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Ben Zion Levi – One of the best experts on this subject based on the ideXlab platform.

  • Crohn’s Disease and SLC11A1 Promoter Polymorphism
    Digestive Diseases and Sciences, 2007
    Co-Authors: Irit Chermesh, Aviva Azriel, Michal Alter-koltunoff, Rami Eliakim, Amir Karban, Ben Zion Levi
    Abstract:

    Crohn’s disease (CD) is a chronic multifactorial inflammatory disease. The prevalence of CD in Ashkenazi Jews is higher than in Sephardic Jews. SLC11A1, also known as Nramp1, is a divalent cation antiporter essential for the elimination of intraphagosomal pathogens. SLC11A1 has seven Alleles in the promoter region and previous studies have suggested an association between CD and SLC11A1. The aim of this study was to check for a possible association between SLC11A1 promoter Alleles and CD in Ashkenazi Jewish patients. DNA samples from healthy Ashkenazi donors and Ashkenazi CD patients were obtained and analyzed for SLC11A1 promoter polymorphism by PCR and DNA sequencing. One hundred thirty-one samples from healthy donors and 131 samples from CD patients were analyzed. Four Alleles were identified: ∼70% of the samples carried allele 3; ∼30%, allele 2; ∼1%, allele 1; and

  • Crohn’s disease and SLC11A1 promoter polymorphism.
    Digestive Diseases and Sciences, 2007
    Co-Authors: Irit Chermesh, Aviva Azriel, Michal Alter-koltunoff, Rami Eliakim, Amir Karban, Ben Zion Levi
    Abstract:

    Crohn’s disease (CD) is a chronic multifactorial inflammatory disease. The prevalence of CD in Ashkenazi Jews is higher than in Sephardic Jews. SLC11A1, also known as Nramp1, is a divalent cation antiporter essential for the elimination of intraphagosomal pathogens. SLC11A1 has seven Alleles in the promoter region and previous studies have suggested an association between CD and SLC11A1. The aim of this study was to check for a possible association between SLC11A1 promoter Alleles and CD in Ashkenazi Jewish patients. DNA samples from healthy Ashkenazi donors and Ashkenazi CD patients were obtained and analyzed for SLC11A1 promoter polymorphism by PCR and DNA sequencing. One hundred thirty-one samples from healthy donors and 131 samples from CD patients were analyzed. Four Alleles were identified: ∼70% of the samples carried allele 3; ∼30%, allele 2; ∼1%, allele 1; and

  • crohn s disease and slc11a1 promoter polymorphism
    Digestive Diseases and Sciences, 2007
    Co-Authors: Irit Chermesh, Aviva Azriel, Rami Eliakim, Amir Karban, Michal Alterkoltunoff, Ben Zion Levi
    Abstract:

    Crohn’s disease (CD) is a chronic multifactorial inflammatory disease. The prevalence of CD in Ashkenazi Jews is higher than in Sephardic Jews. SLC11A1, also known as Nramp1, is a divalent cation antiporter essential for the elimination of intraphagosomal pathogens. SLC11A1 has seven Alleles in the promoter region and previous studies have suggested an association between CD and SLC11A1. The aim of this study was to check for a possible association between SLC11A1 promoter Alleles and CD in Ashkenazi Jewish patients. DNA samples from healthy Ashkenazi donors and Ashkenazi CD patients were obtained and analyzed for SLC11A1 promoter polymorphism by PCR and DNA sequencing. One hundred thirty-one samples from healthy donors and 131 samples from CD patients were analyzed. Four Alleles were identified: ∼70% of the samples carried allele 3; ∼30%, allele 2; ∼1%, allele 1; and <1%, allele 5. There was no difference in allele frequencies between healthy donors and CD patients. No correlation was found between mutations in NOD2/CARD15 and the phenotype of CD. We conclude that the difference in SLC11A1 promoter polymorphism plays no role in CD in Ashkenazi Jews.

Hirohiko Hohjoh – One of the best experts on this subject based on the ideXlab platform.

  • A novel measurement of allele discrimination for assessment of allele-specific silencing by RNA interference.
    Molecular biology reports, 2014
    Co-Authors: Masaki Takahashi, Hirohiko Hohjoh
    Abstract:

    Allele-specific silencing by RNA interference (ASP-RNAi) is an atypical RNAi that is capable of discriminating target Alleles from non-target Alleles, and may be therapeutically useful for specific inhibition of disease-causing Alleles without affecting their corresponding normal Alleles. However, it is difficult to design and select small interfering RNA (siRNAs) that confer ASP-RNAi. A major problem is that there are few appropriate measures in determining optimal allele-specific siRNAs. Here we show two novel formulas for calculating a new measure of allele-discrimination, named “ASP-score”. The formulas and ASP-score allow for an unbiased determination of optimal siRNAs, and may contribute to characterizing such allele-specific siRNAs.

