Abstract：
:Wilms' tumour (WT), a paediatric renal neoplasm, affect approximately 1 in 10,000 children. One or both kidneys can be affected and 5-10% of tumours are bilateral. Most tumours occur sporadically; however, around 1% of the cases are familial, with siblings or cousins most often being affected. Familial cases are more frequently bilateral, and familial and bilateral tumours are diagnosed at an earlier age. On the basis of these observations, it was proposed that the development of WT requires two mutations. In most sporadic unilateral WT, both are somatic; in familial and bilateral tumours the first is thought to be germinal. Cytogenetic and molecular studies have demonstrated germinal mutations in WT/aniridia patients and somatic mutations in sporadic WT at chromosomal band 11p13. To investigate whether familial predisposition to WT is due to a germinal 11p13 mutation, we studied a WT family with seen DNA markers that span the 11p13 region. We found that familial WT predisposition was not genetically linked to any of the 11p13 markers. This suggests that the gene involved in familial WT predisposition is outside 11p13 and is distinct from the gene involved in tumorigensis and in WT predisposition in WT/aniridia 11p13-deletion patients.
journal_name
Naturejournal_title
Natureauthors
Huff V,Compton DA,Chao LY,Strong LC,Geiser CF,Saunders GFdoi
10.1038/336377a0subject
Has Abstractpub_date
1988-11-24 00:00:00pages
377-8issue
6197eissn
0028-0836issn
1476-4687journal_volume
336pub_type
杂志文章相关文献
NATURE文献大全abstract：:Humans and other animals must often make decisions on the basis of imperfect evidence. Statisticians use measures such as P values to assign degrees of confidence to propositions, but little is known about how the brain computes confidence estimates about decisions. We explored this issue using behavioural analysis an...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature07200
更新日期：2008-09-11 00:00:00
abstract：:Despite its widespread distribution on both lymphoid and myeloid cells, the biological role of the low-affinity immunoglobulin-G receptor, Fc gamma RII, is not fully understood. Defects in this receptor or its signalling pathway in B cells result in perturbations in immune-complex-mediated feedback inhibition of antib...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/379346a0
更新日期：1996-01-25 00:00:00
abstract：:When we reach towards an object that suddenly appears in our peripheral visual field, not only does our arm extend towards the object, but our eyes, head and body also move in such a way that the image of the object falls on the fovea. Popular models of how reaching movements are programmed have argued that while the ...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/320748a0
更新日期：1986-04-24 00:00:00
abstract：:Transport of calcium ions across membranes and against a thermodynamic gradient is essential to many biological processes, including muscle contraction, the citric acid cycle, glycogen metabolism, release of neurotransmitters, vision, biological signal transduction and immune response. Synthetic systems that transport...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature01209
更新日期：2002-11-28 00:00:00
abstract：:An increase in free calcium triggers catecholamine secretion from chromaffin cells and calmodulin is strongly implicated as the intracellular Ca2+ receptor. In our recent studies of calmodulin action in the chromaffin cell, micromolar Ca2+ concentrations resulted in calmodulin and cytosolic proteins becoming bound to ...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/301432a0
更新日期：1983-02-03 00:00:00
abstract：:Spinocerebellar ataxia type 1 (SCA1) is one of several neurodegenerative disorders caused by an expansion of a polyglutamine tract. It is characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells. To understand the pathogenesis of SCA1, we examined the subcellular localization of ...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/40153
更新日期：1997-10-30 00:00:00
abstract：:Histones package DNA, and post-translational modifications of histones can regulate access to DNA. Until recently, histone methylation-unlike all other histone modifications-was considered a permanent mark. The discovery of enzymes that reverse the methylation of lysines and arginines challenges our current thinking o...
