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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome 总被引:7,自引:0,他引:7 下载免费PDF全文
De Luca A Bottillo I Sarkozy A Carta C Neri C Bellacchio E Schirinzi A Conti E Zampino G Battaglia A Majore S Rinaldi MM Carella M Marino B Pizzuti A Digilio MC Tartaglia M Dallapiccola B 《American journal of human genetics》2005,77(6):1092-1101
Neurofibromatosis type 1 (NF1) demonstrates phenotypic overlap with Noonan syndrome (NS) in some patients, which results in the so-called neurofibromatosis-Noonan syndrome (NFNS). From a genetic point of view, NFNS is a poorly understood condition, and controversy remains as to whether it represents a variable manifestation of either NF1 or NS or is a distinct clinical entity. To answer this question, we screened a cohort with clinically well-characterized NFNS for mutations in the entire coding sequence of the NF1 and PTPN11 genes. Heterozygous NF1 defects were identified in 16 of the 17 unrelated subjects included in the study, which provides evidence that mutations in NF1 represent the major molecular event underlying this condition. Lesions included nonsense mutations, out-of-frame deletions, missense changes, small inframe deletions, and one large multiexon deletion. Remarkably, a high prevalence of inframe defects affecting exons 24 and 25, which encode a portion of the GAP-related domain of the protein, was observed. On the other hand, no defect in PTPN11 was observed, and no lesion affecting exons 11-27 of the NF1 gene was identified in 100 PTPN11 mutation-negative subjects with NS, which provides further evidence that NFNS and NS are genetically distinct disorders. These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals. 相似文献
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Marco Amante Matthias Schöller Pompeo Suma Agatino Russo 《Entomologia Experimentalis et Applicata》2017,163(3):251-264
Bethylidae is a family belonging to the insect order Hymenoptera and contains about 2 200 described species. Bethylids typically parasitize larvae of Lepidoptera and Coleoptera, including species that are serious pests of stored products. Here, we review the main characteristics of each of the bethylids reported as biological control agent of these pests. The biological characteristics and peculiarities are reported for each species, and the potential for their practical application is discussed. 相似文献
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Roberto Giorda M. Clara Bonaglia Silvana Beri Francesca Novara Jill Urquhart Claudio Zucca Susan Marelli Daniela Di Benedetto Girolamo A. Vitello Santina Reitano Francesca Bisulli Massimo Mastrangelo Luigina Spaccini Elena Fontana Jill Clayton-Smith Philippe Jonveaux Marco Seri Bernardo dalla Bernardina 《American journal of human genetics》2009,85(3):394-400
Submicroscopic copy-number variations make a considerable contribution to the genetic etiology of human disease. We have analyzed subjects with idiopathic mental retardation (MR) by using whole-genome oligonucleotide-based array comparative genomic hybridization (aCGH) and identified familial and de novo recurrent Xp11.22-p11.23 duplications in males and females with MR, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. The size of the duplications ranges from 0.8–9.2 Mb. Most affected females show preferential activation of the duplicated X chromosome. Carriers of the smallest duplication show X-linked recessive inheritance. All other affected individuals present dominant expression and comparable clinical phenotypes irrespective of sex, duplication size, and X-inactivation pattern. The majority of the rearrangements are mediated by recombination between flanking complex segmental duplications. The identification of common clinical features, including the typical EEG pattern, predisposing genomic structure, and peculiar X-inactivation pattern, suggests that duplication of Xp11.22-p11.23 constitutes a previously undescribed syndrome. 相似文献
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Khaled Abbes Antonio Biondi Alican Kurtulus Michele Ricupero Agatino Russo Gaetano Siscaro Brahim Chermiti Lucia Zappalà 《PloS one》2015,10(9)
We studied the acute toxicity and the sublethal effects, on reproduction and host-killing activity, of four widely used insecticides on the generalist parasitoid Bracon nigricans (Hymenoptera: Braconidae), a natural enemy of the invasive tomato pest, Tuta absoluta (Lepidoptera: Gelechiidae). Laboratory bioassays were conducted applying maximum insecticide label rates at three constant temperatures, 25, 35 and 40°C, considered as regular, high and very high, respectively. Data on female survival and offspring production were used to calculate population growth indexes as a measure of population recovery after pesticide exposure. Spinetoram caused 80% mortality at 25°C and 100% at higher temperatures, while spinosad caused 100% mortality under all temperature regimes. Cyantraniliprole was slightly toxic to B. nigricans adults in terms of acute toxicity at the three temperatures, while it did not cause any sublethal effects in egg-laying and host-killing activities. The interaction between the two tested factors (insecticide and temperature) significantly influenced the number of eggs laid by the parasitoid, which was the lowest in the case of females exposed to chlorantraniliprole at 35°C. Furthermore, significantly lower B. nigricans demographic growth indexes were estimated for all the insecticides under all temperature conditions, with the exception of chlorantraniliprole at 25°C. Our findings highlight an interaction between high temperatures and insecticide exposure, which suggests a need for including natural stressors, such as temperature, in pesticide risk assessments procedures. 相似文献
