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101.
Girolamo A. Vitello Francesco Calì Mirella Vinci Carmela Scuderi Francesca LEpiscopo Antonino Musumeci Sebastiano A. Musumeci Antonio G. Nicotera 《Journal of musculoskeletal & neuronal interactions》2020,20(4):610
Spinal muscular atrophy (SMA) refers to a group of genetic neuromuscular disorders affecting lower motor neurons causative of numerous phenotypes. To date, according to the age of onset, maximum muscular activity achieved, and life expectation four types of SMA are recognized, all caused by mutations in the SMN1 gene with SMN2 copy number influencing disease severity. Herein, we describe the case of a 31-year-old young male with normal psychomotor development who has experienced fatigue, cramps, and muscle fasciculations in the lower limbs for a period of 2 months. Based on electrophysiological and clinical findings we performed SMA genetic, clinical exome and RNA expression of candidate genes which led us to suggest SMN1-SMN2 genes [(2+0) and (0+0)] combination as possibly being implicated in the phenotype. 相似文献
102.
Rossana Saracino Chiara Capponi Sara Di Persio Carla Boitani Silvia Masciarelli Francesco Fazi Stefania Fera Elena Vicini 《Molecular reproduction and development》2020,87(4):419-429
Glial cell line‐derived neurotrophic factor (GDNF) and retinoic acid (RA) are two molecules crucial for the regulation of the spermatogonial compartment of the testis. During the cycle of the seminiferous epithelium, their relative concentration oscillates with lower GDNF levels in stages where RA levels are high. It has been recently shown that RA negatively regulates Gdnf expression but the mechanisms behind are so far unknown. Here, we show that RA directly downregulates Gdnf mRNA levels in primary murine Sertoli cells through binding of RARα to a novel DR5‐RARE on Gdnf promoter. Pharmacological inhibition and chromatin immunoprecipitation–quantitative polymerase chain reaction analysis suggested that the underlying mechanism involved histone deacetylase activity and epigenetic repression of Gdnf promoter upon RA treatment. 相似文献
103.
Pamela McElwee Katherine Calvin Donovan Campbell Francesco Cherubini Giacomo Grassi Vladimir Korotkov Anh Le Hoang Shuaib Lwasa Johnson Nkem Ephraim Nkonya Nobuko Saigusa Jean‐Francois Soussana Miguel Angel Taboada Frances Manning Dorothy Nampanzira Pete Smith 《Global Change Biology》2020,26(9):4691-4721
Interlocked challenges of climate change, biodiversity loss, and land degradation require transformative interventions in the land management and food production sectors to reduce carbon emissions, strengthen adaptive capacity, and increase food security. However, deciding which interventions to pursue and understanding their relative co‐benefits with and trade‐offs against different social and environmental goals have been difficult without comparisons across a range of possible actions. This study examined 40 different options, implemented through land management, value chains, or risk management, for their relative impacts across 18 Nature's Contributions to People (NCPs) and the 17 Sustainable Development Goals (SDGs). We find that a relatively small number of interventions show positive synergies with both SDGs and NCPs with no significant adverse trade‐offs; these include improved cropland management, improved grazing land management, improved livestock management, agroforestry, integrated water management, increased soil organic carbon content, reduced soil erosion, salinization, and compaction, fire management, reduced landslides and hazards, reduced pollution, reduced post‐harvest losses, improved energy use in food systems, and disaster risk management. Several interventions show potentially significant negative impacts on both SDGs and NCPs; these include bioenergy and bioenergy with carbon capture and storage, afforestation, and some risk sharing measures, like commercial crop insurance. Our results demonstrate that a better understanding of co‐benefits and trade‐offs of different policy approaches can help decision‐makers choose the more effective, or at the very minimum, more benign interventions for implementation. 相似文献
104.
Tom van der Valk Francesco Vezzi Mattias Ormestad Love Daln Katerina Guschanski 《Molecular ecology resources》2020,20(5):1171-1181
The high‐throughput capacities of the Illumina sequencing platforms and the possibility to label samples individually have encouraged wide use of sample multiplexing. However, this practice results in read misassignment (usually <1%) across samples sequenced on the same lane. Alarmingly high rates of read misassignment of up to 10% were reported for lllumina sequencing machines with exclusion amplification chemistry. This may make use of these platforms prohibitive, particularly in studies that rely on low‐quantity and low‐quality samples, such as historical and archaeological specimens. Here, we use barcodes, short sequences that are ligated to both ends of the DNA insert, to directly quantify the rate of index hopping in 100‐year old museum‐preserved gorilla (Gorilla beringei) samples. Correcting for multiple sources of noise, we identify on average 0.470% of reads containing a hopped index. We show that sample‐specific quantity of misassigned reads depends on the number of reads that any given sample contributes to the total sequencing pool, so that samples with few sequenced reads receive the greatest proportion of misassigned reads. This particularly affects ancient DNA samples, as these frequently differ in their DNA quantity and endogenous content. Through simulations we show that even low rates of index hopping, as reported here, can lead to biases in ancient DNA studies when multiplexing samples with vastly different quantities of endogenous material. 相似文献
105.
