Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene.


:The progressive myoclonus epilepsy of Lafora type (LD) is an autosomal recessive disorder caused by mutations in the EPM2A gene. We demonstrated recently that EPM2A encodes a dual-specificity phosphatase that is primarily associated with polyribosomes. In the present study, we screened for mutations in the EPM2A gene in 4 Japanese LD families and identified a novel mis-sense mutation, Ala46Pro (136G-->C), in heterozygous condition in one patient. In addition, sequence analyses in the patient and control DNA samples identified 4 single nucleotide polymorphisms (SNPs) (75G/A, 120G/T, 159C/G, 171C/T) in the coding region and a novel insertion/deletion polymorphic site (-483[T](11/10)[A](2/3)) and a SNP (-547A/G) in the putative regulatory region of the EPM2A gene. None of the sequence variants, however, co-segregated with the LD phenotype. Haplotype analysis for the 6q24 region in the affected families revealed lack of homozygosity at the EPM2A locus. Our studies suggest that EPM2A is not involved in the disease phenotype of the 4 families studied and that locus heterogeneity for LD may exist in Japanese population also. A simple test described for the detection of Ala46Pro mutation present heterozygously in Japanese population (allele frequency 0.026) can be used for screening this novel allele in a larger sample size.


Mol Cell Probes


Ganesh S,Shoda K,Amano K,Uchiyama A,Kumada S,Moriyama N,Hirose S,Yamakawa K




Has Abstract


2001-10-01 00:00:00














  • MiR-34a suppresses the proliferation and invasion of gastric cancer by modulating PDL1 in the immune microenvironment.

    abstract:OBJECTIVES:As one of the most serious malignant carcinomas that threaten the life of sufferers constantly, gastric cancer has attracted a lot of interest among researchers. miR-34a, a member of hundreds of microRNAs (miRNAs), has been elucidated to exert a suppressive role in gastric cancer tumorgenesis based on previo...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Yong H,Fu J,Gao G,Shi H,Zheng D,Zhou X

    更新日期:2020-10-01 00:00:00

  • Serogroup specific single and multiplex PCR with pre-enrichment culture and immuno-magnetic bead capture for identifying strains of D. nodosus in sheep with footrot prior to vaccination.

    abstract::The identification of Dichelobacter nodosus present in a flock is a prerequisite to specific (autogenous) vaccination. Current methods of identification of the serogroup present in a population requires that the organisms be isolated, identified visually in mixed culture on streak plates, subcultured to purify and sub...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Dhungyel OP,Whittington RJ,Egerton JR

    更新日期:2002-08-01 00:00:00

  • Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA.

    abstract::We describe a rapid, automated method for direct detection of known single-base changes in genomic DNA. Fluorescence-based DNA minisequence analysis is employed in a template-dependent reaction which involves a single nucleotide extension of an oligonucleotide primer by the correct fluorescently-tagged dideoxynucleoti...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Kobayashi M,Rappaport E,Blasband A,Semeraro A,Sartore M,Surrey S,Fortina P

    更新日期:1995-06-01 00:00:00

  • Tracking the extramedullary PML-RARα-positive cell reservoirs in a preclinical model: biomarker of long-term drug efficacy.

    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


    authors: Pokorna K,Le Pogam C,Chopin M,Balitrand N,Reboul M,Cassinat B,Chomienne C,Padua RA,Pla M

    更新日期:2013-02-01 00:00:00

  • Amplification of three hypervariable DNA regions by polymerase chain reaction for paternity determinations: comparison with conventional methods and DNA fingerprinting.

    abstract::The present study evaluates the usefulness of a PCR-based method for routine paternity testing in 35 paternity cases. This identification method which is based on amplification of three hypervariable genetic loci, apoB, D1S80 and HLA-DQ alpha, is compared, with regard to reliability and technical feasibility, to the c...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Helminen P,Sajantila A,Johnsson V,Lukka M,Ehnholm C,Peltonen L

    更新日期:1992-02-01 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

  • Down-regulation of UBA6 exacerbates brain injury by inhibiting the activation of Notch signaling pathway to promote cerebral cell apoptosis in rat acute cerebral infarction model.

    abstract::This study aimed to examine the UBA6 role in brain injury mediated by acute cerebral infarction (ACI). In order to screen potential therapeutic targets for ACI, two expression profiles, including GSE97537 and GSE97533 datasets, were downloaded from the GEO database. The Venn method to identify the common DEGs. 68 up-r...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Chen Z,Liu J,Chen Q,Su M,Lu H,Yang Y,Zhou G,Zhang X,Liu Y,Dong W,Fang Q

    更新日期:2020-10-01 00:00:00

  • Specific detection of enterovirus 71 directly from clinical specimens using real-time RT-PCR hybridization probe assay.

