Abstract:
:Information from the human genome sequence will eventually alter many aspects of clinical practice. It will increase through our understanding of disease mechanisms, and guide the development of new drugs and therapeutic procedures. In the short term, however, knowledge of the genome will have a profound clinical impact on the diagnostic capability of clinical genetics laboratories. Molecular phenotyping using genetic and genomic information will allow early and more accurate prediction and diagnosis of disease and of disease progression. Medicine will become oriented towards disease prevention rather than efforts to cure people at late stages of illness.
journal_name
Naturejournal_title
Natureauthors
Bell Jdoi
10.1038/nature02624keywords:
subject
Has Abstractpub_date
2004-05-27 00:00:00pages
453-6issue
6990eissn
0028-0836issn
1476-4687pii
nature02624journal_volume
429pub_type
杂志文章,评审相关文献
NATURE文献大全abstract::Analysis of changes in viral load after initiation of treatment with potent antiretroviral agents has provided substantial insight into the dynamics of human immunodeficiency virus type 1 (HIV-1). The concentration of HIV-1 in plasma drops by approximately 99% in the first two weeks of treatment owing to the rapid eli...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/387188a0
更新日期:1997-05-08 00:00:00
abstract::The separation of cells into populations that do not intermix, termed compartments, is a fundamental organizing principle during development. Dorsal-ventral compartmentalization of the Drosophila wing is regulated downstream of the apterous (ap) gene, which encodes a transcription factor that specifies dorsal wing fat...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/46786
更新日期:1999-09-30 00:00:00
abstract::Zygotic genome activation (ZGA) is the first transcription event in life1. However, it is unclear how RNA polymerase is engaged in initiating ZGA in mammals. Here, by developing small-scale Tn5-assisted chromatin cleavage with sequencing (Stacc-seq), we investigated the landscapes of RNA polymerase II (Pol II) binding...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-020-2847-y
更新日期:2020-11-01 00:00:00
abstract::Environmental change has altered the phenology, morphological traits and population dynamics of many species. However, the links underlying these joint responses remain largely unknown owing to a paucity of long-term data and the lack of an appropriate analytical framework. Here we investigate the link between phenoty...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature09210
更新日期:2010-07-22 00:00:00
abstract::Crustal faults have long been identified as sites where localized sliding motion occurs during earthquakes, which allows for the relative motion between adjacent crustal blocks. Although there is a growing awareness that we must understand the evolution of fault systems on many timescales to relate present-day crustal...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature01354
更新日期:2003-01-30 00:00:00
abstract::Climate strongly affects the production of sediment from mountain catchments as well as its transport and deposition within adjacent sedimentary basins. However, identifying climatic influences on basin stratigraphy is complicated by nonlinearities, feedback loops, lag times, buffering and convergence among processes ...
journal_title:Nature
pub_type: 历史文章,杂志文章
doi:10.1038/nature11513
更新日期:2012-11-01 00:00:00
abstract::The dispersal of early humans from Africa by 1.75 Myr ago led to a marked expansion of their range, from the island of Flores in the east to the Iberian peninsula in the west. This range encompassed tropical forest, savannah and Mediterranean habitats, but has hitherto not been demonstrated beyond 45 degrees N. Until ...
journal_title:Nature
pub_type: 历史文章,杂志文章
doi:10.1038/nature09117
更新日期:2010-07-08 00:00:00
abstract::Apart from the retroviral gag, pol and env the HIV genome contains the F (3' orf) gene which encodes a polypeptide of 206 amino acids which is myristylated at the N-terminal and whose function is unknown. We have expressed the F gene in Escherichia coli and from a recombinant vaccinia virus, VVTGfHIV. The F-protein pr...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/330266a0
更新日期:1987-11-19 00:00:00
abstract::MANY ferromanganese minerals have been found in marine manganese deposits. There have been terminological and intrinsic problems in accurately defining the constituents of manganese nodules(1), but 10-A manganite and delta-MnO(2) which are often compared with todorokite and birnessite seem to be the only major constit...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/279411a0
更新日期:1979-05-31 00:00:00
abstract::Soybean (Glycine max (L.) Merr.) is an important crop that provides a sustainable source of protein and oil worldwide. Soybean cyst nematode (Heterodera glycines Ichinohe) is a microscopic roundworm that feeds on the roots of soybean and is a major constraint to soybean production. This nematode causes more than US$1 ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature11651
更新日期:2012-12-13 00:00:00
abstract::AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid)-subtype ionotropic glutamate receptors mediate fast excitatory neurotransmission throughout the central nervous system. Gated by the neurotransmitter glutamate, AMPA receptors are critical for synaptic strength, and dysregulation of AMPA receptor-mediated si...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature23479
更新日期:2017-09-07 00:00:00
abstract::Achieving site selectivity in carbon-hydrogen (C-H) functionalization reactions is a long-standing challenge in organic chemistry. The small differences in intrinsic reactivity of C-H bonds in any given organic molecule can lead to the activation of undesired C-H bonds by a non-selective catalyst. One solution to this...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature12963
更新日期:2014-03-13 00:00:00
abstract::In songbirds, the remarkable temporal precision of song is generated by a sparse sequence of bursts in the premotor nucleus HVC. To distinguish between two possible classes of models of neural sequence generation, we carried out intracellular recordings of HVC neurons in singing zebra finches (Taeniopygia guttata). We...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature09514
更新日期:2010-11-18 00:00:00
abstract::Understanding the determinants of healthy mental ageing is a priority for society today. So far, we know that intelligence differences show high stability from childhood to old age and there are estimates of the genetic contribution to intelligence at different ages. However, attempts to discover whether genetic cause...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature10781
更新日期:2012-01-18 00:00:00
abstract::P2Y receptors (P2YRs), a family of purinergic G-protein-coupled receptors (GPCRs), are activated by extracellular nucleotides. There are a total of eight distinct functional P2YRs expressed in human, which are subdivided into P2Y1-like receptors and P2Y12-like receptors. Their ligands are generally charged molecules w...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature13083
更新日期:2014-05-01 00:00:00
abstract::The innate immune system is critical for the early detection of invading pathogens and for initiating cellular host defence countermeasures, which include the production of type I interferon (IFN). However, little is known about how the innate immune system is galvanized to respond to DNA-based microbes. Here we show ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature08476
更新日期:2009-10-08 00:00:00
abstract::The hydroxyl radical (OH) is a key oxidant involved in the removal of air pollutants and greenhouse gases from the atmosphere. The ratio of Northern Hemispheric to Southern Hemispheric (NH/SH) OH concentration is important for our understanding of emission estimates of atmospheric species such as nitrogen oxides and m...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature13721
更新日期:2014-09-11 00:00:00
abstract::The DNA of telomeres--the terminal DNA-protein complexes of chromosomes--differs notably from other DNA sequences in both structure and function. Recent work has highlighted its remarkable mode of synthesis by the ribonucleoprotein reverse transcriptase, telomerase, as well as its ability to form unusual structures in...
