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711.
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Matsson H Klar J Draptchinskaia N Gustavsson P Carlsson B Bowers D de Bont E Dahl N 《Human genetics》1999,105(5):496-500
Diamond-Blackfan anemia (DBA) is a rare constitutional erythroblastopenia characterized by a specific defect in erythroid differentiation. Recently, mutations in the gene encoding ribosomal protein (RP) S19 were found in a subset of patients with the disease. To characterize further RPS19 mutations and to investigate genotype-phenotype relationships, we screened this gene for mutations in patients with DBA by direct sequencing and Southern-blot analysis. Four novel mutations were identified. A G120A nonsense mutation resulting in a stop at codon 33, a C302T nonsense mutation introducing a premature stop at codon 84, and a 327delG which results in a frame shift at codon 103. A fourth and more complex mutation (TT157-158AA, 160insCT) resulting in a Leu45Gln and a frame shift from codon 47 was found in three affected family members with variable phenotypes. The different clinical expression for identical mutations suggest the presence of other modulating factors for the disease. The mutations presented here further support the role of RPS19 in erythropoietic differentiation and proliferation. 相似文献
714.
Alba M Fintini D Bowers CY Parlow AF Salvatori R 《American journal of physiology. Endocrinology and metabolism》2005,289(5):E762-E767
Growth hormone (GH) secretagogues (GHS) stimulate GH secretion in vivo in humans and in animals. They act on the ghrelin receptor, expressed in both the hypothalamus and the pituitary. It is unknown whether GHSs act predominantly by increasing the release of hypothalamic GH-releasing hormone (GHRH) or by acting directly on the somatotroph cells. We studied whether a potent GHS could stimulate growth in the absence of endogenous GHRH. To this end, we used GHRH knockout (GHRH-KO) mice. These animals have proportionate dwarfism due to severe GH deficiency (GHD) and pituitary hypoplasia due to reduced somatotroph cell mass. We treated male GHRH-KO mice for 6 wk (from week 1 to week 7 of age) with GH-releasing peptide-2 (GHRP-2, 10 microg s.c. twice a day). Chronic treatment with GHRP-2 failed to stimulate somatotroph cell proliferation and GH secretion and to promote longitudinal growth. GHRP-2-treated mice showed an increase in total body weight compared with placebo-treated animals, due to worsening of the body composition alterations typical of GHD animals. These data demonstrate that GHRP-2 failed to reverse the severe GHD caused by lack of GHRH. 相似文献
715.
The function of chitin synthases 2 and 3 in the Saccharomyces cerevisiae cell cycle 总被引:29,自引:4,他引:29
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J A Shaw P C Mol B Bowers S J Silverman M H Valdivieso A Durán E Cabib 《The Journal of cell biology》1991,114(1):111-123
The morphology of three Saccharomyces cerevisiae strains, all lacking chitin synthase 1 (Chs1) and two of them deficient in either Chs3 (calR1 mutation) or Chs2 was observed by light and electron microscopy. Cells deficient in Chs2 showed clumpy growth and aberrant shape and size. Their septa were very thick; the primary septum was absent. Staining with WGA-gold complexes revealed a diffuse distribution of chitin in the septum, whereas chitin was normally located at the neck between mother cell and bud and in the wall of mother cells. Strains deficient in Chs3 exhibited minor abnormalities in budding pattern and shape. Their septa were thin and trilaminar. Staining for chitin revealed a thin line of the polysaccharide along the primary septum; no chitin was present elsewhere in the wall. Therefore, Chs2 is specific for primary septum formation, whereas Chs3 is responsible for chitin in the ring at bud emergence and in the cell wall. Chs3 is also required for chitin synthesized in the presence of alpha-pheromone or deposited in the cell wall of cdc mutants at nonpermissive temperature, and for chitosan in spore walls. Genetic evidence indicated that a mutant lacking all three chitin synthases was inviable; this was confirmed by constructing a triple mutant rescued by a plasmid carrying a CHS2 gene under control of a GAL1 promoter. Transfer of the mutant from galactose to glucose resulted in cell division arrest followed by cell death. We conclude that some chitin synthesis is essential for viability of yeast cells. 相似文献
716.
Design, synthesis and bioassays of antagonists of LHRH which have high antiovulatory activity and release negligible histamine 总被引:3,自引:0,他引:3
A Ljungqvist D M Feng P F Tang M Kubota T Okamoto Y W Zhang C Y Bowers W A Hook K Folkers 《Biochemical and biophysical research communications》1987,148(2):849-856
Potent antagonists of the luteinizing hormone releasing hormone have been achieved which release negligible histamine. [N-Ac-D-2-Nal1, D-pClPhe2, D-3-Pal3, NicLys5, D-NicLys6, ILys8, D-Ala10]-LHRH showed 100%AOA/1 microgram and 36%/0. 5 micrograms; ED50 greater than 300. [N-Ac-D-2-Nal1,D-pClPhe2,D-3-Pal3, PicLys5, D-PicLys6, ILys8, D-Ala10]-LHRH showed 100% AOA/0.5 micrograms and 40%/0.25 micrograms; ED50, 93 +/- 11, and is the most potent of 52 new peptides. These antagonists feature designs with weakly basic acylated D-Lys6, notably D-NicLys6 and D-PicLys6 and alkylated Lys8 or Orn8, e.g., ILys8 and IOrn8, and NicLys5 and PicLys5. Concepts included balanced overall basicity, superiority of ILys8 and IOrn8 which are sequence dependent and sensitivity of positions 5 and 6 for potency. 相似文献
717.
Sidney Bowers 《The Western journal of medicine》1924,22(3):104-108
718.
719.
Michael A. Bowers Anthony Ellis 《Ethology : formerly Zeitschrift fur Tierpsychologie》1993,94(1):72-82
We examined the degree to which chipmunks foraging from dishes containing sunflower seeds varied cheek pouch load size according to both travel time (distance from burrows) and predation hazard (canopy cover). Results showed that larger loads were taken under cover at some distance from burrows than were taken from closer or more open sites. Distance effects appeared to reflect the influence of traveling times on quitting harvest rates as predicted by central place foraging models. Quitting harvest rates also appeared to be higher under low than under dense canopy cover; this trend was most pronounced at some distance from burrows suggesting that foraging decisions were made relative to both energetics and predator avoidance. Chipmunks appeared to employ a patch exploitation strategy that minimized the hazard:gain ratio. 相似文献