3 resultados para Aurelia

em Biblioteca Digital da Produção Intelectual da Universidade de São Paulo


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The study of "jellyfish blooms" provides important data toward determining the causes and consequences of these phenomena; however, the definition of "bloom" remains controversial and different concepts have been adopted in recent works. By addressing the biological and convenience definitions, this study tested the adequacy of the different concepts of "blooms" for the Class Staurozoa (Cnidaria). From seasonal monitoring data of some species of Staurozoa, we concluded that stauromedusae bloom if we used the biological concept of "bloom", which considers the life cycle and resulting changes in the abundances of these animals. By contrast, the small, benthic, inconspicuous, and non-harmful stauromedusae do not bloom if we use the convenience concept of "bloom", which constrains the events to those that humans can observe and that cause damage to human activities. In other words, the same group of organisms either is or is not capable of blooming depending on which concept of "bloom" is used. In fact, previous literature has suggested that Staurozoa could not bloom, which indicates that the study of "jellyfish blooms" can be biased, considering convenience rather than biological reasoning.

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Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33: 949-959, 2012. (C) 2012 Wiley Periodicals, Inc.