacement therapy with adeno-associate virus (AAV) is a viable treatment option for this disease. Although there have been successful attempts to optimize capsid proteins for increased specificity, it is simpler to restrict expression via the use of cell type-specific promoters. To target cone photoreceptors, a chimeric promoter consisting of an enhancer element of interphotoreceptor retinoid-binding protein promoter and a minimal sequence of the human transducin alpha-subunit promoter (IRBPe/GNAT2) was created. Additionally, a synthetic transducin alpha-subunit promoter (synGNAT2/GNAT2) containing conserved sequence blocks located downstream of the transcriptional start was created. The strength and specificity of these promoters were evaluated in murine retina by immunohistochemistry. The results showed that the chimeric, (IRBPe/GNAT2) promoter is more efficient and specific than the synthetic, synGNAT2/GNAT2 promoter. Additionally, IRBPe/GNAT2-mediated expression was found in all cone subtypes and it was improved over existing promoters currently used for gene therapy of achromatopsia.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Dyka FM,Boye SL,Ryals RC,Chiodo VA,Boye SE,Hauswirth WWdoi
10.1007/978-1-4614-3209-8_87subject
Has Abstractpub_date
2014-01-01 00:00:00pages
695-701eissn
0065-2598issn
2214-8019journal_volume
801pub_type
杂志文章abstract：:Plasma oxytocin (OT) levels are strongly correlated with inhibition of ingestion in many models of stimulated food and NaCl intake in rats, but peripheral administration of OT or OT antagonists has little or no effect on these behaviors. These findings led us to propose that central OT secretion from parvocellular neu...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：1995-01-01 00:00:00
abstract：:Various disciplines of chemical engineering, especially thermodynamics and kinetics, play an important role in medicinal research and this has been particularly recognized during the last 10-15 years (von Stockar and van der Wielen, J Biotechnol 59:25, 1997; Prausnitz, Fluid Phase Equilib 53:439, 1989; Prausnitz, Pure...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-08939-3_10
更新日期：2015-01-01 00:00:00
abstract：:This chapter provides an overview of diet-gene interaction and the role of dietary factors in human health and disease. Human master control genes that regulate processes of fundamental importance, such as cell proliferation and the immune response, are introduced and their modulation by nutraceuticals, produced by pl...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-7347-4_2
更新日期：2010-01-01 00:00:00
abstract：:Using bioconjugated dye-doped silica nanoparticles (NPs), we have developed a bioassay for the accurate determination of a single bacterial cell within 20 minutes without any signal amplification or sample enrichment. The antibody-conjugated NPs can specifically and quantitatively detect bacteria, such as Escherichia ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-76713-0_10
更新日期：2007-01-01 00:00:00
abstract：:Mankind has always been interested in investigating and searching for solutions regarding the body deterioration due to factors such as disease, damage caused by trauma, toxins or radiation or just the process of ageing. Here, we summarize the history of scientific advances in solid organ transplantation, in the areas...