journal_title：Nature
pub_type： 杂志文章,评审
doi：10.1038/nature04048
更新日期：2005-08-25 00:00:00
abstract：:Somatic mutations in the small GTPase K-Ras are the most common activating lesions found in human cancer, and are generally associated with poor response to standard therapies. Efforts to target this oncogene directly have faced difficulties owing to its picomolar affinity for GTP/GDP and the absence of known alloster...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature12796
更新日期：2013-11-28 00:00:00
abstract：:Alternative splicing of eukaryotic messenger RNA precursors is now known to be of widespread importance in generating multiple transcripts from a single gene. This phenomenon has emphasized the problem of the way in which splice sites are selected; recent studies have discussed the role of secondary structure or affin...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/324280a0
更新日期：1986-11-20 00:00:00
abstract：:Cytochrome c oxidase is a member of the haem copper oxidase superfamily (HCO). HCOs function as the terminal enzymes in the respiratory chain of mitochondria and aerobic prokaryotes, coupling molecular oxygen reduction to transmembrane proton pumping. Integral to the enzyme's function is the transfer of electrons from...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature11182
更新日期：2012-07-26 00:00:00
abstract：:Understanding the behaviour of the dielectric constant in ferroelectric thin films remains a challenging problem. These ferroelectric materials have high static dielectric constants, and so are important for their applications in high-storage-density capacitor structures such as dynamic random access memory (DRAM). Bu...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/35006023
更新日期：2000-03-23 00:00:00
abstract：:Landscapes modified by glacial erosion show a distinct distribution of surface area with elevation (hypsometry). In particular, the height of these regions is influenced by climatic gradients controlling the altitude where glacial and periglacial processes are the most active, and as a result, surface area is focused ...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature11786
更新日期：2013-01-10 00:00:00
abstract：:Certain mast cell products, including the tetrapeptides Ala-Gly-Ser-Glu (Ala4) and Val-Gly-Ser-Glu (Val4) of the eosinophil chemotactic factor of anaphylaxis (ECF-A) and histamine, are preferentially chemotactic for eosinophils in vitro. Amino acid substitutions or modifications of the ECF-A tetrapeptides may substant...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/289071a0
更新日期：1981-01-01 00:00:00
abstract：:Complement-mediated inflammation exacerbates the tissue injury of ischaemic necrosis in heart attacks and strokes, the most common causes of death in developed countries. Large infarct size increases immediate morbidity and mortality and, in survivors of the acute event, larger non-functional scars adversely affect lo...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature04672
更新日期：2006-04-27 00:00:00
abstract：:In the Methods section of this Article, 'greater than' should have been 'less than' in the sentence 'Putative regions of clustered rearrangements were identified as having an average inter-rearrangement distance that was at least 10 times greater than the whole-genome average for the individual sample. '. The Article ...
journal_title：Nature
pub_type： 杂志文章,已发布勘误
doi：10.1038/s41586-019-0883-2
更新日期：2019-02-01 00:00:00
abstract：:Shiga toxin and some other protein toxins that act on targets in the cytosol have previously been shown to enter the trans-Golgi network. Transport by this route may be necessary for translocation of the toxin to the cytosol and for intoxication, but it is not known whether the enzymatically active part of the toxins ...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/358510a0
更新日期：1992-08-06 00:00:00
abstract：:During development, sympathetic neurons extend axons along a myriad of distinct trajectories, often consisting of arteries, to innervate one of a large variety of distinct final target tissues. Whether or not subsets of neurons within complex sympathetic ganglia are predetermined to innervate select end-organs is unkn...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature06859
更新日期：2008-04-10 00:00:00
abstract：:Integral membrane proteins are encoded by approximately 25% of all protein-coding genes1. In eukaryotes, the majority of membrane proteins are inserted, modified and folded at the endoplasmic reticulum (ER)2. Research over the past several decades has determined how membrane proteins are targeted to the ER and how ind...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/s41586-020-2624-y
更新日期：2020-08-01 00:00:00
