Abstract：
:Retinoblastoma (Rb) is a malignant tumor that originates from developing retina. Diagnosis based on clinical signs and symptoms and is usually made in children under the age of five years. Mutations in both alleles of the RB1 gene are a prerequisite for this tumor to develop. In most patients with sporadic unilateral Rb, both RB1 gene mutations occur in somatic cells and are not passed over to offspring (nonhereditary Rb). Almost all patients with sporadic bilateral and virtually all patients with familial Rb are heterozygous for RB1 gene mutations that cause predisposition to Rb (hereditary Rb). In families, Rb predisposition is transmitted as an autosomal dominant trait (familial Rb). In addition to Rb, patients with hereditary disease also have an increased risk of tumors outside the eye (second cancer). This risk is enhanced in patients who have received external beam radiotherapy. Analysis of genotype-phenotype associations has shown that the mean number of tumor foci that develop in carriers of mutant RB1 alleles is variable depending on which functions of the normal allele are retained and to what extent. Moreover, phenotypic expression of hereditary retinoblastoma is subject to genetic modification. Identification of the genetic factors that underlie these effects will not only help to arrive at a more precise prognosis but may also point to mechanisms that can be used to reduce the risk of tumor development.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Lohmann Ddoi
10.1007/978-1-4419-6448-9_21subject
Has Abstractpub_date
2010-01-01 00:00:00pages
220-7eissn
0065-2598issn
2214-8019journal_volume
685pub_type
杂志文章,评审abstract：:TRPV5 and TRPV6 are unique members of the TRP super family. They are highly selective for Ca(2+) ions with multiple layers of Ca(2+)-dependent inactivation mechanisms, expressed at the apical membrane of Ca(2+) transporting epithelia, and robustly responsive to 1,25-dihydroxivitamin D(3). These features are well suite...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-007-0265-3_14
更新日期：2011-01-01 00:00:00
abstract：:Oxidative stress (OS) is common in inflammatory conditions and may be important in atopic dermatitis (AD) etiology. The aim of this project was to study the involvement of oxidation in FSL-1 (deacylated lipoprotein)-triggered signaling pathways leading to AD-typical cytokine expression in HaCaT keratinocytes. HaCaT ke...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2014_98
更新日期：2015-01-01 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：:Modern society is witnessing a widespread tendency to postpone parenthood due to a number of socioeconomic factors. This ever-increasing trend relates to both women and men and raises many concerns about the risks and consequences lying beneath the natural process of aging. The negative influence of the advanced mater...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-7783-9_2
更新日期：2014-01-01 00:00:00
abstract：:Time-resolved near-infrared spectroscopy (TRS-NIRS) allows absolute quantitation of deoxygenated haemoglobin and myoglobin concentration ([HHb]) in skeletal muscle. We recently showed that the spatial distribution of peak [HHb] within the quadriceps during moderate-intensity cycling is reduced with progressive hypoxia...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4939-3023-4_2
更新日期：2016-01-01 00:00:00
abstract：:It is now well established that carotid bodies are sensory organs for monitoring arterial blood oxygen levels and trigger reflexes that are critical for maintaining homeostasis during hypoxemia. This review article provides a brief account of the early studies leading to the discovery of the carotid body as a sensory ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-55231-6_1
更新日期：2017-01-01 00:00:00
abstract：:The role of fibrin in the generation of new blood vessels was examined in this study. Using a wound chamber model, we investigated the sequential interactions between endothelial cells and the extracellular matrix during angiogenesis. Silicone tubes 5 mm long and 1.4 mm in internal diameter were sutured to the cut end...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-3806-6_34
更新日期：1990-01-01 00:00:00
abstract：:Reactive oxygen species (ROS) likely play a role in the hypoxic ventilatory response. We determined whether hypoxic responses were influenced by alterations in cellular redox status induced by reductions in superoxide dismutase-1 (SOD-1) activity, a cytosolic anti-oxidant enzyme. Using whole-body, continuous-flow plet...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-73693-8_23
更新日期：2008-01-01 00:00:00
abstract：:The study of patients with movement disorders provides insight into both the functional organization and the neural substrates of the perceptual-motor system. By and large, we feel this source of information has been underutilized within the basic science of motor control. To begin to address this shortcoming, this ch...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-77064-2_19
更新日期：2009-01-01 00:00:00
abstract：:Benign acute childhood myositis (BACM) is a syndrome classically occurring in children during the convalescent phase from a febrile upper respiratory tract infection, most commonly after influenza B. BACM can cause difficulty walking due to severe calf pain. Laboratory results show increased serum creatinine kinase an...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2017_79
更新日期：2018-01-01 00:00:00
abstract：:In an experimental and clinical study a significant reduction of the postoperative edema after extracorporeal extremity perfusion under addition of Aprotinin was observed. Together with reduction of edema usually expected complications like pain and peripheral nerve damage could be reduced significantly. Preliminary, ...
