Abstract：
:1. Immunological quantitation of the HPRT proteins, together with DNA and RNA studies have defined further the heterogeneous nature of HPRT-deficiency in our patients. 2. These studies have dictated possible approaches for further characterisation of the HPRT enzyme in our patients. In the two Lesch-Nyhan patients, both the protein and the usual cDNA approach would appear difficult. 3. A BamHI polymorphism has been detected in Patient A. 4. Sequence data confirmed the creation of this BamHI site by a single C----T transition at position 602 in the coding sequence. 5. Sequencing of other patients is proceeding and use is being made of the Polymerase Chain Reaction (PCR)10 for amplification of specific segments of HPRT coding sequence.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Gordon RB,Keough DT,Sculley DG,de Jersey J,Emmerson BT,Beacham IRdoi
10.1007/978-1-4684-5673-8_24subject
Has Abstractpub_date
1989-01-01 00:00:00pages
151-4eissn
0065-2598issn
2214-8019journal_volume
253Apub_type
杂志文章abstract：:The incidence of Squamous Cell Carcinoma (SCG) is growing in certain populations to the extent that it is now the most common skin lesion in young men and women in high ultraviolet exposure regions such as Queensland. In terms of incidence up to 40% of the Australian population over 40 years of age is thought to posse...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-71764-7_11
更新日期：2007-01-01 00:00:00
abstract：:Oxidative stress mediates the cell damage in several neurodegenerative diseases, some of which are Alzheimer's disease (AD), multiple sclerosis and Parkinson's disease (PD). In this study, we investigated whether the taurine-rich cuttlefish extract could exert a protective effect on damaged human neuroblastoma SH-SY5Y...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-94-024-1079-2_22
更新日期：2017-01-01 00:00:00
abstract：:This chapter deals with the classification of Drug Delivery nano Systems (DDnSs) with a Modulatory Controlled Release profile (MCR) denoted as Modulatory Controlled Release nano Systems (MCRnSs). Conventional (c) and advanced (a) DDnSs are denoted by the acronyms cDDnSs and aDDnSs, and can be composed of a single or m...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-08927-0_22
更新日期：2015-01-01 00:00:00
abstract：:We have elaborated the chromosomal editing hypothesis of development. This hypothesis, based on evolutionary arguments, states that the immune system must have evolved from pre-existent cell receptor systems on other tissues. Therefore we feel that what we know about development in the immune system can serve as a pro...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4868-9_8
更新日期：1984-01-01 00:00:00
abstract：:It is well established that palmitoylation plays a key role in the regulation of immune checkpoints, but the technical challenges in detecting protein palmitoylation have significantly prohibited further researches in this field. Till now, different approaches have been proposed, such as mutagenesis, antibody-based me...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-15-3266-5_17
更新日期：2020-01-01 00:00:00
abstract：:Chronic inflammatory diseases of the intestine (i.e. Crohn's and chronic ulcerative colitis- collectively known as inflammatory bowel disease [IBD]) are a very significant public health problem in the United States and other industrialized nations. Thus, effort has been made toward understanding the biological mechani...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-0193-0_35
更新日期：2002-01-01 00:00:00
abstract：:An increasing body of evidence suggests the likelihood of a link between venous and arterial thrombosis. The two vascular complications share several risk factors, such as age, obesity, smoking, diabetes mellitus, blood hypertension, hypertriglyceridemia, and metabolic syndrome. Moreover, there are many examples of co...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/5584_2016_121
更新日期：2017-01-01 00:00:00
abstract：:A high frequency of recombination has been shown to occur during replication of the coronavirus mouse hepatitis virus (MHV) in vitro as well as in vivo. Although sequencing of field strains of coronavirus infectious bronchitis virus (IBV) has indicated that IBV strains also undergo recombination, there has been no exp...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-1899-0_88
更新日期：1995-01-01 00:00:00
abstract：:Parathion is a widely used organophosphoric pesticide which has also been reported to interfere with mouse spermatogenesis. Moreover it has been related to prenatal toxicity in mammals. Sixteen A/ Snell mice were sacrificed at day 17 of pregnancy. Testes and epididymides of the male fetuses were implanted in the allan...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-0089-0_23
更新日期：1998-01-01 00:00:00
abstract：:Serine/threonine kinase Akt is a downstream effector of insulin receptor/PI3K pathway that is involved in many processes, including providing neuroprotection to stressed rod photoreceptor cells. Akt signaling is known to be regulated by the serine/threonine phosphatases, PHLPP (PH domain and leucine rich repeat protei...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-17121-0_55
更新日期：2016-01-01 00:00:00
abstract：:Three-dimensional printing technique has been adapted for orthopedic surgery, and a patient-specific surgical guide (PSG) has been introduced as a convenient surgical instrument and implicated in the ideal positioning of the components, including acetabular and femoral components in total hip arthroplasty (THA). PSG i...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-981-13-1396-7_23
更新日期：2018-01-01 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：:The transient length response of the cat papillary muscle in Ba2+-contracture to step tension reduction was found to comprise four different phases. It is tentatively suggested that the transient response is mostly determined by the kinetics of the attachment and detachment of cross-bridges between actin and myosin fi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4703-3_82
更新日期：1984-01-01 00:00:00
abstract：:Kennedy's disease (KD) or spinobulbar muscular atrophy is a hereditary X-linked, progressive neurodegenerative condition caused by an expansion of the CAG triplet repeat in the first exon of the androgen receptor gene. The phenotype in its full form is only expressed in males and presents as weakness and wasting of th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：2012-01-01 00:00:00
