Abstract：
:During the development of an amplification refractory mutation system (ARMS) assay for the detection of the Delta F508 mutation and corresponding normal locus in cystic fibrosis we discovered a family in which a further variant of the sequence exists. PCR amplification and direct sequencing of a region of exon 10 of the CFTR locus indicated the deletion of the three base pairs encoding isoleucine or isoleucine, or possibly the presence of a single base substitution in conjunction with the Delta F508 mutation. The resulting protein has a deletion of an isoleucine residue at position 507 as opposed to the previously described deletion of phenylalanine at position 508. We conclude that the loss of an isoleucine residue at position 507 (Delta I507) is another defective variant of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene product.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Schwarz M,Summers C,Heptinstall L,Newton C,Markham A,Super Mdoi
10.1007/978-1-4684-5934-0_48subject
Has Abstractpub_date
1991-01-01 00:00:00pages
393-8eissn
0065-2598issn
2214-8019journal_volume
290pub_type
杂志文章abstract：:Allospecific suppressor T cells can be generated by allostimulating thymus, spleen and lymph node cells in culture. Bone marrow cells do not yield suppressor lymphocytes. While the efficiency of thymocytes for suppressor cell generation decreases with the age of thymus donors, the efficiency of spleen increases with a...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9101-6_48
更新日期：1979-01-01 00:00:00
abstract：:We have demonstrated that kinins are generated following nasal challenge with allergen of allergic (5.6 +/- 0.17 ng/m-), but not nonallergic (0.04 +/- .02 ng/ml), individuals (n = 8 in each case). The presence of kinin was highly correlated with that of histamine and TAME-esterase activity and with clinical symptoms (...
journal_title：Advances in experimental medicine and biology
pub_type： 临床试验,杂志文章
doi：10.1007/978-1-4757-0154-8_22
更新日期：1986-01-01 00:00:00
abstract：:Tumors derived from the colonic epithelium exhibit cholesterol metabolism which is clearly different from that in fibroblasts, hepatocytes, adrenals, and ovaries. In hepatocytes and fibroblasts MEV inhibition of the rate limiting step in cholesterol synthesis HMG Co A reductase can be overcome by the uptake of LDL. Co...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4613-0399-2_9
更新日期：1996-01-01 00:00:00
abstract：:Tryptophan pyrrole ring cleavage enzymes were assayed in pregnant uterus of mouse. The highest activity was observed at 6.5 days post-coitus (dpc) with a small activity shoulder at 9.5 to 12.5 dpc concepti and placenta. The highest peak at early concepti of 6.5 dpc was coincided with gene expression of tryptophan 2,3-...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-0135-0_50
更新日期：2003-01-01 00:00:00
abstract：:Antigen 43 (Ag43) is a prominent hetero-oligomeric protein complex in the outer membrane of Escherichia coli. It is composed of two subunits. alpha 43 (M(r) 60, 000) and beta 43 (M(r) 53, 000) in 1:1 stoichiometry. alpha 43 is surface expressed, extends beyond the O-side chains of smooth lipopolysaccharide and is boun...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-1828-4_56
更新日期：1997-01-01 00:00:00
abstract：:The analysis of complex biological networks has traditionally relied on decomposition into smaller, semi-autonomous units such as individual signaling pathways. With the increased scope of systems biology (models), rational approaches to modularization have become an important topic. With increasing acceptance of de f...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-7210-1_1
更新日期：2012-01-01 00:00:00
abstract：:Lysosomal storage disorders (LSDs) are one of the most common human genetic metabolic diseases caused by gene mutations. Up to now, more than 70 LSDs have been identified and mainly divided into five categories. LSDs are mainly caused by defects in the function of enzymes or lysosomal-related proteins in lysosomes, wh...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-15-4272-5_5
更新日期：2020-01-01 00:00:00
abstract：:We discuss various methods which can be employed for the comparative analysis of samples of response curves. In the application discussed here, these curves are hazard functions, each generated by the survival data obtained for a cohort of experimental subjects which are fed a specific diet. It is demonstrated how com...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-1959-5_12
更新日期：1998-01-01 00:00:00
abstract：:Immunotherapy with checkpoint inhibitor has been successfully applied in treatment for multiple cancer types, especially for patients at advanced stage. However, response rate of this promising therapy is low, thus requiring biomarkers for precise medication to reduce the ineffective treatment. With multiple retrospec...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-15-3266-5_7