    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


    authors: Tan EL,Chow VT,Kumarasinghe G,Lin RT,Mackay IM,Sloots TP,Poh CL

    更新日期:2006-04-01 00:00:00

  • Transcriptional profiles of regulatory and virulence factors of Staphylococcus aureus of bovine origin: oxygen impact and strain-to-strain variations.

    abstract::Staphylococcus aureus is responsible for a large panel of infections in humans and animals. In cows, S. aureus provokes chronic intramammary infections. Little information is available about the regulation of virulence factors in bovine isolates. Moreover, oxygenation, which is low in an inflamed mammary gland, could ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Ster C,Gilbert FB,Cochard T,Poutrel B

    更新日期:2005-08-01 00:00:00

  • A novel peptide-based recognition probe for the sensitive detection of CD44 on breast cancer stem cells.

    abstract::Metastasis and recurrence of breast cancer remain significant clinical problems. The expression level of CD44 protein is higher in breast cancer-initiating cancer stem cells; therefore, the early detection of CD44 using a sensitive diagnostic probe is important for breast cancer diagnosis and therapeutic purposes. In ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Cho JH,Lee SC,Ha NR,Lee SJ,Yoon MY

    更新日期:2015-12-01 00:00:00

  • Detection of catechol-O-methyltransferase Val158Met polymorphism by a simple one-step tetra-primer amplification refractory mutation system-PCR.

    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


    authors: Ruiz-Sanz JI,Aurrekoetxea I,Ruiz del Agua A,Ruiz-Larrea MB

    更新日期:2007-06-01 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

  • 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

  • Detection of adenovirus in the waters of the Seine River estuary by nested-PCR.

    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


    authors: Castignolles N,Petit F,Mendel I,Simon L,Cattolico L,Buffet-Janvresse C

    更新日期:1998-06-01 00:00:00

  • Comparison and evaluation of conventional RT-PCR, SYBR green I and TaqMan real-time RT-PCR assays for the detection of porcine epidemic diarrhea virus.

    abstract::Porcine epidemic diarrhea (PED) caused by porcine epidemic diarrhea virus (PEDV) is a highly contagious intestinal disease, resulting in substantial economic losses to the swine industry worldwide. In this study, three assays, namely a conventional reverse transcription-polymerase chain reaction (RT-PCR), a SYBR Green...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Zhou X,Zhang T,Song D,Huang T,Peng Q,Chen Y,Li A,Zhang F,Wu Q,Ye Y,Tang Y

    更新日期:2017-06-01 00:00:00

  • A species-specific DNA probe for Providencia stuartii identification.

    abstract::A DNA probe is described that can be used for identification of Providencia stuartii by means of filter hybridization assays. The probe, which is a fragment of the P. stuartii phoN gene coding for an acid phosphatase, appeared to be able to recognize only P. stuartii strains in slot-blot hybridization experiments perf...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Thaller MC,Berlutti F,Riccio ML,Rossolini GM

    更新日期:1992-10-01 00:00:00

  • Multiplex RT-PCR assay for simultaneous detection of six viruses of penaeid shrimp.

    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


    authors: Khawsak P,Deesukon W,Chaivisuthangkura P,Sukhumsirichart W

    更新日期:2008-06-01 00:00:00

  • Rapid and cost effective genotyping method for polymorphisms in PPARG, PPARGC1 and TCF7L2 genes.

    abstract::Polymorphisms (rs1801282, rs8192678, rs7903146) of peroxisome proliferator-activated receptor gamma (PPARG), peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PPARGC1A) and transcription factor 7-like 2 (TCF7L2) have recently been associated with different diseases, mainly type 2 diabetes. An assay...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Habalová V,Klimcáková L,Zidzik J,Tkác I

    更新日期:2009-02-01 00:00:00

  • Rapid differentiation of citrus Hop stunt viroid variants by real-time RT-PCR and high resolution melting analysis.

    abstract::The RNA genome of pathogenic and non-pathogenic variants of citrus Hop stunt viroid (HSVd) differ by five to six nucleotides located within the variable (V) domain referred to as the "cachexia expression motif". Sensitive hosts such as mandarin and its hybrids are seriously affected by cachexia disease. Current method...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Loconsole G,Onelge N,Yokomi RK,Kubaa RA,Savino V,Saponari M

