Genomic medicine最新文献

{"title":"Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.","authors":"Lyndon G Rosser,&nbsp;Shane McKee,&nbsp;David S Millar,&nbsp;Hayley Archer,&nbsp;James Hughes,&nbsp;Rachel Butler,&nbsp;Nadia Chuzhanova,&nbsp;David N Cooper,&nbsp;Lazarus P Lazarou","doi":"10.1007/s11568-008-9026-9","DOIUrl":"https://doi.org/10.1007/s11568-008-9026-9","url":null,"abstract":"<p><p>The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.1448_1461del14+29). Although these lesions occurred on the same paternally-derived X chromosome, this is probably due to chance co-occurrence owing to the relatively high mutation rate of the MECP2 gene rather than to a constitutional mutator phenotype.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-008-9026-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27690193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HGM 2008 population genetics and natural selection in man symposium abstracts.","authors":"","doi":"10.1007/s11568-009-9120-7","DOIUrl":"https://doi.org/10.1007/s11568-009-9120-7","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9120-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Micro RNA and non-coding DNA and repeats.","authors":"","doi":"10.1007/s11568-009-9109-2","DOIUrl":"https://doi.org/10.1007/s11568-009-9109-2","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9109-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"David N. Cooper and Hildegard Kehrer-Sawatzki (eds): Handbook of Human Molecular Evolution","authors":"Dhavendra Kumar","doi":"10.1007/s11568-009-9029-1","DOIUrl":"https://doi.org/10.1007/s11568-009-9029-1","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9029-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52839284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HGM2008 complex disease genomics I symposium abstracts (diabetes, cardiovascular and respiratory diseases).","authors":"","doi":"10.1007/s11568-009-9087-4","DOIUrl":"https://doi.org/10.1007/s11568-009-9087-4","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9087-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28180024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bioinformatics and statistical genomics.","authors":"","doi":"10.1007/s11568-009-9082-9","DOIUrl":"https://doi.org/10.1007/s11568-009-9082-9","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9082-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28180026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HGM2008 plenary abstracts: landscape of genomic variation.","authors":"","doi":"10.1007/s11568-009-9122-5","DOIUrl":"https://doi.org/10.1007/s11568-009-9122-5","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9122-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Karma, reincarnation, and medicine: Hindu perspectives on biomedical research.","authors":"Janis Faye Hutchinson,&nbsp;Richard Sharp","doi":"10.1007/s11568-009-9079-4","DOIUrl":"https://doi.org/10.1007/s11568-009-9079-4","url":null,"abstract":"<p><p>Prior to the completion of the Human Genome Project, bioethicists and other academics debated the impact of this new genetic information on medicine, health care, group identification, and peoples' lives. A major issue is the potential for unintended and intended adverse consequences to groups and individuals. When conducting research in, for instance, American Indian and Alaskan native (AI/AN) populations, political, cultural, religious and historical issues must be considered. Among African Americans, the Tuskegee Syphilis Experiment is a reminder of racism and discrimination in this country. The goal of the current study is to understand reasons for participating, or not, in genetic research such as the HapMap project and other genetic/medical research from the perspective of the Indian American community in Houston, Texas. In this article, we report on a topic central to this discussion among Indian Americans: karma and reincarnation. Both concepts are important beliefs when considering the body and what should happen to it. Karma and reincarnation are also important considerations in participation in medical and genetic research because, according to karma, what is done to the body can affect future existences and the health of future descendants. Such views of genetic and medical research are culturally mediated. Spiritual beliefs about the body, tissue, and fluids and what happens to them when separated from the body can influence ideas about the utility and acceptability of genetic research and thereby affect the recruitment process. Within this community it is understood that genetic and environmental factors contribute to complex diseases such as diabetes, hypertension, and cancer; and acknowledgment of the significance of environmental stressors in the production of disease. A commitment to service, i.e. \"betterment of humanity,\" karmic beliefs, and targeting environmental stressors could be prominent avenues for public health campaigns in this population. This study suggests that minority status does not automatically indicate unwillingness to participate in genetic or medical research. Indian Americans were not skeptical about the potential benefits of biomedical research in comparison to other ethnic minority communities in the United States.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9079-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28205005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HGM2008 special plenary abstracts.","authors":"","doi":"10.1007/s11568-009-9116-3","DOIUrl":"https://doi.org/10.1007/s11568-009-9116-3","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9116-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HGM2008 new technologies: genome sequencing to molecular imaging symposium abstracts.","authors":"","doi":"10.1007/s11568-009-9110-9","DOIUrl":"https://doi.org/10.1007/s11568-009-9110-9","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9110-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}