abstract：:Defects in the architecture or integrity of the nuclear envelope are associated with a variety of human diseases1. Micronuclei, one common nuclear aberration, are an origin for chromothripsis2, a catastrophic mutational process that is commonly observed in cancer3-5. Chromothripsis occurs after micronuclei spontaneous...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/s41586-018-0534-z
更新日期：2018-09-01 00:00:00
abstract：:DNA sequences containing the 5'-flanking regions of the insulin and chymotrypsin genes were linked to the coding sequence of the chloramphenicol acetyltransferase (CAT) gene. The insulin gene recombinant elicits preferential expression of CAT activity when introduced into cells producing insulin; similarly, the chymot...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/306557a0
更新日期：1983-12-08 00:00:00
abstract：:A long-standing problem in managing the behaviour of a collection of solid grains concerns the nature of the grain packing, a property that is typically controlled by how the grains are poured or shaken. Here we show that a systematic and controllable increase in granular packing can be induced by simply raising and t...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/442257a
更新日期：2006-07-20 00:00:00
abstract：:Substrates of the proteasome are recognized and unfolded by the regulatory particle, and then translocated into the core particle (CP) to be degraded. A hetero-hexameric ATPase ring, containing subunits Rpt1-6, is situated within the base subassembly of the regulatory particle. The ATPase ring sits atop the CP, with t...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature08065
更新日期：2009-06-11 00:00:00
abstract：:Ultrathin ferroelectric materials could potentially enable low-power perovskite ferroelectric tetragonality logic and nonvolatile memories1,2. As ferroelectric materials are made thinner, however, the ferroelectricity is usually suppressed. Size effects in ferroelectrics have been thoroughly investigated in perovskite...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/s41586-020-2208-x
更新日期：2020-04-01 00:00:00
abstract：:Humans are able to classify novel items correctly by category; some other animals have also been shown to do this. During category learning, humans group perceptual stimuli by abstracting qualities from similarity relationships of their physical properties. Forming categories is fundamental to cognition and can be ind...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/35089076
更新日期：2001-08-16 00:00:00
abstract：:In animals, maternal gene products deposited into eggs regulate embryonic development before activation of the zygotic genome. In plants, an analogous period of prolonged maternal control over embryogenesis is thought to occur based on some gene-expression studies. However, other gene-expression studies and genetic an...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature10756
更新日期：2012-01-22 00:00:00
abstract：:Chemotaxis in Caenorhabditis elegans, like chemotaxis in bacteria, involves a random walk biased by the time derivative of attractant concentration, but how the derivative is computed is unknown. Laser ablations have shown that the strongest deficits in chemotaxis to salts are obtained when the ASE chemosensory neuron...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature06927
更新日期：2008-07-03 00:00:00
abstract：:The three-dimensional structure of the ligand-binding region of human E-selectin has been determined at 2.0 A resolution. The structure reveals limited contact between the two domains and a coordination of Ca2+ not predicted from other C-type lectins. Structure/function analysis indicates a defined region and specific...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/367532a0
更新日期：1994-02-10 00:00:00
abstract：:Dengue disease is caused by four different flavivirus serotypes, which infect 390 million people yearly with 25% symptomatic cases and for which no licensed vaccine is available. Recent phase III vaccine trials showed partial protection, and in particular no protection for dengue virus serotype 2 (refs 3, 4). Structur...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature14130
更新日期：2015-04-02 00:00:00
abstract：:Nerve growth factor (NGF) activity was not detected by bioassay in irides killed immediately after excision but NGF appeared within 24 h in living irides placed in culture or grafted to a host eye. Furthermore, sensory and, although less effective, sympathetic denervation of irides in situ led within 10 days to the ap...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/286025a0
更新日期：1980-07-03 00:00:00
abstract：:The clinical development of an inhibitor of cellular proteasome function suggests that compounds targeting other components of the ubiquitin-proteasome system might prove useful for the treatment of human malignancies. NEDD8-activating enzyme (NAE) is an essential component of the NEDD8 conjugation pathway that contro...
journal_title：Nature
pub_type： 杂志文章
doi：10.1038/nature07884
更新日期：2009-04-09 00:00:00
