Abstract:
:Single nucleotide polymorphisms (SNPs) can significantly contribute to the cellular level of the mRNA transcripts encoded by human disease related genes. DNA variations between individuals can be an indication of predisposition to disease or affect the response to treatment. An algorithm allowing in silico extraction of SNPs with the high probability of influencing the level of gene expression is highly desirable. We performed a whole-genome analysis of SNP markers in regulatory areas of the human genes. Computational criteria were applied to predict an influence of the nucleotide replacement on the individual gene's expression. We formed a list of 14127 regulatory SNPs corresponding to 8555 regulatory areas suitable for future association studies. A catalogue of 1859 SNP entries, confirmed by analysis in populations, and allocated to 1607 human regulatory areas was created. We also revealed 13 cases of overlapped promoters corresponding to the human genes transcribed from opposite DNA strands and containing the regulatory SNP markers validated in populations. A population-validated set of regulatory SNP markers is organized in a database available in open access as a Supplementary file and by ftp://194.67.85.195/.
journal_name
Mol Cell Probesjournal_title
Molecular and cellular probesauthors
Stepanova M,Tiazhelova T,Skoblov M,Baranova Adoi
10.1016/j.mcp.2006.03.007subject
Has Abstractpub_date
2006-12-01 00:00:00pages
348-58issue
6eissn
0890-8508issn
1096-1194pii
S0890-8508(06)00038-7journal_volume
20pub_type
杂志文章abstract::Gene expression analysis is one of the most common and important studies in biology and biomedicine. No matter for traditional blotting analysis or currently commonly used PCR strategy, all need a stable reference gene for normalizing the gene expression. To screen and select housekeeping genes as the most stable refe...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101610
更新日期:2020-10-01 00:00:00
abstract::The ability to preserve and transport human cells in a stable medium over long distances is critical to collaborative efforts and the advancement of knowledge in the study of human disease. This is particularly important in the study of rare diseases. Recently, advancements in the understanding of renal ciliopathies h...
journal_title:Molecular and cellular probes
pub_type: 杂志文章,评审
doi:10.1016/j.mcp.2021.101694
更新日期:2021-01-08 00:00:00
abstract::The LUX [Light Upon eXtension] is a real-time detection system that can be used for the detection and quantification of pathogens nucleic acids. In this study we used a universal LUX approach, a variation of the LUX detection system, for identifying Orthopoxvirus nucleic acids in real time. This approach enables the d...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.05.003
更新日期:2005-10-01 00:00:00
abstract::Previous studies have demonstrated that insulin-like growth factor-I (IGF-1) and reactive oxygen species (ROS) are involved in the development and progression of various cancers. However, their regulatory mechanism remains unknown. In this study, we treated cancer cells (HeLa, HepG2 and SW1116 cells) and normal cells ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101583
更新日期:2020-08-01 00:00:00
abstract::The human SNAIL is an important developmental protein involved in the formation of mesoderm and neural crest. The protein contains three classic and one atypical zinc-finger motif. The SNAI1 gene is composed of three exons. We have identified three SNPs in non-coding regions, two in the 5'UTR and one in intron 1, whic...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2000.0332
更新日期:2001-02-01 00:00:00
abstract::Some receptor tyrosine kinase genes are mutated in inherited and somatically acquired human cancers. To permit mutational analysis, the complete genomic structure of the human EPHA1 gene on chromosome 7q34 was determined and oligonucleotide pairs were designed to amplify coding regions. The gene contains 18 exons, two...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1999.0228
更新日期:1999-06-01 00:00:00
abstract::The vast majority of first-trimester pregnancy losses are the consequence of numerical aberrations in fetal chromosomes, which may involve nearly all chromosomes. Although commercial probes for all chromosomes are available for multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridizat...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.101422
更新日期:2019-08-01 00:00:00