    更新日期:2013-10-01 00:00:00

  • LNA probe-based assay for the detection of Tomato black ring virus isolates.

    abstract::Tomato black ring virus (TBRV) infects a wide range of economically important plant species worldwide. In the present study we developed a locked nucleic acid (LNA) real-time RT-PCR assay for accurate detection of genetically diverse TBRV isolates collected from different hosts. The assay based on the LNA probe has a ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Hasiów-Jaroszewska B,Rymelska N,Borodynko N

    更新日期:2015-02-01 00:00:00

  • New polymorphisms within the variable number tandem repeat (VNTR) 7 locus of Mycobacterium avium subsp. paratuberculosis.

    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


    authors: Fawzy A,Zschöck M,Ewers C,Eisenberg T

    更新日期:2016-06-01 00:00:00

  • The specificity of pilin DNA sequences for the detection of pathogenic Neisseria.

    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


    authors: Kolberg JA,Besemer DJ,Stempien MM,Urdea MS

    更新日期:1989-03-01 00:00:00

  • Screening for cystic fibrosis in dried blood spots of newborns.

    abstract::We propose a newborn cystic fibrosis (CF) screening test based on the analysis of dried blood spot DNA by a strategy involving simple or multiplex denaturing gradient gel electrophoresis (DGGE) of PCR products of CFTR gene fragments, in conjunction with the immunoreactive-trypsin (IRT) assay. From May 1988 to May 1992...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Audrézet MP,Costes B,Ghanem N,Fanen P,Verlingue C,Morin JF,Mercier B,Goossens M,Férec C

    更新日期:1993-12-01 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

  • Development of TaqMan RT-qPCR for the detection of type A human respiratory syncytial virus.

    abstract::The human respiratory syncytial virus is a common respiratory pathogen in children. Improved diagnosis of the virus is dependent on the development of tools for the rapid detection and estimation of the viral loads. In the current study, RT-qPCR using TaqMan hydrolysis probe based on the F gene detection was developed...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Abdel-Moneim AS,Shehab GM,Alsulaimani AA,Al-Malky MIR

    更新日期:2017-06-01 00:00:00

  • SNP genotyping with FRET probes. Optimizing the resolution of heterozygotes.

    abstract::Analysis of single nucleotide polymorphisms by PCR with fluorescence resonance energy transfer (FRET) probes often can produce a result where the melting peak corresponding to perfectly matched sequence (A allele) has a smaller area than the peak corresponding to the allele with a mismatch (B allele). This imbalance c...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Martínez-García A,Sastre I,Tenorio R,Bullido MJ

    更新日期:2004-08-01 00:00:00

  • Detection of erythromycin resistant methylase gene by the polymerase chain reaction.

    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


    authors: Nawaz MS,Khan AA,Cerniglia CE

    更新日期:1997-10-01 00:00:00

  • The use of real-time polymerase chain reaction with high resolution melting (real-time PCR-HRM) analysis for the detection and discrimination of nematodes Bursaphelenchus xylophilus and Bursaphelenchus mucronatus.

    abstract::The real-time PCR-HRM analysis was developed for the detection and discrimination of the quarantine nematode Bursaphelenchus xylophilus and Bursaphelenchus mucronatus. A set of primers was designed to target the ITS region of rDNA. The results have demonstrated that this analysis is a valuable tool for differentiation...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Filipiak A,Hasiów-Jaroszewska B

    更新日期:2016-04-01 00:00:00

  • Selective growth of mosaic cells in chromosomal analysis of chorionic villi by conventional karyotyping.

    abstract::The major cause of first-trimester pregnancy loss is chromosomal abnormality, which could be detected by many methods. Conventional karyotyping based on chorionic villi (CV) culture is frequently used but may have limitations due to culture failure and selective growth of cells. In this study, we aimed to investigate ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Zhang Y,Lei Q,Liu J,Lin M,Luo L,Li T,Wang Q,Zhou C

    更新日期:2020-06-01 00:00:00

  • Characterization of Enterobius vermicularis in a human population, employing a molecular-based method from adhesive tape samples.

    abstract::Human infection with the parasitic nematode Enterobius vermicularis occurs worldwide, particularly in children. Although its prevalence may exceed 35% in some parts of the world, molecular studies of E. vermicularis in humans are limited. The aim of the present study was to investigate the genetic variation within E. ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章


    authors: Piperaki ET,Spanakos G,Patsantara G,Vassalou E,Vakalis N,Tsakris A

    更新日期:2011-04-01 00:00:00