scholarly journals Editorial for Special Issue “Genetic Basis and Epidemiology of Myopathies”

2021 ◽  
Vol 22 (4) ◽  
pp. 2152
Author(s):  
Eleni Peristeri ◽  
Efthimios Dardiotis
Keyword(s):  
Genetic Basis ◽  
Genetic Factors ◽  
Special Issue ◽  
Relevant Research ◽  
Future Studies

We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology of myopathies. The Guest Editors’ note combines the contributing authors’ reviews and findings of relevant research, and we hope that future studies on myopathies will attempt to confirm these findings and, additionally, evaluate supplementary phenotypic and histological expressions of myopathies, as well as genetic factors in their pathogenesis.

scholarly journals Special Issue: Genetic Basis of Phenotypic Variation in Drosophila and Other Insects

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1212
Author(s):  
J. Spencer Johnston ◽  
Carl E. Hjelmen
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Basis ◽  
Genomic Sequence ◽  
Sequence Data ◽  
Complete Genomic Sequence ◽  
Special Issue ◽  
Model Species ◽  
Road Map ◽  
Generation Sequencing ◽  
Complete Genomic

Next-generation sequencing provides a nearly complete genomic sequence for model and non-model species alike; however, this wealth of sequence data includes no road map [...]

scholarly journals Mitochondrial Syndromes Revisited

2021 ◽  
Vol 10 (6) ◽  
pp. 1249
Author(s):  
Daniele Orsucci ◽  
Elena Caldarazzo Ienco ◽  
Andrea Rossi ◽  
Gabriele Siciliano ◽  
Michelangelo Mancuso
Keyword(s):  
Clinical Trials ◽  
Genetic Basis ◽  
Phenotypic Variability ◽  
Mitochondrial Diseases ◽  
Genetic Alterations ◽  
Mitochondrial Disorders ◽  
Single Mutation ◽  
Multicenter Studies ◽  
Future Studies ◽  
Clinical Syndromes

In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make mitochondrial disorders a complex group of disorders. Although specific genetic alterations have been associated with some syndromic presentations, the genotype–phenotype relationship in mitochondrial disorders is complex (a single mutation can cause several clinical syndromes, while different genetic alterations can cause similar phenotypes). This review will revisit the most common syndromic pictures of mitochondrial disorders, from a clinical rather than a molecular perspective. We believe that the new phenotype definitions implemented by recent large multicenter studies, and revised here, may contribute to a more homogeneous patient categorization, which will be useful in future studies on natural history and clinical trials.

scholarly journals A novel method to quantify gene set functional association based on gene ontology

2011 ◽  
Vol 9 (70) ◽  
pp. 1063-1072 ◽  
Author(s):  
Sali Lv ◽  
Yan Li ◽  
Qianghu Wang ◽  
Shangwei Ning ◽  
Teng Huang ◽  
...  
Keyword(s):  
Gene Ontology ◽  
Genetic Basis ◽  
Protein Complexes ◽  
Sequence Similarity ◽  
Functional Association ◽  
Future Studies ◽  
Gene Set ◽  
Complex Disorders ◽  
Gene Sets ◽  
Novel Method

Numerous gene sets have been used as molecular signatures for exploring the genetic basis of complex disorders. These gene sets are distinct but related to each other in many cases; therefore, efforts have been made to compare gene sets for studies such as those evaluating the reproducibility of different experiments. Comparison in terms of biological function has been demonstrated to be helpful to biologists. We improved the measurement of semantic similarity to quantify the functional association between gene sets in the context of gene ontology and developed a web toolkit named Gene Set Functional Similarity (GSFS; http://bioinfo.hrbmu.edu.cn/GSFS ). Validation based on protein complexes for which the functional associations are known demonstrated that the GSFS scores tend to be correlated with sequence similarity scores and that complexes with high GSFS scores tend to be involved in the same functional catalogue. Compared with the pairwise method and the annotation method, the GSFS shows better discrimination and more accurately reflects the known functional catalogues shared between complexes. Case studies comparing differentially expressed genes of prostate tumour samples from different microarray platforms and identifying coronary heart disease susceptibility pathways revealed that the method could contribute to future studies exploring the molecular basis of complex disorders.

Career Education: Concluding Remarks

2019 ◽  
Vol 46 (6) ◽  
pp. 665-669
Author(s):  
Rachel Gali Cinamon ◽  
Hanoch Flum ◽  
Erin E. Hardin
Keyword(s):  
Career Education ◽  
Special Issue ◽  
Future Studies ◽  
Rapid Changes ◽  
The World ◽  
Current Special Issue ◽  
Education Work

The interventions presented in the current special issue have the potential to decrease social and economic gaps. At the same time, several important aspects that are central to the rapid changes in education and in the world of work were not included or given minimal attention in these interventions. In this concluding article, we reflect upon these issues in the hope that future studies and career education work will focus and elaborate upon theme.

scholarly journals From the Origins of Pharmacogenetics to First Applications in Psychiatry

2019 ◽  
Vol 53 (04) ◽  
pp. 155-161 ◽  
Author(s):  
Daniel J. Müller ◽  
Zoe Rizhanovsky
Keyword(s):  
Side Effects ◽  
Clinical Outcome ◽  
Conceptual Framework ◽  
Drug Targets ◽  
Genetic Factors ◽  
Psychiatric Treatment ◽  
Clinical Pharmacologist ◽  
Genetic Traits ◽  
Future Studies ◽  
Practical Implications

