Régulation épigénétique au locus humain de la [bêta]-globine lors de la différenciation de cellules ES

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Localisation d'un locus pour trait quantitatif pour l'hypertension sur le chromosome 18 du rat Dahl

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Localisation d'un locus pour trait quantitif pour l'hypertension sur le chromosome 2 du rat Dahl

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Le locus EED de la partie amino-terminale de l'hélice AID confère des cinétiques d'inactivation lentes au canal calcique Ca�1.2

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

El "Análisis de Correspondencias Múltiples" como herramienta metodológica de síntesis teórica y empírica : Su aporte al estudio del locus universitario privado argentino (1955-1983)

El Análisis de Correspondencias Múltiples (ACM), recurso metodológico utilizado por Bourdieu y su equipo en un nivel avanzado de síntesis teórico-empírica, constituye una herramienta fundamental para la construcción analítica de espacios relacionales. Permite posicionar relacionalmente unidades de análisis en función de un conjunto determinado de variables y plasmar la multiplicidad resultante tanto gráfica como analíticamente. Comenzando por una reflexión general sobre las potencialidades de la herramienta, este artículo analiza la configuración del espacio universitario privado en Argentina (1955-1983) a partir del ACM, que permitió determinar las relaciones de homología y principios de diferenciación existentes entre las instituciones que lo componen.

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. RESULTS: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. CONCLUSION: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk

Toledo, locus terribilis. Iglesia y milagro en el De viris illustribus de Ildefonso de Toledo

A mediados del siglo VII, el obispo Ildefonso de Toledo (657-667) elaboró su propio catálogo de hombres ilustres, continuando una tradición cuyos orígenes cristianos se remontaban a Jerónimo en el siglo IV. Sin embargo, en lugar de reproducir los modelos de sus antecesores cristianos, entre los que se incluyen además a Genadio de Marsella e Isidoro de Sevilla, el De viris illustribus de Ildefonso incorporaba cambios significativos en el género. Este artículo estudia el tópico del milagro en el opúsculo toledano con el objetivo de indagar qué tipo de relación estableció la Iglesia visigoda de la segunda mitad del siglo VII con este tipo de fenómenos y qué estrategias elaboró en función de él.

Characterization of IGH locus breakpoints in multiple myeloma indicates a subset of translocations appear to occur in pregerminal center B cells.

Translocations in myeloma are thought to occur solely in mature B cells in the germinal center through class switch recombination (CSR). We used a targeted captured technique followed by massively parallel sequencing to determine the exact breakpoints in both the immunoglobulin heavy chain (IGH) locus and the partner chromosome in 61 presentation multiple myeloma samples. The majority of samples (62%) have a breakpoint within the switch regions upstream of the IGH constant genes and are generated through CSR in a mature B cell. However, the proportion of CSR translocations is not consistent between cytogenetic subgroups. We find that 100% of t(4;14) are CSR-mediated; however, 21% of t(11;14) and 25% of t(14;20) are generated through DH-JH recombination activation gene-mediated mechanisms, indicating they occur earlier in B-cell development at the pro-B-cell stage in the bone marrow. These 2 groups also generate translocations through receptor revision, as determined by the breakpoints and mutation status of the segments used in 10% and 50% of t(11;14) and t(14;20) samples, respectively. The study indicates that in a significant number of cases the translocation-based etiological events underlying myeloma may arise at the pro-B-cell hematological progenitor cell level, much earlier in B-cell development than was previously thought.

A Metamorfose do Estudante: análise das relações entre o locus de controlo e a adaptação dos estudantes de primeiro ano do ensino superior

O fenómeno de massificação do Ensino Superior que surgiu décadas atrás, tem colocado em relevância o tema da adaptação dos estudantes ao novo contexto universitário. As instituições de Ensino vêem-se confrontadas em se adaptar as exigências de uma população estudantil heterogénea. Por outro lado, os estudantes deparam-se com inúmeros desafios que apelam a uma maior autonomia no sentido de uma melhor adaptação à mudança. No presente estudo, pretende-se essencialmente analisar a influência do locus de controlo na adaptação dos alunos do primeiro ano de Ensino Superior do Instituto Superior Miguel Torga. Noventa e três alunos concordaram em participar no preenchimento de dois questionários, o Questionário de Vivências Académicas (versão reduzida), QVA-r (Almeida, Soares & Ferreira, 1999) e a escala I-E de Rotter (1966). Os resultados apontam para a existência de uma correlação negativa entre o locus de controlo externo e a adaptação, sugerindo que quanto mais externo é o tipo de locus de controlo menor é a adaptação do indivíduo. Ademais, também foram encontradas relações entre algumas variáveis sócio-demográficas na adaptação dos alunos do primeiro ano. / The massification phenomena of Higher Education, appeared decades ago, it has emphasized the theme of students adaptation to the new college context. The Teaching institutions are confronted with new demands of a more and more heterogeneous student population. On another hand, students come across with countless challenges, urging to a greater autonomy towards a better changing adaptation. At the present study, it is essentially intended to analyze the locus of control influence in the adaptation of Higher Education first year students, in Instituto Superior Miguel Torga. Ninety three students agreed to participate and fill in two questionnaires, Questionário de Vivências Académicas (short version) (Almeida, Soares & Ferreira, 1999) and Rotter´s I-E scale (1966). The results, point to the existence of a negative correlation between external locus of control and adaptation, suggesting the more external is the locus of control, the less is individual adaptation. Furthermore, it has also been found relations between some socio-demographic variables in first year student’s adaptation.

