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排序方式: 共有542条查询结果,搜索用时 31 毫秒
21.
Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes 总被引:5,自引:4,他引:1 下载免费PDF全文
Lindsay A. Farrer Kathleen S. Arnos James H. Asher Clinton T. Baldwin Scott R. Diehl Thomas B. Friedman Jacquie Greenberg Kenneth M. Grundfast Christopher Hoth Anil K. Lalwani Barbara Landa Kate Leverton Aubrey Milunsky Robert Morell Walter E. Nance Valerie Newton Rajkumar Ramesar Valluri S. Rao Jennifer E. Reynolds Theresa B. San Agustin Edward R. Wilcox Ingrid Winship Andrew P. Read 《American journal of human genetics》1994,55(4):728-737
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between −2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3. 相似文献
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John S. Chapman Megan A. Diehl Richard C. Lyman 《Journal of industrial microbiology & biotechnology》1993,12(6):403-407
Summary Inhibition of growth and speed of kill by biocides with different mechanisms of action was examined with respect to intracellular glutathione levels. strain deficient in intracellular glutathione was hypersusceptible to electrophilic biocides, with the exception of an isothiazolone biocide. Growth inhibition by quaternary ammonium compounds and radical-generating biocides was unaffected by intracellular glutathione levels. Speed of kill experiments demonstrated a faster rate of killing by formaldehyde in both log and stationary phase cultures of the glutathione-deficient strain as compared to its wild-type parent. Glutathione levels had no effect on the speed of kill by hydrogen peroxide in log phase cultures, but resulted in an increased rate of killing in stationary phase cultures. Stationary phase cultures of the glutathione-deficient strain were killed by a quaternary ammonium biocide at a slower than the glutathione-replete strain. These studies provide information about both the mechanism of action of biocides as well as the role of glutathione in determining microbicide susceptibility. 相似文献
24.
Induction of accelerated feline immunodeficiency virus disease by acute-phase virus passage. 总被引:4,自引:2,他引:2 下载免费PDF全文
L J Diehl C K Mathiason-Dubard L L O'Neil L A Obert E A Hoover 《Journal of virology》1995,69(10):6149-6157
Development of feline immunodeficiency virus (FIV) infection in cats as a small animal model for lentiviral immunodeficiency disease has been hampered by the prolonged and variable disease course following experimental infection. To address this issue, we generated high-titer, unselected FIV stocks by pooling plasma from cats acutely infected with a subgroup C FIV isolate designated CABCpadyOOC (FIV-C-PGammer). Subsequent infection with this virus pool resulted in rapidly progressive, fatal disease in greater than 50% of infected cats. Accelerated FIV disease was characterized by rapid and progressive CD4+ T-cell loss, lymphadenopathy, weight loss, lymphoid depletion, and severe thymic atrophy. Mortality and rate of disease progression were affected by the age of each cat at infection and whether the virus source animal was in the acute or chronic stage of infection. The rapid FIV disease syndrome was consistently associated with systemic lymphoid depletion, clinical disease, and susceptibility to opportunistic infections, analogous to accelerated and/or terminal HIV-1 infection. The results of this study demonstrate that FIV infection is a valid small animal model for lentiviral immunodeficiency disease. 相似文献
25.
Eighteen components in rainbow trout serum were tested for variability among individuals and stability during storage. In addition, the precision of an automated serum analysis system was determined. Stability of serum components was observed over 42 days at temperatures of 25° C, 4° C and - 10° C. Components tested included: albumin, total protein, blood urea nitrogen, cholesterol, chloride, glucose, potassium, sodium, cholinesterase, alkaline phosphatase, lactic dehydrogenase, a-hydroxybutyrate dehydrogenase, glutamic pyruvic transaminase, phosphohexose isomerase, inorganic phosphorus, calcium, creatinine, and creatine phosphokinase. Fish serum was generally more stable than human serum when stored at 25° C and 4° C and similar in stability at - 10° C. Precision of analytical methodologies was excellent for all components measured except creatine phosphokinase. 相似文献
26.
