排序方式: 共有9条查询结果,搜索用时 15 毫秒
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Bejaoui K Wu C Scheffler MD Haan G Ashby P Wu L de Jong P Brown RH 《Nature genetics》2001,27(3):261-262
Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2-4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1. 相似文献
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Affinity Solvents for Intensified Organics Extraction: Development Challenges and Prospects 总被引:1,自引:0,他引:1
André B. de Haan 《清华大学学报》2006,11(2):171-180
Introduction In contrast to inorganics and metals processing, most organics extraction processes use classical organic sol-vents that utilize physical interactions with the solutes of interest to achieve the desired separation[1]. Clear examples are the e… 相似文献
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André B.de Haan 《清华大学学报》2006,11(2):222-227
Introduction Oxygenates like carboxylic acids, aldehydes/ketones, and alcohols are often present in less than 10 wt.% concentrations in apolar organic solvents from which they are industrially recovered by a highly energy-consuming distillation in which t… 相似文献
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M McDonald M Bayliss BA Benson RJ Foley J Ruel P Sullivan S Veilleux KA Aird ML Ashby M Bautz G Bazin LE Bleem M Brodwin JE Carlstrom CL Chang HM Cho A Clocchiatti TM Crawford AT Crites T de Haan S Desai MA Dobbs JP Dudley E Egami WR Forman GP Garmire EM George MD Gladders AH Gonzalez NW Halverson NL Harrington FW High GP Holder WL Holzapfel S Hoover JD Hrubes C Jones M Joy R Keisler L Knox AT Lee EM Leitch J Liu M Lueker D Luong-Van A Mantz DP Marrone JJ McMahon J Mehl SS Meyer ED Miller 《Nature》2012,488(7411):349-352
In the cores of some clusters of galaxies the hot intracluster plasma is dense enough that it should cool radiatively in the cluster's lifetime, leading to continuous 'cooling flows' of gas sinking towards the cluster centre, yet no such cooling flow has been observed. The low observed star-formation rates and cool gas masses for these 'cool-core' clusters suggest that much of the cooling must be offset by feedback to prevent the formation of a runaway cooling flow. Here we report X-ray, optical and infrared observations of the galaxy cluster SPT-CLJ2344-4243 (ref. 11) at redshift z = 0.596. These observations reveal an exceptionally luminous (8.2?×?10(45)?erg?s(-1)) galaxy cluster that hosts an extremely strong cooling flow (around 3,820 solar masses a year). Further, the central galaxy in this cluster appears to be experiencing a massive starburst (formation of around 740 solar masses a year), which suggests that the feedback source responsible for preventing runaway cooling in nearby cool-core clusters may not yet be fully established in SPT-CLJ2344-4243. This large star-formation rate implies that a significant fraction of the stars in the central galaxy of this cluster may form through accretion of the intracluster medium, rather than (as is currently thought) assembling entirely via mergers. 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
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EL Heinzen KJ Swoboda Y Hitomi F Gurrieri S Nicole B de Vries FD Tiziano B Fontaine NM Walley S Heavin E Panagiotakaki;European Alternating Hemiplegia of Childhood 《Nature genetics》2012,44(9):1030-1034
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals. In a subsequent sequence analysis of ATP1A3 in 98 other patients with AHC, we found that ATP1A3 mutations were likely to be responsible for at least 74% of the cases; we also identified one inherited mutation in a case of familial AHC. Notably, most AHC cases are caused by one of seven recurrent ATP1A3 mutations, one of which was observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism, AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression. This work identifies de novo ATP1A3 mutations as the primary cause of AHC and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3. 相似文献
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Richards A van den Maagdenberg AM Jen JC Kavanagh D Bertram P Spitzer D Liszewski MK Barilla-Labarca ML Terwindt GM Kasai Y McLellan M Grand MG Vanmolkot KR de Vries B Wan J Kane MJ Mamsa H Schäfer R Stam AH Haan J de Jong PT Storimans CW van Schooneveld MJ Oosterhuis JA Gschwendter A Dichgans M Kotschet KE Hodgkinson S Hardy TA Delatycki MB Hajj-Ali RA Kothari PH Nelson SF Frants RR Baloh RW Ferrari MD Atkinson JP 《Nature genetics》2007,39(9):1068-1070
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias. 相似文献
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