Locus de controle e a efetividade empresarial em microempresários do estado do Rio Grande do Norte

Entrepreneurs are individuals who can transform economic and social realities by promoting development, so it became important tools in generating externalities in regions where they operate. In Brazil, 59.9% of new ventures do not reach the fourth year of life, the mortality rate of new ventures is high. The causes of mortality are numerous, and within the behavioral aspects, one is the locus of control. This study determines the degree of association between internal locus of control and achieving business success of entrepreneurs in Rio Grande do Norte who participated in the workshop EMPRETEC. The approach that studies the behavior entrepreneurs agreed that there are psychological characteristics associated with a set of values, attitudes and needs that determine the behavior and induce the entrepreneur to achieve success. Among these features is the locus of control, a skill that individuals must identify in their actions, or lack of them, the causes of their successes and failures. The locus is external when the individual attributes to factors outside themselves as causes of their results, and is built in when you can identify the actions that led to success. We surveyed 223 entrepreneurs statewide who answered the questionnaire for assessing the scale of locus of control, selfassessment questionnaire of entrepreneurial characteristics of EMPRETEC and a questionnaire assessing the business success. 71.9% were identified as having success. Among the behavioral characteristics strongest in the group of entrepreneurs are setting goals and commitment. Was found for locus of control mean value of 7.35, confidence interval between 7.05 and 7.66. Showing that the locus of control group is predominantly internal. We also found a correlation between the locus and commitment, between setting goals and commitment; calculated risks and information search; search of information and commitment, and between commitment and independence and self confidence. Dependence was not identified among the set of features and business success, determining the absence of an ideal profile. However, logistic regression significant association was found indicating that the smaller the individual's locus of control increased the likelihood of it achieving business success

megaTAL-mediated Gene Editing at the CCR5 locus

Thesis (Ph.D.)--University of Washington, 2016-08

Braid groups, mapping class groups, and Torelli groups

This thesis discusses subgroups of mapping class groups of particular surfaces. First, we study the Torelli group, that is, the subgroup of the mapping class group that acts trivially on the first homology. We investigate generators of the Torelli group, and we give an algorithm that factorizes elements of the Torelli group into products of particular generators. Furthermore, we investigate normal closures of powers of standard generators of the mapping class group of a punctured sphere. By using the Jones representation, we prove that in most cases these normal closures have infinite index in the mapping class group. We prove a similar result for the hyperelliptic mapping class group, that is, the group that consists of mapping classes that commute with a fixed hyperelliptic involution. As a corollary, we recover an older theorem of Coxeter (with 2 exceptional cases), which states that the normal closure of the m-th power of standard generators of the braid group has infinite index in the braid group. Finally, we study finite index subgroups of braid groups, namely, congruence subgroups of braid groups. We discuss presentations of these groups and we provide a topological interpretation of their generating sets.

Locus of Control revisited: development of a new bi-dimensional measure

Locus of control (LOC) has a long tradition in Psychology, and various instruments have been designed for its measurement. However, the dimensionality of the construct is unclear, and still gives rise to considerable controversy. The aim of the present work is to present new evidence of validity in relation to the dimensionality of LOC. To this end, we developed a new measurement instrument with 23 items. The sample was made up of 697 Spanish participants, of whom 57.5% were women (M=22.43; SD= 9.19). The results support the bi-dimensionality of LOC: internal (&#945;=.87) and external (&#945;=.85). Furthermore, both subscales have shown adequate validity evidence in relation to self-efficacy, achievement motivation and optimism (r xy&gt; .21). Statistically significant differences were found by sex (p < .05): men scored higher in external LOC and women in internal LOC. The validity evidence supports a two-dimensional structure for the LOC, and the measurement instrument developed showed adequate psychometric properties.

Navegando a tempestade num copo de álcool: locus de controlo de saúde e depressão em alcoólicos em tratamento

Dissertação de Mestrado apresentada no Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Clínica