Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.


: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.


Mol Cell Probes


Férec C,Novelli G,Verlingue C,Quéré I,Dallapiccola B,Audrézet MP,Mercier B




Has Abstract


1995-04-01 00:00:00












  • Use of RAPD for the detection of genetic variation in the human blood fluke, Schistosoma japonicum, from mainland China.

    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


    authors: Gasser RB,Bao-Zhen Q,Nansen P,Johansen MV,Bøgh H

    更新日期:1996-10-01 00:00:00

  • A LightCycler real-time PCR hybridization probe assay for detecting food-borne thermophilic Campylobacter.

    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


    authors: Perelle S,Josefsen M,Hoorfar J,Dilasser F,Grout J,Fach P

    更新日期:2004-10-01 00:00:00

  • Simultaneous detection of two cystic fibrosis alleles using dual-label time-resolved fluorometry.

    abstract::A simple dual-label hybridization test for normal and mutant cystic fibrosis (CF) alleles is described. The assay is based on time-resolved fluorometry (TRF), which allows the simultaneous detection of DNA probes labelled with different lanthanides from one hybridization reaction. DNA was liberated from dried blood di...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Iitiä A,Liukkonen L,Siitari H

    更新日期:1992-12-01 00:00:00

  • Specific PCR primers for Cryptosporidium parvum with extra high sensitivity.

    abstract::One pair of high-sensitive polymerase chain reaction (PCR) primers for Cryptosporidium parvum was constructed based on the sequence of random amplified polymorphic DNA. PCR with this primer pair amplified only the DNA of C. parvum, not the control DNA including Cryptosporidium muris. This primer pair had most advantag...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Wu Z,Nagano I,Matsuo A,Uga S,Kimata I,Iseki M,Takahashi Y

    更新日期:2000-02-01 00:00:00

  • DNA probe and polymerase chain reaction procedure for the specific detection of Serpulina hyodysenteriae.

    abstract::Serpulina (Treponema) hyodysenteriae, a Gram-negative anaerobic spirochete, is the causative agent of swine dysentery, a mucohaemorrhagic diarrheal disease in which lesions are confined to the large intestine of pigs. A DNA probe and polymerase chain reaction (PCR) amplification procedures which are specific, rapid , ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Harel J,Forget C

    更新日期:1995-04-01 00:00:00

  • Alternate PCR assays for screening of JH1 mutation associated with embryonic death in Jersey cattle.

    abstract::Jersey haplotype (JH) 1, a stop-gain lethal mutation in the CWC15 gene, causes embryonic losses in Jersey cattle. Two PCR based assays using Amplification Refractory Mutation System (T-ARMS-PCR) and restriction fragment length polymorphism (PCR-RFLP) were developed for screening of the JH1 in cattle. During the screen...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Kumar A,Gupta ID,Mohan G,M R V,D RK,S J,Kataria RS,Niranjan SK

    更新日期:2020-12-03 00:00:00

  • Aptamers, the bivalent agents as probes and therapies for coronavirus infections: A systematic review.

    abstract::The recently known coronavirus, SARS-CoV-2, has turn into the greatest global health challenge, affecting a large number of societies. The lack of specific treatment and gold-standard diagnostic system has made the situation more complicated. Efforts have led to production of several diagnostic kits that are associate...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章,meta分析


    authors: Torabi R,Ranjbar R,Halaji M,Heiat M

    更新日期:2020-10-01 00:00:00

  • Label-free monitoring of DNA methyltransferase activity based on terminal deoxynucleotidyl transferase using a thioflavin T probe.

    abstract::We have developed a new methodology for fluorescence turn-on detection of DNA methyltransferase (MTase) activity based on terminal deoxynucleotidyl transferase (TdT) using a thioflavin T probe. This method is highly selective and sensitive. The fluorescence intensity was direct proportion to Dam MTase concentration in...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Ma C,Liu H,Li W,Chen H,Jin S,Wang J,Wang J

    更新日期:2016-04-01 00:00:00

  • Development of a rapid recombinase polymerase amplification assay for detection of Brucella in blood samples.

    abstract::A rapid and sensitive recombinase polymerase amplification (RPA) assay, Bruce-RPA, was developed for detection of Brucella. The assay could detect as few as 3 copies of Brucella per reaction within 20 min. Bruce-RPA represents a candidate point-of-care diagnosis assay for human brucellosis. ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Ren H,Yang M,Zhang G,Liu S,Wang X,Ke Y,Du X,Wang Z,Huang L,Liu C,Chen Z

