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    题名 作者 年代 出处 被引量
1Adsorption properties and inhibition of mild steel corrosion in sulphuric acid solution by ketoconazole: Experimental and theoretical investigation显示文摘I.B. Obot N.O. Obi-Egbedi 2009Corrosion Science2009,,1:1
2The formulation and use of mixed collectors in sulphide flotation显示文摘N.O. Lotter D.J. Bradshaw 2010Minerals Engineering2010,,11:1
3Risk Factors for Aspiration Pneumonia in Frail Older People: A Systematic Literature Review显示文摘Claar D. van der Maarel-Wierink Jacques N.O. Vanobbergen Ewald M. Bronkhorst Jos M.G.A. Schols Cees de Baat 2011Journal of the American Medical Directors Association2011,,5:1
4The use of iron oxide-coated ceramic membranes in removing natural organic matter and phenol from waters显示文摘B.I. Harman H. Koseoglu N.O. Yigit M. Beyhan M. Kitis 2010Desalination2010,,1:1
5Prediction of humic acids bioactivity using spectroscopy and multivariate analysis显示文摘N.O. Aguiar E.H. Novotny A.L. Oliveira V.M. Rumjanek F.L. Olivares L.P. Canellas 2012Journal of Geochemical Exploration2012,,:1
6青春期少女经前期综合征及相关症状Derman O. Kanbur N.O. Tokur T.E. Kutluk T. 张丽娟 2005世界核心医学期刊文摘(妇产科学分册)2005,0,4:0
7一单纯性头皮稀毛症墨西哥家系的CDSN基因无义突变显示文摘Background: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the comeodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin. Objectives: To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene. Patients/Methods: The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed. Results: By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation cosegregates perfectly in the fam-ily with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI. Conclusions: A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins.Dávalos N.O. Garca-Vargas A. Pforr J. R.C. Betz 冯义国 2006世界核心医学期刊文摘(皮肤病学分册)2006,2,3:0
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