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 allele sizing is complicated by intrinsic properties of current PCR-based methodologies, in that somatic mosaicism could be suspected. We designed a protocol that allows the exact sizing of intermediate-length alleles, as well as the identification of large expansions.
journal_name
Mol Cell Probesjournal_title
Molecular and cellular probesauthors
Biasiotto G,Archetti S,Di Lorenzo D,Merola F,Paiardi G,Borroni B,Alberici A,Padovani A,Filosto M,Bonvicini C,Caimi L,Zanella Idoi
10.1016/j.mcp.2016.10.008subject
Has Abstractpub_date
2017-04-01 00:00:00pages
60-64eissn
0890-8508issn
1096-1194pii
S0890-8508(16)30090-1journal_volume
32pub_type
杂志文章abstract::The G-->A transition at nucleotide 21881 of the human catechol-O-methyltransferase (COMT) gene represents a functional genetic polymorphism (Val158Met), rendering an enzyme with reduced activity that has been associated with psychiatric disorders and estrogen-related cancers. A new method for the detection of this pol...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2006.12.001
更新日期:2007-06-01 00:00:00
abstract::Several dyes are now known which intercalate into double-stranded DNA with fluorescence enhancement. One such is TOTO (1,1'-(4,4,7,7-tetramethyl-4,7-diazaundecamethylene)-bis-4-[3-meth yl-2,3- dihydro-(benzo-1,3-thiazole)-2-methlyidene]-quinolinium tetraiodide), a homodimer of thiazole orange, whose complexes with DNA...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1994.1035
更新日期:1994-06-01 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::Detection of Ehrlichia chaffeensis is necessary to study interactions between the parasite and its vertebrate and invertebrate hosts. The purpose of this study was to develop a sensitive, specific PCR assay for E. chaffeensis based on the outer membrane protein gene, p28. Candidate primer sets were identified and rank...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2003.10.002
更新日期:2004-04-01 00:00:00
abstract::We have developed a highly specific and sensitive technique for the detection of Pneumocystis carinii DNA using DNA amplification by the polymerase chain reaction (PCR). PCR products are detected by agarose gel electrophoresis and Southern hybridization to an oligonucleotide probe. Here we report the calibration of pa...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(92)90055-3
更新日期:1992-04-01 00:00:00
abstract::A nucleic acid hybridization assay for the detection of the pilin gene of Neisseria gonorrhoeae has been devised. The method involves solution hybridization of pilin specific synthetic oligonucleotide probes to genomic DNA in crude cell lysates. This is followed by capture of the probe-target complex onto a microtitre...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(89)90037-6
更新日期:1989-03-01 00:00:00
abstract::In the present study, multiplex reverse transcription-polymerase chain reaction (mRT-PCR) was developed for simultaneously detection of six major shrimp viruses including yellow-head virus (YHV), white spot syndrome virus (WSSV), Taura syndrome virus (TSV), hepatopancreatic parvovirus (HPV), infectious hypodermal and ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2007.12.005
更新日期:2008-06-01 00:00:00
abstract::In this paper we describe a reverse-transcription nested polymerase chain reaction method for detecting human astrovirus serotype 1. It has been evaluated on 56 UK diarrhoeal stool specimens and six non-UK specimens. The method has greater sensitivity than electron microscopy and may be a useful test in areas such as ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1994.1069
更新日期:1994-12-01 00:00:00
abstract::Biotinylated single-stranded RNA probes from two of the eleven genome segments of the simian rotavirus SA11 were synthesized from cloned DNA and used in dot-blot and Northern-blot hybridization assays. Different types of membranes and conditions to prepare and use synthetic non-radioactive transcript probes were evalu...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(89)90004-2
更新日期:1989-09-01 00:00:00
abstract::Recombinase polymerase amplification assays using real-time fluorescent detection (real-time RPA assay) and lateral flow dipstick (RPA LFD assay) were developed targeting the gD gene of pseudorabies virus (PRV). Both assays were performed at 39 °C within 20 min. The sensitivity of the real-time RPA assay and the RPA L...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.03.005
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Osteoarthritis (OA) is a frequent and incurable joint disease, inducing significant pain and seriously threatening to human health. It has been reported that microRNAs (miRNAs) play crucial roles on cancers and inflammatory diseases via cooperating with genes. However, the effect of miR-374a-3p/Wingless-type...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101541
更新日期:2020-06-01 00:00:00
abstract::The major outer-membrane protein (MOMP) from Campylobacter jejuni NCTC 11168 was purified by solubilization in Triton X-100. Whole-cell proteins of Campylobacter species and the MOMP were subjected to electrophoresis on sodium dodecyl sulfate-polyacrylamide gels, immunoblotting on nitrocellulose paper and enzyme-linke...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(87)90038-7
更新日期:1987-09-01 00:00:00
abstract:PURPOSE:This study aimed to analyze the relationships of long non-coding RNAs (lncRNAs) and protein-coding genes in lung squamous cell carcinoma (LUSC). METHODS:RNA-seq data of LUSC deposited in the TCGA database were used to identify differentially expressed protein-coding genes (DECGs) and differentially expressed l...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.02.009