更新日期：2020-01-01 00:00:00
abstract：:Kallikrein was purified from horse kidney by several steps of chromatographic procedure and by affinity chromatography on Sepharose-Concanavaline. Horse urinary kallikrein was previously purified by DE-32 hydroxylapatite and by Sephadex G-100 gel filtration. On the purified final sample of renal and urinary kallikrein...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-0926-1_31
更新日期：1979-01-01 00:00:00
abstract：:The apical plasma membrane domain of retinal pigment epithelial (RPE) cells in the eye faces the outer segment portions of rods and cones and the interphotoreceptor matrix in the subretinal space. Two important receptor-mediated interactions between the apical surface of the retinal pigment epithelium (RPE) and adjace...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-1399-9_15
更新日期：2010-01-01 00:00:00
abstract：:Exercise training (ExT) is widely used for the prevention and treatment of several chronic cardiovascular diseases. However, only recently it started to be recognized as safe and beneficial in pulmonary arterial hypertension. Despite the consistency of its favorable effects on exercise tolerance and quality of life, t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-4307-9_17
更新日期：2017-01-01 00:00:00
abstract：:As a critical post-translational modification, phosphorylation plays important roles in regulating various biological processes, while recent studies suggest that phosphorylation in bacteria is also critical for functional signaling transduction. Since identification of phosphorylation substrates and sites is fundamen...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-94-017-9245-5_16
更新日期：2015-01-01 00:00:00
abstract：:Myocardial ischemia-reperfusion (IR) injury during acute myocardial infarction or open-heart surgery would promote oxidative stress, leading to the accumulation of reactive aldehydes that cause cardiac damage. It has been well demonstrated that aldehyde dehydrogenase (ALDH)-2 is an important cardioprotective enzyme fo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-6260-6_6
更新日期：2019-01-01 00:00:00
abstract：:Tissue engineering is an appealing research field that involves the replacement and repair of damaged cells and tissues. Scientists and researchers are facing a great challenge to design and develop suitable scaffold materials with biological activities for the applications in tissue regeneration. Among a variety of n...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-0445-3_18
更新日期：2018-01-01 00:00:00
abstract：:The evaluation of the transplanted liver health by non-invasive approaches may offer an improvement in early clinical intervention. As transplanted organs have genomes that are distinct from the host's genome, the quantification of the specific DNA of the donated liver in the patient serum will allow us to obtain info...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-42044-8_22
更新日期：2016-01-01 00:00:00
abstract：:Substrate/inhibitor specificities of nucleoside analogues with modified sugar moieties toward highly purified deoxycytidine kinase (dCK) and thymidine kinases (TK1 and TK2) from human leukemic spleen have been examined. Substrate activities of cytosine nucleosides vs dCK were as follows: 2'-fluoro-dC > 2'-O-methyl-C >...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-5381-6_120
更新日期：1998-01-01 00:00:00
abstract：:The role of CD4+ T cells in altering the activity of cytotoxic T lymphocytes (CTL) during infection of the central nervous system (CNS) by the neuroptropic JHMV strain of mouse hepatitis virus was examined. Adoptive transfer of in vitro activated CTL into CD4-depleted and control recipients showed that CTL were not ef...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-5331-1_53
更新日期：1998-01-01 00:00:00
abstract：:The sensory basis upon which judgments of force are made during fatiguing isometric contractions is reviewed. At issue is whether the perception of force is based on centrally generated sensations arising from the motor command, known as the sense of effort, or from peripheral sensations originating in the muscle, and...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4899-1016-5_24
更新日期：1995-01-01 00:00:00
abstract：:Fibers are broadly classified as soluble and insoluble based on their physical or analytical properties. Two human studies have been carried out in this laboratory utilizing soluble gums. The first compared a low fiber diet to the diet with an average of 19.5 g of added fiber per day from cellulose, an insoluble fiber...
