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排序方式: 共有184条查询结果,搜索用时 15 毫秒
61.
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Rauch A Thiel CT Schindler D Wick U Crow YJ Ekici AB van Essen AJ Goecke TO Al-Gazali L Chrzanowska KH Zweier C Brunner HG Becker K Curry CJ Dallapiccola B Devriendt K Dörfler A Kinning E Megarbane A Meinecke P Semple RK Spranger S Toutain A Trembath RC Voss E Wilson L Hennekam R de Zegher F Dörr HG Reis A 《Science (New York, N.Y.)》2008,319(5864):816-819
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ). 相似文献
63.
Myllykallio H Lipowski G Leduc D Filee J Forterre P Liebl U 《Science (New York, N.Y.)》2002,297(5578):105-107
Although deoxythymidylate cannot be provided directly by ribonucleotide reductase, the gene encoding thymidylate synthase ThyA is absent from the genomes of a large number of nonsymbiotic microbes. We show that ThyX (Thy1) proteins of previously unknown function form a large and distinct class of thymidylate synthases. ThyX has a wide but sporadic phylogenetic distribution, almost exclusively limited to microbial genomes lacking thyA. ThyX and ThyA use different reductive mechanisms, because ThyX activity is dependent on reduced flavin nucleotides. Our findings reveal complexity in the evolution of thymidine in present-day DNA. Because ThyX proteins are found in many pathogenic microbes, they present a previously uncharacterized target for antimicrobial compounds. 相似文献
64.
For the winter barley cultivar ‘Igri’, a microspore isolation and regeneration procedure is described which allows the production of such vigorous micro-spore fractions that this single-cell system can be used as a target for DNA uptake. Up to 60 % of the vigorous microspores isolated from the anther, and cultured in liquid modified MS medium, formed embryoids and/or calli. Such preparations were used for trials in DNA uptake with the plasmid pBI 221. Transformation trials were performed with polyethylene glycol as the inducing agent. With this treatment, a relative increase of fluorescence could be shown under UV light indicative of transient expression of the uidA gene. 相似文献
65.
Evaluation of a fibrillin 2 gene haplotype associated with hip dysplasia and incipient osteoarthritis in dogs 总被引:1,自引:0,他引:1
66.
Ursula Bechert Jack Mortenson Ellen S Dierenfeld Peter Cheeke Mark Keller Michael Holick Tai C Chen Quinton Rogers 《Journal of zoo and wildlife medicine》2002,33(1):16-28
Nutrition most certainly affects health and may play a role in the etiology of growth and reproductive problems in captive cheetah (Acinonyxjubatus) populations. The objective of our research was to examine nutritional differences between two dietary regimens and quantify their physiologic effects on cheetahs held in captivity. Twelve cheetahs were randomly assigned to either a commercial diet (COM) or a supplemented meat diet (SMD) group. These cats were physically examined and had blood samples taken three times over the course of a year. Representative samples of COM and four separate components of the SMD treatment were analyzed over the same time frame for proximate nutrient composition, digestibility, and concentrations of taurine, fat-soluble vitamins, and selected minerals. Concentrations of fat, vitamins A and E, Se, Fe, Cu, Na, and Mn were significantly higher in COM compared with those in SMD samples, with the exception of fat content in turkey. Mg content was lower in COM than in SMD; other nutrients did not differ. Mean concentrations of vitamins A and E in COM were markedly higher than in SMD samples (408,140 vs. 29,696 IU/kg dry matter [DM] and 431 vs. 48 IU/kg DM, respectively) and varied dramatically between sampling periods. Percent crude protein and protein-to-fat ratios were high for SMD compared with either whole prey-based or commercial food preparations. Blood urea nitrogen and serum creatinine levels were above normal reference means for domestic cats. Plasma concentrations of vitamins A, D, and E were significantly higher in COM-fed than in SMD-fed cheetahs. Both plasma retinol and tocopherol levels were almost three times higher in COM-fed cats (1.26 +/- 0.06 vs. 0.53 +/- 0.03 microg/ml and 17.5 +/- 0.7 vs. 6.4 +/- 0.02 microg/ml, respectively) and exceeded the normal ranges expected for domestic felids. Significant differences between male and female cheetahs were found for plasma concentrations of vitamin E, Se, and Fe after allowing for effects of diet and time of collection. Excess fat-soluble dietary vitamins can result in direct toxicities as well as nutrient antagonisms and may be linked to reproductive and health issues in captive cheetahs. The high protein levels found in SMD may be linked to chronic renal disease, which was detected in some of these cheetahs. 相似文献
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Ursula Gross Rosio Godomar Galindo Hans Schoeneberger 《Plant foods for human nutrition (Dordrecht, Netherlands)》1983,32(2):155-164
To ensure the cultivation of the lupine and improve the nutritional state of the Andean population, products have been developed which are enriched with lupine. The high content of bitter alkaloids in the seed of theLupinus mutabilis may be considerably reduced by washing with water (traditional method, ‘Cuzco method’). Drying the grains makes it possible to store them. The lupine with a moisture content of 4 to 8%, can be milled; the flour obtained is slightly yellowish and suitable for panification, where 10 to 40% of the wheat flour may be substituted by lupin. The Protein Efficiency Ratio (PER) of bread was found to be 28% (casein 100%) and was much higher after the enrichment with 10% lupine flour (76%). Lupine based dishes have been well accepted according to a test of acceptability performed with children from 8 to 15 years of age over a three year period. 相似文献
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70.
Germplasm enhancement of maize: a look into haploid induction and chromosomal doubling of haploids from temperate‐adapted tropical sources 下载免费PDF全文
Andrew Smelser Candice Gardner Michael Blanco Thomas Lübberstedt Ursula Frei 《Plant Breeding》2016,135(5):593-597
The allelic diversity (AD) project of the Germplasm Enhancement of Maize (GEM) programme utilized the double haploid (DH) breeding method to expedite development and release of lines derived from 300 exotic maize races. Using 18 races in this study, differential effects on haploid induction rates (HIRs) and doubling rates (DRs) by the recurrent parents PHB47 and PHZ51, the elevation that the race is traditionally grown at, and by the race itself were addressed in this study. Races from the AD project were grouped by elevation of their origin, high, middle or low altitude. Six races per elevation were randomly selected and backcrossed using both recurrent parents to generate 36 populations. Ten replications were randomized in a complete randomized design for two growing seasons. The recurrent parent effect was significant, with PHB47 having a higher HIR than PHZ51. Effect of elevation was significant with higher HIR associated with low‐elevation origin, and race also proved to be significant. Effects of elevation, recurrent parent and race were not significant for DR. 相似文献