3,443 research outputs found

    CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature

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    Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features. He has developed ichthyosis and palmoplantar keratoderma as he has grown. Exome sequencing identified a homozygous nonsense mutation in SNAP29 gene designated as c.85C>T (p.Arg29X). The authors compare the findings in the proband with previously reported cases. The previously unreported mutation in this patient and his phenotype add to the characterization of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome and the accumulating scientific evidence that implicates synaptic protein dysfunction in various neuroectodermal conditions

    Colonial Catholicism in British North America: American and Canadian Catholic Identities in the Age of Revolution

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    Thesis advisor: André BrouilletteThesis advisor: Maura Jane FarrellyThe purpose of this thesis is to better understand American colonial Catholicism through a comparative study of it with Catholicism in colonial Canada, both before and after the British defeat of the French in 1759, in the period of the American Revolution. Despite a shared faith, ecclesiastical leaders in Canada were wary of the revolutionary spirit and movement in the American colonies, participated in by American Catholics, and urged loyalty to the British crown. The central question of the study is as follows: why did the two groups, American Catholics (the Maryland Tradition) and Canadian Catholics (the Quebec Tradition), react so differently to British colonial rule in the mid eighteenth-century? Developing an understanding of the religious identities of American and Canadian Catholics and their interaction during the period will help shed light on their different approaches to political ideals of the Enlightenment and their Catholic faithThesis (STL) — Boston College, 2017.Submitted to: Boston College. School of Theology and Ministry.Discipline: Sacred Theology

    Detecting compact binary coalescences with seedless clustering

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    Community service learning: Preparing female students in the United Arab Emirates for the workplace

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    A learning community where students develop the knowledge, skills and abilities needed for meaningful and successful 21st century work and life is the vision for higher education programs in the Middle East. A successful learning community of faculty members, students, and site supervisors in a variety of community programs are working together to achieve this objective, and are jointly engaged in the pursuit of excellence and the development of human potential. It is Zayed University\u27s goal to assure that students develop the higher-order intellectual capacities and technological skills they will need to succeed in a rapidly changing and increasingly complex world. This chapter describes the model used to meet the challenges faced by first generation female college graduates in the United Arab Emirates, a model that emphasizes community service learning placements and undergraduate research projects. These first generation graduates are also those who are expected to transition into a very conservative work environment. For the majority, community placements provided through this model is the first opportunity through which they are able to have any level of workplace experience. In this chapter we will report on this innovative community service program model experienced by students and will address challenges and successes of this program model which utilizes undergraduate student research, community involvement and the integration of female graduates into the workforce. We will share how this model provided insights into the work experience, as reported in students\u27 journal reflections. An effective service learning program and undergraduate research involvement allowed these graduates to put theory into practice, develop habits of self analysis and reflective thinking, and contribute towards a greater understanding of organizational structures. © 2011, IGI Global

    Serine protease inhibitors serpina1 and serpina3 are down-regulated in bone marrow during hematopoietic progenitor mobilization

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    Mobilization of hematopoietic progenitor cells into the blood involves a massive release of neutrophil serine proteases in the bone marrow. We hypothesize that the activity of these neutrophil serine proteases is regulated by the expression of naturally occurring inhibitors (serpina1 and serpina3) produced locally within the bone marrow. We found that serpina1 and serpina3 were transcribed in the bone marrow by many different hematopoietic cell populations and that a strong reduction in expression occurred both at the protein and mRNA levels during mobilization induced by granulocyte colony-stimulating factor or chemotherapy. This decreased expression was restricted to the bone marrow as serpina1 expression was maintained in the liver, leading to no change in plasma concentrations during mobilization. The down-regulation of serpina1 and serpina3 during mobilization may contribute to a shift in the balance between serine proteases and their inhibitors, and an accumulation of active neutrophil serine proteases in bone marrow extravascular fluids that cleave and inactivate molecules essential to the retention of hematopoietic progenitor cells within the bone marrow. These data suggest an unexpected role for serpina1 and serpina3 in regulating the bone marrow hematopoietic microenvironment as well as influencing the migratory behavior of hematopoietic precursors
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