Abstract:
:Inherited and acquired changes in pre-mRNA splicing have been documented to play a significant role in human disease development and many cancer-associated genes are regulated by alternative splicing. Loss of fidelity, variation of the splicing process, even controlled switching to specific splicing alternatives may occur during tumor progression and could play a major role in carcinogenesis. Splice variants that are found predominantly in tumors have clear diagnostic value and may provide potential drug targets. Moreover, understanding the process of aberrant splicing and the detailed characterization of the splice variants may prove crucial to our understanding of malignant transformation. This review discusses the basic mechanism of alternative splicing, alternative splicing in cancer-associated genes, tools to identify splice variants, and the development of clinical tests based on alternatively spliced biomarkers.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Brinkman BMdoi
10.1016/j.clinbiochem.2004.05.015subject
Has Abstractpub_date
2004-07-01 00:00:00pages
584-94issue
7eissn
0009-9120issn
1873-2933pii
S0009912004001377journal_volume
37pub_type
杂志文章,评审abstract:OBJECTIVE:We evaluated the erythrocyte lipid susceptibility to oxidation and erythrocyte antioxidant status in patients with myocardial infarction (MI). DESIGN AND METHODS:Patients with MI were divided into two group according to the severity of the disease as severe (n = 30) or milder (n = 25). Malondialdehyde as a m...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(98)00070-8
更新日期:1998-11-01 00:00:00
abstract::1. A procedure for the assay of triglycerides on the ABA-50 is described. 2. The Boehringer Mannheim Triglyceride (Fully Enzymatic method) reagent kit has been evaluated with this method and was found to be satisfactory. ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(77)93190-3
更新日期:1977-12-01 00:00:00
abstract::57Co-cyanocobalamin is substituted for iodine labeled antigen in three commercially available solid phase radioimmunoassay kits to evaluate the extent of non-specific binding by determination of the supernatant and residual fraction of unbound ligand and thus obtain a value for corrected binding throughout the range o...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(78)90070-x
更新日期:1978-06-01 00:00:00
abstract:OBJECTIVES:Biallelic mutations in the ARG1 gene result in an uncommon autosomal recessive inborn defect of the urea cycle known as hyperargininemia (OMIM #207800). ARG1 splicing mutations are not reported often, and they are probably related to a more severe phenotype than missense mutations. In this article, we descri...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.07.015
更新日期:2015-12-01 00:00:00
abstract::Senescence is a process which, until quite recently, has been the subject of little scientific investigation. Even the word "senescence" is difficult to define, and complex methodological pitfalls have impeded progress. In the past few years, there have been exciting advances in understanding the physiological, cell b...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/0009-9120(92)80047-k
更新日期:1992-04-01 00:00:00
abstract:BACKGROUND:Oxidative stress is evident from an early stage in chronic kidney disease (CKD). Therefore, we investigated redox biomarkers in polycystic kidney disease (ADPKD) and IgA nephropathy (IGAN). METHODS:This is a case-control study with three groups: ADPKD (n = 54), IGAN (n = 58) and healthy controls (n = 86). T...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2018.04.010
更新日期:2018-06-01 00:00:00
abstract::Several clinical entities are associated with disorders of fatty acid oxidation or transfer across the inner mitochondrial membrane. Over 40 cases of the primary carnitine deficiency syndrome have been reported to date and various subtypes have been characterized. This represents a large clinical spectrum. The deficie...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/s0009-9120(87)80090-5
更新日期:1987-02-01 00:00:00
abstract:OBJECTIVES:Measurement of serotonin concentrations in blood is considered to be important for the clinical studies of diseases involving vascular endothelial injury. We have developed a high-performance liquid chromatographic (HPLC) method for measurement of serotonin level in platelet-poor plasma (PPP). METHODS:Venou...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2003.11.009
更新日期:2004-03-01 00:00:00
abstract::Monitoring blood levels of Cyclosporine (CsA) has been the basis for adjusting individual dosage regimens in the clinic. Radioimmunoassays using polyclonal antisera reacted with CsA and some CsA metabolites, leading to overestimation when compared with high-performance liquid chromatographic measurements of CsA. Monoc...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/0009-9120(91)90147-7
更新日期:1991-02-01 00:00:00
abstract::Liquid chromatography (LC) coupled to mass spectrometry (MS) or tandem mass spectrometry (MS/MS) has become increasingly important in clinical and forensic toxicology as well as doping control and is now a robust and reliable technique for routine analysis in these fields. In recent years, methods for LC-MS(/MS)-based...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2010.08.008
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVES:Multiplexing technologies based on the use of microspheres as the solid phase have opened new possibilities for the analysis of autoantibodies. As an alternative to the traditional immunoassays, it is possible to use these methods in combination with flow cytometry for simultaneous measurement of anti-thyroi...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.08.004
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVES:Oxidative stress is considered to be a unifying link between diabetes mellitus (DM) and its complications including nephropathy. The aim of the present study was to evaluate oxidative stress status in Asian Indian patients of type 2 DM with nephropathy. DESIGN AND METHODS:Serum levels of malondialdehyde (MD...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(03)00094-8
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVES:To evaluate platelet activating factor (PAF) levels, its metabolic enzymes activity and its associations with other inflammatory markers in heart failure (HF) patients. DESIGN AND METHODS:PAF, and two of its key biosynthetic enzymes [lyso-PAF acetyltransferase (lyso-PAF-AT) and DTT-insensitive CDP-choline:1...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.09.113
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To quantify pepsinogen C (PEPC) and prostaglandin D synthase (PGDS) in breast cyst fluid and examine if these two parameters can be used for breast cyst type classification. DESIGN AND METHODS:We quantified PEPC and PGDS in 92 and 50 breast cyst fluids, respectively, using previously established immunofluoro...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(98)00079-4