  • Allele-specific silencing by RNA interference.
    Methods in molecular biology (Clifton N.J.), 2010
    Co-Authors: Hirohiko Hohjoh
    Abstract:

    Allele-specific gene silencing by RNA interference (RNAi) is therapeutically useful for specifically inhibiting the expression of disease-associated Alleles without suppressing the expression of corresponding wild-type Alleles. To realize such allele-specific RNAi (ASP-RNAi), the design and assessment of small interfering RNA (siRNA) duplexes conferring ASP-RNAi is vital; however, it is also difficult. We have developed an assay system with reporter Alleles that encode the Photinus and Renilla luciferase genes carrying mutant and wild-type allelic sequences in their 3′-untranslated regions. The assay system allows us to evaluate designed siRNAs and also short hairpin RNAs for allele-specific silencing against target mutant Alleles as well as off-target silencing against corresponding wild-type Alleles simultaneously in a qualitative and quantitative manner.

  • Assessment of allele-specific gene silencing by RNA interference with mutant and wild-type reporter Alleles.
    Journal of RNAi and gene silencing : an international journal of RNA and gene targeting research, 2006
    Co-Authors: Yusuke Ohnishi, Katsushi Tokunaga, Kiyotoshi Kaneko, Hirohiko Hohjoh
    Abstract:

    Allele-specific gene silencing by RNA interference (RNAi) is therapeutically useful for specifically suppressing the expression of Alleles associated with disease. To realize such allele-specific RNAi (ASPRNAi), the design and assessment of small interfering RNA (siRNA) duplexes conferring ASP-RNAi is vital, but is also difficult. Here, we show ASP-RNAi against the Swedish- and London-type amyloid precursor protein (APP) variants related to familial Alzheimer’s disease using two reporter Alleles encoding the Photinus and Renilla luciferase genes and carrying mutant and wild-type allelic sequences in their 3’- untranslated regions. We examined the effects of siRNA duplexes against the mutant Alleles in allele-specific gene silencing and off-target silencing against the wild-type allele under heterozygous conditions, which were generated by cotransfecting the reporter Alleles and siRNA duplexes into cultured human cells. Consistently, the siRNA duplexes determined to confer ASP-RNAi also inhibited the expression of the bona fide mutant APP and the production of either amyloid 40- or 42-peptide in Cos-7 cells expressing both the full-length Swedish- and wild-type APP Alleles. The present data suggest that the system with reporter Alleles may permit the preclinical assessment of siRNA duplexes conferring ASP-RNAi, and thus contribute to the design and selection of the most suitable of such siRNA duplexes.

Lonneke Haerwigman – One of the best experts on this subject based on the ideXlab platform.

  • frequency and characterization of known and novel rhd variant Alleles in 37 782 dutch d negative pregnant women
    British Journal of Haematology, 2016
    Co-Authors: Tamara C Stegmann, Barbera Veldhuisen, Remco Jonkers, Masja De Haas, Renate Bijman, Florentine F Thurik, Bernadette Bossers, Goedele Cheroutre, Peter Ligthart, Lonneke Haerwigman
    Abstract:

    To guide anti-D prophylaxis, Dutch D- pregnant women are offered a quantitative fetal-RHD-genotyping assay to determine the RHD status of their fetus. This allowed us to determine the frequency of different maternal RHD variants in 37 782 serologically D- pregnant women. A variant allele is present in at least 0.96% of Dutch D- pregnant women The D- serology could be confirmed after further serological testing in only 54% of these women, which emphasizes the potential relevance of genotyping of blood donors. 43 different RHD variant Alleles were detected, including 15 novel Alleles (11 null-, 2 partial D- and 2 DEL-Alleles). Of those novel null Alleles, one allele contained a single missense mutamutation (RHD*443C>G) and one allele had a single amino acid deletion (RHD*424_426del). The D- phenotype was confirmed by transduction of human D- erythroblasts, consolidating that, for the first time, a single amino acid change or deletion causes the D- phenotype. Transduction also confirmed the phenotypes for the two new variant DEL-Alleles (RHD*721A>C and RHD*884T>C) and the novel partial RHD*492C>A allele. Notably, in three additional cases the DEL phenotype was observed but sequencing of the coding sequence, flanking introns and promoter region revealed an apparently wild-type RHD allele without mutations.

