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91.
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes 总被引:25,自引:0,他引:25
Kondo S Schutte BC Richardson RJ Bjork BC Knight AS Watanabe Y Howard E de Lima RL Daack-Hirsch S Sander A McDonald-McGinn DM Zackai EH Lammer EJ Aylsworth AS Ardinger HH Lidral AC Pober BR Moreno L Arcos-Burgos M Valencia C Houdayer C Bahuau M Moretti-Ferreira D Richieri-Costa A Dixon MJ Murray JC 《Nature genetics》2002,32(2):285-289
92.
Penha Maria Cardoso Dias Simone Pinheiro Pinto Deisemar Hollanda Cassiano 《Archive for History of Exact Sciences》1995,49(2):135-161
Summary Among many other things, Carnot stated a principle and proved a theorem. In 1850, Clausius corrected Carnot's theory, modifying it according to Joule's principle. He might have considered a corollary of the theorem as the mathematical formulation of Carnot's principle. We challenge the corollary: it is based on hidden assumptions, nor is it true for all cycles. Clausius realized the corollary's lack of generality, but on different grounds. In 1854, he generalized the theorem, and gave an (other) expression to Carnot's principle. We analyze Clapeyron's account of Carnot's theory, Thomson's account of 1849 and some of Clausius belated comments on his 1850 paper, as well Clausius' paper of 1854. We hope that they shed light on the corollary's tacit hypotheses and on the meaning of Carnot's principle. It is our contention: Clausius took seriously a contemporary meaning of the principle, and looked for a condition of integrability that could express recovery of the initial conditions of the reservoirs. Furthermore, he seems to have had some prior knowledge of the form the expression of the principle should take. Actually, this was the theory's natural candidate. 相似文献
93.
94.
Dumitrescu AM Liao XH Abdullah MS Lado-Abeal J Majed FA Moeller LC Boran G Schomburg L Weiss RE Refetoff S 《Nature genetics》2005,37(11):1247-1252
Incorporation of selenocysteine (Sec), through recoding of the UGA stop codon, creates a unique class of proteins. Mice lacking tRNA(Sec) die in utero, but the in vivo role of other components involved in selenoprotein synthesis is unknown, and Sec incorporation defects have not been described in humans. Deiodinases (DIOs) are selenoproteins involved in thyroid hormone metabolism. We identified three of seven siblings with clinical evidence of abnormal thyroid hormone metabolism. Their fibroblasts showed decreased DIO2 enzymatic activity not linked to the DIO2 locus. Systematic linkage analysis of genes involved in DIO2 synthesis and degradation led to the identification of an inherited Sec incorporation defect, caused by a homozygous missense mutation in SECISBP2 (also called SBP2). An unrelated child with a similar phenotype was compound heterozygous with respect to mutations in SECISBP2. Because SBP2 is epistatic to selenoprotein synthesis, these defects had a generalized effect on selenoproteins. Incomplete loss of SBP2 function probably causes the mild phenotype. 相似文献
95.
Moreira MC Klur S Watanabe M Németh AH Le Ber I Moniz JC Tranchant C Aubourg P Tazir M Schöls L Pandolfo M Schulz JB Pouget J Calvas P Shizuka-Ikeda M Shoji M Tanaka M Izatt L Shaw CE M'Zahem A Dunne E Bomont P Benhassine T Bouslam N Stevanin G Brice A Guimarães J Mendonça P Barbot C Coutinho P Sequeiros J Dürr A Warter JM Koenig M 《Nature genetics》2004,36(3):225-227
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. 相似文献
96.
A value of 1.7 x 10(-3) has been reported for the ratio of CH3D to CH4 in the stratosphere of the saturnian moon Titan. A lower value of 6 x 10(-4) for this ratio in the deeper part of Titan's atmosphere was reported by de Bergh et al. For comparison we note that the CH3D to CH4 ratio on Saturn and Jupiter is 8.7 x 10(-5) and 6.7 x 10(-5), respectively. We estimate the uncertainties in all these observations and data reduction to be about a factor of 2. Despite these uncertainties it appears that Titan's atmosphere is enriched in deuterium by a factor of > or = 3 relative to Jupiter and Saturn. Potential causative factors examined here for this enrichment are condensation to form tropospheric methane clouds, fractionation occurring over a hypothetical CH4-C2H6 ocean and between the ocean and the clathrate crust beneath, fractionation which occurred during the formation of Titan and fractionation occurring as a result of the evolution of Titan's atmosphere. We conclude that the greater part of the observed fractionation is probably derived from the formation of Titan and the subsequent evolution of Titan's atmosphere driven by photochemistry. 相似文献
97.
98.
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome 总被引:1,自引:0,他引:1
Milner JD Brenchley JM Laurence A Freeman AF Hill BJ Elias KM Kanno Y Spalding C Elloumi HZ Paulson ML Davis J Hsu A Asher AI O'Shea J Holland SM Paul WE Douek DC 《Nature》2008,452(7188):773-776
99.
Service providers may vary service quality depending on whether they work alone or provide the service simultaneously with a partner. The latter case resembles a prisoner's dilemma, in which one provider may try to reap the benefits of the interaction without providing the service. Here we present a game-theory model based on the marginal value theorem, which predicts that as long as the client determines the duration, and the providers cooperate towards mutual gain, service quality will increase in the pair situation. This prediction is consistent with field observations and with an experiment on cleaning mutualism, in which stable male-female pairs of the cleaner wrasse Labroides dimidiatus repeatedly inspect client fish jointly. Cleaners cooperate by eating ectoparasites off clients but actually prefer to cheat and eat client mucus. Because clients often leave in response to such cheating, the benefits of cheating can be gained by only one cleaner during a pair inspection. In both data sets, the increased service quality during pair inspection was mainly due to the smaller females behaving significantly more cooperatively than their larger male partners. In contrast, during solitary inspections, cleaning behaviour was very similar between the sexes. Our study highlights the importance of incorporating interactions between service providers to make more quantitative predictions about cooperation between species. 相似文献
100.
Chen Y Zhu J Lum PY Yang X Pinto S MacNeil DJ Zhang C Lamb J Edwards S Sieberts SK Leonardson A Castellini LW Wang S Champy MF Zhang B Emilsson V Doss S Ghazalpour A Horvath S Drake TA Lusis AJ Schadt EE 《Nature》2008,452(7186):429-435
Identifying variations in DNA that increase susceptibility to disease is one of the primary aims of genetic studies using a forward genetics approach. However, identification of disease-susceptibility genes by means of such studies provides limited functional information on how genes lead to disease. In fact, in most cases there is an absence of functional information altogether, preventing a definitive identification of the susceptibility gene or genes. Here we develop an alternative to the classic forward genetics approach for dissecting complex disease traits where, instead of identifying susceptibility genes directly affected by variations in DNA, we identify gene networks that are perturbed by susceptibility loci and that in turn lead to disease. Application of this method to liver and adipose gene expression data generated from a segregating mouse population results in the identification of a macrophage-enriched network supported as having a causal relationship with disease traits associated with metabolic syndrome. Three genes in this network, lipoprotein lipase (Lpl), lactamase beta (Lactb) and protein phosphatase 1-like (Ppm1l), are validated as previously unknown obesity genes, strengthening the association between this network and metabolic disease traits. Our analysis provides direct experimental support that complex traits such as obesity are emergent properties of molecular networks that are modulated by complex genetic loci and environmental factors. 相似文献