AbstractPharmacogenetics is the division of science addressing how genetic factors contribute to the metabolism, response, and side effects of a given medication. What was once regarded as a subdivision of genetics and pharmacology is now recognized as its own field and has its own unique story of origin. While the term “pharmacogenetics” was coined by Friedrich Vogel in 1959, the relevance of inherited genetic traits in affecting the clinical outcome to xenobiotics has been observed long before. In fact, there is much hope that pharmacogenetics can help unravel the “mysteries” as to why different people may display variable responses to the same medication as well as identify new drug targets. This article will highlight the conceptual framework for pharmacogenetics advanced by pioneer scientists Arno Motulsky and Friedrich Vogel (both human geneticists), as well as Werner Kalow (clinical pharmacologist), leading up to the creation of modern pharmacogenetics. Finally, the practical implications and first steps toward implementation for current psychiatric treatment are reviewed followed by an outlook on future studies.

Molecular genetic pathways in Parkinson's disease: a review

2005 ◽  
Vol 109 (4) ◽  
pp. 355-364 ◽  
Author(s):  
Shushant Jain ◽  
Nicholas W. Wood ◽  
Daniel G. Healy
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Basis ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Mendelian Genetics ◽  
Susceptibility Factors ◽  
Increased Risk ◽  
Major Progress ◽  
Made In

Major progress has been made in the last decade in understanding the genetic basis of PD (Parkinson's disease) with five genes unequivocally associated with disease. As a result, multiple pathways have been implicated in the pathogenesis of PD, including proteasome impairment and mitochondrial dysfunction. Although Mendelian genetics has been successful in establishing a genetic predisposition for familial PD, this has not been reiterated in the sporadic form. In fact no genetic factors have been unequivocally associated with increased risk for sporadic PD. The difficulty in identifying susceptibility factors in PD has not only been because of numerous underpowered studies, but we have been unable to dissect out the genetic component in a multifactorial disease. This review aims to summarize the genetic findings within PD.

Toward Strategic Cohesion: A Reply to King’s Criticism of the Call for a Broader View of Cohesion

2020 ◽  
pp. 0095327X2097476
Author(s):  
Ilmari Käihkö
Keyword(s):  
Armed Forces ◽  
Vantage Point ◽  
Special Issue ◽  
Future Studies ◽  
Combat Soldier

In October 2018, Armed Forces & Society published a special issue that called for a theoretical and methodological broadening of the study of cohesion. In a response, King accuses me of ignoring his 2013 book The Combat Soldier, which he feels had already made this call redundant. This answer explains why this is not the case. The Combat Soldier ticks the three boxes of modern, Western, and state military that have dominated the study of cohesion. The resulting narrow vantage point affirms problematic assumptions of Western concepts as absolutes with universal validity with little room for other models of sociopolitical interaction. This becomes especially problematic when King defines cohesion as tactical-level combat performance, the be-all and end-all of what makes, and decides, war. The answer concludes with an appeal for truly interdisciplinary future studies of war that a broader understanding of cohesion, among other things, depends on.

The future of sociology of FLOSS

First Monday ◽  
2005 ◽  
Author(s):  
Yuwei Lin
Keyword(s):  
Open Source ◽  
Open Source Software ◽  
Social World ◽  
Point Of View ◽  
Sociological Perspective ◽  
Special Issue ◽  
Paper Briefly ◽  
Research Topics ◽  
Future Studies ◽  
Cooperative Community

The following commentary is part of First Monday's Special Issue #2: Open Source. This paper briefly summarises the current research on the free/libre open source software (FLOSS) communities and discusses the deficiency of a body of FLOSS research done from the sociological perspective. Since Eric Raymond's famous 'Cathedral and Bazaar' that depicts a harmoniously cooperative community/bazaar that engages 'hackers' to develop and advocate FLOSS, many other successors have adopted a similar utopian-like perspective to understand the FLOSS development and organisation processes within and across communities. However, I argue that such a view, partially valid in explaining the FLOSS development, not only ignores the diversity of population and their different articulations, interpretation on and performances towards developing FLOSS, but also neglects the different environments and contexts where FLOSS is deployed, developed and implemented. A sociological point of view is vital in that it helps understand the dynamics emerging from the heterogeneity of the FLOSS social world and allows us to see different roles played by diverse actors and various environments and contexts where FLOSS evolves differently. This paper concludes with a list of suggested research topics for future studies.

The End of the Cold War as a Hard Case for Ideas

2005 ◽  
Vol 7 (2) ◽  
pp. 165-173 ◽  
Author(s):  
William C. Wohlforth
Keyword(s):  
Cold War ◽  
International Relations ◽  
Special Issue ◽  
Hard Case ◽  
Future Studies ◽  
The Core ◽  
The Cold War

The articles in this special issue of the journal succeeded in meeting the core objective set out in the introduction: to refine, deepen, and extend previous studies of the role of ideas in the end of the Cold War. In particular, they confront more forthrightly than past studies a major challenge of studying ideas in this case; namely, that ideas, material incentives, and policy all covaried. Two other important problems for those seeking to establish an independent role for ideas remain to be addressed in future studies. Facing those problems as squarely as the contributors to this issue have faced the covariation problem will yield major benefits for the study of ideas in this case and in international relations more generally.

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