排序方式: 共有14条查询结果,搜索用时 293 毫秒
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Roscioli T Kamsteeg EJ Buysse K Maystadt I van Reeuwijk J van den Elzen C van Beusekom E Riemersma M Pfundt R Vissers LE Schraders M Altunoglu U Buckley MF Brunner HG Grisart B Zhou H Veltman JA Gilissen C Mancini GM Delrée P Willemsen MA Ramadža DP Chitayat D Bennett C Sheridan E Peeters EA Tan-Sindhunata GM de Die-Smulders CE Devriendt K Kayserili H El-Hashash OA Stemple DL Lefeber DJ Lin YY van Bokhoven H 《Nature genetics》2012,44(5):581-585
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates. 相似文献
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图谱当然以图为主,图的选择要精良,不但要显示出正常组织和病理改变的特征,而且最好还能提示这种改变的发生机制。此外,若尚有“余地”的话,除了显示常见的典型结构(无论正常的或是病理的)之外,最好同时展现一点“罕见”的变异之处。若能做到上述要求,则这种图谱是一种“活图谱”而非“死图谱”了。 相似文献
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Å. Bertler A. Carlsson Margit Lindqvist T. Magnusson 《Cellular and molecular life sciences : CMLS》1958,14(5):184-185
Zusammenfassung Stimulation des sympathicoadrenalen Systems der atropinisierten Katze mit Carbacholin ergab signifikante Mengen von Adrenalin und Noradrenalin im Blutplasma. Bei intakter Nebenniere dominierte Adrenalin, nach Adrenalektomie Noradrenalin. Die Freisetzung von Adrenalin oder Noradrenalin unterblieb bei mit Reserpin vorbehandelten adrenalektomierten Tieren. 相似文献
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Loftus B Anderson I Davies R Alsmark UC Samuelson J Amedeo P Roncaglia P Berriman M Hirt RP Mann BJ Nozaki T Suh B Pop M Duchene M Ackers J Tannich E Leippe M Hofer M Bruchhaus I Willhoeft U Bhattacharya A Chillingworth T Churcher C Hance Z Harris B Harris D Jagels K Moule S Mungall K Ormond D Squares R Whitehead S Quail MA Rabbinowitsch E Norbertczak H Price C Wang Z Guillén N Gilchrist C Stroup SE Bhattacharya S Lohia A Foster PG Sicheritz-Ponten T Weber C Singh U Mukherjee C El-Sayed NM 《Nature》2005,433(7028):865-868
Entamoeba histolytica is an intestinal parasite and the causative agent of amoebiasis, which is a significant source of morbidity and mortality in developing countries. Here we present the genome of E. histolytica, which reveals a variety of metabolic adaptations shared with two other amitochondrial protist pathogens: Giardia lamblia and Trichomonas vaginalis. These adaptations include reduction or elimination of most mitochondrial metabolic pathways and the use of oxidative stress enzymes generally associated with anaerobic prokaryotes. Phylogenomic analysis identifies evidence for lateral gene transfer of bacterial genes into the E. histolytica genome, the effects of which centre on expanding aspects of E. histolytica's metabolic repertoire. The presence of these genes and the potential for novel metabolic pathways in E. histolytica may allow for the development of new chemotherapeutic agents. The genome encodes a large number of novel receptor kinases and contains expansions of a variety of gene families, including those associated with virulence. Additional genome features include an abundance of tandemly repeated transfer-RNA-containing arrays, which may have a structural function in the genome. Analysis of the genome provides new insights into the workings and genome evolution of a major human pathogen. 相似文献
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Schnadt J Brühwiler PA Patthey L O'Shea JN Södergren S Odelius M Ahuja R Karis O Bässler M Persson P Siegbahn H Lunell S Mårtensson N 《Nature》2002,418(6898):620-623
The ultrafast timescale of electron transfer processes is crucial to their role in many biological systems and technological devices. In dye-sensitized solar cells, the electron transfer from photo-excited dye molecules to nanostructured semiconductor substrates needs to be sufficiently fast to compete effectively against loss processes and thus achieve high solar energy conversion efficiencies. Time-resolved laser techniques indicate an upper limit of 20 to 100 femtoseconds for the time needed to inject an electron from a dye into a semiconductor, which corresponds to the timescale on which competing processes such as charge redistribution and intramolecular thermalization of excited states occur. Here we use resonant photoemission spectroscopy, which has previously been used to monitor electron transfer in simple systems with an order-of-magnitude improvement in time resolution, to show that electron transfer from an aromatic adsorbate to a TiO(2) semiconductor surface can occur in less than 3 fs. These results directly confirm that electronic coupling of the aromatic molecule to its substrate is sufficiently strong to suppress competing processes. 相似文献
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Scuoppo C Miething C Lindqvist L Reyes J Ruse C Appelmann I Yoon S Krasnitz A Teruya-Feldstein J Pappin D Pelletier J Lowe SW 《Nature》2012,487(7406):244-248
Tumour suppressor genes encode a broad class of molecules whose mutational attenuation contributes to malignant progression. In the canonical situation, the tumour suppressor is completely inactivated through a two-hit process involving a point mutation in one allele and chromosomal deletion of the other. Here, to identify tumour suppressor genes in lymphoma, we screen a short hairpin RNA library targeting genes deleted in human lymphomas. We functionally identify those genes whose suppression promotes tumorigenesis in a mouse lymphoma model. Of the nine tumour suppressors we identified, eight correspond to genes occurring in three physically linked 'clusters', suggesting that the common occurrence of large chromosomal deletions in human tumours reflects selective pressure to attenuate multiple genes. Among the new tumour suppressors are adenosylmethionine decarboxylase 1 (AMD1) and eukaryotic translation initiation factor 5A (eIF5A), two genes associated with hypusine, a unique amino acid produced as a product of polyamine metabolism through a highly conserved pathway. Through a secondary screen surveying the impact of all polyamine enzymes on tumorigenesis, we establish the polyamine-hypusine axis as a new tumour suppressor network regulating apoptosis. Unexpectedly, heterozygous deletions encompassing AMD1 and eIF5A often occur together in human lymphomas and co-suppression of both genes promotes lymphomagenesis in mice. Thus, some tumour suppressor functions can be disabled through a two-step process targeting different genes acting in the same pathway. 相似文献
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Churchill GA Airey DC Allayee H Angel JM Attie AD Beatty J Beavis WD Belknap JK Bennett B Berrettini W Bleich A Bogue M Broman KW Buck KJ Buckler E Burmeister M Chesler EJ Cheverud JM Clapcote S Cook MN Cox RD Crabbe JC Crusio WE Darvasi A Deschepper CF Doerge RW Farber CR Forejt J Gaile D Garlow SJ Geiger H Gershenfeld H Gordon T Gu J Gu W de Haan G Hayes NL Heller C Himmelbauer H Hitzemann R Hunter K Hsu HC Iraqi FA Ivandic B Jacob HJ Jansen RC Jepsen KJ Johnson DK Johnson TE Kempermann G 《Nature genetics》2004,36(11):1133-1137
The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for studying intact polygenic networks and interactions among genes, environments, pathogens and other factors. The Collaborative Cross will provide a common reference panel specifically designed for the integrative analysis of complex systems and will change the way we approach human health and disease. 相似文献