更新日期:2016-06-01 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::Variation amongst strains of Helicobacter pylori and Helicobacter mustelae was examined by DNA restriction endonuclease digestion and rRNA gene patterns generated using a non-radioactive probe. Chromosomal DNA was extracted from 30 cultures of H. pylori from human, Rhesus monkey and pig gastric mucosa, and from three ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(90)90023-s
更新日期:1990-08-01 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::The pyrazinamidase gene coding for the enzyme that activates the bactericidal drug pyrazinamide contains a polymorphic site that is preserved in Mycobacterium bovis. We synthesized two sets of primers, one encompassing a 180 bp fragment, and the second spanning a 726 bp fragment including the full pncA gene. Following...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2003.11.006
更新日期:2004-06-01 00:00:00
abstract::The INK4a/ARF locus encodes two cell cycle-regulatory proteins, p16(INK4a)and p14(ARF). Inactivation of the p16(INK4a)(MTS1) tumor suppressor gene by mutations, promoter methylation or gene deletions is a common event in the development of many different human tumors. The present report describes a novel polyA mononuc...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2001.0352
更新日期:2001-06-01 00:00:00
abstract::Bacterial kidney disease in salmonid fish is caused by the slow-growing Gram-positive rod, Renibacterium salmoninarum. The partial sequence of 16S rRNA from R. salmoninarum was determined and compared with published bacterial 16S rRNA sequences. From this sequence information, a 30-bases-long oligonucleotide was desig...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1993.1004
更新日期:1993-02-01 00:00:00
abstract::DNA aptamers (PSA-H and MT32) were applied for the detection of Apple stem pitting virus (ASPV) isolates using an Enzyme-Linked Oligonucleotide Assay (ELONA) and Western blot analysis. The specificity and effectiveness of aptamers were verified in comparison to a conventional Enzyme Linked Immunosorbent Assay (ELISA)....
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.10.001
更新日期:2017-12-01 00:00:00
abstract::This study evaluates five cryptic plasmid-derived DNA probes in a 4-h slot-blot hybridization assay for the detection of Chlamydia trachomatis in cultures and clinical specimens. The probes, consisting of either the entire cloned 7.5 kbp cryptic plasmid pSE8 or one of four Hin dIII/Eco RI fragments measuring 710, 1055...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(05)80013-1
更新日期:1991-12-01 00:00:00
abstract::Advanced reflectance-based optical techniques for in vivo imaging often suffer from low contrast between neoplastic and normal tissue and are unable to image early biomolecular changes associated with carcinogenesis, thus limiting their clinical value. In this study, we exploit the resonance light scattering property ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2007.06.010
更新日期:2008-02-01 00:00:00
abstract::Routine diagnosis of acute flaccid paralysis (AFP) is still based on classical virological procedures. Several enteroviruses serotypes are not easily isolated in cell cultures system used and routinely more than one passage in cell culture is performed. A total of 54 archived faecal samples were examined. The heteroge...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2007.12.001
更新日期:2008-06-01 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::The development of a sensitive, non-isotopic filter hybridization method based on the peroxidase catalyzed luminol reaction is described. High sensitivity was achieved by optimizing the conditions of the hybridization procedure, the immunochemical detection and the peroxidase/luminol reaction. This resulted in the rep...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(92)90020-x
更新日期:1992-06-01 00:00:00
abstract::A multiplex PCR for the simultaneous detection of some pathogenic genes of enteropathogenic, enterotoxigenic and verocytotoxin-producing Escherichia coli was developed. In this study primers found in literature as well as primers to the purpose designed were used. In this way, it was possible to generate specific frag...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2004.03.001
更新日期:2004-08-01 00:00:00
abstract::Accurate and timely diagnosis of acute bacterial meningitis is critical for antimicrobial treatment of patients. Although PCR-based methods have been widely used for the diagnosis of acute meningitis caused by bacterial pathogens, the main disadvantage of these methods is their high cost. This disadvantage has hampere...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.07.002
更新日期:2016-08-01 00:00:00
abstract::The aim of this study was to determine the presence of haematogenous neoplastic cells in patients with prostate cancer. Circulating prostate cells can be detected in cancer patients by using a nested-reverse transcriptase-polymerase chain reaction assay (RT-PCR), for prostate-specific membrane (PSM) antigen mRNA. This...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0201
更新日期:1998-12-01 00:00:00
abstract::An assay for rapid detection of herpes simplex virus in infected cells is described. The assay utilizes in situ hybridization with photobiotin-labelled double-stranded DNA probes prepared from HSV-1 DNA cloned in plasmid vectors. The assay provided an alternative method for earlier detection of virus in cell cultures ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(89)90015-7
更新日期:1989-12-01 00:00:00
abstract::A rapid polymerase chain reaction (PCR) assay specific for Marek's Disease Virus (MDV) was developed. This assay was able to detect MDV in inoculated chick kidney cells at dilutions of 10(-5). Negative PCR results were obtained using uninoculated chick cells, Marek's Disease Vaccine (SB), Herpesvirus of Turkeys (HVT) ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1993.1017
更新日期:1993-04-01 00:00:00