    更新日期:2016-04-01 00:00:00

  • A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse.

    abstract::The ability to rapidly and reliably genotype mice is an important concern. Traditional methods employ labour intensive and time consuming techniques such as test crossing, gel electrophoresis or nucleic acid hybridization. Here we show that a new molecular biology workstation, the WAVE DNA Fragment Analysis System, ca...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Kuklin A,Davis AP,Hecker KH,Gjerde DT,Taylor PD

    更新日期:1999-06-01 00:00:00

  • Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion.

    abstract::Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (SMN1) gene. Approximately 94% of SMA patients carry homologous deletions of SMN1 exon(...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Baris I,Etlik O,Koksal V,Arican-Baris ST

    更新日期:2010-06-01 00:00:00

  • Detection and molecular typing of Campylobacter jejuni in fecal samples by polymerase chain reaction.

    abstract::In order to determine whether polymerase chain reaction (PCR) could be used to detect Campylobacter jejuni directly in stool samples, DNA from 66 frozen culture positive and negative fecal samples was purified by column chromatography. The flaA gene was amplified using primers directed against the conserved 5' and 3' ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Waegel A,Nachamkin I

    更新日期:1996-04-01 00:00:00

  • Development of a novel and rapid polymerase spiral reaction (PSR) assay to detect Salmonella in pork and pork products.

    abstract::The polymerase spiral reaction (PSR), a novel isothermal method for targeted DNA amplification, was effectively applied to detect Salmonella in artificially spiked pork. The specificity of the developed PSR was tested using 16 Salmonella and 15 non-Salmonella strains. The PSR assay was 10-fold more sensitive than conv...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Momin KM,Milton AAP,Ghatak S,Thomas SC,Priya GB,Das S,Shakuntala I,Sanjukta R,Puro KU,Sen A

    更新日期:2020-04-01 00:00:00

  • Human papillomavirus type 33 DNA and E6-E7 transcripts in late passages of the UT-DEC-1 vaginal keratinocyte cell line.

    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


    authors: Auvinen E,Hietanen S,Gissmann L,Alonso A

    更新日期:1998-02-01 00:00:00

  • Development and validation of a multiplex real-time PCR for detection of Clostridium chauvoei and Clostridium septicum.

    abstract::Clostridium chauvoei is the causative agent of blackleg in cattle and sheep. The clinical symptoms of this severe disease are very similar to that of malignant edema (Clostridium septicum), infections of other Clostridium species belonging to the gas edema complex, and anthrax (Bacillus anthracis). C. chauvoei and C. ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Lange M,Neubauer H,Seyboldt C

    更新日期:2010-08-01 00:00:00

  • Detection and discrimination of B pertussis and B holmesii by real-time PCR targeting IS481 using a beacon probe and probe-target melting analysis.

    abstract::A beacon probe was designed to detect one of the two documented single nucleotide changes in IS481 target allele of Bordetella holmesii genome as compared to Bordetella pertussis. PCR amplified product targeting a region of IS481 in presence of the probe was subjected to a post-PCR hybridization and melting cycle. Hyb...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Poddar SK

    更新日期:2003-04-01 00:00:00

  • High-throughput qualitative multiplex 5' nuclease assay using post-only PCR analysis.

    abstract::Homogenous fluorescence PCR assays offer distinct advantages for qualitative testing and are gaining immense popularity in fields like diagnostic microbiology. To meet the demand of high-volume laboratories, we developed a protocol for qualitative multiplex 5' nuclease assays using post-only PCR analysis. This novel a...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Antonishyn NA,McDonald RR,Chan EL,Horsman GB

    更新日期:2005-10-01 00:00:00

  • Identification of crucial regulatory relationships between long non-coding RNAs and protein-coding genes in lung squamous cell carcinoma.

    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


    authors: Wu X,Ruan L,Yang Y,Mei Q

    更新日期:2016-06-01 00:00:00

  • A simple method for diagnosing M. tuberculosis infection in clinical samples using PCR.

    abstract::Species identification of Mycobacterium tuberculosis remains a cumbersome process. We have developed a simple method for treating clinical samples which permits direct polymerase chain reaction (PCR) amplification of mycobacterial target DNA without organic extraction. Samples were boiled for 30 min in TE-Triton, then...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Sritharan V,Barker RH Jr

    更新日期:1991-10-01 00:00:00

  • Quantification of the detection of Pneumocystis carinii by DNA amplification.

