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排序方式: 共有168条查询结果,搜索用时 31 毫秒
111.
G H Wong L A Tartaglia M S Lee D V Goeddel 《Journal of immunology (Baltimore, Md. : 1950)》1992,149(10):3350-3353
Agonist antibodies (Ab) to the two TNF receptors, TNF-R1 (55 kDa) and TNF-R2 (75 kDa), have been shown to signal many of the distinct functions induced by TNF-alpha. We have found that anti-TNF-R1, but not anti-TNF-R2, Ab trigger antiviral activity in human hepatoma Hep-G2 cells and enhance the antiviral activity of IFN-gamma in human lung fibroblast A549 cells. Likewise, anti-human-TNF-R1 Ab had antiviral enhancing activity on murine L929 cells engineered to express human TNF-R1. However, L929 cells that express human TNF-R1 lacking most of the intracellular domain fail to respond to anti-human-TNF-R1 Ab. This demonstrates that the intracellular domain of TNF-R1 is necessary to generate antiviral activity. TNF-R1 but not TNF-R2 also signals killing of virus-infected cells by TNF-alpha. Thus, all the known antiviral activities of TNF-alpha are mediated through TNF-R1. 相似文献
112.
De Felício CM Ferreira CL Medeiros AP Rodrigues Da Silva MA Tartaglia GM Sforza C 《Journal of electromyography and kinesiology》2012,22(2):266-272
This study examined whether there is an association between surface electromyography (EMG) of masticatory muscles, orofacial myofunction status and temporomandibular disorder (TMD) severity scores. Forty-two women with TMD (mean 30 years, SD 8) and 18 healthy women (mean 26 years, SD 6) were examined. According to the Research Diagnostic Criteria for TMD (RDC/TMD), all patients had myogenous disorders plus disk displacements with reduction. Surface EMG of masseter and temporal muscles was performed during maximum teeth clenching either on cotton rolls or in intercuspal position. Standardized EMG indices were obtained. Validated protocols were used to determine the perception severity of TMD and to assess orofacial myofunctional status. TMD patients showed more asymmetry between right and left muscle pairs, and more unbalanced contractile activities of contralateral masseter and temporal muscles (p<0.05, t-test), worse orofacial myofunction status and higher TMD severity scores (p<0.05, Mann-Whitney test) than healthy subjects. Spearman coefficient revealed significant correlations between EMG indices, orofacial myofunctional status and TMD severity (p<0.05). In conclusion, these methods will provide useful information for TMD diagnosis and future therapeutic planning. 相似文献
113.
M. Tartaglia C. Di Rocco Elisabeth Lajeunie Sonia Valeri F. Velardi Piero A. Battaglia 《Human genetics》1997,101(1):47-50
Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations.
This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations
in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of this syndrome and of at
least four other craniosynostotic disorders, namely the Apert, Beare-Stevenson cutis gyrata, Crouzon and Pfeiffer syndromes.
We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. Both nucleotide
changes predict a serine for cysteine-342 substitution in the second half of the third immunoglobulin-like domain. The replacement
of Cys-342 with arginine has previously been reported in one of the three Jackson-Weiss cases investigated. Interestingly,
both Cys342Ser and Cys342Arg substitutions have been found to be associated with the Crouzon and Pfeiffer phenotypes; a phenotypic
heterogeneity, Crouzon vs Jackson-Weiss clinical features, has been also observed for Gln289Pro and Ala344Gly amino-acid changes.
This finding indicates the genetic homogeneity of the “heterogeneous” Jackson-Weiss phenotype and a common molecular basis
for these apparently “clinically distinct” craniosynostotic disorders.
Received: 13 February 1997 / Accepted: 10 June 1997 相似文献
114.
Perreau M Welles HC Harari A Hall O Martin R Maillard M Dorta G Bart PA Kremer EJ Tartaglia J Wagner R Esteban M Levy Y Pantaleo G 《Journal of virology》2011,85(19):9854-9862
In the present study, we have investigated the anatomic distribution in blood and gut mucosal tissues of memory poxvirus-specific CD4 and CD8 T cells in subjects vaccinated with smallpox and compared it with vector (NYVAC)-specific and HIV insert-specific T-cell responses induced by an experimental DNA-C/ NYVAC-C vaccine regimen. Smallpox-specific CD4 T-cell responses were present in the blood of 52% of the subjects studied, while smallpox-specific CD8 T cells were rarely detected (12%). With one exception, smallpox-specific T cells were not measurable in gut tissues. Interestingly, NYVAC vector-specific and HIV-specific CD4 and CD8 T-cell responses were detected in almost 100% of the subjects immunized with DNA-C/NYVAC-C in blood and gut tissues. The large majority (83%) of NYVAC-specific CD4 T cells expressed α4β7 integrins and the HIV coreceptor CCR5. These results demonstrate that the experimental DNA-C/NYVAC-C HIV vaccine regimen induces the homing of potentially protective HIV-specific CD4 and CD8 T cells in the gut, the port of entry of HIV and one of the major sites for HIV spreading and the depletion of CD4 T cells. 相似文献
115.
Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features
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The male sex chromosome disorder, 47,XYY syndrome (XYY), is associated with increased risk for social‐emotional difficulties, attention‐deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). We hypothesize that increased Y chromosome gene copy number in XYY leads to overexpression of Y‐linked genes related to brain development and function, thereby increasing risk for these phenotypes. We measured expression in blood of two Y genes NLGN4Y and RPS4Y in 26 boys with XYY and 11 male controls and evaluated whether NLGN4Y expression correlates with anxiety, ADHD, depression and autistic behaviors (from questionnaires) in boys with XYY. The XYY cohort had increased risk of ASD behaviors on the social responsiveness scale (SRS) and increased attention deficits on the Conners' DSM‐IV inattention and hyperactive scales. In contrast, there was no increase in reported symptoms of anxiety or depression by the XYY group. Peripheral expression of two Y genes in boys with XYY vs. typically developing controls was increased twofold in the XYY group. Results from the SRS total and autistic mannerisms scales, but not from the attention, anxiety or depression measures, correlated with peripheral expression of NLGN4Y in boys with XYY. Males with XYY have social phenotypes that include increased risk for autism‐related behaviors and ADHD. Expression of NLGN4Y, a gene that may be involved in synaptic function, is increased in boys with XYY, and the level of expression correlates with overall social responsiveness and autism symptoms. Thus, further investigation of NLGN4Y as a plausible ASD risk gene in XYY is warranted. 相似文献
116.
Francesca Clementina Radio Kaifang Pang Andrea Ciolfi Michael A. Levy Andrés Hernández-García Lucia Pedace Francesca Pantaleoni Zhandong Liu Elke de Boer Adam Jackson Alessandro Bruselles Haley McConkey Emilia Stellacci Stefania Lo Cicero Marialetizia Motta Rosalba Carrozzo Maria Lisa Dentici Kirsty McWalter Marco Tartaglia 《American journal of human genetics》2021,108(3):502-516
117.
Cláudia Maria De Felício Andrea Mapelli Fernanda Vincia Sidequersky Gianluca M. Tartaglia Chiarella Sforza 《Journal of electromyography and kinesiology》2013,23(3):627-633
Mandibular kinematic and standardized surface electromyography (sEMG) characteristics of masticatory muscles of subjects with short lasting TMD of mild-moderate severity were examined.Volunteers were submitted to clinical examination and questionnaire of severity. Ten subjects with TMD (age 27.3 years, SD 7.8) and 10 control subjects without TMD, matched by age, were selected.Mandibular movements were recorded during free maximum mouth opening and closing (O–C) and unilateral, left and right, gum chewing. sEMG of the masseter and temporal muscles was performed during maximum teeth clenching either on cotton rolls or in intercuspal position, and during gum chewing. sEMG indices were obtained. Subjects with TMD, relative to control subjects, had lower relative mandibular rotation at the end of mouth opening, larger mean number of intersection between interincisal O–C paths during mastication and smaller asymmetry between working and balancing side, with participation beyond the expected of the contralateral muscles (P < 0.05, t-test). Overall, TMD subjects showed similarities with the control subjects in several kinematic parameters and the EMG indices of the static test, although some changes in the mastication were observed. 相似文献
118.
119.
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease 总被引:9,自引:0,他引:9
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Tartaglia M Martinelli S Stella L Bocchinfuso G Flex E Cordeddu V Zampino G Burgt Iv Palleschi A Petrucci TC Sorcini M Schoch C Foa R Emanuel PD Gelb BD 《American journal of human genetics》2006,78(2):279-290
Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas somatic mutations in the same gene contribute to leukemogenesis. On the basis of our previously gathered genetic and biochemical data, we proposed a model that splits NS- and leukemia-associated PTPN11 mutations into two major classes of activating lesions with differential perturbing effects on development and hematopoiesis. To test this model, we investigated further the diversity of germline and somatic PTPN11 mutations, delineated the association of those mutations with disease, characterized biochemically a panel of mutant SHP-2 proteins recurring in NS, LS, and leukemia, and performed molecular dynamics simulations to determine the structural effects of selected mutations. Our results document a strict correlation between the identity of the lesion and disease and demonstrate that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones. Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations. 相似文献
120.
Kiran Yanamandra Oleg Alexeyev Vladimir Zamotin Vaibhav Srivastava Andrei Shchukarev Ann-Christin Brorsson Gian Gaetano Tartaglia Thomas Vogl Rakez Kayed Gunnar Wingsle Jan Olsson Christopher M. Dobson Anders Bergh Fredrik Elgh Ludmilla A. Morozova-Roche 《PloS one》2009,4(5)