  • rhd and rhce variant and zygosity genotyping via multiplex ligation dependent probe amplification
    Transfusion, 2013
    Co-Authors: Barbera Veldhuisen, Remco Jonkers, Martin Lodén, Tracey E. Madgett, Lonneke Haerwigman
    Abstract:

    Background The presence of a D variant may hamper correct serologic D typing, which may result in D immunization. D variants can be determined via RHD genotyping. However, a convenient single assay to identify D variants is still lacking. We developed and evaluated a multiplex ligation–dependent probe amplification (MLPA) assay to determine clinically relevant RHD and RHCE variant Alleles and RHD zygosity. Study design and methods We analyzed 236 cases (73 normal and 163 selected samples) with the RH-MLPA assay, which is able to determine 79 RHD and 17 RHCE variant Alleles and RHD zygosity. To confirm the results, mutations were verified by RHD and/or RHCE exon–specific sequencing and RHD zygosity was verified by quantitative real-time polymerase chain reaction (PCR) for 18 cases. Results In 99% of the cases, the RH-MLPA assay correctly determined whether a person carried only wild-type RHD and RHCE Alleles (n = 69) or (a) variant RHD allele(s) and/or (a) variant RHCE allele(s) (n = 164). In only three cases, including two new RHD variant Alleles, the variant allele was not identified, due to lack of detecting probes. These were RHD*DCS2, a new partial RHD allele, RHD*525T (Phe175Leu), and a new D– null allele, RHD*443G (Thr148Arg). All RHD (n = 175) and RHCE variant Alleles (n = 79) indicated by the RH-MLPA assay were confirmed by sequencing. RHD zygosity was confirmed by quantitative PCR. Two hematopoietic chimeras were recognized. Conclusion The RH-MLPA genotyping assay is a fast, easy, and reliable method to determine almost all clinically relevant RHD and RHCE variant Alleles, RHD zygosity, and RHD+/RHD– chimeras in blood donors, blood recipients, and pregnant women.

Tracey E. Madgett – One of the best experts on this subject based on the ideXlab platform.

  • rhd and rhce variant and zygosity genotyping via multiplex ligation dependent probe amplification
    Transfusion, 2013
    Co-Authors: Barbera Veldhuisen, Remco Jonkers, Martin Lodén, Tracey E. Madgett, Lonneke Haerwigman
    Abstract:

    Background The presence of a D variant may hamper correct serologic D typing, which may result in D immunization. D variants can be determined via RHD genotyping. However, a convenient single assay to identify D variants is still lacking. We developed and evaluated a multiplex ligation–dependent probe amplification (MLPA) assay to determine clinically relevant RHD and RHCE variant Alleles and RHD zygosity. Study design and methods We analyzed 236 cases (73 normal and 163 selected samples) with the RH-MLPA assay, which is able to determine 79 RHD and 17 RHCE variant Alleles and RHD zygosity. To confirm the results, mutations were verified by RHD and/or RHCE exon–specific sequencing and RHD zygosity was verified by quantitative real-time polymerase chain reaction (PCR) for 18 cases. Results In 99% of the cases, the RH-MLPA assay correctly determined whether a person carried only wild-type RHD and RHCE Alleles (n = 69) or (a) variant RHD allele(s) and/or (a) variant RHCE allele(s) (n = 164). In only three cases, including two new RHD variant Alleles, the variant allele was not identified, due to lack of detecting probes. These were RHD*DCS2, a new partial RHD allele, RHD*525T (Phe175Leu), and a new D– null allele, RHD*443G (Thr148Arg). All RHD (n = 175) and RHCE variant Alleles (n = 79) indicated by the RH-MLPA assay were confirmed by sequencing. RHD zygosity was confirmed by quantitative PCR. Two hematopoietic chimeras were recognized. Conclusion The RH-MLPA genotyping assay is a fast, easy, and reliable method to determine almost all clinically relevant RHD and RHCE variant Alleles, RHD zygosity, and RHD+/RHD– chimeras in blood donors, blood recipients, and pregnant women.

  • RHD and RHCE variant and zygosity genotyping via multiplex ligation–dependent probe amplification
    Transfusion, 2012
    Co-Authors: Lonneke Haer-wigman, Barbera Veldhuisen, Remco Jonkers, Martin Lodén, Tracey E. Madgett, Neil D. Avent, Masja De Haas, C. Ellen Van Der Schoot
    Abstract:

