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11.
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin 总被引:6,自引:0,他引:6
Levy-Nissenbaum E Betz RC Frydman M Simon M Lahat H Bakhan T Goldman B Bygum A Pierick M Hillmer AM Jonca N Toribio J Kruse R Dewald G Cichon S Kubisch C Guerrin M Serre G Nöthen MM Pras E 《Nature genetics》2003,34(2):151-153
We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology. 相似文献
12.
The formation of lipofuscin pigment in the anterior horn cells of the cervical spinal cord has shown in the fetuses and neonates under the extrinsic influence of maternal protein deprivation during the gestation period in the squirrel monkeys. 相似文献
13.
14.
Rat peritoneal mast cells were isolated and purified by differential centrifugation in Ficoll. Cells pooled from three to four rats were suspended at approximately 10(6) cells/ml in a buffered salt solution and incubated for 1 h at 37 degrees C in 300 microliter volumes in the absence or presence (9 X 10(-4) M) of calcium chloride. Addition of D-galactosamine hydrochloride (DGM; 2.8 X 10(-4)M) caused (in addition to basal release) a mean +/- SEM percent histamine release of 15.7 +/- 5.2 in the presence of Ca++ and 19 +/- 4.9 in the absence of Ca++ (p greater than 0.05). It is suggested that D-galactosamine does not require extracellular Ca++ for the release of histamine from the rat mast cell. 相似文献
15.
Summary The relationship of chlorophylls and carotenoids with drought resistance has been studied in some of the ferns found in Rajasthan, without heating as well as after heating the fronds at 60°C. The xerophytic species showed lesser degradation of chlorophyll and exhibited higher carotenoid contents. 相似文献
16.
A. C. Mathur Ajay K. Sharma V. Verma 《Cellular and molecular life sciences : CMLS》1980,36(2):245-246
Summary Feeding male houseflies with 0.075% aristolochic acid obtained from the plants of the genusAristolochia induced sterility. High condensation of chromosomes, and breakages, have been shown to be responsible for sterility. When onion roots were exposed to aristolochic acid similar chromosomal aberrations were noticed in cells at the tip.Authors are thankful to Prof. Dr G. Rücker (Universität Bonn) for a generous gift of aristolochic acid. 相似文献
17.
Summary Chicken spinal cord adenosine triphosphatases (both Na+, K+ stimulated and ouabain insensitive) were inhibited by tri-o-tolyl phosphate (TOTP, a neurotoxic organophosphate which is not a cholinesterase inhibitor) and mevinphos (a non-neurotoxic compound but inhibitor of cholinesterases). The inhibition was concentration and time dependent, with an initial rapid drop in activity followed by a gradual exponential decline. 相似文献
18.
The activity of citrate synthase of the liver and brain of rats shows a gradual increase as a function of age. Adrenalectomy causes no significant change in the activity of citrate synthase in either of these tissues in young, adult or old rats. Administration of hydrocortisone to adrenalectomized rats depresses the activity of this enzyme maximally in the liver and brain of young rats. Administration of actinomycin D tends to normalize the depressed level of this enzyme. 相似文献
19.
A concept of system waste has been developed, and reported in the literature, to focus explicitly on waste and its reduction. In this study, which is a part of the authors' ongoing research on system waste, an attempt has been made to estimate current and future system waste in education and research (EDR) in India. The concept of system waste, which is defined as “any unnecessary input to and/or any undesirable output from any system,” is complex, multifaceted, subjective and not generally clearly understood. Its study is a fit case for the use of qualitative group problem-solving techniques. Delphi is the technique which has been used here to learn about system waste. A two-round Delphi study was conducted in 1990 in EDR in which teachers, educational administrators, planners, and parents participated. The paper describes the study and its results. 相似文献
20.
Summary 6 insecticides; chlordane, malathion, fenitrothion, pyrethrum, rotenone and sevin, were screened againstGryllodes sigillatus Wlk. reared under crowded and isolated conditions. Chlordane was found to be most toxic, followed by malation, fenitrothion, pyrethrum, rotenone and sevin. Insects reared under crowded conditions were more susceptible to insecticides than insects reared under isolated conditions.Acknowledgments. The authors are grateful to Dr S. C. Saxena for providing all facilities. 相似文献