journal_title：Advances in experimental medicine and biology
pub_type： 历史文章,杂志文章
doi：10.1007/978-1-4614-2098-9_2
更新日期：2012-01-01 00:00:00
abstract：:There was great individual variation in the elevations of serum cholesterol concentrations in a Wistar strain of rats by the ingestion of a large amount of cholesterol, although their cholesterol concentrations were almost identical while under the feeding of a regular stock diet. Their serum total phospholipid and de...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-4618-7_16
更新日期：1976-01-01 00:00:00
abstract：:The successful entry of herpes simplex virus (HSV) into a cell is a complex process requiring the interaction of several surface viral glycoproteins with host cell receptors. These viral glycoproteins are currently thought to work sequentially to trigger fusogenic activity, but the process is complicated by the fact t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-7230-7_1
更新日期：2018-01-01 00:00:00
abstract：:In the microenvironment of solid growing tumors, pronounced hypoxia or extracellular acidosis is commonly found. The aim of this study was the analysis of the cytotoxic effect of different chemotherapeutic agents (cisplatin, daunorubicin, docetaxel) under these conditions in vitro. Prostate carcinoma cells (R3327-AT1)...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-71764-7_21
更新日期：2007-01-01 00:00:00
abstract：:Escherichia coli is one of the most-studied species of bacteria due to its frequent incidence in diverse environments and hosts, as well as its use as a tool in molecular biology. Most E. coli strains are commensal, in that they colonize the host without causing disease; however, some strains of E. coli are pathogens ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-20215-0_9
更新日期：2016-01-01 00:00:00
abstract：:The effects of audiovisual stimulation on the temporal patterns of V(T), T(I), T(E) were studied in 11 healthy subjects. 75 datasets of steady-state breathing each of eight minutes in duration were obtained during low wakefulness (lying still, eyes closed), low wakefulness with calibrated thermal pain stimulation and ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-73693-8_83
更新日期：2008-01-01 00:00:00
abstract：:The increased Ca(2+)-responsiveness in end-stage human heart failure cannot be attributed to contractile protein isoform changes, but rather is the complex resultant of changes in degree of phosphorylation of VLC-2 and TnI. Despite the decreased basal level of VLC-2 phosphorylation the response to VLC-2 dephosphorylat...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-9029-7_1
更新日期：2003-01-01 00:00:00
abstract：:Signaling in tenocytes during development, homeostasis and injury involves multiple and redundant pathways. Given that tendons transmit mechanical forces from muscle to bone to effect movement, a key function for tenocytes is the detection of and response to mechanical stimulation. Mechanotransduction involves matrix-...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-33943-6_7
更新日期：2016-01-01 00:00:00
abstract：:Various commercial vaccines are used for immunization against hepatitis B. However, these immunotherapeutic vaccines require invasive administration, which can induce side effects, and require multiple shots to elicit an immune response, limiting their efficacy. Compared to traditional hepatitis B vaccines, polymer na...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-0950-2_16
更新日期：2018-01-01 00:00:00
abstract：:Severe kyphoscoliosis can cause chronic respiratory failure. Noninvasive mechanical ventilation (NIMV) is a new optional treatment for such patients. The aim of this study was to evaluate the effectiveness of average volume-assured pressure support (AVAPS) NIMV in patients with kyphoscoliotic chronic respiratory failu...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2014_68
更新日期：2015-01-01 00:00:00
abstract：:Long before the RNA degrading exosome was first described in the yeast Saccharomyces cerevisiae, the use of autoantibodies found in the sera of certain autoimmune patients allowed the identification of a complex of polypeptides which later appeared to be the human exosome. Today, the most extensively documented associ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：2010-01-01 00:00:00
abstract：:Members of the tripartite motif (TRIM) protein family are found in all multicellular eukaryotes and function in a wide range of cellular processes such as cell cycle regulation, differentiation, development, oncogenesis and viral response. Over the past few years, several TRIM proteins have been reported to control ge...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-5398-7_5
更新日期：2012-01-01 00:00:00
abstract：:Recently, a role for SUMO modification outside of the nucleus has emerged. Although the number of extranuclear proteins known to be sumoylated is comparatively small, ion channels represent one important new class of these proteins. Ion channels are responsible for the control of membrane excitability and therefore ar...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-50044-7_8
更新日期：2017-01-01 00:00:00
