Abstract：
:Smith-Lemli-Opitz Syndrome (SLOS) is a recessive hereditary disease caused by a defect in the last step in cholesterol biosynthesis - the reduction of the Delta7 double bond of 7-dehydrocholesterol (7DHC) - resulting in the abnormal accumulation of 7DHC and diminished levels of Chol in all bodily tissues. Treatment of rats with AY9944 - a drug that inhibits the same enzyme that is genetically defective in SLOS (i.e., DHCR7, 3beta-hydroxysterol-Delta7-reductase) - starting in utero and continuing throughout postnatal life, provides a convenient animal model of SLOS for understanding the disease mechanism and also for testing the efficacy of therapeutic intervention strategies. Herein, the biochemical, morphological, and electrophysiological hallmarks of retinal degeneration in this animal model are reviewed. A high-cholesterol diet partially ameliorates the associated visual function deficits, but not the morphological degeneration. Recent studies using this model suggest that the disease mechanism in SLOS goes well beyond the initial cholesterol pathway defect, including global metabolic alterations, lipid and protein oxidation, and differential expression of hundreds of genes in multiple ontological gene families. These findings may have significant implications with regard to developing more optimal therapeutic interventions for managing SLOS patients.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Fliesler SJdoi
10.1007/978-1-4419-1399-9_55subject
Has Abstractpub_date
2010-01-01 00:00:00pages
481-9eissn
0065-2598issn
2214-8019journal_volume
664pub_type
杂志文章,评审abstract：:In Poland, influenza surveillance is conducted by 16 Provincial Sanitary Epidemiological Stations, headed by the Department of Influenza Research, National Influenza Center at the National Institute of Health - National Institute of Hygiene (NIPH-NIH). During the epidemic season 2016/2017, more than 4000 samples were ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2018_286
更新日期：2019-01-01 00:00:00
abstract：:Immunization of strain 2 guinea pigs with 10(7) syngeneic Ia+ L2C leukemia cells in adjuvant leads to L2C tumor protection. After subsequent challenges with L2C tumor cells, the sera and spleens of the protected guinea pigs had detectable anti-L2C reactivity. The L2C antibody reactivity was preferentially associated w...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-1410-4_7
更新日期：1983-01-01 00:00:00
abstract：:The Na+, K(+)-activated adenosine triphosphatase (ATPase) is present in the membrane of eukaryotic cells and represent a major pathway for Na+ and K+ transport across the plasma membrane. Cardiac glycosides, such as digoxin or ouabain, inhibit this enzyme activity by binding to a specific receptor on the membrane. Stu...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-1893-8_3
更新日期：1995-01-01 00:00:00
abstract：:This review focuses on the role of cerebral blood volume in the intracranial hemodynamics that may influence the pathophysiology of acute mountain sickness (AMS). Cerebral blood flow is elevated in acute hypoxia exposure in humans, but the response in this setting of cerebral blood volume is unknown. After discussing ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-8997-0_11
更新日期：2003-01-01 00:00:00
abstract：:Manipulation of complex objects and tools is a hallmark of many activities of daily living, but how the human neuromotor control system interacts with such objects is not well understood. Even the seemingly simple task of transporting a cup of coffee without spilling creates complex interaction forces that humans need...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-47313-0_4
更新日期：2016-01-01 00:00:00
abstract：:Staphylococcal adherence to an either biotic or abiotic surface is the critical first event in the establishment of an infection with these serious pathogens. Especially Staphylococcus aureus harbours a variety of proteinaceous and non-proteinaceous adhesins that mediate attachment to a multitude of host factors, such...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-007-0940-9_7
更新日期：2011-01-01 00:00:00
abstract：:Tissues are often damaged by physical trauma, infection or tumors. A slight injury heals naturally through the normal healing process, while severe injury causes serious health implications. Therefore, many efforts have been devoted to treat and repair various tissue defects. Recently, tissue engineering approaches ha...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-0950-2_6
更新日期：2018-01-01 00:00:00
abstract：:Heparanase is the principal enzyme that degrades heparan sulfate (HS) in both physiological (HS turnover) and pathological (tumor metastasis, inflammation) cell conditions, catalysing the hydrolysis of the β-1-4 glycosidic bond in -GlcUA-β(1-4)-GlcNX-. Despite efforts to define the minimum trisaccharide sequence that ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-34521-1_6
更新日期：2020-01-01 00:00:00
abstract：:The cerebral tissue oxygenation index (TOI) and fractional tissue oxygen extraction (FTOE) reflect the cerebral oxygenation. We studied the effect of glycaemia on the TOI and FTOE, as measured by near-infrared-spectroscopy (NIRS). We continuously measured TOI, glycaemia, mean arterial blood pressure (MABP), saturation...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-1241-1_66
更新日期：2010-01-01 00:00:00
abstract：:Cyclopiazonic acid (CPA) is a toxic indole tetramic acid that has been isolated from numerous species of Aspergillus and Penicillium. It has been found as a natural contaminant of cheese, corn, peanuts and various feedstuffs. Historically, thin-layer chromatography has been the most widely used method for quantitative...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-0629-4_11
更新日期：2002-01-01 00:00:00
abstract：:The mammalian genome is believed to contain some 30,000 to 40,000 different genes. Of these an estimated 42% have no known function. Genetically engineered mouse models (GEMM) have been a powerful tool available for determining gene function in vivo. In the mammary gland, a variety of genetic engineering approaches ha...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4757-4242-8_20
更新日期：2004-01-01 00:00:00
abstract：:The molecular basis of the biological differences between Yersinia pestis and Yersinia pseudotuberculosis remains largely unknown, and relatively little is known about environmental regulation of gene expression in these bacteria. We used a proteomic approach to explore the regulatory response of each bacterium to car...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-72124-8_11
更新日期：2007-01-01 00:00:00
