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91.
Metzinger L; Blake DJ; Squier MV; Anderson LV; Deconinck AE; Nawrotzki R; Hilton-Jones D; Davies KE 《Human molecular genetics》1997,6(7):1185-1191
Mutations in the genes encoding dystrophin or dystrophin-associated
proteins are responsible for Duchenne muscular dystrophy or various forms
of limb-girdle muscular dystrophies respectively. We have recently cloned
the gene for the murine 87 kDa postsynaptic protein dystrobrevin, a
dystrophin-associated protein. Anti-dystrobrevin antibodies stain the
sarcolemma in normal skeletal muscle indicating that dystrobrevin
co-localises with dystrophin and the dystrophin- associated protein
complex. By contrast, dystrobrevin membrane staining is severely reduced in
muscles of Duchenne muscular dystrophy patients, consistent with
dystrobrevin being a dystrophin-associated protein. Interestingly,
dystrobrevin staining at the sarcolemma is dramatically reduced in patients
with limb-girdle muscular dystrophy arising from the loss of one or all of
the sarcoglycan components. Normal dystrobrevin staining is observed in
patients with other forms of limb- girdle muscular dystrophy where
dystrophin and the rest of the dystrophin-associated protein complex are
normally expressed and in other neuromuscular disorders. Our results show
that dystrobrevin- deficiency is a generic feature of dystrophies linked to
dystrophin and the dystrophin-associated proteins. This is the first
indication that a cytoplasmic component of the dystrophin-associated
protein complex may be involved in the pathogenesis of limb-girdle muscular
dystrophy.
相似文献
92.
MV SINGH SK GANGULI BM AIYANNA MV SINGH SK GANGULI BM AIYANNA 《Medical Journal Armed Forces India》1996,52(4):229-232
A study was conducted of the epidemiological aspects of 500 fresh cases of burns during the period February to August 1989. Women in the reproductive age group from the lower socioeconomic strata were the most frequently victims (52.8%). Four hundred and thirteen (82.5%) patients sustained accidental burns, 62 (12.4%) were suicidal and 25 (5%) homicidal. Majority (72%) of the accidents occurred as a consequence of garments catching fire. Though most of the subjects wore cotton garments, mortality was higher among those wearing synthetic fabric. Low socioeconomic conditions, overcrowding in the house, floor-level cooking, unsafe cooking appliances and the prevalent clothing pattern stand out prominently as risk factors for burn injury.KEY WORDS: Burns, Epidemiology, Risk factors 相似文献
93.
The mutations of the p53 gene previously represented one of several genetic changes involved in the development of bovine leukemia virus (BLV)-induced lymphosarcoma, while the effects of these mutations on the function of p53 are unknown. We identified four mutations of p53 gene in BLV-infected cattle with lymphosarcoma and demonstrated clearly the existence of two functionally distinct groups of mutants: (i) the mutant forms with substitutions at codons 241 and 242, which were mapped within an evolutionally conserved region and corresponded to the human "hot-spot" mutations, had completely lost the capacities for transactivation and growth suppression and gained transdominant repression activity in p53-null SAOS-2 cells; and (ii) the mutations at codons 206 and 207 were located outside the evolutionally conserved regions. These mutants partially retained the capacity for transactivation and growth suppression and failed to inhibit the transactivation activity of coexpressed wild-type p53, instead showing an enhancement of this activity. In addition, protein analysis using an antibody specific for the mutant form revealed that the mutations at codons 206 and 242 induced a "mutant" conformation of the bovine p53 proteins. Collectively, these results show that mutations of p53 gene in BLV-infected cattle with lymphosarcoma can potentially alter its physiological function and may play an important role in BLV-induced leukemogenesis. Copyright 1998 Academic Press. 相似文献
94.
95.
Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds 总被引:10,自引:2,他引:10
The relationship of clinical bleeding tendency and factor XI antigen (XI:Ag) in factor XI deficiency was studied in 78 members of 25 factor XI-deficient kindreds. Factor XI:Ag was measured in a competitive radioimmunoassay, using monospecific, heterologous anti-factor XI antibody. 125I-labeled factor XI, and staphylococcal protein A as the precipitating agent. Deficiency of factor XI clotting activity (XI:C), less than 0.62 U/mL, occurred in 48 individuals, 22 of whom experienced postoperative or posttraumatic bleeding: Their mean factor XI:C was 0.21 +/- 0.04 U/mL (SEM), and factor XI:Ag was 0.23 +/- 0.04 U/mL. The remaining 26 had no clinical bleeding, many despite surgical challenge: Their mean factor XI:C was 0.30 +/- 0.04 U/mL, and factor XI:Ag was 0.34 +/- 0.05 U/mL. In all, 13 kindreds had between 1 and 11 members with bleeding; the other 12 had none with deficient hemostasis. Two heterozygous factor XI-deficient individuals appeared to be positive for cross-reacting material (CRM+). The slope of the regression line for factor XI:C and factor XI:Ag data points in the 78 individuals tested did not differ from control, and all points fell within 95% confidence limits derived from control. In conclusion, bleeding tendency appears to be consistent within a given kindred and is not determined exclusively by factor XI:C or factor XI:Ag levels. 相似文献
96.
