Abstract:
:The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequences of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A---> T). Each has only been found once in this sample of CF patients.
journal_name
Mol Cell Probesjournal_title
Molecular and cellular probesauthors
Férec C,Novelli G,Verlingue C,Quéré I,Dallapiccola B,Audrézet MP,Mercier Bdoi
10.1016/s0890-8508(95)80038-7subject
Has Abstractpub_date
1995-04-01 00:00:00pages
135-7issue
2eissn
0890-8508issn
1096-1194journal_volume
9pub_type
杂志文章abstract::Natalizumab is a humanized monoclonal antibody against the alpha4 chain of the alpha4beta1 and alpha4beta7 integrin heterodimers used with high effectiveness in the treatment of multiple sclerosis. The use of this drug can unfortunately be associated with the onset of progressive multifocal leukoencephalopathy, a poss...
journal_title:Molecular and cellular probes
pub_type: 杂志文章,评审
doi:10.1016/j.mcp.2014.11.007
更新日期:2015-02-01 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::The complete nucleotide sequence of 85A antigen of Mycobacterium gordonae was determined. This gene encodes 339 amino acids, including 43 amino acids for the signal peptide, followed by a mature protein of 296 amino acids. A polymerase chain reaction (PCR) assay for the rapid detection of M. gordonae DNA using two pai...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1997.0110
更新日期:1997-08-01 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::Genetic polymorphism among patients with acute lymphoblastic leukemia (ALL) is an important factor in the effectiveness and toxicity of anti-leukemic drugs. Genotyping of various polymorphisms that impact the outcome of anti-leukemic drug therapy (pharmacogenetics) presents an attractive approach for developing indivi...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2008.02.001
更新日期:2008-06-01 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::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::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::Beak atrophy and dwarfism syndrome (BADS) is commonly caused by co-infection with duck circovirus (DuCV) and novel goose parvovirus (NGPV). Therefore, concurrent detection of both viruses is important for monitoring and limiting BADS, although such a diagnostic test has not been reported. In this study, we developed a...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101648
更新日期:2020-10-01 00:00:00
abstract::We have used the polymerase chain reaction (PCR) to detect shigellae, EIEC and ETEC in stool specimens of diarrhoeic patients returning from tropical countries. As compared to culture (7.1% positive specimens), which recognizes only Shigella strains, PCR performed on bacterial growth from directly inoculated MacConkey...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1994.1040
更新日期:1994-08-01 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::Transcription of human papillomavirus (HPV) type 33 early region was analysed in the UT-DEC-1 keratinocyte cell line, which has been derived from a HPV-33-containing mild vaginal dysplasia. Fifteen cDNA clones from transcripts from the E6-E7 open reading frames were constructed and analysed. Most clones represented vi...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1997.0144
更新日期:1998-02-01 00:00:00
abstract::Citrus plants are natural hosts of five viroid species and a large number of sequence variants. Because of their small size, viroids lend themselves to various RT-PCR approaches for their detection and further characterization. The one-step RT-PCR approach proposed here is based on the synthesis of viroid-cDNA by reve...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.11.001
更新日期:2006-04-01 00:00:00
abstract::The effects of comprehensive LNA substitution in PCR primers for amplification of human genomic DNA targets are presented in this report. Previous research with LNA in other applications has shown interesting properties for molecular hybridization including enhanced specificity in allele-specific PCR. Here we systemat...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(03)00062-8
更新日期:2003-10-01 00:00:00
abstract::Shigella spp are exquisitely fastidious Gram negative organisms that frequently get missed in the detection by traditional culture methods. For this reason, this work has adapted a classical PCR for detection of Shigella in food and stool specimens to real-time PCR using the SYBR Green format. This method follows a me...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2012.09.002
更新日期:2013-02-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2011.04.005
更新日期:2011-08-01 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::A polymerase chain reaction (PCR) protocol was developed that could specifically amplify a 520-bp region of the erythromycin resistant methylase (ermC) gene sequence. The identity of the PCR-amplified 520-bp DNA was confirmed by HinCII endonuclease restriction digestion, which produced the predicted 440-bp and 80-bp D...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1997.0121
更新日期:1997-10-01 00:00:00
abstract::Dengue virus (DENV), a member of the genus Flavivirus within the family Flaviviridae, is one of the most significant mosquito-borne viruses that causing dengue fever in human. A rapid diagnostic would be helpful to detect DENV infection in a timely manner. In the last decade, recombinase polymerase amplification (RPA)...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.06.003
更新日期:2019-08-01 00:00:00
abstract::Technologies that permit rapid investigation of DNA sequences, such as those containing single nucleotide polymorphisms (SNPs), are of great consequence to many sectors that perform molecular diagnostic analyses. We have developed a novel fluorescent oligonucleotide probe technology, termed HyBeacons, which provides a...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2001.0384
更新日期:2001-12-01 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
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2008.09.003
更新日期:2008-10-01 00:00:00
abstract::Several systems for isolating viruses from environmental samples have been tested. The most promising method is based on genomic amplification. The authors attempted to detect adenovirus in nucleic-acid extracts from the Seine River estuary by a two-step amplification of a 220-bp segment of the conserved coding region...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0166
更新日期:1998-06-01 00:00:00
abstract::Actinobacillus pleuropneumoniae is the etiological agent of swine contagious pleuropneumoniae, which is distributed globally and associated with severe economic losses in the pig rearing industry. In this study, a real-time recombinase polymerase amplification assay (real-time RPA) based on the apxIVA gene was develop...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.03.007
更新日期:2019-06-01 00:00:00
abstract::A full-length complementary DNA (cDNA; designated Hc-stp-1) encoding a serine/threonine phosphatase (Hc-STP-1) was isolated from Haemonchus contortus, a strongylid nematode parasite of small ruminants. Hc-stp-1 was shown to be transcribed in males of both adults and fourth-stage larvae, but not in females, early larva...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2010.02.001
更新日期:2010-08-01 00:00:00
abstract::Serum lipid profile which is determined by genotype-phenotype relationship plays a significant role in the development of cardiovascular disease. Upstream stimulatory factor 1 (USF1), has been reported to be associated with serum lipid levels in different population, hence, this study investigated the association of v...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101687
更新日期:2020-12-08 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::Clostridium septicum is a spore-forming anaerobe frequently implicated in cases of gangrenous dermatitis (GD) and other spontaneously occurring myonecrotic infections of poultry. Although C. septicum is readily cultured from diseased tissues it can be difficult to enumerate due to its tendency to swarm over the surfac...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2010.04.001
更新日期:2010-08-01 00:00:00
abstract::Arcobacter is a recently described species, previously considered part of the Campylobacter family. A sensitive assay such as that provided by PCR could help to distinguish the closely related Arcobacter from Campylobacter. A PCR method to specifically detect both Campylobacter jejuni and Arcobacter butzleri in the sa...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2000.0290
更新日期:2000-04-01 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