Albumin, cholesterol, glucose, inorganic phosphorus, and total protein analyses were not affected by temperatures between 20 and 38°C nor by dilution with either 0.65% or 0.85% NaCl. Additionally, blood urea nitrogen, calcium and creatinine were unaffected by dilution. Alkaline phosphotase, cholinesterase, glutamic oxaloacetic transaminase, glutamic pyruvic transaminase, α-hydroxybutyrate dehydrogenase, lactic dehydrogenase, and phosphohexose isomerase were all affected by temperature. Results of dilution tests were generally inconclusive, while results of enzymatic reactions indicate that reaction temperatures must be closely controlled to produce comparable results. 相似文献
27.
Peripheral blood lymphocytes from 43 patients with Hodgkin's disease were studied for spontaneous growth in longterm cultures in vitro. The rate of culture establishment in Hodgkin's patients was dependant on a positive Epstein-Barr-Virus (EBV)-seroreactivity and intact delayed hypersensitivity reaction to tuberculin. Localized and inactive disease, as well as the absence of atypical mononuclear cells in the peripheral blood had a favourable influence on the longterm in vitro growth. The overall establishment rate in Hodgkin patients was 18 out of 60 attempts (30%), 16 out of 34 (47%) in patients without treatment, only 2 out of 26 (7.7%) attempts during treatment. These results were compared with culture attempts of peripheral blood cells from healthy individuals and umbilical cord blood lymphocytes. Only 12 out of 60 attempts in healthy donors (18.2%) and 0 out of 49 attempts with umbilical cord blood lymphocytes were successful. 相似文献
28.
Molecular cloning and characterization of human papilloma virus DNA derived from a laryngeal papilloma 总被引:39,自引:17,他引:22 下载免费PDF全文
Papilloma virus DNA from a laryngeal papilloma was cloned in phage lambda L 47 and characterized after cleavage with different restriction enzymes. Hybridization with the DNAs of human papilloma virus types 1, 2, 3, 4, 5, and 8 showed no homology under stringent hybridization conditions. Human papilloma virus type 6 DNA, however, was partially identical to laryngeal papilloma virus DNA; different restriction enzyme fragments hybridizing with the other DNA were identified on each genome. The degree of homology was determined by reassociation kinetics to be 25%. According to the present nomenclature, laryngeal papilloma virus therefore represents a different type of human papilloma virus and is tentatively designated as human papilloma virus type 11. Sequences homologous to laryngeal papilloma virus DNA were also found in four of nine additional laryngeal papillomas. Attempt to detect homologous DNA in 12 carcinomas of the larynx were negative. 相似文献
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Ctia Monteiro Huiru Li Nora Diehl Jonas Colln Sandra Heinrich Kai Bischof Inka Bartsch 《Phycological Research》2021,69(1):48-57
The sugar kelp Saccharina latissima experiences a wide range of environmental conditions along its geographical and vertical distribution range. Temperature and salinity are two critical drivers influencing growth, photosynthesis and biochemical composition. Moreover, interactive effects might modify the results described for single effects. In shallow water coastal systems, exposure to rising temperatures and low salinity are expected as consequence of global warming, increased precipitation and coastal run‐off. To understand the acclimation mechanisms of S. latissima to changes in temperature and salinity and their interactions, we performed a mechanistic laboratory experiment in which juvenile sporophytes from Brittany, France were exposed to a combination of three temperatures (0, 8 and 15°C) and two salinity levels (20 and 30 psu (practical salinity units)). After a temperature acclimation of 7 days, sporophytes were exposed to low salinity (20 psu) for a period of 11 days. Growth, and maximal quantum yield of photosystem II (Fv/Fm), pigments, mannitol content and C:N ratio were measured over time. We report for the first time in S. latissima a fivefold increase in the osmolyte mannitol in response to low temperature (0°C) compared to 8 and 15°C that may have ecological and economic implications. Low temperatures significantly affected all parameters, mostly in a negative way. Chlorophyll a, the accessory pigment pool, growth and Fv/Fm were significantly lower at 0°C, while the de‐epoxidation state of the xanthophyll cycle was increased at both 0 and 8°C compared to 15°C. Mannitol content and growth decreased with decreased salinity; in contrast, pigment content and Fv/Fm were to a large extent irresponsive to salinity. In comparison to S. latissima originating from an Arctic population, despite some reported differences, this study reveals a remarkably similar impact of temperature and salinity variation, reflecting the large degree of adaptability in this species. 相似文献