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José Carlos Franco Elsa Borges da Silva Taiadjana Fortuna Elisabete Cortegano Manuela Branco Pompeo Suma Ivan La Torre Agatino Russo Miriam Elyahu Alex Protasov Anat Levi-Zada Zvi Mendel 《Biological Control》2011,58(3):230-238
The present study was aimed at elucidating the role of lavandulyl senecioate (LS), the sex pheromone of Planococcus ficus, in host selection of the parasitoid Anagyrus sp. near pseudococci. Field trials were carried out in Portugal, Italy and Israel. The effect of LS on the parasitism rate of the wasp was determined by exposing sentinel mealybugs combined with pheromone dispensers impregnated with LS, in comparison with other baits: lavandulyl isovalerate (LI); planococcyl acetate (PAc); and unbaited control traps. In addition, in order to study the host location behavior of A. sp. near pseudococci, pheromone dispensers were placed at three different distances: inside the trap, 30 or 60 cm away from the trap. The number of parasitoid females inside the traps, the number of parasitized mealybugs, and the number of days required for the first parasitoid emergence were recorded. The response of A. sp. near pseudococci females to different doses of LS (25–1350 μg) was also evaluated using sticky plate traps. The rate of mealybug parasitism by A. sp. near pseudococci was significantly increased by LS in the three parasitoid populations. PAc and LI had no significant effect on the wasp parasitism rate in most of the trials. However, the Italian population of the parasitoid responded to PAc, showing apparently a different behavioral pattern. The number of parasitoid females trapped did not significantly differ between tested doses of LS. The use of LS as an arrestant in host location by the A. sp. near pseudococci female is discussed. 相似文献
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Gaetana Mazzeo Salvatore Nucifora Agatino Russo Pompeo Suma 《Entomologia Experimentalis et Applicata》2019,167(1):59-72
The Opuntia cochineal scale or false carmine cochineal scale, Dactylopius opuntiae (Cockerell) (Hemiptera: Dactylopiidae), is spreading rapidly in many countries, especially in the Mediterranean basin, where it has become a serious pest of prickly pear crops, Opuntia ficus‐indica (L.) Miller (Cactaceae). This crop is an important food resource both for humans and livestock. The cochineal was originally used as a biological agent to control cactaceous weeds in many countries where Opuntiaceae had been introduced. Currently, in some countries where the prickly pear is no longer considered a weed but a productive crop, as in the Mediterranean area, D. opuntiae has changed its role from a highly prized biological control agent to the status of serious pest. This paper provides an overview of the current knowledge on D. opuntiae for farmers and stakeholders in order to indicate the most appropriate way to limit or counteract the spread of this pest especially in new cultivated areas. 相似文献
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Muhammad?Sajid Hussain Agatino Battaglia Sandra Szczepanski Emrah Kaygusuz Mohammad?Reza Toliat Shin-ichi Sakakibara Janine Altmüller Holger Thiele Gudrun Nürnberg Shahida Moosa G?khan Yigit Filippo Beleggia Sigrid Tinschert Jill Clayton-Smith Pradeep Vasudevan Jill?E. Urquhart Dian Donnai Alan Fryer Ferda Percin Francesco Brancati Angus Dobbie Robert ?migiel Gabriele Gillessen-Kaesbach Bernd Wollnik Angelika?Anna Noegel William?G. Newman Peter Nürnberg 《American journal of human genetics》2014,95(5):622-632
Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs∗6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. 相似文献
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The volatile components of grape pomace coming from the processing of some of the most important varieties of grape (Vitis vinifera L.) cultivated in Sicily, namely Nero d'Avola, Nerello Mascalese, Frappato and Cabernet Sauvignon, have been determined by gas-chromatography (GC) and gas-chromatography-mass spectrometry (GC-MS). According to the winemaking procedure that entails the removal of stalks before fermentation, two kinds of grape pomace are obtained. The first consists of skins, pulp residues and seeds, the proper grape pomace, which is partially used for grappa, a typical Italian spirit, and alcohol production, the second consists almost exclusively of stalks. On the whole, 38 components have been characterized in the samples of grape pomaces, with Frappato cv. showing the richest composition; instead, 88 components have been detected in the stalks of Frappato, Nero d'Avola, Nerello Mascalese and Cabernet Sauvignon varieties. In order to make a comparison between the grape varieties easier, the volatile components detected in the two sets of samples (grape pomaces and stalks) have been grouped in different classes. Significant differences among varieties have been detected and statistical treatment of data is also reported. This study is part of a wider project aimed at the possible exploitation of the main agro-industrial by-products. At the same time it is one of the first reports on the volatile components of this waste material. 相似文献
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