Search results for "agile"
showing 10 items of 138 documents
What Can We Learn from Theoretical Considerations and Empirical Evidence on Learning in Higher Education? Implications for an Interdisciplinary Resea…
2019
Since the development of the hypertext markup language (HTML), a myriad of data from different sources has become increasingly cross-linked, resulting in entire information landscapes; more than 21 billion electronic devices (Web 4.0) will be in use by 2020. Access to and processing of multimedia content and unverified and algorithmically preselected information are constitutive elements of learning in the Internet Age. As learning occurs in- and outside of formal higher education institutions and cannot be explained by educational or technological factors alone, it is a crucial cross-disciplinary topic, equally important for all areas of science and education. Yet, research on learning in …
Internal Software Startups - A Multiple Case Study on Practices, Methods, and Success Factors
2020
Startups are often seen as drivers of innovation. In an attempt to leverage this potential, larger business organizations have founded internal startups as a subset of internal corporate ventures (ICV). These smaller organizations are intended to be more agile than the parent organization, in order to produce new service and product innovations using their own methods and practices independently of the organizational culture and methods of the parent organization. However, our understanding of ICVs is still lacking in terms of processes and success factors, and especially the more recent internal startups have scarcely been studied thus far. To approach this novel area of research, we take …
EA Planning, Development and Management Process for Agile Enterprise Development
2005
In this study, we suggest an enterprise architecture (EA) development process model suitable for EA projects limited in scope and time. Several EA process models have been put forward, which have in common the idea of comprehensive EA management and development that is generic, cyclic and ongoing in a user organization. The suggested models are of varying level of abstraction. It is not simple to select the right issues from them for a restricted development effort. An ICT services provider needs a process model to follow in EA consulting and development projects. This approach is also needed for incremental EA development by user organizations. Starting with the suggested EA process models…
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
2017
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo …
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abn…
2021
Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…
Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
2019
Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children wit…
Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families
2012
Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), al…
A STEEPLED Analysis of the SPI Manifesto
2019
Software Process Improvement (SPI) has been founded on the belief that a well-defined and executed process is likely to produce a high-quality pro-duct. Improving a product might provide insights for future improvement efforts. However, this bottom-up approach does not necessarily lead to improvement, considering in particular that software products/artefacts are usually, unique. In contrast, an improved process is a top-down approach, which is applicable to all products (outputs and outcomes). The SPI Manifesto places people, business focus, and organisational change at the core of Software Process Improvement practices. In so doing, certain SPI principles guide the behaviour of individual…
NMR study of hexanucleotide d(CCGCGG)2 containing two triplet repeats of fragile X syndrome
2003
Abstract Long repeated stretches of d(CCG) and tri-nucleotide are crucial mutations that cause hereditary forms of mental retardation (fragile X-syndrome). Moreover, the alternating (CG) di-nucleotide is one of the candidates for Z-DNA conformation. Solution NMR structure of d(CCGCGG) 2 has been solved and is discussed. The determined NMR solution structure is a distorted highly bent B-DNA conformation with increased flexibility in both terminal residues. This conformation differs significantly from the Z-DNA tetramer structure reported for the same hexamer in the crystal state at similar ionic strength by Malinina and co-workers. Crystal structure of d(CCGCGG) 2 at high salt concentration …
Ythdf is a N6‐methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila
2021
Abstract N6‐methyladenosine (m6A) regulates a variety of physiological processes through modulation of RNA metabolism. This modification is particularly enriched in the nervous system of several species, and its dysregulation has been associated with neurodevelopmental defects and neural dysfunctions. In Drosophila, loss of m6A alters fly behavior, albeit the underlying molecular mechanism and the role of m6A during nervous system development have remained elusive. Here we find that impairment of the m6A pathway leads to axonal overgrowth and misguidance at larval neuromuscular junctions as well as in the adult mushroom bodies. We identify Ythdf as the main m6A reader in the nervous system,…