abstract::Enterovirus 71 (EV71) is one of the main causative agents of hand, foot and mouth disease (HFMD) in young children. Infections caused by EV71 could lead to many complications, ranging from brainstem encephalitis to pulmonary oedema, resulting in high mortality. Thus, rapid detection of the virus is required to enable ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.11.003
更新日期:2006-04-01 00:00:00
abstract::To produce hybrids, one member of the parental line is genetically made male-sterile. This male-sterile trait is encoded by mitochondria so that it is maternally inherited. Consequently, the progeny of a male-sterile plant is fully sterile. Nevertheless, during the handling of cytoplasmic male-sterile seed stocks, som...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(91)90032-f
更新日期:1991-02-01 00:00:00
abstract::Non-pathogenic Burkholderia thailandensis may be used as a model for Burkholderia pseudomallei due to the genetic similarity of these species. Moreover, the experimental manipulation of B. thailandensis is safer. In this study, we constructed recombinant flagellin protein fragments of B. thailandensis E264 (FLAG300, F...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2012.11.001
更新日期:2013-04-01 00:00:00
abstract::A reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay targeting the nucleocapsid phosphoprotein gene of infectious bronchitis virus (IBV) was developed. The detection limits for the IBV RT-LAMP assay were 10(1) 50% egg infection dose (EID(50)) per 50 microl of titrated viruses and no cross-rea...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2009.10.001
更新日期:2010-04-01 00:00:00
abstract::Variable number tandem repeat (VNTR) is a frequently employed typing method of Mycobacterium avium paratuberculosis (MAP) isolates. Based on whole genome sequencing in a previous study, allelic diversity at some VNTR loci seems to over- or under-estimate the actual phylogenetic variance among isolates. Interestingly, ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.02.002
更新日期:2016-06-01 00:00:00
abstract::This report describes detailed taxonomic and phylogenetic analysis of 15 non-tuberculous mycobacteria (NTMs) isolated from human pathological specimens in a Caribbean setting (12 slow-growers and three rapid-growers) that were not identified by cultural and biochemical tests and drug-susceptibility results. These isol...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2004.06.006
更新日期:2004-12-01 00:00:00
abstract::DNA samples of 2303 individuals from nine different population groups were screened for variant -175g-->t in the promoter region of the low-density lipoprotein receptor (LDLR) gene. The -175g-->t variant detected at carrier frequencies of 3-10% in different African population groups was absent in the Caucasian and Asi...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(03)00050-1
更新日期:2003-08-01 00:00:00
abstract::A random amplified polymorphic DNA (RAPD) technique using 16 decamer oligonucleotide primers was employed to characterize isolates of Schistosoma japonicum from seven geographical locations (Sj1: Zhejiang; Sj2: Anhui; Sj3: Jiangxi; Sj4: Hunan; Sj5: Hubei; Sj6: Sichuan; Sj7: Yunnan) of the People's Republic of China. D...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1996.0048
更新日期:1996-10-01 00:00:00
abstract::For the detection of Chlamydia pneumoniae by polymerase chain reaction (PCR) in respiratory samples, an internal control was constructed to monitor the efficiency of amplification in each reaction. The internal control was designed in a way that the same primer pair can be used to amplify the internal control and targ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0180
更新日期:1998-08-01 00:00:00
abstract::The ligase detection reaction (LDR) is a highly specific genotyping method for single nucleotide variations. Although LDR typically discriminates single nucleotide polymorphism (SNP) alleles at the 3' end of so-called LDR discriminating probes, we designed probes in which the position of nucleotide differences for dis...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2010.08.005
更新日期:2010-12-01 00:00:00
abstract::The present report describes a real-time PCR-based procedure to reliably determine the quantity of Leishmania amastigotes in relation to the amount of host tissue in histological skin sections from canine and equine cases of cutaneous leishmaniasis. The novel diagnostic Leishmania-PCR has a detection limit of <0.02 am...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2015.09.008
更新日期:2015-12-01 00:00:00
