The Experts below are selected from a list of 75 Experts worldwide ranked by ideXlab platform
Sara Palomodiez - One of the best experts on this subject based on the ideXlab platform.
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spanish allele and haplotype database for 32 x Chromosome Insertion deletion polymorphisms
Forensic Science International-genetics, 2020Co-Authors: Claudia Gomes, Jose David Quinterobrito, Jesus Martinezgomez, Rui Pedro Gomes Pereira, Carlos Baezaricher, Laura Diezjuarez, Sara PalomodiezAbstract:Abstract X-Chromosome markers have been proved to be decisive both complementing and solving kinship analysis, particularly when autosomal markers are not able to produce adequate likelihood ratios between different hypothesis. On the other hand, Pereira et al., (2012) have demonstrated that 32 Insertion/Deletion (InDel) markers located on the X-Chromosome have a very important power of discrimination in human populations, being a novel tool in the forensic and population fields. So, the aim of the present work was testing the forensic and population genetic efficiency of the 32 X-InDel polymorphisms in the Spanish population, and subsequently build an allele/haplotype frequencies database. To accomplish this objective, a total of 555 samples comprising male individuals from 13 Spanish regions were analysed for the above mentioned 32 X-InDels in two independent laboratories. A pairwise FST analysis was performed in order to understand if the studied Spanish sub-populations present significant differences among them, detecting possible population substructure. Also, linkage disequilibrium analyses were computed to investigate the presence of association between markers in the Spanish population. After Bonferroni correction, the absence of significant differences among the studied regions supports a global Spanish population database. Concerning LD, besides previously reported linked markers MID356-MID357 and MID3690-MID3719-MID2089, we also detected significant association between MID3703-MID3774, even after Bonferroni correction. Finally, after computing allele and haplotype frequencies, forensic efficiency parameters were calculated (PDmales = 99.999976 %; PDfemales = 99.99999999998 %). Mean exclusion chance values for duos were 0.999 and trios 0.99999. These results reinforce the suitability of the 32 X-InDels marker set both in identification and kinship studies.
Claudia Gomes - One of the best experts on this subject based on the ideXlab platform.
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spanish allele and haplotype database for 32 x Chromosome Insertion deletion polymorphisms
Forensic Science International-genetics, 2020Co-Authors: Claudia Gomes, Jose David Quinterobrito, Jesus Martinezgomez, Rui Pedro Gomes Pereira, Carlos Baezaricher, Laura Diezjuarez, Sara PalomodiezAbstract:Abstract X-Chromosome markers have been proved to be decisive both complementing and solving kinship analysis, particularly when autosomal markers are not able to produce adequate likelihood ratios between different hypothesis. On the other hand, Pereira et al., (2012) have demonstrated that 32 Insertion/Deletion (InDel) markers located on the X-Chromosome have a very important power of discrimination in human populations, being a novel tool in the forensic and population fields. So, the aim of the present work was testing the forensic and population genetic efficiency of the 32 X-InDel polymorphisms in the Spanish population, and subsequently build an allele/haplotype frequencies database. To accomplish this objective, a total of 555 samples comprising male individuals from 13 Spanish regions were analysed for the above mentioned 32 X-InDels in two independent laboratories. A pairwise FST analysis was performed in order to understand if the studied Spanish sub-populations present significant differences among them, detecting possible population substructure. Also, linkage disequilibrium analyses were computed to investigate the presence of association between markers in the Spanish population. After Bonferroni correction, the absence of significant differences among the studied regions supports a global Spanish population database. Concerning LD, besides previously reported linked markers MID356-MID357 and MID3690-MID3719-MID2089, we also detected significant association between MID3703-MID3774, even after Bonferroni correction. Finally, after computing allele and haplotype frequencies, forensic efficiency parameters were calculated (PDmales = 99.999976 %; PDfemales = 99.99999999998 %). Mean exclusion chance values for duos were 0.999 and trios 0.99999. These results reinforce the suitability of the 32 X-InDels marker set both in identification and kinship studies.
Mine Harada - One of the best experts on this subject based on the ideXlab platform.
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two acute monocytic leukemia aml m5a cell lines molm 13 and molm 14 with interclonal phenotypic heterogeneity showing mll af9 fusion resulting from an occult Chromosome Insertion ins 11 9 q23 p22p23
Leukemia, 1997Co-Authors: Y Matsuo, Roderick A F Macleod, Cord C Uphoff, Hans G Drexler, Chiharu Nishizaki, Yoshio Katayama, Goro Kimura, Nobuharu Fujii, Eijiro Omoto, Mine HaradaAbstract:We describe two new human leukemia cell lines, MOLM-13 and MOLM-14, established from the peripheral blood of a patient at relapse of acute monocytic leukemia, FAB M5a, which had evolved from myelodysplastic syndrome (MDS). Both cell lines express monocyte-specific esterase (MSE) and MLL-AF9 fusion mRNA. Gene fusion is associated with a minute chromosomal Insertion, ins(11;9)(q23;p22p23). MOLM-13 and MOLM-14 are the first cell lines with, and represent the third reported case of, MLL gene rearrangement arising via chromosomal Insertion. Both cell lines carry trisomy 8 which was also present during the MDS phase, as well as the most frequent trisomies associated with t(9;11), ie, +6, +13, +19 variously present in different subclones. Despite having these features in common, differences in antigen expression were noted between the two cell lines: that of MOLM-13 being CD34+, CD13-, CD14-, CD15+, CD33+; whereas MOLM-14 was CD4+, CD13+, CD14+, CD15+, CD33+. Differentiation to macrophage-like morphology could be induced in both cell lines after stimulation with INF-gamma alone, or in combination with TNF-alpha, which treatment also induced or upregulated, expression of certain myelomonocyte-associated antigens, including CD13, CD14, CD15, CD64, CD65 and CD87. Together, these data confirm that both cell lines are likely to be novel in vitro models for studying monocytic differentiation and leukemogenesis.