journal_title：Advances in experimental medicine and biology
pub_type： 临床试验,杂志文章
doi：10.1007/978-1-4613-1057-0_73
更新日期：1988-01-01 00:00:00
abstract：:Studies in late gestation fetal sheep have provided several new insights into the regulation of amniotic fluid (AF) volume (AFV): There are four quantitatively important amniotic inflows and outflows that include fetal urine production, lung liquid secretion, swallowing, and intramembranous absorption. Of these, AFV i...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-1031-1_5
更新日期：2014-01-01 00:00:00
abstract：:Proteomics involves large-scale comprehensive study of specific proteomes which have been widely used in the field of biomarker discovery, drug development, disease diagnosis and therapy. Comprehensive proteomics involve two or more proteomics approaches that are confirmatory, complementary, and/or synergistic. Obstru...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-15950-4_32
更新日期：2019-01-01 00:00:00
abstract：:There is a positive correlation between lactate output and insulin secretion but there is no correlation between total islet PEP content and insulin secretion and no correlation between cAMP production and insulin release. Neither PEP or cAMP seem to be primary triggers to insulin release but may rather act as positiv...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9110-8_13
更新日期：1979-01-01 00:00:00
abstract：:Arterial hypertension remains to be a serious problem with considerable morbidity and mortality worldwide in the present age. Hypertension is a major risk factor for cardiovascular diseases such as stroke, myocardial infarction, renal failure, and heart failure. Hypertensive nephropathy is the second leading cause of ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-8871-2_3
更新日期：2019-01-01 00:00:00
abstract：:Memory T-cell generation is limited by activation-induced cell death during the effector T-cell stage. Cell surface proteins are known to transmit signals that either accentuate or limit T-cell death after activation. This chapter will focus on the TNF-receptor family member OX40, which is expressed on effector T cell...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-6451-9_5
更新日期：2010-01-01 00:00:00
abstract：:Epithelial cells and functions of the epithelium are critical to the health of the oral cavity. We used a nonhuman primate model to profile the transcriptome of gingival tissues in health across the lifespan and hypothesized that in older animals, epithelial-related transcriptome patterns would reflect epithelial cell...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-28524-1_11
更新日期：2019-01-01 00:00:00
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：:Ovarian cancer is the fifth most common cancer in women and the leading cause of death from gynaecological malignancy in the Western world. The majority of ovarian cancers are diagnosed at an advanced stage and this is due to lack of a reliable screening test and the vagueness of symptoms. Early diagnosis is key as th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-23730-5_8
更新日期：2015-01-01 00:00:00
abstract：:Endocrine fibroblast growth factors (FGFs) have been recognized as hormones that regulate a variety of metabolic processes. FGF19 is secreted from intestine upon feeding and acts on liver to suppress bile acid synthesis. FGF21 is secreted from liver upon fasting and acts on adipose tissue to promote lipolysis and resp...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-0887-1_2
更新日期：2012-01-01 00:00:00
abstract：:Increasing evidence has shown that mesenchymal stem cells (MSCs) isolated from body tissues are heterogeneous while being examined in vitro and in vivo. Besides some common characteristics, MSCs derived from different tissues exhibit unique biological properties. In addition, the therapeutic effects of MSCs may vary w...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-11096-3_10
更新日期：2019-01-01 00:00:00
abstract：:Mitochondria are independent double-membrane organelles responsible for energy production, specifically by completing oxidative phosphorylation. Mitochondria are essential to regulate energy metabolism, signaling pathways, and cell death. Mitochondrial DNA (mtDNA) can be altered by metabolic disorders, oxidative stres...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-6674-0_6
更新日期：2017-01-01 00:00:00
abstract：:Gremlin is a member of the TGF-β superfamily that can act as a BMP antagonist, and recently, has been described as a ligand of the vascular endothelial growth factor receptor 2 (VEGFR2). Gremlin shares properties with the Notch signaling pathway. Both participate in embryonic development and are reactivated in patholo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-36422-9_6
更新日期：2020-01-01 00:00:00
abstract：:The cerebellum, and the olivo-cerebellar system in particular, may be the central mechanism of a neural clock that provides a rhythmic neural signal used to time motor and cognitive processes. Several independent lines of evidence support this hypothesis. First, the resting membrane potential of neurons in the inferio...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-1782-2_9
更新日期：2014-01-01 00:00:00
abstract：:Our data indicate that the proinflammatory cytokine, IL-1alpha inhibits GR translocation and hormone-induced GR-mediated gene transcription, and, in conjunction with previous in vivo and in vitro studies, can be interpreted to suggest that cytokines have the capacity to contribute to glucocorticoid resistance and thus...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-585-37970-8_7
更新日期：1999-01-01 00:00:00
abstract：:We studied the relationship between serum selenium (Se) and left ventricular performance in 33 patients on maintenance haemodialysis. Low serum Se was frequent. However, there were no significant differences in echocardiographic indices of left ventricular function between patients with serum Se less than 0.9 umol/l a...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-5445-1_22
更新日期：1987-01-01 00:00:00
abstract：:Marijuana cannabinoid receptors (CBR), CB1 and CB2, are G protein-coupled receptors reported to be expressed in brain as well as cells of the periphery. Human peripheral blood mononuclear cells (PBMCs) are reported to express CBR mRNA with CB2 expression higher than CB1 and expression in B cells higher than other cell...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/0-306-47611-8_27
更新日期：2001-01-01 00:00:00
abstract：:The family of TRP channel is comprised of a large group of cation-permeable channels, displaying as signaling integrators for sensing extracellular stimulus and initiating intracellular signaling cascades. This chapter offers a brief review of the signaling molecules related to TRPC channels, the first identified mamm...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-024-1088-4_3
更新日期：2017-01-01 00:00:00
abstract：:We have shown that urinary taurine level may be used as a biomarker of pathological and biochemical lesions. Detection of changes in the urinary concentration of this low molecular weight metabolite indicates biochemical lesions which may also be associated with pathological damage. Hepatotoxic compounds such as CCl4,...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-0182-8_15
更新日期：1996-01-01 00:00:00
abstract：:Available data on systemic treatments in pregnancy-associated breast cancer (PABC) is reviewed in this section. These treatments include chemotherapy, endocrine therapy (ET), small molecule inhibitors, monoclonal antibodies against human epidermal growth factor receptor 2 (EGFR-2) also known as HER2; and human epiderm...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-41596-9_15
更新日期：2020-01-01 00:00:00
