scholarly journals Mosaicism and the taxonomy of human disease

2021 ◽  
Vol 7 (6) ◽  
pp. a006163
Author(s):  
Leslie G. Biesecker

Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum centers on thresholds for the definition of mosaic disorders and how to reconcile the incredible inter- and intrapatient variability of mosaic disorders with the clinical imperative to have clear and distinct categorical diagnoses.

2021 ◽  
Vol 7 (6) ◽  
pp. a006162
Author(s):  
Heather C. Mefford

Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al. (Cold Spring Harb Mol Case Studies7: a006125 [2021]) is discussed.


2013 ◽  
Vol 42 (4) ◽  
pp. 3-9
Author(s):  
Armin Geertz

This introduction to the special issue on narrative discusses various ways of approaching religious narrative. It looks at various evolutionary hypotheses and distinguishes between three fundamental aspects of narrative: 1. the neurobiological, psychological, social and cultural mechanisms and processes, 2. the many media and methods used in human communication, and 3. the variety of expressive genres. The introduction ends with a definition of narrative.


Author(s):  
Ross McKibbin

This book is an examination of Britain as a democratic society; what it means to describe it as such; and how we can attempt such an examination. The book does this via a number of ‘case-studies’ which approach the subject in different ways: J.M. Keynes and his analysis of British social structures; the political career of Harold Nicolson and his understanding of democratic politics; the novels of A.J. Cronin, especially The Citadel, and what they tell us about the definition of democracy in the interwar years. The book also investigates the evolution of the British party political system until the present day and attempts to suggest why it has become so apparently unstable. There are also two chapters on sport as representative of the British social system as a whole as well as the ways in which the British influenced the sporting systems of other countries. The book has a marked comparative theme, including one chapter which compares British and Australian political cultures and which shows British democracy in a somewhat different light from the one usually shone on it. The concluding chapter brings together the overall argument.


Author(s):  
Claude Markovits

This chapter deals with the question of innovation in Indian business from a historical perspective. After a brief survey of the literature, emphasizing how divided scholarly opinion was regarding the existence of forms of innovation in Indian business prior to the colonial era, the focus shifts to the British period. It is shown that Schumpeter’s definition of innovation equating it with technological innovation cannot be fruitfully applied to the Indian business scene. Two case studies are then proposed: Tata Iron & Steel, the largest Indian industrial firm, is shown to have been innovative in the specific context of India’s backward industrial scene, while the Sindwork merchants of Hyderabad are an instance of an Indian trading network which extended its range to the entire world. Concluding remarks interrogate post-Independence developments and stress the limits of the innovativeness of Indian business, prior to the recent liberal reforms.


Author(s):  
Nicholas J. Wheeler

This Introduction to the book does three things. First, it introduces the concept of trust and develops a definition of trust as the ‘expectation of no harm in contexts where betrayal is always a possibility’. Next, it identities two conceptions of trust that guide the book, ‘calculative trust’ and ‘trust as suspension’, which provide very different explanations for how actors form expectations that another will be trustworthy. It then shows how trust as suspension opens up a new theory of accurate signal interpretation and demonstrates how this theory is superior to costly signalling-based theories of accurate signal interpretation. The final section of the Introduction sets out the rationale for the case studies and the key assumptions.


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