Marc De Braekeleer - One of the best experts on this subject based on the ideXlab platform.
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X Chromosome Insertion in the MLL gene in a case of childhood acute myeloblastic leukemia.
Cancer genetics and cytogenetics, 2004Co-Authors: Bertrand Arnaud, Frédéric Morel, Nathalie Douet-guilbert, Marie-josée Le Bris, Marc De BraekeleerAbstract:Band 11q23 is known to be involved in translocations and Insertions with a variety of partner Chromosomes. These lead to MLL rearrangement, resulting in a fusion with numerous genes. We report here the case of a 5-month-old boy presenting with hemianopsia and severe diffuse intravascular coagulopathy in whom a diagnosis of acute myeloblastic leukemia (AML) French-American-British M4 classification was made. Conventional cytogenetic techniques showed an ins(11;X) (q23;q28q12). Fluorescent in situ hybridization (FISH) with whole Chromosome paints confirmed this finding. Using a specific probe, the MLL gene was found to be disrupted, a portion of the X Chromosome being inserted between the 5' and 3' regions of the MLL gene. Although some cases of Insertion involving Chromosomes X and 11 have been reported in AML, this appears to be the first case involving band Xq28. We postulate that this chromosomal rearrangement led to the fusion of the 5' region of the MLL gene with a yet unidentified gene located in band Xq28.
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Short communication X Chromosome Insertion in the MLL gene in a case of childhood acute myeloblastic leukemia
2004Co-Authors: Bertrand Arnaud, Nathalie Douet-guilbert, Marc De BraekeleerAbstract:Band 11q23 is known to be involved in translocations and Insertions with a variety of partner Chromosomes. These lead to MLL rearrangement, resulting in a fusion with numerous genes. We report here the case of a 5-month-old boy presenting with hemianopsia and severe diffuse intravascu- lar coagulopathy in whom a diagnosis of acute myeloblastic leukemia (AML) French-American- British M4 classification was made. Conventional cytogenetic techniques showed an ins(11;X) (q23;q28q12). Fluorescent in situ hybridization (FISH) with whole Chromosome paints confirmed this finding. Using a specific probe, the MLL gene was found to be disrupted, a portion of the X Chromosome being inserted between the 5' and 3' regions of the MLL gene. Although some cases of Insertion involving Chromosomes X and 11 have been reported in AML, this appears to be the first case involving band Xq28. We postulate that this chromosomal rearrangement led to the fusion of the 5' region of the MLL gene with a yet unidentified gene located in band Xq28. 2004
John T Turner - One of the best experts on this subject based on the ideXlab platform.
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integrative cloning expression and stability of the cryia c gene from bacillus thuringiensis subsp kurstaki in a recombinant strain of clavibacter xyli subsp cynodontis
Applied and Environmental Microbiology, 1994Co-Authors: J S Lampel, Gayle L Canter, Michael B Dimock, Jeffrey L Kelly, James J Anderson, Brenda B Uratani, James S Foulke, John T TurnerAbstract:A bacterial endophyte was engineered for insecticidal activity against the European corn borer. The cryIA(c) gene from Bacillus thuringiensis subsp. kurstaki was introduced into the Chromosome of Clavibacter xyli subsp. cynodontis by using an integrative plasmid vector. The integration vectors pCG740 and pCG741 included the replicon pGEM5Zf(+), which is maintained in Escherichia coli but not in C. xyli subsp. cynodontis; tetM as a marker for selection in C. xyli subsp. cynodontis; and a chromosomal fragment of C. xyli subsp. cynodontis to allow for homologous recombination between the vector and the bacterial Chromosome. Insertion of vector DNA into the Chromosome was demonstrated by DNA hybridization. Recombinant strains MDR1.583 and MDR1.586 containing the cryIA(c) gene were shown to produce the 133,000-kDa protoxin and several smaller immunoreactive proteins. Both strains were equally toxic to insect larvae in bioassays. Significant insecticidal activity was demonstrated in planta. The cryIA(c) gene and the tetM gene introduced into strain MDR1.586 were shown to be deleted from some cells, thereby giving rise to a noninsecticidal segregant population. In DNA hybridization experiments and insect bioassays, these segregants were indistinguishable from the wild-type strain. Overall, these results demonstrate the plausibility of genetically engineered bacterial endophytes for insect control. Images