abstract::We report the occurrence of a common five-nucleotide deletion at codon 1309 of the adenomatous polyposis coli (APC) gene in four different South African population groups. The mutation causes familial adenomatous polyposis (FAP) in 18% (4/22 unrelated patients screened) of affected South Africans, which is similar to ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(95)91007-7
更新日期:1995-02-01 00:00:00
abstract::A simple and rapid method, PCR-restriction enzyme analysis (PCR-RE) for BK virus (BKV) typing was developed, based on the presence of type-specific restriction enzyme sites in a 327 bp PCR-generated fragment which partially encodes the VP1 protein. The enzymes, Alu I, Xmn I and Ava II, were used to digest the PCR prod...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1993.1047
更新日期:1993-08-01 00:00:00
abstract:INTRODUCTION:Treatment in metastatic colorectal cancer (mCRC) has expanded with monoclonal antibodies targeting epidermal growth factor receptor, but is restricted to patients with a wild-type (WT) KRAS mutational status. The most sensitive assays for KRAS mutation detection in formalin-fixed paraffin embedded (FFPE) t...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.06.003
更新日期:2017-10-01 00:00:00
abstract::Using an acute promyelocytic leukemia (APL) preclinical model, we show that oncogene-specific PCR (Polymerase Chain Reaction)-based assays allow to evaluate the efficacy of immunotherapy combining all-trans retinoic acid (ATRA) and a DNA-based vaccine targeting the promyelocytic leukemia-retinoic acid receptor alpha (...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2012.08.001
更新日期:2013-02-01 00:00:00
abstract::Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.10.008
更新日期:2017-04-01 00:00:00
abstract::Multiplex ligation dependent probe amplification (MLPA) assays were designed for the genes HEXB (OMIM: 606873), GM2A (OMIM: 613109) and SMARCAL1 (OMIM: 606622) of humans. Two sets of synthetic MLPA probes for these coding exons were tested. Changes in copy numbers were detected as well as single nucleotide polymorphis...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2012.08.007
更新日期:2013-02-01 00:00:00
abstract::The detection of hepatitis C virus (HCV) RNA by nested polymerase chain reaction (PCR) is believed to be the most reliable method to diagnose HCV infections. A pitfall of nested PCR is that it is prone to contamination. Single step reverse transcription-PCR (RT-PCR) was performed, prospectively, on 80 sera from 59 pat...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1996.0024
更新日期:1996-06-01 00:00:00
abstract::The impact that next-generation sequencing technology (NGS) is having on many aspects of molecular and cell biology, is becoming increasingly apparent. One of the most noticeable outcomes of the new technology in human genetics, has been the accelerated rate of identification of disease-causing genes. Especially for r...
journal_title:Molecular and cellular probes
pub_type: 杂志文章,评审
doi:10.1016/j.mcp.2015.05.015
更新日期:2015-10-01 00:00:00
abstract::An example of the application and contruction of a polymerase chain reaction (PCR) internal control is presented. The internal control is synthesized in one PCR reaction. The primers used in this reaction possess 5' over-hanging ends which are identical to the primers used in the diagnostic reaction, whereas their 3' ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0170
更新日期:1998-10-01 00:00:00
abstract::In a previous study, we reported the performance of a PCR assay amplifying 287-bp of the 16S rRNA gene of thermo-tolerant Campylobacter (C. jejuni, C. lari, C. coli) through an international ring-trial involving 12 participating laboratories. Based on the validated set of primers, a LightCycler real-time PCR assay (LC...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2004.04.005
更新日期:2004-10-01 00:00:00
abstract::Diabetic cardiomyopathy (DCM) is a common complication of diabetes mellitus that can cause many severe symptoms, such as heart failure, arrhythmia, and sudden death. However, the molecular mechanisms underlying cardiac dysfunction in DCM remain elusive. In this study, we found that miR-410-5p was increased in the myoc...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101558
更新日期:2020-08-01 00:00:00
abstract::A real-time assay for DNA methyltransferase (MTase) activity has been developed. A hemimethylated smart probe is used as the substrate for DNA MTase. Cleavage of the methylated product leads to separation of fluorophore from quencher, giving a proportional increase in fluorescence. The method permits real-time monitor...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.03.007
更新日期:2016-06-01 00:00:00