11 research outputs found
Enhancing graduate attributes : mechanisms for facilitating the transfer of academically-acquired generic skills into the workplace
This paper explores the ways Arts students may be assisted in acquiring an explicit rather than a tacit understanding of their full range of graduate attributes. With this understanding, the students may be better able to represent themselves when seeking graduate employment and be more proficient at transferring their academically-acquired skills into the workplace
A comparison of methods for gene dosage analysis in HMSN type 1
A number of different approaches are used in diagnostic laboratories to detect the 1.5 Mb duplication at 17p11.2 seen in approximately 70% of patients with hereditary motor and sensory neuropathy type 1 (HMSN1). Here we compare the methods used in UK diagnostic laboratories to detect the duplication. Samples referred to participating centres for HMSN testing were collected, randomised, and distributed for testing. One hundred samples were examined using five different methods; each method was tested by two independent laboratories. Identical results were obtained from all laboratories for 44 samples. The remaining samples were classified as duplication positive or duplication negative on the basis of the same result by two or more methods. A total of 95 samples were classified by more than one method, two were withdrawn from the study as the same result was not obtained by two methods, and three are thought to have a duplication smaller than 1.5 Mb. Seven of 49 duplications were not detected by methods used to detect the common junction fragment and the use of microsatellites failed to yield a result in four of 95 samples. Sequence tagged site (STS) dosage analysis was found to be the most sensitive of the methods tested, although this method was found to be the most likely to require repeat analysis. Eight samples gave discordant results between the two laboratories testing by the same method. Upon retesting, reasons for the initial incorrect result included processing and typographical errors.
Keywords: HMSN; methods; duplication; gene dosag
Histories and institutional change: understanding academic development practices in the global ‘north’ and ‘south’
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From noted ‘phenomenon’ to ‘missing person’: A case of the historical construction of the unter-journalist
Tim Hewat was celebrated during his tenure at Granada Television as one of the most influential journalists working in Britain in the second half of the 20th century, but then largely forgotten for 30 years.This is explained as a function of the specific historicization of journalists, reflecting both academic prejudices and occupational values. The history of journalism is largely devoid of the lived experiences of the majority of its practitioners. Hewat’s case indicates that journalists disappear from history when they step outside the domains of valorized media institutions and journalism hierarchies that contribute to notions such as the Fourth Estate. Mobilizing Paul Thompson’s category of ‘underclasses’, this article argues that this reductionism has largely rendered the majority of journalists historically invisible and classified them as unter-journalists , a kind of sub-category which does not comply with a priori norms. © The Author(s) 2010
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), a B cell– specific tumor necrosis factor (TNF) receptor superfamily member. Both biallelic and monoallelic TNFRSF13B mutations were identified in patients with common variable immunodeficiency disorders. The genetic complexity and variable clinical presentation of TACI deficiency prompted us to evaluate the genetic, immunologic, and clinical condition in 50 individuals with TNFRSF13B alterations, following screening of 564 unrelated patients with hypogammaglobulinemia. We identified 13 new sequence variants. The most frequent TNFRSF13B variants (C104R and A181E; n = 39; 6.9%) were also present in a heterozygous state in 2% of 675 controls. All patients with biallelic mutations had hypogammaglobulinemia and nearly all showed impaired binding to a proliferation-inducing ligand (APRIL). However, the majority (n = 41; 82%) of the pa-tients carried monoallelic changes in TNFRSF13B. Presence of a heterozygous mutation was associated with antibody deficiency (P <.001, relative risk 3.6). Heterozygosity for the most common mutation, C104R, was associated with disease (P < .001, relative risk 4.2). Furthermore, heterozygosity for C104R was associated with low numbers of IgD−CD27+ B cells (P = .019), benign lymphoproliferation (P < .001), and autoimmune complications (P = .001). These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation