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81.
We have observed dystrophic choline acetyltransferase (ChAT)-positive processes surrounding the amyloid core of neuritic plaques in human neocortex, amygdala and hippocampus, using a polyclonal anti-human ChAT antiserum. These data, and those from studies of the aged monkey by other investigators, provide a morphologic counterpart for the biochemical abnormality of the cholinergic system in Alzheimer's disease and senile dementia of the Alzheimer type. 相似文献
82.
83.
Barbara H. Bowman Lillian H. Lockhart Victoria L. Herzberg Don R. Barnett Donald Armstrong John Kramer 《Clinical genetics》1973,4(6):461-463
The presence of a ciliary inhibitor in media of cultured amniotic cells obtained from a fetus heterozygous for cystic fibrosis has been observed by the oyster gill cilia assay. The chromatographic fraction containing the inhibitor corresponded to eluted fractions chromatographed from cystic fibrosis fibroblast media and serum. An analogous chromatographic fraction from media of cultured amniotic cells from two proportedly normal fetuses did not inhibit cilia. The chromatographic fraction from media of cultured amniotic cells of a fetus at high risk for cystic fibrosis did not inhibit ciliary activity. Serum was collected from this baby seven weeks after birth and also did not inhibit ciliary action, indicating a homozygous normal genotype. These observations may lead to the development of an antenatal test for cystic fibrosis. 相似文献
84.
Reddy MV Storer RD Laws GM Armstrong MJ Barnum JE Gara JP McKnight CG Skopek TR Sina JF DeLuca JG Galloway SM 《Environmental and molecular mutagenesis》2002,40(1):1-17
3-Methylindole (3MI), melatonin (Mel), serotonin (Ser), and tryptamine (Tryp) were evaluated in vitro for their potential to induce DNA adducts, DNA strand breaks, chromosomal aberrations (Abs), inhibition of DNA synthesis, and mutations. All compounds produced DNA adducts in calf thymus DNA in the presence of rat liver S9. In cultured rat hepatocytes, all produced DNA adducts but none induced DNA strand breaks. In Chinese hamster ovary cells, 3MI and Mel produced DNA adducts, Abs, and inhibition of DNA synthesis with and without S9, except that Mel without S9 did not form adducts. Ser formed DNA adducts, was an equivocal Abs inducer, and suppressed DNA synthesis. Tryp induced neither adducts nor Abs, but did suppress DNA synthesis with S9. Ser and Tryp were less cytotoxic than 3MI and Mel. Mel, Ser, and Tryp failed to induce mutations in Salmonella and E. coli strains with or without S9. 3MI and Mel produced DNA adducts but not mutations in Salmonella TA100 with S9. 3MI and its metabolite indole 3-carbinol also did not induce mutations in a shuttle vector system in human cells. The lack of correlation between DNA adducts and other genotoxicity endpoints for these indole compounds may be due to the higher sensitivity of the (32)P-postlabeling adduct assay or it may indicate that the indole-DNA adducts per se are not mutagenic and are not able to induce strand breaks or alkali-labile lesions. The indole-induced Abs may result from cytotoxicity and suppression of DNA synthesis with minimal if any contribution from DNA adducts. 相似文献
85.
Preimplantation genetic diagnosis principles and ethics 总被引:4,自引:0,他引:4
86.
Life expectancy in British Marfan syndrome populations 总被引:2,自引:0,他引:2
JR Gray AB Bridges RR West L. McLeish AG Stuart JCS Dean MEM Porteous M. Boxer SJ Davies 《Clinical genetics》1998,54(2):124-128
A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970–1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3 ± 16.5 years. 50% median cumulative survival in the total cohort (n = 206) was 53 years for males and 72 years for females. Multivariate analysis confirmed severity as the best independent indicator of survival. These findings and survival curves will assist in the counselling of British families and individuals with Marfan syndrome. 相似文献
87.
