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91.
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) 总被引:7,自引:0,他引:7
Emmanuelle Plassart Alexis Elbaz Jose Vale Santos Jocelyne Reboul Pascale Lapie Dominique Chauveau Karin Jurkat-Rott Joao Guimaraes Jean-Marie Saudubray Jean Weissenbach Frank Lehmann-Horn Bertrand Fontaine 《Human genetics》1994,94(5):551-556
Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases known to involve an abnormal function of ion channels. The latter includes hypokalemic and hyperkalemic periodic paralyses, and non-dystrophic myotonias. We recently showed genetic linkage of hypoPP to loci on chromosome 1q31-32, co-localized with the DHP-sensitive calcium channel CACNL1A3. We propose to term this locus hypoPP-1. Using extended haplotypes with new markers located on chromosome 1q31-32, we now report the detailed mapping of hypoPP-1 within a 7 cM interval. Two recombinants between hypoPP-1 and the flanking markers D1S413 and D1S510 should help to reduce further the hypoPP-1 interval. We used this new information to demonstrate that a large family of French origin displaying hypoPP is not genetically linked to hypoPP-1. We excluded genetic linkage over the entire hypoPP-1 interval showing for the first time genetic heterogeneity in hypoPP. 相似文献
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Ana C. M. Brasileiro Cristiano Lacorte Bruna M. Pereira Thais N. Oliveira Deziany S. Ferreira Ana P. Z. Mota Mario A. P. Saraiva Ana C. G. Araujo Luciano P. Silva Patricia M. Guimaraes 《The Plant journal : for cell and molecular biology》2021,107(6):1681-1696
Plant expansins are structural cell wall-loosening proteins implicated in several developmental processes and responses to environmental constraints and pathogen infection. To date, there is limited information about the biological function of expansins-like B (EXLBs), one of the smallest and less-studied subfamilies of plant expansins. In the present study, we conducted a functional analysis of the wild Arachis AdEXLB8 gene in transgenic tobacco (Nicotiana tabacum) plants to clarify its putative role in mediating defense responses to abiotic and biotic stresses. First, its cell wall localization was confirmed in plants expressing an AdEXLB8:eGFP fusion protein, while nanomechanical assays indicated cell wall reorganization and reassembly due to AdEXLB8 overexpression without compromising the phenotype. We further demonstrated that AdEXLB8 increased tolerance not only to isolated abiotic (drought) and biotic (Sclerotinia sclerotiorum and Meloidogyne incognita) stresses but also to their combination. The jasmonate and abscisic acid signaling pathways were clearly favored in transgenic plants, showing an activated antioxidative defense system. In addition to modifications in the biomechanical properties of the cell wall, we propose that AdEXLB8 overexpression interferes with phytohormone dynamics leading to a defense primed state, which culminates in plant defense responses against isolated and combined abiotic and biotic stresses. 相似文献
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Marike van der Leeden Martijn PM Steultjens Dirkjan van Schaardenburg Joost Dekker 《Arthritis research & therapy》2010,12(1):R3
Introduction
The aim of our study was to investigate the presence of disease activity in the metatarsophalangeal (MTP) joints of the forefoot in rheumatoid arthritis (RA) patients in remission according to the Disease Activity Score based on 28 joints (DAS28) remission criterion. 相似文献94.
Medeiros VP Queiroz KC Cardoso ML Monteiro GR Oliveira FW Chavante SF Guimaraes LA Rocha HA Leite EL 《Biochemistry. Biokhimii?a》2008,73(9):1018-1024
Sulfated polysaccharides (fucans and fucoidans) from brown algae show several biological activities, including anticoagulant
and anti-inflammatory activities. We have extracted a sulfated heterofucan from the brown seaweed Lobophora variegata by proteolytic digestion, followed by acetone fractionation, molecular sieving, and ion-exchange chromatography. Chemical
analyses and 13C-NMR and IR spectroscopy showed that this fucoidan is composed of fucose, galactose, and sulfate at molar ratios of 1:3:2.
We compared the anticoagulant activity of L. variegata fucoidan with those of a commercial sulfated polysaccharide (also named fucoidan) from Fucus vesiculosus and heparin. The experimental inflammation models utilized in this work revealed that fucoidan from L. variegata inhibits leukocyte migration to the inflammation site. Ear swelling caused by croton oil was also inhibited when sulfated
polysaccharides from F. vesiculosus and L. variegata were used. The precise mechanism of different action between homo-and heterofucans is not clear; nevertheless, the polysaccharides
studied here may have therapeutic potential in inflammatory disorders.
Published in Russian in Biokhimiya, 2008, Vol. 73, No. 9, pp. 1265–1273. 相似文献
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Abstract Many albatross populations are declining and a major cause is believed to be incidental mortality from fishing. We investigated the effect of fishing on southern Buller's albatross Thalassarche bulleri bulleri, using a new approach to seabird population modelling that allows estimation of demographic parameters from multiple data types. Three types of data were used: a 60-year set of mark–recapture observations, four censuses of the breeding population, and estimates of fishing effort and bycatch. The fisheries risk to the viability of this population over the last 60 years appears to have been small, since the adult population is estimated to have increased about five-fold over that time. There is some cause for concern in recent changes (population growth has slowed, and perhaps reversed, and adult survival rates are falling). The most common age at first breeding was 12 years, and about 80% of adults breed each year. Annual survival was estimated to be 0.91 for juveniles, and varied between this value and 1 for adults. Though this population is not in immediate danger from fishing, there is a need for continued monitoring to see whether the recent fall in survival rates persists and causes a decline in abundance. Our analysis showed that when, as is common, mark–recapture data do not provide good estimates of all demographic rates, the assessment of seabird population trends can be improved by the use of other types of data, particularly abundance. 相似文献
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Caetano FA Beraldo FH Hajj GN Guimaraes AL Jürgensen S Wasilewska-Sampaio AP Hirata PH Souza I Machado CF Wong DY De Felice FG Ferreira ST Prado VF Rylett RJ Martins VR Prado MA 《Journal of neurochemistry》2011,117(3):538-553
In Alzheimer's disease, the amyloid-β peptide (Aβ) interacts with distinct proteins at the cell surface to interfere with synaptic communication. Recent data have implicated the prion protein (PrP(C)) as a putative receptor for Aβ. We show here that Aβ oligomers signal in cells in a PrP(C)-dependent manner, as might be expected if Aβ oligomers use PrP(C) as a receptor. Immunofluorescence, flow cytometry and cell surface protein biotinylation experiments indicated that treatment with Aβ oligomers, but not monomers, increased the localization of PrP(C) at the cell surface in cell lines. These results were reproduced in hippocampal neuronal cultures by labeling cell surface PrP(C). In order to understand possible mechanisms involved with this effect of Aβ oligomers, we used live cell confocal and total internal reflection microscopy in cell lines. Aβ oligomers inhibited the constitutive endocytosis of PrP(C), but we also found that after Aβ oligomer-treatment PrP(C) formed more clusters at the cell surface, suggesting the possibility of multiple effects of Aβ oligomers. Our experiments show for the first time that Aβ oligomers signal in a PrP(C)-dependent way and that they can affect PrP(C) trafficking, increasing its localization at the cell surface. 相似文献