abstract：:Cutaneous receptors in the foot sole appear to contribute to the control of human stance and locomotion. Two approaches were undertaken to establish the characteristics of the receptors in the sole. Psychophysical vibrotactile thresholds (range 25-400 Hz) were determined across the unloaded sole in young and elderly s...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-0713-0_14
更新日期：2002-01-01 00:00:00
abstract：:Fungi that tolerate very high environmental NaCl concentrations are good model systems to study mechanisms that enable them to endure osmotic and salinity stress. The whole genome sequences of six such fungal species have been analysed: Hortaea werneckii, Wallemia ichthyophaga and four Aureobasidium spp.: A. pullulans...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-25304-6_13
更新日期：2016-01-01 00:00:00
abstract：:Epigenetic biomarkers, such as DNA methylation, can increase cancer risk through altering gene expression. The Cancer Genome Atlas (TCGA) Network has demonstrated breast cancer-specific DNA methylation signatures. DNA methylation signatures measured at the time of diagnosis may prove important for treatment options an...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-22909-6_2
更新日期：2016-01-01 00:00:00
abstract：:The Notch pathway is crucial in the regulation of stem cells biology. Notch-mediated signalling controls several aspects of tissue homeostasis in both embryonic and adult tissues, balancing stem cells maintenance and differentiation. Although the major elements of the pathway are well conserved throughout evolution, i...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-89512-3_12
更新日期：2018-01-01 00:00:00
abstract：:In this communication I have attempted to present an overview of some contributions to the understanding of the oviduct-egg interaction in amphibians. According to data from other authors, the vitelline envelope of the newly ovulated egg constitutes a barrier for the passage of spermatozoa. Our results demonstrated th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4613-2255-9_11
更新日期：1986-01-01 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 anagen phase of the hair follicle cycle is when the follicle is configured to grow hair. In short hairs (e.g., mouse underhairs and human eye lashes) anagen phase is short, but in the wool of sheep and in human scalp hair anagen is a prolonged state lasting for years. In this chapter we describe the morphological ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-8195-8_8
更新日期：2018-01-01 00:00:00
abstract：:The heat shock response (HSR) is characterized by the induction of molecular chaperones following a sudden increase in temperature. In eukaryotes, the HSR comprises the set of genes controlled by the transcription factor Hsf1. The HSR is induced by defects in co-translational protein folding, ribosome biogenesis, orga...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-40204-4_3
更新日期：2020-01-01 00:00:00
abstract：:Taurine modulates renal and cardiovascular function. Although the kidney regulates body taurine status, the impact of renal and cardiovascular risk factors, such as dietary intake of excess NaCl and saturated fat, on renal handling of taurine is less clear. One would predict that the kidney would modulate taurine excr...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-33504-9_17
更新日期：2006-01-01 00:00:00
abstract：:This paper develops an analysis of the interaction between circulatory convective and tissue diffusive O2 transport that explains how VO2 max is set by the integrated response to each and every step in the O2 transport chain from atmosphere to mitochondria. We suggest that it is not useful to search for "the" rate lim...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-5481-9_22
更新日期：1988-01-01 00:00:00
abstract：:More than 60 years have elapsed since Barrett described the condition that continues to bear his name. Despite much research, clinical and basic, the defining features and the diagnosis of columnar-lined esophagus (CLO) are still embroiled with controversy and uncertainty. For pathologists, these controversies are not...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-41388-4_7
更新日期：2016-01-01 00:00:00
abstract：:Gastric polyps occur in 1-4 % of patients undergoing gastroscopy. Although most are sporadic, some gastric polyps are part of an underlying hereditary syndrome. Gastric polyps can be seen in each of the well-known gastrointestinal polyposis syndromes, but also in Lynch syndrome and in several rare not primarily gastro...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-41388-4_17
更新日期：2016-01-01 00:00:00
abstract：:The diagnosis of temporomandibular joint (TMJ) disorders consists of clinical (Reaserch Diagnostic Criteria for Temporomandibular Disorders, RDC/TMD) and additional (computer tomography, CT or magnetic resonance imaging, and MRI) examinations. Due to the growing knowledge of pathologic changes within the TMJ, the rese...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-94-007-6627-3_30
更新日期：2013-01-01 00:00:00
abstract：:The solar ultraviolet-B (UVB)/vitamin D/cancer hypothesis was proposed by the brothers Cedric and Frank Garland in 1980. In 2002, the list was increased to 15 types of cancer using data in the 1999 version of the atlas of cancer mortality rates in the United States. Ecological studies of cancer incidence and/or mortal...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-0437-2_4
更新日期：2014-01-01 00:00:00
abstract：:Using several novel in vitro culture systems, we have examined the tissue-specific regulation of the proglucagon-derived peptides, at the levels of proglucagon gene expression and pGdp synthesis and secretion. Our studies indicate that proglucagon gene expression in intenstine, hypothalamus and pancreas is under the r...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4684-5931-9_12
更新日期：1991-01-01 00:00:00
abstract：:Type 1 diabetes was induced in Wistar rats by injection of streptozotocin (STZ). Changes in the myocardial capillary network were examined using the double-staining enzymatic method for alkaline phosphatase (AP) and dipeptidylpeptidase IV (DPPIV) This method allows the identification of the arteriolar (AP-containing) ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-85998-9_29
更新日期：2009-01-01 00:00:00
