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51.
Sarah Deutsch 《Cellular and molecular life sciences : CMLS》1957,13(8):309-311
Summary By a quantitative study of pleochroic haloes in biotite, the haloe age of the Lausitz granodiorite, in comparison with the
granite age of the Elba Isle, was estimated to 280±150 M.Y. The granodiorite is either caledonian or hercynian.
Attachée à l'Institut Interuniversitaire des Sciences Nucléaires. 相似文献
Attachée à l'Institut Interuniversitaire des Sciences Nucléaires. 相似文献
52.
Clayton DG Walker NM Smyth DJ Pask R Cooper JD Maier LM Smink LJ Lam AC Ovington NR Stevens HE Nutland S Howson JM Faham M Moorhead M Jones HB Falkowski M Hardenbol P Willis TD Todd JA 《Nature genetics》2005,37(11):1243-1246
The main problems in drawing causal inferences from epidemiological case-control studies are confounding by unmeasured extraneous factors, selection bias and differential misclassification of exposure. In genetics the first of these, in the form of population structure, has dominated recent debate. Population structure explained part of the significant +11.2% inflation of test statistics we observed in an analysis of 6,322 nonsynonymous SNPs in 816 cases of type 1 diabetes and 877 population-based controls from Great Britain. The remainder of the inflation resulted from differential bias in genotype scoring between case and control DNA samples, which originated from two laboratories, causing false-positive associations. To avoid excluding SNPs and losing valuable information, we extended the genomic control method by applying a variable downweighting to each SNP. 相似文献
53.
Batourina E Tsai S Lambert S Sprenkle P Viana R Dutta S Hensle T Wang F Niederreither K McMahon AP Carroll TJ Mendelsohn CL 《Nature genetics》2005,37(10):1082-1089
Removal of toxic substances from the blood depends on patent connections between the kidney, ureters and bladder that are established when the ureter is transposed from its original insertion site in the male genital tract to the bladder. This transposition is thought to occur as the trigone forms from the common nephric duct and incorporates into the bladder. Here we re-examine this model in the context of normal and abnormal development. We show that the common nephric duct does not differentiate into the trigone but instead undergoes apoptosis, a crucial step for ureter transposition controlled by vitamin A-induced signals from the primitive bladder. Ureter abnormalities occur in 1-2% of the human population and can cause obstruction and end-stage renal disease. These studies provide an explanation for ureter defects underlying some forms of obstruction in humans and redefine the current model of ureter maturation. 相似文献
54.
55.
56.
Sarah Deutsch D. Hirschberg E. Picciotto 《Cellular and molecular life sciences : CMLS》1955,11(5):172-174
Summary In this preliminary work, the possibility of dating crystalline rocks by pleochroic haloes has been studied.Halo-microphotometry has been combined with measurement of the alpha-activity of the inclusions by the photographic method.Standard thin sections of well dated granites have been used for calibration purposes. The reciprocity law is shown to be valid within the limit of error. The resolving power of this method depends essentially on the age ratio. Tertiary and primary rocks are easily separated. 相似文献
57.
58.
Schmeisser MJ Ey E Wegener S Bockmann J Stempel AV Kuebler A Janssen AL Udvardi PT Shiban E Spilker C Balschun D Skryabin BV Dieck St Smalla KH Montag D Leblond CS Faure P Torquet N Le Sourd AM Toro R Grabrucker AM Shoichet SA Schmitz D Kreutz MR Bourgeron T Gundelfinger ED Boeckers TM 《Nature》2012,486(7402):256-260
Autism spectrum disorders comprise a range of neurodevelopmental disorders characterized by deficits in social interaction and communication, and by repetitive behaviour. Mutations in synaptic proteins such as neuroligins, neurexins, GKAPs/SAPAPs and ProSAPs/Shanks were identified in patients with autism spectrum disorder, but the causative mechanisms remain largely unknown. ProSAPs/Shanks build large homo- and heteromeric protein complexes at excitatory synapses and organize the complex protein machinery of the postsynaptic density in a laminar fashion. Here we demonstrate that genetic deletion of ProSAP1/Shank2 results in an early, brain-region-specific upregulation of ionotropic glutamate receptors at the synapse and increased levels of ProSAP2/Shank3. Moreover, ProSAP1/Shank2(-/-) mutants exhibit fewer dendritic spines and show reduced basal synaptic transmission, a reduced frequency of miniature excitatory postsynaptic currents and enhanced N-methyl-d-aspartate receptor-mediated excitatory currents at the physiological level. Mutants are extremely hyperactive and display profound autistic-like behavioural alterations including repetitive grooming as well as abnormalities in vocal and social behaviours. By comparing the data on ProSAP1/Shank2(-/-) mutants with ProSAP2/Shank3αβ(-/-) mice, we show that different abnormalities in synaptic glutamate receptor expression can cause alterations in social interactions and communication. Accordingly, we propose that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype. 相似文献
59.
A phosphatase complex that dephosphorylates gammaH2AX regulates DNA damage checkpoint recovery 总被引:1,自引:0,他引:1
Keogh MC Kim JA Downey M Fillingham J Chowdhury D Harrison JC Onishi M Datta N Galicia S Emili A Lieberman J Shen X Buratowski S Haber JE Durocher D Greenblatt JF Krogan NJ 《Nature》2006,439(7075):497-501
One of the earliest marks of a double-strand break (DSB) in eukaryotes is serine phosphorylation of the histone variant H2AX at the carboxy-terminal SQE motif to create gammaH2AX-containing nucleosomes. Budding-yeast histone H2A is phosphorylated in a similar manner by the checkpoint kinases Tel1 and Mec1 (ref. 2; orthologous to mammalian ATM and ATR, respectively) over a 50-kilobase region surrounding the DSB. This modification is important for recruiting numerous DSB-recognition and repair factors to the break site, including DNA damage checkpoint proteins, chromatin remodellers and cohesins. Multiple mechanisms for eliminating gammaH2AX as DNA repair completes are possible, including removal by histone exchange followed potentially by degradation, or, alternatively, dephosphorylation. Here we describe a three-protein complex (HTP-C, for histone H2A phosphatase complex) containing the phosphatase Pph3 that regulates the phosphorylation status of gammaH2AX in vivo and efficiently dephosphorylates gammaH2AX in vitro. gammaH2AX is lost from chromatin surrounding a DSB independently of the HTP-C, indicating that the phosphatase targets gammaH2AX after its displacement from DNA. The dephosphorylation of gammaH2AX by the HTP-C is necessary for efficient recovery from the DNA damage checkpoint. 相似文献
60.
Zody MC Garber M Sharpe T Young SK Rowen L O'Neill K Whittaker CA Kamal M Chang JL Cuomo CA Dewar K FitzGerald MG Kodira CD Madan A Qin S Yang X Abbasi N Abouelleil A Arachchi HM Baradarani L Birditt B Bloom S Bloom T Borowsky ML Burke J Butler J Cook A DeArellano K DeCaprio D Dorris L Dors M Eichler EE Engels R Fahey J Fleetwood P Friedman C Gearin G Hall JL Hensley G Johnson E Jones C Kamat A Kaur A Locke DP Madan A Munson G Jaffe DB Lui A Macdonald P Mauceli E Naylor JW Nesbitt R Nicol R 《Nature》2006,440(7084):671-675
Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome. 相似文献