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排序方式: 共有581条查询结果,搜索用时 17 毫秒
1.
Predominance of null mutations in ataxia-telangiectasia 总被引:15,自引:4,他引:15
Gilad S; Khosravi R; Shkedy D; Uziel T; Ziv Y; Savitsky K; Rotman G; Smith S; Chessa L; Jorgensen TJ; Harnik R; Frydman M; Sanal O; Portnoi S; Goldwicz Z; Jaspers NG; Gatti RA; Lenoir G; Lavin MF; Tatsumi K; Wegner RD; Shiloh Y; Bar-Shira A 《Human molecular genetics》1996,5(4):433-439
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving
cerebellar degeneration, immunodeficiency, chromosomal instability,
radiosensitivity and cancer predisposition. The responsible gene, ATM, was
recently identified by positional cloning and found to encode a putative
350 kDa protein with a Pl 3-kinase-like domain, presumably involved in
mediating cell cycle arrest in response to radiation-induced DNA damage.
The nature and location of A-T mutations should provide insight into the
function of the ATM protein and the molecular basis of this pleiotropic
disease. Of 44 A-T mutations identified by us to date, 39 (89%) are
expected to inactivate the ATM protein by truncating it, by abolishing
correct initiation or termination of translation, or by deleting large
segments. Additional mutations are four smaller in-frame deletions and
insertions, and one substitution of a highly conserved amino acid at the Pl
3-kinase domain. The emerging profile of mutations causing A-T is thus
dominated by those expected to completely inactivate the ATM protein. ATM
mutations with milder effects may result in phenotypes related, but not
identical, to A-T.
相似文献
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Difference in cell binding patterns of two monoclonal antibodies recognizing distinct epitopes on a human melanoma-associated oncofetal antigen 总被引:1,自引:0,他引:1
Two monoclonal antibodies (MAbs), 140.240 and 96.5, generated independently in different laboratories, have been shown to detect the target structures of 87,000 (gp87) and 97,000 (p97) glycoproteins, respectively, both strongly expressed by melanoma cells and fetal small intestine. To determine whether MAb 140.240 and MAb 696.5 recognized a same target structure, they were tested in immunoprecipitation/SDS-PAGE using NP-40 lysates of melanoma cells labelled with [35S]methionine for 18 hr. Both antibodies precipitated a single band with Mr = 87,000. Reciprocal immunodepletion studies showed that neither of the two antibodies detected the 87,000 band in the lysate immuno depleted by either antibody, suggesting that these two antibodies recognize the same or extremely similar molecules. Two-dimensional tryptic peptide mapping analysis showed that the two identified molecules shared the same finger-printing pattern. A 40,000 fragment of the 87,000 molecule produced by protease digestion was precipitated by MAb 96.5 but not MAb 140.240, indicating that the epitopes recognized by the two antibodies are localized at discrete sites on the molecule. Serological studies on these two antibodies revealed slightly different binding patterns in the MAb 140.240 exhibited a more melanoma-restricted specificity, while MAb 96.5 had a specificity to melanoma and to some other cell types. The observed difference in epitope specificity may be important in the clinical applications of these antibodies. 相似文献
4.
Tafazzoli Zahra Nahidi Yalda Mashayekhi Goyonlo Vahid Morovatdar Negar Layegh Pouran 《Lasers in medical science》2021,36(3):631-640
Lasers in Medical Science - Treatment of cutaneous leishmaniasis (CL) continues to be a health concern, and alternative therapies with fewer side effects are substantially needed. This study aimed... 相似文献
5.
Birth plans—Impact on mode of delivery,obstetrical interventions,and birth experience satisfaction: A prospective cohort study
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Yalda Afshar MD PhD Jenny Y. Mei MD Kimberly D. Gregory MD MPH Sarah J. Kilpatrick MD PhD Tania F. Esakoff MD 《分娩》2018,45(1):43-49
Objective
To examine whether the presence of a birth plan was associated with mode of delivery, obstetrical interventions, and patient satisfaction.Methods
This was a prospective cohort study of singleton pregnancies greater than 34 weeks’ gestation powered to evaluate a difference in mode of delivery. Maternal characteristics, antenatal factors, neonatal characteristics, and patient satisfaction measures were compared between groups. Differences between groups were analyzed using chi‐squared for categorical variables, Fisher exact test for dichotomous variables, and Wilcoxon rank sum test for continuous or ordinal variables.Results
Three hundred women were recruited: 143 (48%) had a birth plan. There was no significant difference in the risk of cesarean delivery for women with a birth plan compared with those without a birth plan (21% vs 16%, adjusted odds ratio [adjOR] 1.11 [95% confidence interval (CI) 0.61‐2.04]). Women with a birth plan were 28% less likely to receive oxytocin (P < .01), 29% less likely to undergo artificial rupture of membranes (P < .01), and 31% less likely to have an epidural (P < .01). There was no difference in the length of labor (P = .12). Women with a birth plan were less satisfied (P < .01) and felt less in control (P < .01) of their birth experience than those without a birth plan.Conclusion
Women with and without a birth plan had similar odds of cesarean delivery. Though they had fewer obstetrical interventions, they were less satisfied with their birth experience, compared with women without birth plans. Further research is needed to understand how to improve childbirth‐related patient satisfaction. 相似文献6.
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Christian A. Skrabal Amir Khosravi Bernd Westphal Gustav Steinhoff 《Scandinavian cardiovascular journal : SCJ》2013,47(4):224-229
Objectives. In this study, the immuno- and neuroprotective effect of a novel cardiopulmonary bypass coating was investigated. Design. Thirty nine patients scheduled for elective coronary artery bypass grafting were randomly assigned to either PMEA-coated (n?=?19) or non-coated CPB circuits (n?=?20). Pericardial suction blood was separated and retransfused only if needed at the end of operation. Neurocognitive functions were examined preoperatively and 7–10 days postoperatively using a standard neuropsychological test battery. Assuming an inflammatory etiology, the most cogent inflammatory markers were perioperatively analyzed. Results. Postoperatively, patients of the PMEA-coated group performed better in Go/NoGo and Mini-Mental-test than patients of the non-coated group (p?<?0.04). Other neurocognitive testing did not reveal significant differences between the groups. Although most inflammatory parameters showed a significant intraindividual increase during or shortly after CPB, there was no difference in inflammatory alteration between the groups. Conclusions. PMEA-coating of cardiopulmonary bypass surfaces revealed some minor benefits in preservation of neurocognitive functions after surgery. The immediate inflammatory response remained mostly unaffected. Suction blood separation may additionally contribute to proper postoperative outcome. 相似文献
9.
AbstractWe aimed to explore the meaning of elder abuse and its sociocultural factors from the perspectives of Kurdish older people. We purposively selected the participants, 38 female and 17 male, from a rural area in Boukan country, Iran. Data were collected using semi-structured interviews and focus group discussions and were analyzed applying conventional content analysis. Researchers finally characterized viewpoints of the participants into two themes including structural changes in family interactions and changes in sociocultural values. Public education about moral norms and enactment of supportive laws for elderly people may help minimize elder abuse. 相似文献
10.
Emilie Ronin Charlotte Pouchy Maryam Khosravi Morgane Hilaire Sylvie Grgoire Armanda Casrouge Sahar Kassem David Sleurs Gaëlle H. Martin Nomie Chanson Yannis Lombardi Guilhem Lalle Harald Wajant Cdric Auffray Bruno Lucas Gilles Marodon Yenkel Grinberg-Bleyer Benoît L. Salomon 《Proceedings of the National Academy of Sciences of the United States of America》2021,118(13)