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Canovetti Annalisa Rossi Francesca Rossi Michele Menabuoni Luca Malandrini Alex Pini Roberto Ferrara Paolo 《Biomechanics and modeling in mechanobiology》2019,18(2):319-325
Biomechanics and Modeling in Mechanobiology - The aim of this study was to qualitatively evaluate the biomechanical load resistance of different surgical wound configurations (mushroom, zig-zag,... 相似文献
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Duff RM Tay V Hackman P Ravenscroft G McLean C Kennedy P Steinbach A Schöffler W van der Ven PF Fürst DO Song J Djinović-Carugo K Penttilä S Raheem O Reardon K Malandrini A Gambelli S Villanova M Nowak KJ Williams DR Landers JE Brown RH Udd B Laing NG 《American journal of human genetics》2011,(6):79-740
Linkage analysis of the dominant distal myopathy we previously identified in a large Australian family demonstrated one significant linkage region located on chromosome 7 and encompassing 18.6 Mbp and 151 genes. The strongest candidate gene was FLNC because filamin C, the encoded protein, is muscle-specific and associated with myofibrillar myopathy. Sequencing of FLNC cDNA identified a c.752T>C (p.Met251Thr) mutation in the N-terminal actin-binding domain (ABD); this mutation segregated with the disease and was absent in 200 controls. We identified an Italian family with the same phenotype and found a c.577G>A (p.Ala193Thr) filamin C ABD mutation that segregated with the disease. Filamin C ABD mutations have not been described, although filamin A and filamin B ABD mutations cause multiple musculoskeletal disorders. The distal myopathy phenotype and muscle pathology in the two families differ from myofibrillar myopathies caused by filamin C rod and dimerization domain mutations because of the distinct involvement of hand muscles and lack of pathological protein aggregation. Thus, like the position of FLNA and B mutations, the position of the FLNC mutation determines disease phenotype. The two filamin C ABD mutations increase actin-binding affinity in a manner similar to filamin A and filamin B ABD mutations. Cell-culture expression of the c.752T>C (p.Met251)Thr mutant filamin C ABD demonstrated reduced nuclear localization as did mutant filamin A and filamin B ABDs. Expression of both filamin C ABD mutants as full-length proteins induced increased aggregation of filamin. We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations. 相似文献
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Nicola J. Beesley Elizabeth Attree Severo Vázquez-Prieto Román Vilas Esperanza Paniagua Florencio M. Ubeira Oscar Jensen Cesar Pruzzo José D. Álvarez Jorge Bruno Malandrini Hugo Solana Jane E. Hodgkinson 《International journal for parasitology》2021,51(6):471-480
Fasciola hepatica, the liver fluke, is a trematode parasite that causes disease of economic importance in livestock. As a zoonosis this parasite also poses a risk to human health in areas where it is endemic. Population genetic studies can reveal the mechanisms responsible for genetic structuring (non-panmixia) within parasite populations and provide valuable insights into population dynamics, which in turn enables theoretical predictions of evolutionary dynamics such as the evolution of drug resistance. Here we genotyped 320 F. hepatica collected from 14 definitive hosts from four provinces in Argentina. STRUCTURE analysis indicated three population clusters, and principal coordinate analysis confirmed this, showing population clustering across provinces. Similarly, pairwise FST values amongst all four provinces were significant, with standardised pairwise FST (F′ST) ranging from 0.0754 to 0.6327. Therefore, population genetic structure was evident across these four provinces in Argentina. However, there was no evidence of deviation from Hardy–Weinberg equilibrium, so it appears that within these sub-populations there is largely random mating. We identified 263 unique genotypes, which gave a clonal diversity of 82%. Parasites with identical genotypes, clones, accounted for 26.6% of the parasites studied and were found in 12 of the 14 hosts studied, suggesting some clonemate transmission. 相似文献
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Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 总被引:2,自引:0,他引:2
J P Rubio A Danek C Stone R Chalmers N Wood C Verellen X Ferrer A Malandrini G M Fabrizi M Manfredi J Vance M Pericak-Vance R Brown G Rudolf F Picard E Alonso M Brin A H Nmeth M Farrall A P Monaco 《American journal of human genetics》1997,61(4):899-908
Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rearrangements, we initiated a genomewide scan for linkage in 11 families, segregating for CHAC, who are of diverse geographical origin. We report here that the disease is linked, in all families, to a 6-cM region of chromosome 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum two-point LOD score of 7.1 (theta = .00) for D9S1867 was achieved, and the linked region has been confirmed by homozygosity-by-descent, in offspring from inbred families. These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene. 相似文献
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Montagnani F Malandrini A Stolzuoli L Lomurno L Buccoliero D Zanchi A 《The new microbiologica》2008,31(2):291-294
The study aims to identify bacteria causing conjunctivitis in a central Italian area and to analyze chemosusceptibility. From 2005 to 2006, 91 conjunctival swabs were collected from acute conjunctivitis cases and screened for common bacteria and fungi. Susceptibility tests were performed on isolates. Staphylococcus aureus, Streptococcus pneumoniae and Haemophilus influenzae amounted to 86.2%. Overall, 100% of strains were susceptible to chloramphenicol and 96.6% to quinolones. Conversely, 20.7% of isolates were tetracycline-resistant and, even if all Gram negative isolates were susceptible to gentamicin, the most frequently isolated pneumococci are constitutively resistant. The study provides support for a rational choice of empiric therapy. 相似文献
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Vitelli F Piccini M Caroli F Franco B Malandrini A Pober B Jonsson J Sorrentino V Renieri A 《Genomics》1999,55(3):335-340
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Three‐dimensional mapping of the orientation of collagen corneal lamellae in healthy and keratoconic human corneas using SHG microscopy 下载免费PDF全文
Raffaella Mercatelli Fulvio Ratto Francesca Rossi Francesca Tatini Luca Menabuoni Alex Malandrini Riccardo Nicoletti Roberto Pini Francesco Saverio Pavone Riccardo Cicchi 《Journal of biophotonics》2017,10(1):75-83
Keratoconus is an eye disorder that causes the cornea to take an abnormal conical shape, thus impairing its refractive functions and causing blindness. The late diagnosis of keratoconus is among the principal reasons for corneal surgical transplantation. This pathology is characterized by a reduced corneal stiffness in the region immediately below Bowman's membrane, probably due to a different lamellar organization, as suggested by previous studies. Here, the lamellar organization in this corneal region is characterized in three dimensions by means of second‐harmonic generation (SHG) microscopy. In particular, a method based on a three‐dimensional correlation analysis allows to probe the orientation of sutural lamellae close to the Bowman's membrane, finding statistical differences between healthy and keratoconic samples. This method is demonstrated also in combination with an epi‐detection scheme, paving the way for a potential clinical ophthalmic application of SHG microscopy for the early diagnosis of keratoconus.
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Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1 下载免费PDF全文
Verhoeven K Villanova M Rossi A Malandrini A De Jonghe P Timmerman V 《American journal of human genetics》2001,69(4):889-894
Intermediate Charcot-Marie-Tooth neuropathy (CMT) is an inherited sensory motor neuropathy characterized by motor median nerve conduction velocities of 25-45 m/s. We performed a genomewide search in an Italian family with autosomal dominant intermediate CMT and mapped the locus on chromosome 10q. Analysis of key recombinants maps the gene for autosomal dominant intermediate CMT to a 10.7-Mb interval on chromosome 10q24.1-q25.1, between simple tandem repeat markers D10S1709 and D10S1795. 相似文献
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