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M G Obregon R Mingarelli M C Digilio L Zelante A Giannotti G Sabatino B Dallapiccola 《Annales de génétique》1992,35(4):208-212
Three unrelated patients with de novo del 11q23-->qter are reported. Clinical features included growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures, eye globe malformations, depressed nasal bridge, "carp-shaped" mouth, highly arched palate, low set and malformed ears. One patient had congenital heart defect, and reduced platelet count. This syndrome, originally reported by Jacobsen, is now corroborated by more than 35 patients and appears as the most common deletion involving 11q. Since deletion of subband 11q24.1 is critical for full expression of this syndrome, the JBS phenotype could be an example of contiguous gene syndrome. 相似文献
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Lorena P. Herrera Malena C. Sabatino Florencia R. Jaimes Santiago Saura 《Biodiversity and Conservation》2017,26(14):3465-3479
Connectivity losses lead to a reduction of the amount of habitat resources that can be reached and used by species, and hence to a decline in the ranges and abundance of multiple taxa. Despite the recognized important role of small habitat patches for many species inhabiting fragmented landscapes, their potential contribution as stepping stones for maintaining overall landscape connectivity has received less attention. Using connectivity metrics based on a graph-theoretic approach we (i) quantified the connectivity of grassland patches in a sector of the Pampa region in Argentina, using a range of dispersal distances (from 100 to 10,000 m) representative of the scale of dispersal of different species; (ii) identified the most relevant patches for maintaining overall connectivity; and (iii) studied the importance of small patches (defined for different area thresholds of 5, 20, and 50 ha) as connectivity providers in the landscape. Although grassland patches were in general poorly connected at all distances, some of them were critical for overall connectivity and were found to play different crucial roles in the patch network. The location of small patches in the grassland network allowed them to function as stepping stones, yielding significant connectivity gains for species that move large distances (>5000 m) for the three area thresholds considered. Thus, under the spatial pattern of the studied landscape, species that move long distances would benefit from stepping stones, while less mobile organisms would benefit from, and mostly rely on the largest patches. We recommend that future management activities should (i) aim at preserving the grassland patches with the highest potential as stepping stones to promote landscape-level connectivity; and (ii) pay more attention to the conservation of key small patches, particularly given that usually they are those more vulnerable to land clearing for agriculture. 相似文献
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Gallagher PG Sabatino DE Basseres DS Nilson DM Wong C Cline AP Garrett LJ Bodine DM 《The Journal of biological chemistry》2001,276(45):41683-41689
Ankyrin defects are the most common cause of hereditary spherocytosis (HS). In several kindreds with recessive, ankyrin-deficient HS, mutations have been identified in the ankyrin promoter that have been proposed to decrease ankyrin synthesis. We analyzed the effects of two mutations, -108T to C and -108T to C in cis with -153G to A, on ankyrin expression. No difference between wild type and mutant promoters was demonstrated in transfection or gel shift assays in vitro. Transgenic mice with a wild type ankyrin promoter linked to a human (A)gamma-globin gene expressed gamma-globin in 100% of erythrocytes in a copy number-dependent, position-independent manner. Transgenic mice with the mutant -108 promoter demonstrated variegated gamma-globin expression, but showed copy number-dependent and position-independent expression similar to wild type. Severe effects in ankyrin expression were seen in mice with the linked -108/-153 mutations. Three transgenic lines had undetectable levels of (A)gamma-globin mRNA, indicating position-dependent expression, and four lines expressed significantly lower levels of (A)gamma-globin mRNA than wild type. Two of four expressing lines showed variegated gamma-globin expression, and there was no correlation between transgene copy number and RNA level, indicating copy number-independent expression. These data are the first demonstration of functional defects caused by HS-related, ankyrin gene promoter mutations. 相似文献
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The phylogenetic structure of plant–pollinator networks increases with habitat size and isolation 下载免费PDF全文
Marcelo A. Aizen Gabriela Gleiser Malena Sabatino Luis J. Gilarranz Jordi Bascompte Miguel Verdú 《Ecology letters》2016,19(1):29-36
Similarity among species in traits related to ecological interactions is frequently associated with common ancestry. Thus, closely related species usually interact with ecologically similar partners, which can be reinforced by diverse co‐evolutionary processes. The effect of habitat fragmentation on the phylogenetic signal in interspecific interactions and correspondence between plant and animal phylogenies is, however, unknown. Here, we address to what extent phylogenetic signal and co‐phylogenetic congruence of plant–animal interactions depend on habitat size and isolation by analysing the phylogenetic structure of 12 pollination webs from isolated Pampean hills. Phylogenetic signal in interspecific interactions differed among webs, being stronger for flower‐visiting insects than plants. Phylogenetic signal and overall co‐phylogenetic congruence increased independently with hill size and isolation. We propose that habitat fragmentation would erode the phylogenetic structure of interaction webs. A decrease in phylogenetic signal and co‐phylogenetic correspondence in plant–pollinator interactions could be associated with less reliable mutualism and erratic co‐evolutionary change. 相似文献
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M Sabatino V La Grutta G Gravante G La Grutta 《Archives internationales de physiologie et de biochimie》1984,92(4):291-296
Electrically induced afterdischarge (ADs) were evoked in the cats' dorsal hippocampus. The action of the conditioning prestimulation of the pallidus nucleus on AD duration was studied. A significant facilitatory influence was observed when pallidal conditioning stimulation immediately preceded hippocampal test stimulation. The time course of the phenomenon showed a decrease of the conditioning action when the interval between the two stimulations increased : complete disappearance of the effect occurred after about 800 ms. Results are discussed as far as functional relationships between basal ganglia and rhinencephalic system are concerned. 相似文献
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Amjad Horani Thomas W. Ferkol David Shoseyov Mollie G. Wasserman Yifat S. Oren Batsheva Kerem Israel Amirav Malena Cohen-Cymberknoh Susan K. Dutcher Steven L. Brody Orly Elpeleg Eitan Kerem 《PloS one》2013,8(3)
Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrations, and absent dynein arms. Linkage analyses revealed a single common homozygous region on chromosome 8 and one candidate was conserved in organisms with motile cilia. Sequencing revealed a single novel mutation in LRRC6 (Leucine-rich repeat containing protein 6) that fit the model of autosomal recessive genetic transmission, leading to a change of a highly conserved amino acid from aspartic acid to histidine (Asp146His). LRRC6 was localized to the cytoplasm and was up-regulated during ciliogenesis in human airway epithelial cells in a Foxj1-dependent fashion. Nasal epithelial cells isolated from affected individuals and shRNA-mediated silencing in human airway epithelial cells, showed reduced LRRC6 expression, absent dynein arms, and slowed cilia beat frequency. Dynein arm proteins were either absent or mislocalized to the cytoplasm in airway epithelial cells from a primary ciliary dyskinesia subject. These findings suggest that LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects. 相似文献