Search results for "FRAM"
showing 10 items of 2142 documents
Supporting fine-grained generative model-driven evolution
2010
Published version of an article in the journal: Software and Systems Modeling. Also available on SpringerLink:http://dx.doi.org/10.1007/s10270-009-0144-1 In the standard generative Model-driven Architecture (MDA), adapting the models of an existing system requires re-generation and restarting of that system. This is due to a strong separation between the modeling environment and the runtime environment. Certain current approaches remove this separation, allowing a system to be changed smoothly when the model changes. These approaches are, however, based on interpretation of modeling information rather than on generation, as in MDA. This paper describes an architecture that supports fine-gra…
Standard vs random dictator games: On the effects of role uncertainty and framing on generosity
2021
This project was conducted while Ernesto Mesa-Vázquez was visiting Universidad Loyola Andalucia. He wants to particularly thank Pablo Brañas-Garza and Diego Jorrat for continued guidance and assessment with the experimental design. Álvaro Núñez-Bermúdez and the faculty members of the Economics and Business Sciences department at the University of Seville were very helpful in providing assistance for running the experiment. The paper has benefited from comments and suggestions provided by Maria Paz Espinosa, Giuseppe Attanassi, José Enrique Vila, Iván Arribas, Marco Faillo, Cristina Borra and participants at the Loyola Behavioral Lab and the Early Career Researchers in Experimental Economics…
Genome organization and nucleotide sequence of human papillomavirus type 39
1991
The 7833-bp nucleotide sequence of human papillomavirus type 39 (HPV39), which is associated with genital intraepithelial neoplasias and invasive carcinomas, has been determined. The genome organization deduced from the sequence shares characteristic features with other genital papillomaviruses. According to sequence comparisons, HPV39 most closely resembles HPV18 and may be a member of a subgroup of genital papillomaviruses distinct from the HPV16/31/33 group. As a novel feature, we report a 1.3-kb open reading frame on the DNA strand which lacks major open reading frames in the other sequenced HPV genomes.
Basic phenotypic analysis of six novel yeast genes reveals two essential genes and one which affects the growth rate
1999
Phenotypic analysis was performed on six mutants of Saccharomyces cerevisiae deleted in one of the following open reading frames (ORFs), located on chromosome II: YBR254c, YBR255w, YBR257w, YBR258c, YBR259w and YBR266c. Disruption of the ORFs was carried out in the diploid strain FY1679 using the kanMX4 marker flanked by short sequences homologous to the target locus. Tetrad analysis following sporulation of the heterozygous disruptants showed that YBR254c and YBR257w are essential genes. YBR257w was later characterized and renamed POP4, its gene product being involved in 5.8S rRNA and tRNA processing (Chu et al., 1997). The tetrad analysis performed for the heterozygous disruptant for YBR2…
TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs).
2009
Abstract Oncogenic pathways underlying in the development of myelodysplastic syndromes (MDS) remain poorly characterized, but mutations of the ten-eleven translocation 2 (TET2) gene are frequently observed. In the present work, we evaluated the prognostic impact of TET2 mutations in MDS. Frameshift, nonsense, missense mutations, or defects in gene structure were identified in 22 (22.9%) of 96 patients (95% confidence interval [CI], 14.5-31.3 patients). Mutated and unmutated patients did not significantly differ in initial clinical or hematologic parameters. The 5-year OS was 76.9% (95% CI, 49.2%-91.3%) in mutated versus 18.3% (95% CI, 4.2%-41.1%) in unmutated patients (P = .005). The 3-year…
Abstract 571: The shared mutation and neoantigen landscape of MMR-deficient colorectal cancers suggests immunoediting during tumor evolution
2019
Abstract The immune system can recognize and attack cancer cells and their precursors, especially those with a high load of mutation-induced neoantigens. Such neoantigens are particularly abundant in DNA mismatch repair (MMR)-deficient cancers. MMR deficiency results in microsatellite instability (MSI), which leads to multiple insertion/deletion mutations at coding microsatellites and to neoantigen-inducing translational frameshifts. The significance of immune selection and immunoediting potentially shaping the neoantigen landscape during the progression from premalignant MMR-deficient lesions into cancers has not yet been analyzed. We hypothesized that the neoantigen landscape of MSI cance…
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
2007
The Rubinstein-Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused by heterozygous mutations of the CREBBP gene, but recently, EP300 gene mutations were reported in three individuals. Using quantitative PCR (for the CREBBP and EP300 genes) and genomic sequencing (for the EP300 gene), we studied here 13 patients who had shown no mutation after genomic sequencing of the CREBBP gene in a previous investigation. Two new disease-causing mutations were identified, including a partial deletion of CREBBP and a 1-bp deletion in EP300, c.7100delC (p.P2366fsX2401). The 1-bp deletion represe…
Characterization of a Cu/Zn Superoxide dismutase-encoding gene region in Drosophila willistoni
1994
A Cu/Zn superoxide dismutase-encoding gene (Sod) from Drosophila willistoni was cloned and sequenced. The gene shows a typical structure for a fruit-fly Sod gene, with a coding region of 462 bp in two exons separated by a 417-bp intron. Comparison of the Sod sequences from D. willistoni and D. melanogaster suggests that these species are only remotely related. Downstream from the Sod gene, there is an ORF on the opposite strand that putatively encodes the last exon of an unidentified gene. The polyadenylation signals of the two genes are separated by only 61 bp in D. willistoni, conforming to the common picture of compact dipteran genomes.
The Clinical Significance of Unknown Sequence Variants in BRCA Genes.
2010
Abstract: Germline mutations in BRCA1/2 genes are responsible for a large proportion of hereditary breast and/or ovarian cancers. Many highly penetrant predisposition alleles have been identified and include frameshift or nonsense mutations that lead to the translation of a truncated protein. Other alleles contain missense mutations, which result in amino acid substitution and intronic variants with splicing effect. The discovery of variants of uncertain/unclassified significance (VUS) is a result that can complicate rather than improve the risk assessment process. VUSs are mainly missense mutations, but also include a number of intronic variants and in-frame deletions and insertions. Over …
Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression
2015
The closely related T-box transcription factors TBX2 and TBX3 are frequently overexpressed in melanoma and various types of human cancers, in particular, breast cancer. The overexpression of TBX2 and TBX3 can have several cellular effects, among them suppression of senescence, promotion of epithelial–mesenchymal transition, and invasive cell motility. In contrast, loss of function of TBX3 and most other human T-box genes causes developmental haploinsufficiency syndromes. Stephens and colleagues (1), by exome sequencing of breast tumor samples, identified five different mutations in TBX3, all affecting the DNA-binding T-domain. One in-frame deletion of a single amino acid, p.N212delN, was ob…