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes 总被引:17,自引:8,他引:17
Campuzano V; Montermini L; Lutz Y; Cova L; Hindelang C; Jiralerspong S; Trottier Y; Kish SJ; Faucheux B; Trouillas P; Authier FJ; Durr A; Mandel JL; Vescovi A; Pandolfo M; Koenig M 《Human molecular genetics》1997,6(11):1771-1780
Friedreich ataxia is a progressive neurodegenerative disorder caused by
loss of function mutations in the frataxin gene. In order to unravel
frataxin function we developed monoclonal antibodies raised against
different regions of the protein. These antibodies detect a processed 18
kDa protein in various human and mouse tissues and cell lines that is
severely reduced in Friedreich ataxia patients. By immunocytofluorescence
and immunocytoelectron microscopy we show that frataxin is located in
mitochondria, associated with the mitochondrial membranes and crests.
Analysis of cellular localization of various truncated forms of frataxin
expressed in cultured cells and evidence of removal of an N-terminal
epitope during protein maturation demonstrated that the mitochondrial
targetting sequence is encoded by the first 20 amino acids. Given the
shared clinical features between Friedreich ataxia, vitamin E deficiency
and some mitochondriopathies, our data suggest that a reduction in frataxin
results in oxidative damage.
相似文献
88.
Castellani JW Armstrong LE Kenefick RW Pasqualicchio AA Riebe D Gabaree CL Maresh CM 《European journal of applied physiology》2001,84(1-2):42-47
It is yet unknown how upper body exercise combined with high ambient temperatures affects plasma testosterone and cortisol
concentrations and furthermore, how these hormones respond to exercise in people suffering spinal cord injuries. The purpose
of this study was to characterize plasma testosterone and cortisol responses to upper body exercise in wheelchair athletes
(WA) compared to able-bodied individuals (AB) at two ambient temperatures. Four WA [mean age 36 (SEM 13) years, mean body
mass 66.9 (SEM 11.8) kg, injury level T7–T11], matched with five AB [mean age 33.4 (SEM 8.9) years, mean body mass 72.5 (SEM 13.1) kg] exercised (cross-over design) for
20 min on a wheelchair ergometer (0.03 kg resistance · kg−1 body mass) at 25 °C and 32 °C. Blood samples were obtained before (PRE), at min 10 (MID), and min 20 (END) of exercise. No
differences were found between results obtained at 25 °C and 32 °C for any physiological variable studied and therefore these
data were combined. Pre-exercise testosterone concentration was lower (P < 0.05) in WA [18.3 (SEM 0.9) nmol · l−1] compared to AB [21.9 (SEM 3.6) nmol · l−1], and increased PRE to END only in WA. Cortisol concentrations were similar between groups before and during exercise, despite
higher rectal temperatures in WA compared to AB, at MID [37.21 (SEM 0.14) and 37.02 (SEM 0.08)°C, respectively] and END
[37.36 (SEM 0.16) and 37.19 (SEM 0.10)°C, respectively]. Plasma norepinephrine responses were similar between groups. In conclusion,
there were no differences in plasma cortisol concentrations, which may have been due to the low relative exercise intensities
employed. The greater exercise response in WA for plasma testosterone should be confirmed on a larger population. It could
have been the result of the lower plasma testosterone concentrations at rest in our group.
Accepted: 4 September 2000 相似文献
89.
Hormonal cohtrol of uterine lumen fluid retention in the rat 总被引:2,自引:0,他引:2
D T Armstrong 《The American journal of physiology》1968,214(4):764-771
90.
You Mie Lee John J Cope Gabriele E Ackermann Katsutoshi Goishi Ehrin J Armstrong Barry H Paw Joyce Bischoff 《Developmental dynamics》2006,235(1):29-37
Vascular endothelial growth factor-receptors (VEGF-Rs) are pivotal regulators of vascular development, but a specific role for these receptors in the formation of heart valves has not been identified. We took advantage of small molecule inhibitors of VEGF-R signaling and showed that blocking VEGF-R signaling with receptor selective tyrosine kinase inhibitors, PTK 787 and AAC 787, from 17-21 hr post-fertilization (hpf) in zebrafish embryos resulted in a functional and structural defect in cardiac valve development. Regurgitation of blood between the two chambers of the heart, as well as a loss of cell-restricted expression of the valve differentiation markers notch 1b and bone morphogenetic protein-4 (bmp-4), was readily apparent in treated embryos. In addition, microangiography revealed a loss of a definitive atrioventricular constriction in treated embryos. Taken together, these data demonstrate a novel function for VEGF-Rs in the endocardial endothelium of the developing cardiac valve. 相似文献