http://www.scribd.com/people/view/3462-danube2007 This a feed for documents on Scribd written by danube2007 30 Thu, 08 Mar 2007 18:59:17 GMT Thu, 08 Mar 2007 18:59:17 GMT http://www.scribd.com/doc/7023/Epigenetics-human-disease-annurev-genom-5-061903-180014 Annu. Rev. Genomics Hum. Genet. 2004. 5:479–510 doi: 10.1146/annurev.genom.5.061903.180014 Copyright c 2004 by Annual Reviews. All rights reserved First published online as a Review in Advance on June 1, 2004 EPIGENETICS AND HUMAN DISEASE Yong-hui Jiang, Jan Bressler, and Arthur L. Beaudet Annu. Rev. Genom. Human Genet. 2004.5:479-510. Downloaded from arjournals.annualreviews.org by UNIVERSITY OF PENNSYLVANIA LIBRARY on 03/03/07. For personal use only. Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine, Houston, Texas 77030; email: abeaudet@bcm.tmc.edu Thu, 08 Mar 2007 18:59:17 GMT http://www.scribd.com/doc/7023/Epigenetics-human-disease-annurev-genom-5-061903-180014 http://www.scribd.com/doc/7022/EvolutionaryFrameworkCommonDisease-hudson2005 Opinion TRENDS in Genetics Vol.21 No.11 November 2005 An evolutionary framework for common diseases: the ancestral-susceptibility model Anna Di Rienzo1 and Richard R. Hudson2 1 2 Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637, USA Unlike rare mendelian diseases, which are due to new mutations (i.e. derived alleles), several alleles that increase the risk to common diseases are ancestral. Moreover, population genetics studies suggest that some derived alleles that protect against commo Thu, 08 Mar 2007 18:59:14 GMT http://www.scribd.com/doc/7022/EvolutionaryFrameworkCommonDisease-hudson2005 http://www.scribd.com/doc/7021/Genetical-genomics-in-humans-model-organisms-2005 Update TRENDS in Genetics Vol.21 No.7 July 2005 377 Genetical genomics in humans and model organisms Dirk-Jan de Koning and Chris S. Haley The Roslin Institute, Roslin, Midlothian, UK, EH25 9PS Genetical genomics has been proposed to map loci controlling gene-expression differences (eQTLs) that might underlie functional trait variation. We briefly review the studies in model species and conclude that, although they successfully demonstrate the utility of genetical genomics, they are too limited to unlock the full potential of this approach and some results should be interpreted with cauti Thu, 08 Mar 2007 18:59:13 GMT http://www.scribd.com/doc/7021/Genetical-genomics-in-humans-model-organisms-2005 http://www.scribd.com/doc/7020/Howmanygenes-commoncomplexdiseases-2005 Published by Oxford University Press 2005 Advance Access publication 25 July 2005 International Journal of Epidemiology 2005;34:1129–1137 doi:10.1093/ije/dyi130 How many genes underlie the occurrence of common complex diseases in the population? Quanhe Yang,1* Muin J Khoury,2 JM Friedman,3 Julian Little4 and W Dana Flanders5 Accepted 31 May 2005 Background Most common human diseases are due to complex interactions among multiple genetic variants and environmental risk factors. There is debate over whether variants of a relatively small number of genes, each with weak or modest individual Thu, 08 Mar 2007 18:59:12 GMT http://www.scribd.com/doc/7020/Howmanygenes-commoncomplexdiseases-2005 http://www.scribd.com/doc/7019/kullo-tagSNPs European Journal of Human Genetics (2007) 15, 228–236 & 2007 Nature Publishing Group All rights reserved 1018-4813/07 $30.00 www.nature.com/ejhg ARTICLE Methods for the selection of tagging SNPs: a comparison of tagging efficiency and performance Keyue Ding1 and Iftikhar J Kullo*,1 1 Division of Cardiovascular Diseases, Mayo Clinic and Foundation, Rochester, MN, USA There is great interest in the use of tagging single nucleotide polymorphisms (tSNPs) to facilitate association studies of complex diseases. This is based on the premise that a minimum set of tSNPs may be sufficient to captu Thu, 08 Mar 2007 