journal_title:Nature
pub_type: 杂志文章,评审
doi:10.1038/350569a0
更新日期:1991-04-18 00:00:00
abstract::Methane is a potent greenhouse gas that is produced in significant quantities by aerobic marine organisms. These bacteria apparently catalyse the formation of methane through the cleavage of the highly unreactive carbon-phosphorus bond in methyl phosphonate (MPn), but the biological or terrestrial source of this compo...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature12061
更新日期:2013-05-02 00:00:00
abstract::The recognition and localization of sound signals is fundamental to acoustic communication. Complex neural mechanisms are thought to underlie the processing of species-specific sound patterns even in animals with simple auditory pathways. In female crickets, which orient towards the male's calling song, current models...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature02787
更新日期:2004-08-12 00:00:00
abstract::It has been shown that Neanderthals contributed genetically to modern humans outside Africa 47,000-65,000 years ago. Here we analyse the genomes of a Neanderthal and a Denisovan from the Altai Mountains in Siberia together with the sequences of chromosome 21 of two Neanderthals from Spain and Croatia. We find that a p...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature16544
更新日期:2016-02-25 00:00:00
abstract::Granular superconductivity occurs when microscopic superconducting grains are separated by non-superconducting regions; Josephson tunnelling between the grains establishes the macroscopic superconducting state. Although crystals of the copper oxide high-transition-temperature (high-Tc) superconductors are not granular...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/415412a
更新日期:2002-01-24 00:00:00
abstract::Self-assembled polyhedral structures are common in biology. The coats of many viruses, for example, have a structure based on icosahedral symmetry. The preparation of synthetic polyhedral molecular assemblies represents a challenging problem, but supramolecular chemistry has now advanced to the point where the task ma...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/19740
更新日期:1999-04-29 00:00:00
abstract::The structure of foot-and-mouth disease virus has been determined at close to atomic resolution by X-ray diffraction without experimental phase information. The virus shows similarities with other picornaviruses but also several unique features. The canyon or pit found in other picornaviruses is absent; this has impor...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/337709a0
更新日期:1989-02-23 00:00:00
abstract::The AP-1 family of transcription factors, which includes the proto-oncogene products c-Jun and c-Fos, controls the stimulation of cellular genes by growth factors and the expression of oncogenes, including src and ras. Transcriptional activation by c-Jun is regulated by a cell-type-specific inhibitor that represses th...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/352165a0
更新日期:1991-07-11 00:00:00
abstract::Osteoclasts are multinucleated giant cells that resorb bone, ensuring development and continuous remodelling of the skeleton and the bone marrow haematopoietic niche. Defective osteoclast activity leads to osteopetrosis and bone marrow failure1-9, whereas excess activity can contribute to bone loss and osteoporosis10....
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-019-1105-7
更新日期:2019-04-01 00:00:00
abstract::Nonrandom chromosome rearrangements, observed in a variety of human and animal tumours, are associated in some cases with enhanced expression or deregulation of cellular oncogenes. Recently, it was shown that normal, diploid rodent cells are neoplastically transformed following transfection with two cooperating oncoge...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/316636a0
更新日期:1985-08-15 00:00:00
abstract::Superantigens such as the staphylococcal enterotoxins bind to major histocompatibility complex (MHC) class II molecules and activate T cells through a specific interaction between the V beta region of the T-cell antigen receptor (TCR) and the toxin. The TCR beta-chain alone is sufficient to produce the interaction wit...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/359841a0
更新日期:1992-10-29 00:00:00
abstract::Phytoplankton size structure is acknowledged as a fundamental property determining energy flow through 'microbial' or 'herbivore' pathways. The balance between these two pathways determines the ability of the ecosystem to recycle carbon within the upper layer or to export it to the ocean interior. Small cells are usua...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/35066560
更新日期:2001-03-15 00:00:00
abstract::Major ice sheets were permanently established on Antarctica approximately 34 million years ago, close to the Eocene/Oligocene boundary, at the same time as a permanent deepening of the calcite compensation depth in the world's oceans. Until recently, it was thought that Northern Hemisphere glaciation began much later,...
journal_title:Nature
pub_type: 历史文章,杂志文章
doi:10.1038/nature06053
更新日期:2007-08-23 00:00:00