FA 5 Progress Report WV-INBRE - Joan C. Edwards School of ...

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Program Director/Principal Investigator (Last, First, Middle): Rankin, Gary O 68hyperlipidemia diagnosis: an update. Vasc. Health Risk Manag. 3: 877-886 (2007)3. A Sniderman, SD Bailey, JC Engert. Familial combined hyperlipidemia: how can geneticdisorders be common, complex and comprehensible? Clin. Sci. 113: 356-367 (2007)4. AS Weirzbicki, CA Graham, IS Young, DP Nicholls. Familial Combined Hyperlipidaemia: Under-Defined and Under- Diagnosed? Curr. Vasc. Pharmacol. 6: 13-22 (2008)5. AG Motulsky and JD Brunzell. Genetics of coronary atherosclerosis. In: The Genetic Basis ofCommon Diseases. Edited by RA King, JI Rotter, and AG Motulsky. 2nd Edition.6. JL Goldstein, HG Schrott, WR Bierman, AG Motulsky. Hyperlipidemia in coronary heart diseaseII. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder,combined hyperlipidemia. J. Clin. Invest. 52: 1544-1568 (1973)7. EA Nikkila and A Aro. Family study of serum lipids and lipoproteins in coronary heart disease.Lancet 1: 954-959 (1973)8. E. Suviolahti,HE Lilja, P Pajukanta. Unraveling the complex genetics of familial combinedhyperlipidemia. Ann. Med. 38: 337-351 (2006)9. K Kristiansson, E Ilveskoski, T Lehtimaki, L Peltonen, M Perola, PJ Karhunen. AssociationAnalysis of Allelic Variants of USF1 in Coronary Atherosclerosis. Arterioscler. Thromb. Vasc. Biol.28: 983-989 (2008)10. P. Pajukanta, H Allayee, KL Krass, A Kuraishy, A Soro, HE Lilja, R Mar, M-R Taskinen, I Nuotio,M Laakso, JI Rotter, TWA de Bruin, RM Cantor, AJ Lusis, L Peltonen. Combined analysis ofgenome scans of Dutch and Finnish families reveals a susceptibility locus for high-densitylipoprotein cholesterol on chromosome 16q. Am. J. Hum. Genet. 72: 903-917 (2003)11. P Pajukanta, I Nuotio, JD Terwilliger, KVK Porkka, K Ylitalo, J Pihlajamaki, AJ Suomalainen, A-CSyvanen, T Lehtimaki, JSA Viikari, M Laakso, M-R Taskinen, C Ehnholm, L Peltonen. Linkage offamilial combined hyperlipidaemia to chromosome 1q21-q23. Nat. Genet. 18: 369-373 (1998)12. RP Naoumova, SA Bonney, S Eichhenbaum-Voline, HN Patel, B Jones, EL Jones, J Amey, SColilla, CKY Neuwirth, R Allotey, M Seed, DJ Betteridge, DJ Galton, NJ Cox, GI Bell, J Scott, CCShoulders. Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for thetriglyceride and cholesterol traits of combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol. 23:2070-2077 (2003)13. GM Dallinga-Thie, M van Linde-Sibenius Trip, JI Rotter, RM Cantor, X Bu, AJ Lusis and TW deBruin. Complex genetic contribution of the AI-CII-AIV gene cluster to familial combinedhyperlipidemia. J. Clin. Invest. 99: 953-961 (1997)14. BE Aouizerat, H Allayee, RM Cantor, RC Davis, CD Lanning, PZ Wen, GM Dallinga-Thie, TW deBruin, JI Rotter, AJ Lusis. A genome scan for familial combined hyperlipidemia reveals evidence oflinkage with a locus on chromosome 11. Am. J. Hum. Genet. 65:397-412 (1999).15. JA Cortner, PM Coates, and PR Gallagher. Prevalence and expression of familial combinedhyperlipidemia in childhood. J. Pediatr. 116: 514-519 (1990)16. R Shamir, AM Tershakovec, PR Gallaher, CA Liacouras, LL Hayman, JA Cortner. The influenceof age and relative weight on the presentation of familial combined hyperlipidemia in childhood.Atherosclerosis 121: 85-91 (1996)17. L Pisciotta, T Fasano, L Calabresi, A Bellocchio, R Fresa, C Borrini, S Calandra, S Bertolini. Anovel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia.Atherosclerosis 198: 145-151 (2008)18. P. Pajukanta, HE Lilja, JS Sinsheimer, RM Cantor, AJ Lusis, M Gentile, XJ Duan, ASoro-Paavonen, J Naukkarinen, J Saarela, M Laakso, C Ehnholm, MR Taskinen, L Peltonen.Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nat.Genet. 36: 371-376 (2004)19. J Naukkarinen, M Gentile, A Soro-Paavonen, J Saarela, HA Koistinen, P Pajukanta, M Taskinen,and L Peltonen. USF1 and dyslipidemias: converging evidence for a functional intronic variant.Hum. Mol. Genet. 14: 2595-2605 (2005)20. A Huertas-Vazquez, CL Plaisier, R Geng, BE Haas, J Lee, MM Greevenbroek, C van der Kallen,TW de Bruin, MR Taskinen, KN Alagramam, P Pajukanta. A nonsynonymous SNP within PCDH15PHS 2590 (Rev. 06/09)Continuation Format Page
Program Director/Principal Investigator (Last, First, Middle): Rankin, Gary O 69is associated with lipid traits in familial combined hyperlipidemia. Hum. Genet. 127: 83-9, 2010.21. GS Berenson, SR Srinivasan, W Bao, WPIII Newman, RE Tracy, WA Wattigney. Associationbetween multiple cardiovascular risk factors and the early development of atherosclerosis.Bogalusa Heart Study. N. Engl. J. Med. 338:1650–1656 (1998)22. SR Daniels, FR Greer, and the Committee on Nutrition. Lipid Screening and CardiovascularHealth in Childhood Pediatrics 122: 198-208 (2008)23. Y Kuromori, T Okada, F Iwata, M Hara, N Noto, K Harada. Familial combined hyperlipidemia(FCHL) in children: The significance of early development of hyperapoB lipoproteinemia, obesityand aging. J. Atheroscler. Throm. 9: 314-320 (2002)24. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as acause of Kabuki syndrome. Nature Genetics 2010(a), 42:790-3.25. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendeliandisorder. Nature Genetics 2010(b), 42:30-35.26. Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, ShiannaKV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, GoldsteinDB. Whole-genome sequencing of a single proband together with linkage analysis identifies aMendelian disease gene. PLoS Genetics 2010, 6:e100099127. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease throughwhole-genome sequencing. Nature Reviews Genetics 2010, 11:415-25.28. Civeira F, Jarauta E, Cenarro A, et al. Frequency of Low-Density Lipoprotein Receptor GeneMutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a ClinicalSetting. Journal of the American College of Cardiology 2008, 52:1546-53.29. Jarvik GP, Brunzell JD, Motulsky AG. Frequent Detection of Familial HypercholesterolemiaMutations in Familial Combined Hyperlipidemia. Journal of the American College of Cardiology2008, 52:1554-6.30. Van Leuven F, Thiry E, Lambrechts M, et al. Sequencing of the coding exons of the LRP1 andLDLR genes on individual DNA samples reveals novel mutations in both genes. Atherosclerosis2001, 154:567-577.PROTECTION AGAINST RESEARCH RISKSY 1. Will human subjects be involved next year?If yes, provide complete the above Targeted/Planned Enrollment Table and the Inclusion EnrollmentReport. Provide the date of IRB approval and enclose with transmittal.03/25/2011;01/25/2012N 2. Will vertebrate animals be used next year?Y 3. Will recombinant DNA experiment(s) be conducted next year?If yes, provide the date of Office of Recombinant DNA Activities (ORDA), NIH approval:EXEMPTY 4. Are there potential hazards to laboratory workers (carcinogens, pathogens, ionizing radiation, etc.)involved in the proposed research for next year? If yes, identify:NBloodborne pathogens, human cell lines5. Will any of the research-risk categories,not involved next year, be involved future years? If yes, identify:PHS 2590 (Rev. 06/09)Continuation Format Page
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