排序方式: 共有40条查询结果,搜索用时 15 毫秒
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Kornak U Reynders E Dimopoulou A van Reeuwijk J Fischer B Rajab A Budde B Nürnberg P Foulquier F;ARCL Debré-type Study Group Lefeber D Urban Z Gruenewald S Annaert W Brunner HG van Bokhoven H Wevers R Morava E Matthijs G Van Maldergem L Mundlos S 《Nature genetics》2008,40(1):32-34
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function. 相似文献
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Enterotypes of the human gut microbiome 总被引:6,自引:0,他引:6
Arumugam M Raes J Pelletier E Le Paslier D Yamada T Mende DR Fernandes GR Tap J Bruls T Batto JM Bertalan M Borruel N Casellas F Fernandez L Gautier L Hansen T Hattori M Hayashi T Kleerebezem M Kurokawa K Leclerc M Levenez F Manichanh C Nielsen HB Nielsen T Pons N Poulain J Qin J Sicheritz-Ponten T Tims S Torrents D Ugarte E Zoetendal EG Wang J Guarner F Pedersen O de Vos WM Brunak S Doré J;MetaHIT Consortium Antolín M Artiguenave F Blottiere HM Almeida M Brechot C Cara C Chervaux C Cultrone A 《Nature》2011,473(7346):174-180
Our knowledge of species and functional composition of the human gut microbiome is rapidly increasing, but it is still based on very few cohorts and little is known about variation across the world. By combining 22 newly sequenced faecal metagenomes of individuals from four countries with previously published data sets, here we identify three robust clusters (referred to as enterotypes hereafter) that are not nation or continent specific. We also confirmed the enterotypes in two published, larger cohorts, indicating that intestinal microbiota variation is generally stratified, not continuous. This indicates further the existence of a limited number of well-balanced host-microbial symbiotic states that might respond differently to diet and drug intake. The enterotypes are mostly driven by species composition, but abundant molecular functions are not necessarily provided by abundant species, highlighting the importance of a functional analysis to understand microbial communities. Although individual host properties such as body mass index, age, or gender cannot explain the observed enterotypes, data-driven marker genes or functional modules can be identified for each of these host properties. For example, twelve genes significantly correlate with age and three functional modules with the body mass index, hinting at a diagnostic potential of microbial markers. 相似文献
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Plant degradation: a nematode expansin acting on plants 总被引:3,自引:0,他引:3
Qin L Kudla U Roze EH Goverse A Popeijus H Nieuwland J Overmars H Jones JT Schots A Smant G Bakker J Helder J 《Nature》2004,427(6969):30
Expansin proteins, which have so far been identified only in plants, rapidly induce extension of plant cell walls by weakening the non-covalent interactions that help to maintain their integrity. Here we show that an animal, the plant-parasitic roundworm Globodera rostochiensis, can also produce a functional expansin, which it uses to loosen cell walls when invading its host plant. As this nematode is known to be able to disrupt covalent bonds in plant cell walls, its accompanying ability to loosen non-covalent bonds challenges the prevailing view that animals are genetically poorly equipped to degrade plant cell walls. 相似文献
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Bruce LJ Robinson HC Guizouarn H Borgese F Harrison P King MJ Goede JS Coles SE Gore DM Lutz HU Ficarella R Layton DM Iolascon A Ellory JC Stewart GW 《Nature genetics》2005,37(11):1258-1263
We identified 11 human pedigrees with dominantly inherited hemolytic anemias in both the hereditary stomatocytosis and spherocytosis classes. Affected individuals in these families had an increase in membrane permeability to Na and K that is particularly marked at 0 degrees C. We found that disease in these pedigrees was associated with a series of single amino-acid substitutions in the intramembrane domain of the erythrocyte band 3 anion exchanger, AE1. Anion movements were reduced in the abnormal red cells. The 'leak' cation fluxes were inhibited by SITS, dipyridamole and NS1652, chemically diverse inhibitors of band 3. Expression of the mutated genes in Xenopus laevis oocytes induced abnormal Na and K fluxes in the oocytes, and the induced Cl transport was low. These data are consistent with the suggestion that the substitutions convert the protein from an anion exchanger into an unregulated cation channel. 相似文献
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Williams ES Stap J Essers J Ponnaiya B Luijsterburg MS Krawczyk PM Ullrich RL Aten JA Bailey SM 《Nature genetics》2007,39(6):696-8; author reply 698-9
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Gontan C Achame EM Demmers J Barakat TS Rentmeester E van IJcken W Grootegoed JA Gribnau J 《Nature》2012,485(7398):386-390
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Jeroen Middelbeek Kristopher Clark Hanka Venselaar Martijn A. Huynen Frank N. van Leeuwen 《Cellular and molecular life sciences : CMLS》2010,67(6):875-890
The alpha-kinase family represents a class of atypical protein kinases that display little sequence similarity to conventional
protein kinases. Early studies on myosin heavy chain kinases in Dictyostelium discoideum revealed their unusual propensity to phosphorylate serine and threonine residues in the context of an alpha-helix. Although
recent studies show that some members of this family can also phosphorylate residues in non-helical regions, the name alpha-kinase
has remained. During evolution, the alpha-kinase domains combined with many different functional subdomains such as von Willebrand
factor-like motifs (vWKa) and even cation channels (TRPM6 and TRPM7). As a result, these kinases are implicated in a large
variety of cellular processes such as protein translation, Mg2+ homeostasis, intracellular transport, cell migration, adhesion, and proliferation. Here, we review the current state of knowledge
on different members of this kinase family and discuss the potential use of alpha-kinases as drug targets in diseases such
as cancer. 相似文献
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