Francesco Rovero Jorge Ahumada Patrick A. Jansen Douglas Sheil Patricia Alvarez Kelly Boekee Santiago Espinosa Marcela Guimarães Moreira Lima Emanuel H. Martin Timothy G. O'Brien Julia Salvador Fernanda Santos Melissa Rosa Alexander Zvoleff Chris Sutherland Simone Tenan 《Ecography》2020,43(1):75-84
The understanding of global diversity patterns has benefitted from a focus on functional traits and how they relate to variation in environmental conditions among assemblages. Distant communities in similar environments often share characteristics, and for tropical forest mammals, this functional trait convergence has been demonstrated at coarse scales (110–200 km resolution), but less is known about how these patterns manifest at fine scales, where local processes (e.g. habitat features and anthropogenic activities) and biotic interactions occur. Here, we used standardized camera trapping data and a novel analytical method that accounts for imperfect detection to assess how the functional composition of terrestrial mammal communities for two traits – trophic guild and body mass – varies across 16 protected areas in tropical forests and three continents, in relation to the extent of protected habitat and anthropogenic pressures. We found that despite their taxonomic differences, communities generally have a consistent trophic guild composition, and respond similarly to these factors. Insectivores were found to be sensitive to the size of protected habitat and surrounding human population density. Body mass distribution varied little among communities both in terms of central tendency and spread, and interestingly, community average body mass declined with proximity to human settlements. Results indicate predicted trait convergence among assemblages at the coarse scale reflects consistent functional composition among communities at the local scale, suggesting that broadly similar habitats and selective pressures shaped communities with similar trophic strategies and responses to drivers of change. These similarities provide a foundation for assessing assemblages under anthropogenic threats and sharing conservation measures. 相似文献
106.
Rosangela Catoni Francesco Bracco Mirko U. Granata 《Physiology and Molecular Biology of Plants》2020,26(2):261-270
Mesophyll conductance (gm) has received over time much less attention than stomatal conductance (gs), although it affects leaf photosynthesis to about the same extent as stomatal conductance does. The objective of this study was to analyze the gm trend in five understory herbaceous species growing in a close-canopy forest in the north-west of Italy. In particular, three of analyzed species were monocots: Carex brizoides Lam., Carex pilosa Scop., and Oplismenus undulatifolius P. Beauv and the others dicots species: Circaea lutetiana L., and Pulmonaria officinalis Ced. The results showed, on one hand, the absence of correlation between gm and the considered environmental variables in the forest understory (i.e. air temperature, photosynthetic photon flux density and carbon dioxide concentration). Moreover, we carried out a principal component analysis considering all the analyzed morphological and physiological variables for the five species. The following correlation between the first component, related to the leaf mass per unit of leaf area and the leaf tissue density, and gm seem to suggest a key role of the leaf structural features in determining gm variations across the five species. 相似文献
107.
Transgenic Research - The lack of naturally occurring resistance to citrus psorosis virus (CPsV) necessitates a transgenic approach for the development of CPsV-resistant citrus. To evaluate the... 相似文献
108.
Annabelle Grimm Vaidurya P. Sahi Manuel Amann Francesco Vidotto Silvia Fogliatto Katrien M. Devos Aldo Ferrero Peter Nick 《Ecology and evolution》2020,10(15):8449-8464
Weedy rice is a representative of the extensive group of feral weeds that derive from crops, but has returned to the lifestyle of a wild species. These weeds develop either from a hybridization of crops with wild relatives (exoferality), or by mutation of crops to weedy forms (endoferality). Due to the close relation of weed and crop, the methods for weed‐targeted containment are limited to date. A deeper understanding of the development of such weeds might help to design more efficient and sustainable approaches for weed management. Weedy rice poses a serious threat to rice yields worldwide. It is widely accepted that weedy rice has originated independently in different regions all over the world. However, details of its evolution have remained elusive. In the current study, we investigated the history of weedy rice in northern Italy, the most important rice‐growing area in Europe. Our approach was to analyze genes related to weedy traits (SD1, sh4, Rc) in weedy rice accessions compared to cultivars, and to integrate these results with phenotypic and physiological data, as well as historical information about rice farming in Italy. We arrive at a working model for the timeline of evolution of weedy rice in Italy indicating that both exoferality and endoferality acted as forces driving the development of the diverse weedy rice populations found in the region today. Models of weed evolution can help to predict the direction which weed development might take and to develop new, sustainable methods to control feral weeds. 相似文献
109.
110.
Berti Francesco Romano Maria Rosaria Micoli Francesca Adamo Roberto 《Glycoconjugate journal》2021,38(4):401-409
Glycoconjugate Journal - Neisseria meningitidis is a major cause of bacterial meningitidis worldwide. Children less than five years and adolescents are particularly affected. Nearly all invasive... 相似文献