    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


    authors: Peters SE,Wakefield AE,Banerji S,Hopkin JM

    更新日期:1992-04-01 00:00:00

  • Up-regulated miR-374a-3p relieves lipopolysaccharides induced injury in CHON-001 cells via regulating Wingless-type MMTV integration site family member 5B.

    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


    authors: Shi FL,Ren LX

    更新日期:2020-06-01 00:00:00

  • Development of a TB green II-based duplex real-time fluorescence quantitative PCR assay for the simultaneous detection of porcine circovirus 2 and 3.

    abstract::Porcine circovirus 3 (PCV3), as a newly emerged circovirus, is widely distributed in pig populations worldwide. Co-infection of PCV2 and PCV3 has been reported frequently in clinical samples. In the present study, a TB Green II-based duplex real-time polymerase chain reaction (qPCR) was developed to rapidly and differ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Zhao Y,Han HY,Fan L,Tian RB,Cui JT,Li JY,Chen HY,Yang MF,Zheng LL

    更新日期:2019-06-01 00:00:00

  • Duplex Real-time PCR assay and SYBR green I melting curve analysis for molecular identification of HPV genotypes 16, 18, 31, 35, 51 and 66.

    abstract::Long-term infection with high-risk HPV genotypes is the leading cause of cervical cancer. In the present study a Duplex Real-time PCR assay was developed in order to identify HPV types 16, 18, 31, 35, 51 and 66 in three reactions, through SYBR green I melting curve analysis. The method utilizes type-specific primer se...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Tsakogiannis D,Papacharalampous M,Toska E,Kyriakopoulou Z,Dimitriou TG,Ruether IG,Komiotis D,Markoulatos P

    更新日期:2015-02-01 00:00:00

  • A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome.

    abstract::The quantitative evaluation of mosaicism for uniparental disomy (UPD) involving a restricted chromosomal region requires the availability of a sensitive and reproducible method that is capable of detecting even a small percentage of disomic cells and avoiding false positive and false negative results. The occurrence o...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Russo S,Mencarelli M,Cavalleri F,Selicorni A,Cogliati F,Larizza L

    更新日期:2003-12-01 00:00:00

  • On-line moisture determination of ore concentrates 'a review of traditional methods and introduction of a novel solution'.

    abstract::The manual gravimetric drying moisture determination methods currently employed by most mineral processing plants fail to provide timely and accurate information required for automatic control. The costs associated with transporting and handling concentrates still represent a major portion of the overall treatment pri...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章,评审


    authors: Cancilla PA,Barrette P,Rosenblum F

    更新日期:2002-12-01 00:00:00

  • Polymorphisms in the Human SNAIL (SNAI1) gene.

    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


    authors: Okajima K,Paznekas WA,Burstyn T,Jabs EW

    更新日期:2001-02-01 00:00:00

  • Class D and E tetracycline resistance determinants in gram-negative bacteria from catfish ponds.

    abstract::DNA probes were used to examine tetracycline-resistant Gram-negative bacteria (281 strains representing eight species) from catfish ponds. The isolates, which did not previously hybridize with the Tet A, B and C determinants, were examined for the presence of tetracycline-resistance Tet D and Tet E determinants. The d...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: DePaola A,Roberts MC

    更新日期:1995-10-01 00:00:00

  • Specific detection of common pathogens of acute bacterial meningitis using an internally controlled tetraplex-PCR assay.

    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


    authors: Farahani H,Ghaznavi-Rad E,Mondanizadeh M,MirabSamiee S,Khansarinejad B

    更新日期:2016-08-01 00:00:00

  • Detection of human cytomegalovirus in cervicovaginal cells by culture, in situ DNA hybridization and DNA amplification methods.

    abstract::The presence of human cytomegalovirus (HCMV) was tested in 388 cervicovaginal cells specimens obtained from the same number of pregnant women. HCMV was detected in 5.41%, 11.6% and 13.9% of these specimens by conventional culture, in situ DNA hybridization and polymerase chain reaction (PCR) methods, respectively. The...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Yuan CF,Kao SM,Wang DC,Ng HT,Pao CC

    更新日期:1990-12-01 00:00:00

  • Real-time PCR using SYBR Green for the detection of Shigella spp. in food and stool samples.

    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


    authors: Mokhtari W,Nsaibia S,Gharbi A,Aouni M

    更新日期:2013-02-01 00:00:00