journal_title：Advances in experimental medicine and biology
pub_type： 临床试验,杂志文章
doi：10.1007/978-1-4684-5784-1_2
更新日期：1990-01-01 00:00:00
abstract：:Cell proliferation, apoptosis and differentiation are essential processes from the early phases of embryogenesis to adult tissue formation and maintenance. These mechanisms also play a key role in embryonic stem cells (ESCs) that are able to proliferate maintaining pluripotency and, at the same time, to give rise to a...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/5584_2019_423
更新日期：2020-01-01 00:00:00
abstract：:A number of congenital muscle diseases and disorders are caused by mutations in genes that encode the proteins present in or associated with the thin filaments of the muscle sarcomere. These genes include alpha-skeletal actin (ACTA1), beta-tropomyosin (TPM2), alpha-tropomyosin slow (TPM3), nebulin (NEB), troponin I fa...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-85766-4_12
更新日期：2008-01-01 00:00:00
abstract：:Recent progress in tissue-resident adult stem/progenitor cell research has inspired great interest because these immature cells from your own body can act as potential, easily accessible cell sources for cell transplantation in regenerative medicine and cancer therapies. The use of adult stem/progenitor cells endowed ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-2098-9_12
更新日期：2012-01-01 00:00:00
abstract：:Many similarities were observed in the behavioral and neurochemical actions of ethanol and chlordiazepoxide (CDZ) suggesting that these agents may share common mechanisms of action. However, similarities in these actions could not be explained by effects on a benzodiazepine binding site, since only CDZ interacted with...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-1419-7_76
更新日期：1980-01-01 00:00:00
abstract：:Mortality from plague is high if not treated with the proper antibiotics within 18-24 hours after onset of symptoms. The process of antibiotic susceptibility determination of Yersinia pestis isolated from blood samples may extend from 4 to more than 7 days, since the in vitro growth is very slow. To accelerate this pr...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-72124-8_31
更新日期：2007-01-01 00:00:00
abstract：:Langerhans cells (LCs) are immune cells that reside in the stratified epithelium of the skin and mucosal membranes. They play a range of roles in the skin, including antigen presentation and maintenance of peripheral tolerance. Reports of LC numbers have been variable in different cancer types, with the majority of st...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-49270-0_8
更新日期：2020-01-01 00:00:00
abstract：:A wealth of evidence suggests that proteins from prion protein (PrP) family contribute to tumorigenesis in many types of cancers, including pancreatic ductal adenocarcinoma (PDAC), breast cancer, glioblastoma, colorectal cancer, gastric cancer, melanoma, etc. It is well documented that PrP is a biomarker for PDAC, bre...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-5765-6_13
更新日期：2017-01-01 00:00:00
abstract：:Effects of taurine supplementation on lipid peroxide formation and the activities of glutathione (GSH) dependent enzymes in diabetic model mice were investigated. Type I diabetes mellitus was induced by injecting alloxan to ICR mice while type II diabetes mellitus was produced by high calorie diet feeding to genetical...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-0117-0_13
更新日期：1998-01-01 00:00:00
abstract：:Telocyte, different to fibroblast and dendritic cell, is a novel type of interstitial cell, whose key features are their smaller cell body with very long prolongations of uneven caliber, termed telopodes. The telocytes have been continuously discovered to be present in many tissues and organs. Whether telocytes exist ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-1061-3_24
更新日期：2016-01-01 00:00:00
abstract：:What is the function of the Hox genes? At first glance, it is a curious question. Indeed, the answer seems so obvious that several authors have spoken of 'the Hox function' about some of the Hox genes, namely Hox3/zen and Hox6/ftz that seem to have lost it during the evolution of Arthropods. What these authors meant i...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-6673-5_12
更新日期：2010-01-01 00:00:00