    Background The presence of a D variant may hamper correct serologic D typing, which may result in D immunization. D variants can be determined via RHD genotyping. However, a convenient single assay to identify D variants is still lacking. We developed and evaluated a multiplex ligation–dependent probe amplification (MLPA) assay to determine clinically relevant RHD and RHCE variant Alleles and RHD zygosity. Study design and methods We analyzed 236 cases (73 normal and 163 selected samples) with the RH-MLPA assay, which is able to determine 79 RHD and 17 RHCE variant Alleles and RHD zygosity. To confirm the results, mutations were verified by RHD and/or RHCE exon–specific sequencing and RHD zygosity was verified by quantitative real-time polymerase chain reaction (PCR) for 18 cases. Results In 99% of the cases, the RH-MLPA assay correctly determined whether a person carried only wild-type RHD and RHCE Alleles (n = 69) or (a) variant RHD allele(s) and/or (a) variant RHCE allele(s) (n = 164). In only three cases, including two new RHD variant Alleles, the variant allele was not identified, due to lack of detecting probes. These were RHD*DCS2, a new partial RHD allele, RHD*525T (Phe175Leu), and a new D– null allele, RHD*443G (Thr148Arg). All RHD (n = 175) and RHCE variant Alleles (n = 79) indicated by the RH-MLPA assay were confirmed by sequencing. RHD zygosity was confirmed by quantitative PCR. Two hematopoietic chimeras were recognized. Conclusion The RH-MLPA genotyping assay is a fast, easy, and reliable method to determine almost all clinically relevant RHD and RHCE variant Alleles, RHD zygosity, and RHD+/RHD– chimeras in blood donors, blood recipients, and pregnant women.

Irit Chermesh – One of the best experts on this subject based on the ideXlab platform.

  • Crohn’s Disease and SLC11A1 Promoter Polymorphism
    Digestive Diseases and Sciences, 2007
    Co-Authors: Irit Chermesh, Aviva Azriel, Michal Alter-koltunoff, Rami Eliakim, Amir Karban, Ben Zion Levi
    Abstract:

    Crohn’s disease (CD) is a chronic multifactorial inflammatory disease. The prevalence of CD in Ashkenazi Jews is higher than in Sephardic Jews. SLC11A1, also known as Nramp1, is a divalent cation antiporter essential for the elimination of intraphagosomal pathogens. SLC11A1 has seven Alleles in the promoter region and previous studies have suggested an association between CD and SLC11A1. The aim of this study was to check for a possible association between SLC11A1 promoter Alleles and CD in Ashkenazi Jewish patients. DNA samples from healthy Ashkenazi donors and Ashkenazi CD patients were obtained and analyzed for SLC11A1 promoter polymorphism by PCR and DNA sequencing. One hundred thirty-one samples from healthy donors and 131 samples from CD patients were analyzed. Four Alleles were identified: ∼70% of the samples carried allele 3; ∼30%, allele 2; ∼1%, allele 1; and

  • Crohn’s disease and SLC11A1 promoter polymorphism.
    Digestive Diseases and Sciences, 2007
    Co-Authors: Irit Chermesh, Aviva Azriel, Michal Alter-koltunoff, Rami Eliakim, Amir Karban, Ben Zion Levi
    Abstract:

    Crohn’s disease (CD) is a chronic multifactorial inflammatory disease. The prevalence of CD in Ashkenazi Jews is higher than in Sephardic Jews. SLC11A1, also known as Nramp1, is a divalent cation antiporter essential for the elimination of intraphagosomal pathogens. SLC11A1 has seven Alleles in the promoter region and previous studies have suggested an association between CD and SLC11A1. The aim of this study was to check for a possible association between SLC11A1 promoter Alleles and CD in Ashkenazi Jewish patients. DNA samples from healthy Ashkenazi donors and Ashkenazi CD patients were obtained and analyzed for SLC11A1 promoter polymorphism by PCR and DNA sequencing. One hundred thirty-one samples from healthy donors and 131 samples from CD patients were analyzed. Four Alleles were identified: ∼70% of the samples carried allele 3; ∼30%, allele 2; ∼1%, allele 1; and

  • crohn s disease and slc11a1 promoter polymorphism
    Digestive Diseases and Sciences, 2007
    Co-Authors: Irit Chermesh, Aviva Azriel, Rami Eliakim, Amir Karban, Michal Alterkoltunoff, Ben Zion Levi
    Abstract:

    Crohn’s disease (CD) is a chronic multifactorial inflammatory disease. The prevalence of CD in Ashkenazi Jews is higher than in Sephardic Jews. SLC11A1, also known as Nramp1, is a divalent cation antiporter essential for the elimination of intraphagosomal pathogens. SLC11A1 has seven Alleles in the promoter region and previous studies have suggested an association between CD and SLC11A1. The aim of this study was to check for a possible association between SLC11A1 promoter Alleles and CD in Ashkenazi Jewish patients. DNA samples from healthy Ashkenazi donors and Ashkenazi CD patients were obtained and analyzed for SLC11A1 promoter polymorphism by PCR and DNA sequencing. One hundred thirty-one samples from healthy donors and 131 samples from CD patients were analyzed. Four Alleles were identified: ∼70% of the samples carried allele 3; ∼30%, allele 2; ∼1%, allele 1; and <1%, allele 5. There was no difference in allele frequencies between healthy donors and CD patients. No correlation was found between mutations in NOD2/CARD15 and the phenotype of CD. We conclude that the difference in SLC11A1 promoter polymorphism plays no role in CD in Ashkenazi Jews.