196,121 research outputs found
DesignSpec
No full textDesignSpec is an application used to link building specifications with a Building Information Model. It is currently based around a subset of the NATSPEC collection of specification templates.\ud
This is a collaborative project with Qld Dept. of Public Works, Brisbane City Council, Woods Baggot, Rider Hunt, CSIR
A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome
No full textInherited bleeding disorders including abnormalities of platelet number and function rarely occur in a variety of dog breeds, but are probably underdiagnosed. Genetically characterized canine forms of platelet disorders provide valuable large animal models for understanding similar platelet disorders in people. Breed-specific disease associated genetic variants in only eight different genes are known to cause intrinsic platelet disorders in dogs. However, the causative genetic variant in many dog breeds has until now remained unknown. Four cases of a mild to severe bleeding disorder in Cocker Spaniel dogs are herein presented. The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (BSS). Furthermore, the lack of functional GPIb-IX-V was demonstrated by immunocytochemistry. Whole genome sequencing of one affected dog and visual inspection of the candidate genes identified a deletion in the glycoprotein IX platelet (GP9) gene. The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor, which initiates the maintenance of hemostasis after injury. Variants in human GP9 are associated with Bernard-Soulier syndrome, type C. The deletion spanned 2460 bp, and included a significant part of the single coding exon of the canine GP9 gene on dog chromosome 20. The variant results in a frameshift and premature stop codon which is predicted to truncate almost two-thirds of the encoded protein. PCR-based genotyping confirmed recessive inheritance. The homozygous variant genotype seen in affected dogs did not occur in 98 control Cocker Spaniels. Thus, it was concluded that the structural variant identified in the GP9 gene was most likely causative for the BSS-phenotype in the dogs examined. These findings provide the first large animal GP9 model for this group of inherited platelet disorders and greatly facilitate the diagnosis and identification of affected and/or normal carriers in Cocker Spaniels
Identification of missense mutation in the bovine ATP2A1 gene in the congenital pseudomyotonia od Chianina cattle: an human model of human Brody disease
No full textCongenital pseudomyotonia in Chianina cattle is a muscle function disorder very similar to that of Brody disease in humans. Mutations in the human ATP2A1 gene, encoding SERCA1, cause Brody myopathy. The analysis of the collected Chianina pedigree data suggested monogenic autosomal recessive inheritance and revealed that all 17 affected individuals traced back to a single founder. A deficiency of SERCA1 function in skeletal muscle of pseudomyotonia affected Chianina cattle was observed as SERCA1 activity in affected animals was decreased by about 70%. Linkage analysis showed that the mutation was located in the ATP2A1 gene region on BTA25 and subsequent mutation analysis of the ATP2A1 exons revealed a perfectly associated missense mutation in exon 6 (c.491G>A) leading to a p.Arg164His substitution. Arg164 represents a functionally important and strongly conserved residue of SERCA1. This study provides a suitable large animal model for human Brody disease
Loss of zinc and alteration of zinc transporters in db/db mice pancreatic islets in early type 2 diabetes
No full textBosco Mariea, Mohanasundaram Daisy, Zalewski Peter, Drogemuller Chris, Coyle Peter, Rofe Allan, Coates PT
Zinc transporters in the endocrine pancreas
No full textThe pancreas is composed of two types of cells: the exocrine (acinar) cells and endocrine (pancreatic islet) cells. Pancreatic islets have a high content of zinc (Zn) compared to exocrine tissue. Zinc is especially high in the pancreatic β cells, where it is involved in the maturation, synthesis, and secretion of insulin. Zn in the islet is regulated by zinc-buffering proteins such as metallothionein, membrane Zn transporters, and Zn-permeable ion channels such as TRPM3. There are two families of membrane protein Zn transporters: ZnT proteins lower cytosolic Zn by transporting it into organelles or out of cells while ZIP proteins increase cytosolic Zn by transporting zinc from the extracellular fluids or out of organelles into the cytosol. Some zinc transporters play specific roles in influencing insulin maturation, synthesis, and secretion. For example, ZnT8 is predominantly localized to the membranes of secretory granules in the pancreatic β cells where it is involved in incorporating Zn into crystalline structures of insulin. In both type 1 and 2 diabetes, Zn metabolism is altered and there are changes in ZnT8. A polymorphic variant of ZnT8 is associated with increase in the risk of type 2 diabetes while ZnT8 is an autoantigen in type 1 diabetes. The mechanisms by which ZnT8 is regulated and the role of other Zn transporters in pancreatic islet function are topics of much current interest, with potential implications as future therapeutic targets in diabetes.Mariea Dencey Bosco, Chris Drogemuller, Peter Zalewski, and Patrick Toby Coate
Dr. Duane M. Jackson, Morehouse College, July 2011
No full textThis video is a conversation with Dr. Duane M. Jackson. Dr. Jackson talks about his paper, "Recall and the Serial Position Effect: The Role of Primacy and Recency on Accounting Students' Performance." Jackie Daniel, AUC Woodruff Library, is the interviewer
"Reflections on the subject of Emigration from Europe with a view to Settlement in the United States" By M. Carey.
No full text"Reflections on the subject of Emigration from Europe with a view to Settlement in the United States: containing bried sketches of the moral and political character of those states.
By M. Carey, member of the American philosophical, and of the American Antiquarian Society, and author of The Olive Branch, Cindiciae Hibernicae, essays on banking, on political economy, and on internal improvement.
To which are now added the English editor's comments on the subject; together with Important Advice to Emigrants, and Cautions Against Impositions Practiced in the Outports
Dispelling the Myths Behind First-author Citation Counts
No full textWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
Dr. Glendon Swarthout
No full textHosted by Roger M. Busfield, MSU Assistant Professor of Speech and Theater, Meet the Author is designed to introduce a general audience to a contemporary author and their work through in-depth interviews. This episode features a conversation between Dr. Glendon Swarthout, prolific author and English professor at MSU, and assistant professors Sam S. Baskett and Theodore B. Strandness
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex
No full textA 6-day-old Belgian Blue-Holstein calf was referred because of a syndrome resembling epidermolysis bullosa simplex (EBS). The clinical phenotype included irregular and differently sized erosions and ulcerations spread over the body, in particular on the limbs and over bone prominences, as well as in the nasal planum and oral mucosa. Blisters were easily induced by rubbing the skin. The skin lesions displayed a clear dermal-epidermal separation at the level of the basal cell layer. Post mortem examination revealed erosions in the pharynx, proximal esophagus, and rumen. Whole-genome sequencing revealed a heterozygous disruptive in-frame deletion variant in KRT5 (c.534_536delCAA). Genotyping of both parents confirmed the variant as de novo mutation. Clinicopathological and genetic findings were consistent with the diagnosis of KRT5-related EBS providing the second example of a spontaneous mutation causing epidermolysis bullosa in cattle
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