abstract：:An allosteric mechanism refers to the biological regulation process wherein macromolecules propagate the effect of ligand binding at one site to a spatially distant orthosteric locus, thus affecting activity. The theory has remained a trending topic in biology research for over 50 years, since the understanding of all...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-8719-7_4
更新日期：2019-01-01 00:00:00
abstract：:In order to define the ischemic myocardial injury in terms of the possible alteration of cardiac membrane properties, Rb+ uptake and 3H-ouabain binding to cardiac tissue were compared in normal and ischemic rabbit hearts. In isolated Langendorff or working rabbit hearts, a global ischemia was produced by reducing the ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4895-5_45
更新日期：1984-01-01 00:00:00
abstract：:Immune cell activation is a feature of infection with the human immunodeficiency virus (HIV). Here we report our studies on a cohort of over 400 patients with HIV infection studied cross-sectionally and longitudinally to examine the relationship between markers of immune cell activation and disease progression. To exa...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-1995-9_2
更新日期：1995-01-01 00:00:00
abstract：:Dimethyl sulfoxide (DMSO) is one of the most commonly used solvents for hydrophobic substances in biological experiments. In addition, the compound exhibits a plethora of bioactivities, which makes it of potential pharmacological use of its own. The influence on respiration, and thus on arterial blood oxygenation, of ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2015_187
更新日期：2016-01-01 00:00:00
abstract：:Pepstatin is a low molecular weight, potent inhibitor specific for acid proteases with a Ki value of about 10(-10)M for pepsin. The chemical structure of pepstatin is essentially a hexapeptide which contains two residues of an unusual amino acid, 4-amino-3-hydroxy-6-methylheptanoic acid (statine). The complete structu...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-0719-9_12
更新日期：1977-01-01 00:00:00
abstract：:Do seizures change the brain? Studies on the kindling model--a widely used animal model of epilepsy--suggest that they do. Dr. Racine, one of the pioneers in the kindling field, describes the basic phenomena of kindling, and discusses the possible roles of cell growth and cell death in this model. ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-1335-3_16
更新日期：2002-01-01 00:00:00
abstract：:The tumor microenvironment is composed of cancer cells, noncancer cells (e.g., immune cells, stromal cells, endothelial cells, and adipocytes), and various mediators (e.g., cytokines, chemokines, growth factors, and humoral factors) that work together to support cancer growth, progression, and resistance to therapies....
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-35727-6_7
更新日期：2020-01-01 00:00:00
abstract：:Central pattern generators located in the brainstem regulate ventilatory behaviors in vertebrates. The development of the isolated brainstem preparation has allowed these neural networks to be characterized in a number of aquatic species. The aim of this study was to explore the architecture of the respiratory rhythm-...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-5692-7_1
更新日期：2010-01-01 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：:Earlier we demonstrated that meta-iodobenzylguanidine (MIBG), a specific inhibitor of arginine mono-ADP-ribosylation blocks proliferation and differentiation of chick skeletal myogenic cells in culture (Exp. Cell Res., 1992, 201:33-42). Membrane fractions from 4-day, myotube cultures of embryonic chick muscle cells we...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-8632-0_40
更新日期：1997-01-01 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：:We review results about the structure of administration of chemotherapeutic anti-cancer treatment that we have obtained from an analysis of minimally parameterized mathematical models using methods of optimal control. This is a branch of continuous-time optimization that studies the minimization of a performance crite...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-42023-3_11
更新日期：2016-01-01 00:00:00
abstract：:Pertussis still represents a major cause of morbidity and mortality worldwide. Although vaccination is the most powerful tool in preventing pertussis and despite nearly 70 years of universal childhood vaccination, incidence of the disease has been rising in the last two decades in countries with high vaccination cover...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2019_406
更新日期：2019-01-01 00:00:00
abstract：:Hypoxic/ischemic trauma is a primary factor in the pathology of various vascular, pulmonary, and cerebral disease states. Yet, the signaling mechanisms by which cells respond and adapt to changes in oxygen levels are not clearly established. The effects of hypoxia on the stress- and mitogen-activated protein kinase (S...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/0-306-46825-5_28
更新日期：2000-01-01 00:00:00
abstract：:Intermittent measurement of blood pressure (BP) is frequently performed in newborn babies under intensive care using an inflatable cuff encircling either the arm or leg. This paper describes work aimed at achieving continuous beat-by-beat measurement of the arterial pressure waveform by means of a finger cuff, the pre...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4613-1927-6_56
更新日期：1987-01-01 00:00:00
abstract：:Metastasizing and non-metastasizing transplantable mammary tumors were implanted into female W/Fu rats. A pair of tumors were employed, the SMT-2A and MT-W9B. When these tumors were exposed to water bath heating at 43.5 degrees C for 60 minutes, a significantly longer tumor-free growth delay was obtained in the metast...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4388-2_15
更新日期：1982-01-01 00:00:00
abstract：:As longevity expands, women are spending a third of their existence in menopause and beyond. The vast majority suffer from symptoms that negatively impact their quality of life. Systemic vasomotor symptoms (VMS) are the classic cluster affecting 80% of peri- and post-menopausal women. Once thought to be relatively bri...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-38474-6_6
更新日期：2020-01-01 00:00:00
abstract：:A stable cyclized 9-mer peptide (cP) containing the active site of alpha-alpha fetoprotein (alphaFP) has been shown to be effective for prevention of estrogen-stimulated tumor cell proliferation in culture or of xenographt growth in immunodeficient mice. cP does not block 17beta-estradiol (E2) binding to its receptors...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-69080-3_45
更新日期：2008-01-01 00:00:00