更新日期:1999-02-01 00:00:00
abstract::Fibroblast growth factor 23 (FGF-23), a key hormone for the regulation of the phosphorus homeostasis, has also several direct effects on cardiac function. In heart failure (HF), the increase of FGF-23 participates to cardiac hypertrophy and remodeling. Measurement of the intact, biologically active hormone is now avai...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2018.09.003
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVES:Rasburicase (Fasturtec) is used to prevent or treat hyperuricemia associated with chemotherapy. We developed a capillary zone electrophoresis method to measure urinary allantoin, the degradation product of uric acid by rasburicase. DESIGN AND METHODS:Electrophoresis was performed using a P/ACE 5500 system (...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.09.013
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVES:To ascertain the effects of eating on plasma antioxidant capacity in patients with liver disease. DESIGN AND METHODS:Eighteen cirrhotic patients were compared to 18 age and sex-matched controls. TRAP was measured by a fluorometric assay after a 12 h fast, and 60, 120, and 180 min after the study participant...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(99)00039-9
更新日期:1999-08-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to evaluate the concentration of interleukin 12 (IL-12), the activity of phospholipase A(2) (PLA(2)), and platelet-activating factor acetylhydrolase (PAF-AH) in type 1 diabetes (DM1) patients treated with intensive insulin therapy. DESIGN AND METHODS:Studied parameters were measured...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.07.023
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVES:We have previously identified three minor immunophilins of molecular weights 37 kDa, 14 kDa, and 5-8 kDa capable of binding tacrolimus and sirolimus. DESIGN AND METHODS:When tested against pure preparations of five sirolimus metabolites, the 14 kDa protein had almost no cross-reactivity, the 37 kDa protein ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(99)00080-6
更新日期:2000-02-01 00:00:00
abstract:OBJECTIVES:To investigate the polymorphism distribution of Val-9Ala and Ile+58Thr of the Mn-superoxide dismutase (Mn-SOD) gene among subjects with Parkinson's disease (PD) by analyses of genders and clinical severity. DESIGN AND METHODS:We examined the DNA genotypes of Val-9Ala and Ile+58Thr from 295 PD subjects and 1...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2010.05.009
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVES:Lipoprotein(a) [Lp(a)] can be oxidized by copper in vitro in a way comparable to low-density lipoprotein (LDL). We sought to determine whether the susceptibility of Lp(a) to oxidation is correlated with the susceptibility of autologous heterogeneous LDL, with apolipoprotein(a) [apo(a)] molecular size, or wit...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00438-1
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:The aim of this study was to investigate whether BGD activity is of additional value in the assessment of pulmonary inflammation caused by coal dust exposure. DESIGN AND METHODS:Ex-coalminers were included in this study. Forty-eight healthy male subjects, without a relevant medical history, were used as con...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(99)00070-3
更新日期:1999-11-01 00:00:00
abstract:OBJECTIVES:The ratio of glycated albumin to HbA1c (GA/HbA1c ratio) is a known indicator that reflects fluctuations in plasma glucose. In this study, the association of the GA/HbA1c ratio to diabetic nephropathy and diabetic retinopathy in patients with type 2 diabetes was investigated. DESIGN AND METHODS:Among patient...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.11.032
更新日期:2017-04-01 00:00:00
abstract::Retrospective analysis of DNA from paraffin-embedded fixed bone marrow biopsy specimens is possible if preceded by amplification of the DNA sequences of interest by the polymerase chain reaction (PCR). These fixed specimens yield degraded DNA that may not be suitable for direct analysis by conventional digestion and h...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(92)80051-h
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVES:Despite the well-defined genetics of FMF, limited information is available regarding the regulation of inflammation by cytokines. DESIGN AND METHODS:The levels of systemic cytokines and other markers of inflammation in FMF patients and control were measured by ELISA and Cytometric Bead Array (CBA). RESULTS...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.03.017
更新日期:2008-07-01 00:00:00
abstract::Human liver arginase has many biological effects on lymphocytes, macrophages, liver cells, and tumor cells, in addition to its major role in the liver urea cycle. We have developed a sandwich enzyme-linked immunosorbent assay (ELISA) method to quantitate arginase concentrations in plasma that can be applied to various...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(93)80009-j
更新日期:1993-12-01 00:00:00
abstract:OBJECTIVE:Salivary cortisol in the assessment of glucocorticoid related disorders. DESIGN-METHODS: Serum and salivary cortisol were measured in 189 patients (22 Cushing's syndrome, 67 pseudo-Cushing, 11 Addison's disease, 89 controls) at 8:00 and 24:00 h. RESULTS:Serum and salivary cortisol correlated in the whole stu...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.01.015
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND:Colorectal cancer (CRC) is one of the most common cancers worldwide, and emerging lines of evidence have implicated circular RNAs (circRNAs), a novel class of endogenous noncoding RNAs, in CRC development. However, whether plasma circRNAs might be novel diagnostic biomarkers for CRC remains unclear. METHODS...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2019.10.012
更新日期:2019-12-01 00:00:00
abstract::Although a multitude of hepatitis B markers are available to discriminate different states of hepatitis B virus (HBV) infection, there remains a need to detect the HBV DNA itself. The HBV DNA test is the only test that can quantify the number of complete virions. As shown in this review, the diagnostic value of testin...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(93)90127-r
更新日期:1993-08-01 00:00:00
abstract::The biosynthesis of prostate specific antigen (PSA) was studied in human epidermoid carcinoma, (KB) cells and in normal human embryonic lung (WI-38)cells. The prostate carcinoma cell line, PC-35F12 was used as a control. PSA specific antibodies were used to precipitate the immunologically reactive peptides from cell e...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(01)00280-6
更新日期:2001-11-01 00:00:00