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41.
Sarparanta J Jonson PH Golzio C Sandell S Luque H Screen M McDonald K Stajich JM Mahjneh I Vihola A Raheem O Penttilä S Lehtinen S Huovinen S Palmio J Tasca G Ricci E Hackman P Hauser M Katsanis N Udd B 《Nature genetics》2012,44(4):450-5, S1-2
Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to chromosome 7q36 over a decade ago, but its genetic cause has remained elusive. Here we studied nine LGMD-affected families from Finland, the United States and Italy and identified four dominant missense mutations leading to p.Phe93Leu or p.Phe89Ile changes in the ubiquitously expressed co-chaperone DNAJB6. Functional testing in vivo showed that the mutations have a dominant toxic effect mediated specifically by the cytoplasmic isoform of DNAJB6. In vitro studies demonstrated that the mutations increase the half-life of DNAJB6, extending this effect to the wild-type protein, and reduce its protective anti-aggregation effect. Further, we show that DNAJB6 interacts with members of the CASA complex, including the myofibrillar myopathy-causing protein BAG3. Our data identify the genetic cause of LGMD1D, suggest that its pathogenesis is mediated by defective chaperone function and highlight how mutations in a ubiquitously expressed gene can exert effects in a tissue-, isoform- and cellular compartment-specific manner. 相似文献
42.
Helena V. Strandström J. L. Ambrus J. W. Pickren 《Cellular and molecular life sciences : CMLS》1969,25(7):769-771
Résumé Le virusYaba, pox virus oncogène pour les primates, a produit des microtumeurs sur la membrane chorioallantoÏque des embryons de poulet de quelques variétés et de différents âges. La sensibilité a pu Être transférée d'une variété à l'autre par l'inoculation de. liquide allantoÏque. 相似文献
43.
Gibbons RJ Pellagatti A Garrick D Wood WG Malik N Ayyub H Langford C Boultwood J Wainscoat JS Higgs DR 《Nature genetics》2003,34(4):446-449
Inherited mutations of specific genes have elucidated the normal roles of the proteins they encode by relating specific mutations to particular phenotypes. But many potentially informative mutations in such genes are lethal early in development. Consequently, inherited mutations may not reflect all the functional roles of such proteins. Acquired, somatic defects should reflect a wider spectrum of mutations because they are not prone to negative selection in development. It has been difficult to identify such mutations so far, but microarray analysis provides a new opportunity to do so. Using this approach, we have shown that in individuals with myelodysplasia associated with alpha-thalassemia (ATMDS), somatic mutations of the gene encoding the chromatin remodeling factor ATRX cause an unexpectedly severe hematological phenotype compared with the wide spectrum of inherited mutations affecting this gene. These findings cast new light on this pleiotropic cofactor, which appears to be an essential component rather than a mere facilitator of globin gene expression. 相似文献
44.
Helena de Souza Santos W. da Silva Sasso 《Cellular and molecular life sciences : CMLS》1973,29(4):473-474
Resumen Es estudiada la ultraestructure y la histochimica de gránulos de secreción de células glandulares mucosas del pié ambulacrario de la estrella de marEchinaster brasiliensis. Estos gránulos secretores tienen una organización distincta comparada con aqueles encuentrados en la estrella del marAsternia stellifera anteriormente estudiada. Así son organizados en forma de circolos concentricos en torno du un eixo.
Acknowledgments. The authors wish to express their thanks to Mrs.Arlene Mayhugh for her valuable technical assistance. This work was, in part, supported by grants from the Fundação de Amparo à Pesquisa do Estado de São Paulo, Brazil.
Pesquisadora-Conferencista do CNPq (TC 308-Proc. 9051/70). 相似文献
Acknowledgments. The authors wish to express their thanks to Mrs.Arlene Mayhugh for her valuable technical assistance. This work was, in part, supported by grants from the Fundação de Amparo à Pesquisa do Estado de São Paulo, Brazil.
Pesquisadora-Conferencista do CNPq (TC 308-Proc. 9051/70). 相似文献
45.
Anderson K Lutz C van Delft FW Bateman CM Guo Y Colman SM Kempski H Moorman AV Titley I Swansbury J Kearney L Enver T Greaves M 《Nature》2011,469(7330):356-361
Little is known of the genetic architecture of cancer at the subclonal and single-cell level or in the cells responsible for cancer clone maintenance and propagation. Here we have examined this issue in childhood acute lymphoblastic leukaemia in which the ETV6-RUNX1 gene fusion is an early or initiating genetic lesion followed by a modest number of recurrent or 'driver' copy number alterations. By multiplexing fluorescence in situ hybridization probes for these mutations, up to eight genetic abnormalities can be detected in single cells, a genetic signature of subclones identified and a composite picture of subclonal architecture and putative ancestral trees assembled. Subclones in acute lymphoblastic leukaemia have variegated genetics and complex, nonlinear or branching evolutionary histories. Copy number alterations are independently and reiteratively acquired in subclones of individual patients, and in no preferential order. Clonal architecture is dynamic and is subject to change in the lead-up to a diagnosis and in relapse. Leukaemia propagating cells, assayed by serial transplantation in NOD/SCID IL2Rγ(null) mice, are also genetically variegated, mirroring subclonal patterns, and vary in competitive regenerative capacity in vivo. These data have implications for cancer genomics and for the targeted therapy of cancer. 相似文献