Kuruva Chandra Sekhar Rasheed Syed Madhava Golla Jyothi Kumar MV Nanda Kumar Yellapu Appa Rao Chippada Naga Raju Chamarthi 《Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences》2014,22(1)
Background
Chronic and oral administration of benzylamine improves glucose tolerance. Picolylamine is a selective functional antagonist of the human adenosine A2B receptor. Phosphonic diamide derivatives enhance the cellular permeability and in turn their biological activities.Methods
A series of heteroaryl phosphonicdiamide derivatives were designed as therapeutics to control and manage type2 diabetes. Initially defined Lipinski parameters encouraged them as safer drugs. Molecular docking of these compounds against Protein tyrosine phosphatase (PTP), the potential therapeutic target of type 2 diabetes, revealed their potential binding ability explaining their anti-diabetic activity in terms of PTP inhibition. Human intestinal absorption, Caco-2 cell permeability, MDCK cell permeability, BBB penetration, skin permeability and plasma protein binding abilities of the title compounds were calculated by PreADMET server. A convenient method has been developed for the synthesis of title compounds through the formation of 1-ethoxy-N,N’-bis(4-fluorobenzyl/pyridin-3-ylmethyl)phosphinediamine by the reaction of 4-fluorobenzylamine/ 3-picolylamine with ethyldichlorophosphite, subsequently reacted with heteroaryl halides using lanthanum(III) chloride as a catalyst.Results
All the compounds exhibited significant in vitro anti-oxidant activity and in vivo evaluation in streptozotocin induced diabetic rat models revealed that the normal glycemic levels were observed on 12th day by 9a and 20th day by 5b, 5c, 9e and 9f. The remaining compounds also exhibited normal glycemic levels by 25th day.Conclusion
The results from molecular modeling, in vitro and in vivo studies are suggesting them as safer and effective therapeutic agents against type2 diabetes.Graphical Abstract
Open in a separate windowDevelopment of PTPs inhibitors.Electronic supplementary material
The online version of this article (doi:10.1186/s40199-014-0076-3) contains supplementary material, which is available to authorized users. 相似文献97.
98.
Lymphomagenesis in the SCID-hu mouse involves abundant production of human interleukin-10 总被引:6,自引:1,他引:6
99.
Ragni MV; Tegtmeier GE; Levy JA; Kaminsky LS; Lewis JH; Spero JA; Bontempo FA; Handwerk-Leber C; Bayer WL; Zimmerman DH 《Blood》1986,67(3):592-595
Antibodies to the AIDS retrovirus, specifically to human T cell lymphotropic virus, type III, and AIDS-associated retrovirus, were detected with increasing prevalence in a population of 190 hemophiliacs from western Pennsylvania between 1981 and 1984: 7.7% in 1981, 20.0% in 1982, 45.5% in 1983, and 62.5% in 1984. The seropositive included approximately three fourths of those receiving factor VIII concentrate, nearly one third of those receiving factor IX concentrate, nearly one fifth of those receiving cryoprecipitate, and none of those receiving fresh frozen plasma. The seroconversion rate, determined on 43 seropositive hemophiliacs from this group who were serially sampled, was 0% in 1977, 4.7% in 1978, 4.9% in 1979, 2.6% in 1980, 10.5% in 1981, 52.9% in 1982, 87.5% in 1983, and 100% in 1984. Of 27 seropositive for three or more years (since 1982 or before), four (15%) have developed AIDS and seven (26%), diffuse lymphadenopathy (ARC); of 16 seropositive for less than three years, none has developed AIDS and three (19%) have developed ARC. The mean time from seroconversion to onset of ARC, 0.8 +/- 0.2 years (SEM), was shorter (P less than .001) than the time to onset of AIDS, 4.1 +/- 0.6 years. These findings confirm the widespread presence of AIDS retrovirus and support the association of these retroviruses with the acquired immunodeficiency syndrome and related conditions. 相似文献
100.
To the editor: Shao Xinxin and colleagues recently described a case of duodenal stump leakage caused by Taenia saginata (T.saginata). Apparently, they did not identify the discharged adult tapeworm recovered after the treatment neither morphologically nor molecularly. The authors concluded that the species responsible for the symptoms was T. saginata based on the fact that the patient mentioned that he had been infected by T. saginata two years ago. 相似文献