Osteoblastoma is a locally aggressive tumour of bone. Until recently, its underlying genetic features were largely unknown. During the past two years, reports have demonstrated that acquired... Show moreOsteoblastoma is a locally aggressive tumour of bone. Until recently, its underlying genetic features were largely unknown. During the past two years, reports have demonstrated that acquired structural variations affect the transcription factorFOSin a high proportion of cases. These rearrangements modify the terminal exon of the gene and are believed to stabilise both theFOStranscript and the encoded protein, resulting in high expression levels. Here, we applied in-depth genetic analyses to a series of 29 osteoblastomas, including five classified as epithelioid osteoblastoma. We found recurrent homozygous deletions of theNF2gene in three of the five epithelioid cases and in one conventional osteoblastoma. These events were mutually exclusive fromFOSmutations. Structural variations were determined by deep whole genome sequencing and the number ofFOS-rearranged cases was less than previously reported (10/23, 43%). One conventional osteoblastoma displayed a novel mechanism of FOS upregulation; bringing the entireFOSgene under the control of theWNT5Aenhancer that is itself activated by FOS. Taken together, we show thatNF2loss characterises a subgroup of osteoblastomas, distinct fromFOS-rearranged cases. BothNF2andFOSare involved in regulating bone homeostasis, thereby providing a mechanistic link to the excessive bone growth of osteoblastoma. Show less
Kovac, M.; Phillips, A.; Weel, A.H. van der; Wischenbart, R. 2019
The aim of this paper is to reach a level of conceptual clarity about what we call a book. The motivation for this exercise lies in the desire to chart the trajectory of the book as a cultural... Show moreThe aim of this paper is to reach a level of conceptual clarity about what we call a book. The motivation for this exercise lies in the desire to chart the trajectory of the book as a cultural phenomenon in light of the gradual move to shorter tex- tual expression that is taking place alongside the delivery of stories in other forms besides text. For this purpose the article takes a historical perspective without, how- ever, attempting to chart all the phases in the development of the book. Concurrently with the move to shorter textual expression, in the digital reading environment the basic elements of the 1964 UNESCO definition of the book (printed, a minimum number of pages) have had to be left behind. Alongside the arrival of new publish- ing business models, the entire notion of the book is in jeopardy. This set of devel- opments calls for a fundamental reconsideration of how we define a book in relation to other book-like objects and text forms. The approach taken is iterative, moving closer towards a definition of the book whilst acknowledging the arrival of offspring such as the ebook and audiobook. Show less
Digital technologies offer tremendous opportunities with respect to information access, storage and transmission, and digital reading environments offer ways to present information that are... Show moreDigital technologies offer tremendous opportunities with respect to information access, storage and transmission, and digital reading environments offer ways to present information that are difficult or impossible to attain in text on paper. This is significantly changing the ways we read. Digital materials can be adapted to each individual’s skill level, enabling flexible learning processes to accommodate the particular needs and developments of each reader. At the same time, empirical research indicates that the affordances of screens may also foster less advantageous reading developments, habits and mind sets.This warrants balancing the discourse on possibilities and advantages of digital technologies. To this purpose ‘Evolution of Reading in the Age of Digitisation’ (E-READ) — a research initiative funded by COST (European Cooperation in Science & Technology) as Action IS1404 — has brought together almost 200 scholars and scientists of reading, publishing, and literacy from across Europe. Starting from the assumption that the introduction of digital technologies for reading are not neutral regarding cognition and comprehension, the members of the network joined in an effort to research how readers, and particularly children and young adults, comprehend or remember written text when using print versus digital materials.The articles in this special issue have been written by members of the EW-READ network to discuss indepth way a number of findings, hypotheses and recommendations that came out of their research about print versus screen reading. Show less
This paper analyses major social shifts in reading by comparing publishing statistics with results of empirical research on reading. As media statistics suggest, the last five decades have seen two... Show moreThis paper analyses major social shifts in reading by comparing publishing statistics with results of empirical research on reading. As media statistics suggest, the last five decades have seen two shifts: from textual to visual media, and with the advent of digital screens also from long-form to short-form texts. This was accompanied by new media-adequate reading modes: while long-form content invokes immersed and/or deep reading, we predominantly skim online social media. Empirical research on reading indicates that the reading substrate plays an important role in reading processes. For example, comprehension suffers when complex texts are read from screens. This paper argues that media and reading trends in recent decades indicate broader social and cultural changes in which long-form deep reading traditionally associated with the printed book will be marginalised by prevailing media trends and the reading modes they inspire. As these trends persist, it may be necessary to find new approaches to vocabulary and knowledge building. Show less
This paper describes the usefulness of reliable book sta- tistics for publishers, booksellers, educators, and policy- makers and outlines the main reasons why there are few such statistics. In its... Show moreThis paper describes the usefulness of reliable book sta- tistics for publishers, booksellers, educators, and policy- makers and outlines the main reasons why there are few such statistics. In its second part, the paper proposes in- dicators that would measure the role of books and book industries both in contemporary societies and in recent history, and argues for a wider debate around book statis- tics and the role of books and reading in society. Show less
