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151.
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance 总被引:4,自引:0,他引:4
152.
Olfactory sensory stimulation induces a fast-phase arrest response (FPA-R) of the blowfly heart activity that has been described as a sensitive tool for testing insect reactivity to odor perception. We analyzed FPA-R occurrence to repeated olfactory stimulation with low and high 1-hexanol concentrations that are behaviorally attractant and repellent, respectively, in the blowfly. FPA-R occurrence diminished and ceased with repeated presentations of low and medium odor concentrations, according to dynamics inversely related to odor doses. On the other hand, repeated stimulation with higher odor concentrations induced persistent FPA-Rs. Sensory input amplitude to repeated presentations of singly tested odor concentrations did not change throughout stimulation sessions. A spontaneous restoration of FPA-R to olfactory stimulation was recorded 30 min after cessation of FPA-R to a previous olfactory stimulation session. However, a prompt restoration of FPA-R to olfactory stimulation after cessation of FPA-R was obtained following mechano-taste stimulation of labellar sensilla. Our findings show that the FPA-R habituates to olfactory sensory stimulation with low and medium odor concentrations according to dynamics inversely related to odor intensities. On the other hand, the FPA-R does not habituate to higher odor concentrations. Therefore, flies learn to disregard nonaversive odor information, but they cannot ignore iterative detection of a repellent volatile. 相似文献
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155.
Bice Avallone Claudio Agnisola Raimondo Cerciello Raffaele Panzuto Palma Simoniello Patrizia Cretì Chiara Maria Motta 《Cell biology and toxicology》2015,31(6):273-283
This report describes the alterations induced by an environmentally realistic concentration of cadmium in skeletal muscle fibre organization, composition, and function in the teleost zebrafish. Results demonstrate that the ion induces a significant quantitative and qualitative deterioration, disrupting sarcomeric pattern and altering glycoprotein composition. These events, together with a mitochondrial damage, result in a significant reduction in swimming performance. In conclusion, the evidence here collected indicate that in presence of an environmental cadmium contamination, important economic (yields in fisheries/aquaculture), consumer health (fish is an important source of proteins), and ecological (reduced fitness due to reduced swimming performance) consequences can be expected. 相似文献
156.
Emanuela Dazzo Manuela Fanciulli Elena Serioli Giovanni Minervini Patrizia Pulitano Simona Binelli Carlo Di Bonaventura Concetta Luisi Elena Pasini Salvatore Striano Pasquale Striano Giangennaro Coppola Angela Chiavegato Slobodanka Radovic Alessandro Spadotto Sergio Uzzau Angela La Neve Anna Teresa Giallonardo Oriano Mecarelli Silvio C.E. Tosatto Ruth Ottman Roberto Michelucci Carlo Nobile 《American journal of human genetics》2015,96(6):992-1000
Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic epilepsy syndrome clinically characterized by focal seizures with prominent auditory symptoms. ADLTE is genetically heterogeneous, and mutations in LGI1 account for fewer than 50% of affected families. Here, we report the identification of causal mutations in reelin (RELN) in seven ADLTE-affected families without LGI1 mutations. We initially investigated 13 ADLTE-affected families by performing SNP-array linkage analysis and whole-exome sequencing and identified three heterozygous missense mutations co-segregating with the syndrome. Subsequent analysis of 15 small ADLTE-affected families revealed four additional missense mutations. 3D modeling predicted that all mutations have structural effects on protein-domain folding. Overall, RELN mutations occurred in 7/40 (17.5%) ADLTE-affected families. RELN encodes a secreted protein, Reelin, which has important functions in both the developing and adult brain and is also found in the blood serum. We show that ADLTE-related mutations significantly decrease serum levels of Reelin, suggesting an inhibitory effect of mutations on protein secretion. We also show that Reelin and LGI1 co-localize in a subset of rat brain neurons, supporting an involvement of both proteins in a common molecular pathway underlying ADLTE. Homozygous RELN mutations are known to cause lissencephaly with cerebellar hypoplasia. Our findings extend the spectrum of neurological disorders associated with RELN mutations and establish a link between RELN and LGI1, which play key regulatory roles in both the developing and adult brain. 相似文献
157.
Stephan Wilmes Oliver Beutel Zhi Li Véronique Francois-Newton Christian P. Richter Dennis Janning Cindy Kroll Patrizia Hanhart Katharina H?tte Changjiang You Gilles Uzé Sandra Pellegrini Jacob Piehler 《The Journal of cell biology》2015,209(4):579-593
Type I interferons (IFNs) activate differential cellular responses through a shared cell surface receptor composed of the two subunits, IFNAR1 and IFNAR2. We propose here a mechanistic model for how IFN receptor plasticity is regulated on the level of receptor dimerization. Quantitative single-molecule imaging of receptor assembly in the plasma membrane of living cells clearly identified IFN-induced dimerization of IFNAR1 and IFNAR2. The negative feedback regulator ubiquitin-specific protease 18 (USP18) potently interferes with the recruitment of IFNAR1 into the ternary complex, probably by impeding complex stabilization related to the associated Janus kinases. Thus, the responsiveness to IFNα2 is potently down-regulated after the first wave of gene induction, while IFNβ, due to its ∼100-fold higher binding affinity, is still able to efficiently recruit IFNAR1. Consistent with functional data, this novel regulatory mechanism at the level of receptor assembly explains how signaling by IFNβ is maintained over longer times compared with IFNα2 as a temporally encoded cause of functional receptor plasticity. 相似文献
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Ángel G. Polanco Rodríguez M. Inmaculada Riba López T. Ángel DelValls Casillas Patrizia Quattrocchi Fernando J. Álvarez Cervera Francisco J. Solorio Sánchez 《人类与生态风险评估》2015,21(7):1960-1979
In order to analyze risk perception related to the use and handling of organochlorine pesticides (OCP) in agricultural and livestock activities among Maya communities of Yucatan, Mexico, and to study their impact on public health and the environment, we conducted an analytical study applying 274 semi-structured interviews in 11 municipalities in the zone called “Ring of Cenotes.” The harmful effects of agrochemicals on water supplies, soils, air, and human health were considered, including the indoor use of pesticides to preserve harvest products. Recent studies showed high levels of OCP in groundwater. A generalized low risk perception related to human health and the environment due to pesticide use was found. Likewise, social parameters were analyzed, including the educational level, as well as risk factors related to groundwater karst vulnerability. Pesticides that have been banned by international conventions are still in use. The occurrence of some diseases such as cervical cancer, with a very high prevalence at the national level, and the practice of obtaining drinking water from polluted wells and sinkholes, may be associated with this low risk perception and with poor social conditions. Establishing programs on health education, agro-ecological production alternatives, and water chemical quality monitoring is recommended. 相似文献
160.
Mona-Rita Yacoub Matteo Trimarchi George Cremona Sara Dal Farra Giuseppe Alvise Ramirez Valentina Canti Emanuel Della Torre Mattia Baldini Patrizia Pignatti Mario Bussi Maria Grazia Sabbadini Angelo A Manfredi Giselda Colombo 《Clinical and molecular allergy : CMA》2015,13(1)