scholarly journals Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function

2021 ◽  
Vol 11 (5) ◽  
pp. 438
Author(s):  
William J. Duddy ◽  
Stephanie Duguez

The field of neuromuscular research has seen considerable recent advances in the molecular and cellular understanding of muscle biology, and the treatment of neuromuscular disease [...]

2020 ◽  
Vol 21 (12) ◽  
pp. 4541 ◽  
Author(s):  
Erica Gianazza ◽  
Maura Brioschi ◽  
Roberta Baetta ◽  
Alice Mallia ◽  
Cristina Banfi ◽  
...  

Platelets are a heterogeneous small anucleate blood cell population with a central role both in physiological haemostasis and in pathological states, spanning from thrombosis to inflammation, and cancer. Recent advances in proteomic studies provided additional important information concerning the platelet biology and the response of platelets to several pathophysiological pathways. Platelets circulate systemically and can be easily isolated from human samples, making proteomic application very interesting for characterizing the complexity of platelet functions in health and disease as well as for identifying and quantifying potential platelet proteins as biomarkers and novel antiplatelet therapeutic targets. To date, the highly dynamic protein content of platelets has been studied in resting and activated platelets, and several subproteomes have been characterized including platelet-derived microparticles, platelet granules, platelet releasates, platelet membrane proteins, and specific platelet post-translational modifications. In this review, a critical overview is provided on principal platelet proteomic studies focused on platelet biology from signaling to granules content, platelet proteome changes in several diseases, and the impact of drugs on platelet functions. Moreover, recent advances in quantitative platelet proteomics are discussed, emphasizing the importance of targeted quantification methods for more precise, robust and accurate quantification of selected proteins, which might be used as biomarkers for disease diagnosis, prognosis and therapy, and their strong clinical impact in the near future.


F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 460 ◽  
Author(s):  
Gregor Reid

Sixteen years ago, when we published the first molecular characterization of the vaginal microbiota, little did we know the vast numbers of species that would be detected in this niche. As exciting as these discoveries have been, what have they and more recent advances contributed to how vaginal health and disease are managed? This review provides a brief discussion of the potential, but so far limited, applications that have arisen from microbiome research. Calls for innovation have been made before but to little avail.


2012 ◽  
Vol 117 (6) ◽  
pp. 983-996 ◽  
Author(s):  
Paul C. McCormick

The theme of the 80th Annual Meeting of the American Association of Neurological Surgeons and the title of this presidential address, “We are neurosurgery,” is a simple 3-word affirmation of who neurosurgeons are, what they have achieved, and how much there is yet to accomplish. Recent advances in neurobiology and the clinical neurosciences have brought an unprecedented understanding of the human nervous system in both health and disease. As a specialty, neurosurgery has translated knowledge, expanded techniques, and incorporated technology to exponentially expand the science and scope of neurosurgical practice. However, the rapidly advancing, divergently evolving growth of neurosurgery has had profound effects on all aspects of neurosurgery. In this address, the author examines the contemporary meaning of the annual meeting's theme as it relates to the science, practice, specialty, and profession of neurosurgery, as well as the neurosurgeon. In doing so, the author reveals his interpretation of “We are neurosurgery,” which he hopes will have an effect on others.


2020 ◽  
Vol 52 ◽  
pp. 47-51 ◽  
Author(s):  
Willem T Peppler ◽  
Logan K Townsend ◽  
David C Wright

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 398 ◽  
Author(s):  
Yann Ehinger ◽  
Valerie Matagne ◽  
Laurent Villard ◽  
Jean-Christophe Roux

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to correct symptoms to more innovative approaches intended to cure the pathology.


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