abstract：:We recently reported that volatile anaesthetics directly depress the isolated glomus cell response to hypoxia, halothane more so than sevoflurane, in a manner mimicking the action of these agents on the human hypoxic ventilatory response. We wished to extend these investigations to action of another agent (isoflurane)...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-5692-7_41
更新日期：2010-01-01 00:00:00
abstract：:This chapter represents a novel view of modeling in hematopoiesis, synthesizing both deterministic and stochastic approaches. Whereas the stochastic models work in situations where chance dominates, for example when the number of cells is small, or under random mutations, the deterministic models are more important fo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-2095-2_7
更新日期：2014-01-01 00:00:00
abstract：:Three experiments were conducted for the present study. First, to elucidate the mechanism and functional significance underlying ischemic vasoconstriction, we investigated the relationship between arteriolar constriction and tissue energy metabolism during bilateral common carotid artery occlusion in gerbils. Second, ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4939-0620-8_33
更新日期：2014-01-01 00:00:00
abstract：:Transient ischemic attack (TIA) is a major complication in patients with carotid artery stenosis. Patients with severe stenosis sometimes complain of orthostatic dizziness, such as syncope. The purpose of this study was to examine the usefulness of near-infrared spectroscopy (NIRS) for evaluating cerebral circulation ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-7411-1_62
更新日期：2013-01-01 00:00:00
abstract：:In summary, we have presented evidence which relates to the action pathway of hormonal control of glycogen metabolism. In the case of insulin, there are changes demonstrable in the cyclic AMP-dependent protein kinase and also in the phosphoprotein phosphatase, under conditions where no direct relationship to either cy...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4757-0734-2_6
更新日期：1979-01-01 00:00:00
abstract：:Ceramides are bioactive sphingolipids that support the structure of the plasma membrane and mediate numerous cell-signaling events in eukaryotic cells. The finding that ceramides act as second messengers transducing cellular signals has attracted substantial attention in several fields of Biology. Since all cells cont...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-21735-8_15
更新日期：2019-01-01 00:00:00
abstract：:The United States (US) Food and Drug Administration (FDA) is a regulatory agency that has oversight for a wide range of products entering the US market, including gene and cell therapies. The regulatory approach for these products is similar to other medical products within the United States and consists of a multitie...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-18618-4_1
更新日期：2015-01-01 00:00:00
abstract：:Pre-eclampsia is a pregnancy-specific hypertensive disorder that affects 2-8 % of pregnancies. This disorder can lead to seizure, multi-organ failure and maternal death. The best approach to prevent pre-eclampsia-associated adverse outcomes is to be able to prevent pre-eclampsia as early as possible. Unfortunately, cu...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-42044-8_12
更新日期：2016-01-01 00:00:00
abstract：:V(D)J recombination not only comprises the molecular mechanism that insures diversity of the immune system but also constitutes a critical checkpoint in the developmental program of B- and T-lymphocytes. The analysis of human patients with Severe Combined Immune Deficiency (SCID) has contributed to the understanding o...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-0296-2_4
更新日期：2009-01-01 00:00:00
abstract：:Our own studies and those of others have shown that defects in essential fatty acid (EFA) metabolism occurs in age-related disorders such as obesity, type 2 diabetes mellitus, hypertension, atherosclerosis, coronary heart disease, immune dysfunction and cancer. It has been noted that in all these disorders there could...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-42667-5_3
更新日期：2020-01-01 00:00:00
abstract：:Hypoxia, one of the most common causes of kidney injury, is a key pathological condition in various kidney diseases. Renal fibrosis is the terminal pathway involved in the continuous progression of chronic kidney disease (CKD), characterized by glomerulosclerosis and tubulointerstitial fibrosis (TIF). Recent studies h...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-8871-2_23
更新日期：2019-01-01 00:00:00
abstract：:Four new triterpene saponins of the oleanan series-melilotosides I, II, III, IV and nonglycosylated soyasapogenol B have been isolated from roots of Melilotus albus Medik. (Leguminosae) and four steroid saponins were isolated from M. tauricus (Bieb.) ser. seeds. The chemical structure of the saponins and of their agly...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4613-0413-5_18
更新日期：1996-01-01 00:00:00
abstract：:Over the last few decades, Drosophila cancer models have made great contributions to our understanding toward fundamental cancer processes. Particularly, the development of genetic mosaic technique in Drosophila has enabled us to recapitulate basic aspects of human cancers, including clonal evolution, tumor microenvir...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-0529-0_10
更新日期：2018-01-01 00:00:00