18:59:10 GMT http://www.scribd.com/doc/7019/kullo-tagSNPs http://www.scribd.com/doc/7018/Linkage-disequilibrium-patterns-vary-substantially-among-populations-2005 European Journal of Human Genetics (2005) 13, 677–686 & 2005 Nature Publishing Group All rights reserved 1018-4813/05 $30.00 www.nature.com/ejhg ARTICLE Linkage disequilibrium patterns vary substantially among populations Sarah L Sawyer1,3, Namita Mukherjee2,4, Andrew J Pakstis2, Lars Feuk1, Judith R Kidd2, Anthony J Brookes1,5,6 and Kenneth K Kidd*,2,6 1 2 Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius va 35, Stockholm 171 77, Sweden; ¨g Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520-8005, USA A major initiativ Thu, 08 Mar 2007 18:59:09 GMT http://www.scribd.com/doc/7018/Linkage-disequilibrium-patterns-vary-substantially-among-populations-2005 http://www.scribd.com/doc/7017/Regulatory-SNP-causes-new-promoter-2006 REPORTS A Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter Marco De Gobbi,1* Vip Viprakasit,2* Jim R. Hughes,1 Chris Fisher,1 Veronica J. Buckle,1 Helena Ayyub,1 Richard J. Gibbons,1 Douglas Vernimmen,1 Yuko Yoshinaga,3 Pieter de Jong,3 Jan-Fang Cheng,4 Edward M. Rubin,4 William G. Wood,1 Don Bowden,5 Douglas R. Higgs1‡ We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder a thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chrom Thu, 08 Mar 2007 18:59:08 GMT http://www.scribd.com/doc/7017/Regulatory-SNP-causes-new-promoter-2006 http://www.scribd.com/doc/7016/Applying-genomics-to-complex-diseases-2007-juran Applying Genomics to the Study of Complex Disease Brian D. Juran, B.S.,1 and Konstantinos N. Lazaridis, M.D.1 ABSTRACT The interest in dissecting the genetic and environmental components of complex human disease is growing, fueled by the emerging advances in the field of genomics and related disciplines. Improved understanding of the pathogenesis of complex liver diseases such as gallbladder stones, nonalcoholic fatty liver disease, viral hepatitis, and hepatocellular carcinoma remains a goal of the clinical and experimental hepatologist alike. Despite the scientific progress and technolog Thu, 08 Mar 2007 18:59:06 GMT http://www.scribd.com/doc/7016/Applying-genomics-to-complex-diseases-2007-juran http://www.scribd.com/doc/7014/Design-of-microarray-experiments-for-genetical-genomics-studies-2006 Copyright Ó 2006 by the Genetics Society of America DOI: 10.1534/genetics.106.057281 Design of Microarray Experiments for Genetical Genomics Studies ´ Julio S. S. Bueno Filho,* Steven G. Gilmour† and Guilherme J. M. Rosa‡,1 *Departamento de Ciencias Exatas, Universidade Federal de Lavras, Lavras, Minas Gerais 37200-000, Brazil, †School of Mathematical ˆ Sciences, Queen Mary, University of London, London E1 4NS, United Kingdom and ‡Department of Animal Science and Department of Fisheries and Wildlife, Michigan State University, East Lansing, Michigan 48824-1225 Manuscript received F Thu, 08 Mar 2007 18:59:03 GMT http://www.scribd.com/doc/7014/Design-of-microarray-experiments-for-genetical-genomics-studies-2006 http://www.scribd.com/doc/7013/Complexdesease-gender-epigenetics-2006 This article was downloaded by:[University of P ennsylvania] [University of P ennsylvania] O n: 3 March 2007 Access D etails: [subscription number 768516620] Publisher: Informa H e althcare Informa Ltd R egistered in E ngland and W ales R egistered Number: 1072954 R egistered office: Mortimer House, 37-41 Mortimer Stre et, London W1T 3JH, U K Publication details, including instructions for authors and subscription information: http://www.informaworld.com/smpp/title~content=t713699451 Annals of Medicine C omplex dise ase, gender and epigenetics To link to this article: D OI: 10.1080/07853890 Thu, 08 Mar 2007 18:59:01 GMT http://www.scribd.com/doc/7013/Complexdesease-gender-epigenetics-2006