排序方式: 共有44条查询结果,搜索用时 15 毫秒
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Lambrechts D Storkebaum E Morimoto M Del-Favero J Desmet F Marklund SL Wyns S Thijs V Andersson J van Marion I Al-Chalabi A Bornes S Musson R Hansen V Beckman L Adolfsson R Pall HS Prats H Vermeire S Rutgeerts P Katayama S Awata T Leigh N Lang-Lazdunski L Dewerchin M Shaw C Moons L Vlietinck R Morrison KE Robberecht W Van Broeckhoven C Collen D Andersen PM Carmeliet P 《Nature genetics》2003,34(4):383-394
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Mutations in SEPT9 cause hereditary neuralgic amyotrophy 总被引:7,自引:0,他引:7
Kuhlenbäumer G Hannibal MC Nelis E Schirmacher A Verpoorten N Meuleman J Watts GD De Vriendt E Young P Stögbauer F Halfter H Irobi J Goossens D Del-Favero J Betz BG Hor H Kurlemann G Bird TD Airaksinen E Mononen T Serradell AP Prats JM Van Broeckhoven C De Jonghe P Timmerman V Ringelstein EB Chance PF 《Nature genetics》2005,37(10):1044-1046
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis. 相似文献
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Chiaverini J Leibfried D Schaetz T Barrett MD Blakestad RB Britton J Itano WM Jost JD Knill E Langer C Ozeri R Wineland DJ 《Nature》2004,432(7017):602-605
Scalable quantum computation and communication require error control to protect quantum information against unavoidable noise. Quantum error correction protects information stored in two-level quantum systems (qubits) by rectifying errors with operations conditioned on the measurement outcomes. Error-correction protocols have been implemented in nuclear magnetic resonance experiments, but the inherent limitations of this technique prevent its application to quantum information processing. Here we experimentally demonstrate quantum error correction using three beryllium atomic-ion qubits confined to a linear, multi-zone trap. An encoded one-qubit state is protected against spin-flip errors by means of a three-qubit quantum error-correcting code. A primary ion qubit is prepared in an initial state, which is then encoded into an entangled state of three physical qubits (the primary and two ancilla qubits). Errors are induced simultaneously in all qubits at various rates. The encoded state is decoded back to the primary ion one-qubit state, making error information available on the ancilla ions, which are separated from the primary ion and measured. Finally, the primary qubit state is corrected on the basis of the ancillae measurement outcome. We verify error correction by comparing the corrected final state to the uncorrected state and to the initial state. In principle, the approach enables a quantum state to be maintained by means of repeated error correction, an important step towards scalable fault-tolerant quantum computation using trapped ions. 相似文献
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Marin MC Jost CA Brooks LA Irwin MS O'Nions J Tidy JA James N McGregor JM Harwood CA Yulug IG Vousden KH Allday MJ Gusterson B Ikawa S Hinds PW Crook T Kaelin WG 《Nature genetics》2000,25(1):47-54
The p73 protein, a homologue of the tumour-suppressor protein p53, can activate p53-responsive promoters and induce apoptosis in p53-deficient cells. Here we report that some tumour-derived p53 mutants can bind to and inactivate p73. The binding of such mutants is influenced by whether TP53 (encoding p53) codon 72, by virtue of a common polymorphism in the human population, encodes Arg or Pro. The ability of mutant p53 to bind p73, neutralize p73-induced apoptosis and transform cells in cooperation with EJ-Ras was enhanced when codon 72 encoded Arg. We found that the Arg-containing allele was preferentially mutated and retained in squamous cell tumours arising in Arg/Pro germline heterozygotes. Thus, inactivation of p53 family members may contribute to the biological properties of a subset of p53 mutants, and a polymorphic residue within p53 affects mutant behaviour. 相似文献
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Aulchenko YS Hoppenbrouwers IA Ramagopalan SV Broer L Jafari N Hillert J Link J Lundström W Greiner E Dessa Sadovnick A Goossens D Van Broeckhoven C Del-Favero J Ebers GC Oostra BA van Duijn CM Hintzen RQ 《Nature genetics》2008,40(12):1402-1403
The few loci associated with multiple sclerosis (MS) are all related to immune function. We report a GWA study identifying a new locus replicated in 2,679 cases and 3,125 controls. An rs10492972[C] variant located in the KIF1B gene was associated with MS with an odds ratio of 1.35 (P = 2.5 x 10(-10)). KIF1B is a neuronally expressed gene plausibly implicated in the irreversible axonal loss characterizing MS in the long term. 相似文献
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Chernobyl fallout in size-fractionated aerosol 总被引:1,自引:0,他引:1