An exciting animal model has become available that closely resembles human FH. Named after the investigator who first developed the strain, the Watanabe Heritable Hyperlipidemic (WHHL) rabbit has markedly elevated plasma cholesterol levels and spontaneously develops atherosclerosis and tissue xanthoma
{"title":"Animal Models: The Watanabe Heritable Hyperlipidemic Rabbit","authors":"B. J. Lenten","doi":"10.1159/000416892","DOIUrl":"https://doi.org/10.1159/000416892","url":null,"abstract":"An exciting animal model has become available that closely resembles human FH. Named after the investigator who first developed the strain, the Watanabe Heritable Hyperlipidemic (WHHL) rabbit has markedly elevated plasma cholesterol levels and spontaneously develops atherosclerosis and tissue xanthoma","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"12 1","pages":"125-138"},"PeriodicalIF":0.0,"publicationDate":"1989-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416892","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845049","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}
The aim of this presentation is to describe statistical methods that are currently available for detecting the contribution of single genes to traits determined by both genetic and environmental factors. These traits incluse common diseases such as coronary heart disease, and quantitative risk factors such as serum concentrations of lipoproteins and apolipoproteins
{"title":"Statistical Approaches to Identifying Major Locus Effects on Disease Susceptibility","authors":"J. Maccluer","doi":"10.1159/000416888","DOIUrl":"https://doi.org/10.1159/000416888","url":null,"abstract":"The aim of this presentation is to describe statistical methods that are currently available for detecting the contribution of single genes to traits determined by both genetic and environmental factors. These traits incluse common diseases such as coronary heart disease, and quantitative risk factors such as serum concentrations of lipoproteins and apolipoproteins","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"12 1","pages":"50-78"},"PeriodicalIF":0.0,"publicationDate":"1989-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416888","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845189","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}
By seeking DNA markers, or restriction fragment length polymorphisms (RFLPs), associated with the presence of atherosclerosis in clinically relevant populations, investigators in the field of molecular genetics make use of the role played by various genetic components in the genesis of the disease to develop prognostic tests which identify those individuals who carry an underlying genetic predisposition to develop atherosclerotic cardiovascular disease
{"title":"Using DNA markers to predict genetic susceptibility to atherosclerosis","authors":"P. Frossard, S. Vinogradov","doi":"10.1159/000416891","DOIUrl":"https://doi.org/10.1159/000416891","url":null,"abstract":"By seeking DNA markers, or restriction fragment length polymorphisms (RFLPs), associated with the presence of atherosclerosis in clinically relevant populations, investigators in the field of molecular genetics make use of the role played by various genetic components in the genesis of the disease to develop prognostic tests which identify those individuals who carry an underlying genetic predisposition to develop atherosclerotic cardiovascular disease","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"178 1","pages":"110-124"},"PeriodicalIF":0.0,"publicationDate":"1989-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416891","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845469","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}
The mouse provides a usful model system for examining the genetic control of lipoprotein metabolism, since, as compared to human studies, genetic and biochemical analyses are greatly simplified and environmental influences can be controlled. Here, we have compiled chromosomal maps of genes which are involved in lipid metabolism in humans and in mice
{"title":"Chromosomal Organization of Genes Involved in Plasma Lipoprotein Metabolism: Human and Mouse ‘Fat Maps’","authors":"A. Lusis, R. Sparkes","doi":"10.1159/000416889","DOIUrl":"https://doi.org/10.1159/000416889","url":null,"abstract":"The mouse provides a usful model system for examining the genetic control of lipoprotein metabolism, since, as compared to human studies, genetic and biochemical analyses are greatly simplified and environmental influences can be controlled. Here, we have compiled chromosomal maps of genes which are involved in lipid metabolism in humans and in mice","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"12 1","pages":"79-94"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416889","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845279","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}
For these reasons, monkeys are the most practical and valuable primate models for studying genetic and environmental influences on lipoprotein and cholesterol metabolism and atherosclerosis. The biggest drawbacks to the use of these primates as genetic models are: 1) the expense and complications of maintenance, and 2) the long gestation time and propensity to single births, factors which make genetic studies in monkeys infrequent and difficult
{"title":"Genetic Aspects of Plasma Lipoprotein and Cholesterol Metabolism in Nonhuman Primate Models of Atherosclerosis","authors":"K. Laber-Laird, L. Rudel","doi":"10.1159/000416894","DOIUrl":"https://doi.org/10.1159/000416894","url":null,"abstract":"For these reasons, monkeys are the most practical and valuable primate models for studying genetic and environmental influences on lipoprotein and cholesterol metabolism and atherosclerosis. The biggest drawbacks to the use of these primates as genetic models are: 1) the expense and complications of maintenance, and 2) the long gestation time and propensity to single births, factors which make genetic studies in monkeys infrequent and difficult","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"12 1","pages":"170-188"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416894","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845743","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":"Benzpyrene metabolism in human diploid fibroblasts.","authors":"W. Wöhler, C. Bartram, C. Schürer, H. Rüdiger","doi":"10.1159/000401586","DOIUrl":"https://doi.org/10.1159/000401586","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 1","pages":"165-70"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401586","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64812610","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":"Kinetic aspects of purine metabolism in cultured fibroblasts. A comparative study of cells from patients overproducing purines due to HGPRT deficiency and PRPP synthetase superactivity.","authors":"E. Zoref, A. De vries, O. Sperling","doi":"10.1159/000401574","DOIUrl":"https://doi.org/10.1159/000401574","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 1","pages":"96-9"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401574","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64812725","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":"Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.","authors":"N. Zöllner, F. Goebel, W. Gröbner","doi":"10.1159/000401578","DOIUrl":"https://doi.org/10.1159/000401578","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 1","pages":"112-5"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401578","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64812759","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}
Pub Date : 1978-07-01DOI: 10.1007/978-3-642-67002-2_10
Y. Nordmann, B. Grandchamp
{"title":"Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.","authors":"Y. Nordmann, B. Grandchamp","doi":"10.1007/978-3-642-67002-2_10","DOIUrl":"https://doi.org/10.1007/978-3-642-67002-2_10","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"51 3","pages":"217-22"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51014230","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}
M A Chester, G Lennartson, A Lundblad, J Lundsten, N E Nordén, S Sjöblad, S Svensson, P A Ockerman
{"title":"Isolation and characterization of oligosaccharides from urine of patients with abnormal glycoconjugate metabolism.","authors":"M A Chester, G Lennartson, A Lundblad, J Lundsten, N E Nordén, S Sjöblad, S Svensson, P A Ockerman","doi":"10.1159/000401555","DOIUrl":"https://doi.org/10.1159/000401555","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"2-6"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401555","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11322867","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}
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