Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, […]
Tag Archives: Humans
Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.
Hall JB, Cooke Bailey JN, Hoffman JD, Pericak-Vance MA, Scott WK, Kovach JL, Schwartz SG, Agarwal A, Brantley MA, Haines JL, Bush WS,. Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the elderly in developed countries and typically affects more than 10% of individuals over age 80. AMD has a […]
Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.
Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the elderly in developed countries and typically affects more than 10% of individuals over age 80. AMD has a large genetic component, with heritability estimated to be between 45% and 70%. Numerous variants have been identified and implicate various molecular mechanisms and […]
Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.
Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the elderly in developed countries and typically affects more than 10% of individuals over age 80. AMD has a large genetic component, with heritability estimated to be between 45% and 70%. Numerous variants have been identified and implicate various molecular mechanisms and […]
Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.
Hall JB, Cooke Bailey JN, Hoffman JD, Pericak-Vance MA, Scott WK, Kovach JL, Schwartz SG, Agarwal A, Brantley MA, Haines JL, Bush WS,. Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the elderly in developed countries and typically affects more than 10% of individuals over age 80. AMD has a […]
Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.
Propionic acidemia (PA) is an inborn of metabolism which usually presents with metabolic acidosis and accumulation of 3-hydroxypropionate among other toxins. Examining the gene expression in lymphoblastoid cell lines (LCLs) from PA patients, their carrier parents and age/sex-matched controls at normal glucose and low glucose growth conditions demonstrated differences among and between these groups. Using […]
Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.
Chapman KA, Bush WS, Zhang Z,. Propionic acidemia (PA) is an inborn of metabolism which usually presents with metabolic acidosis and accumulation of 3-hydroxypropionate among other toxins. Examining the gene expression in lymphoblastoid cell lines (LCLs) from PA patients, their carrier parents and age/sex-matched controls at normal glucose and low glucose growth conditions demonstrated differences […]
Sex-Specific Parental Effects on Offspring Lipid Levels.
Plasma lipid levels are highly heritable traits, but known genetic loci can only explain a small portion of their heritability.In this study, we analyzed the role of parental levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TGs) in explaining the values of the corresponding traits in adult offspring. […]
Sex-Specific Parental Effects on Offspring Lipid Levels.
Predazzi IM, Sobota RS, Sanna S, Bush WS, Bartlett J, Lilley JS, Linton MF, Schlessinger D, Cucca F, Fazio S, Williams SM,. Plasma lipid levels are highly heritable traits, but known genetic loci can only explain a small portion of their heritability.In this study, we analyzed the role of parental levels of total cholesterol (TC), […]
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
, Brat DJ, Verhaak RG, Aldape KD, Yung WK, Salama SR, Cooper LA, Rheinbay E, Miller CR, Vitucci M, Morozova O, Robertson AG, Noushmehr H, Laird PW, Cherniack AD, Akbani R, Huse JT, Ciriello G, Poisson LM, Barnholtz-Sloan JS, Berger MS, Brennan C, Colen RR, Colman H, Flanders AE, Giannini C, Grifford M, Iavarone A, […]
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
Diffuse low-grade and intermediate-grade gliomas (which together make up the lower-grade gliomas, World Health Organization grades II and III) have highly variable clinical behavior that is not adequately predicted on the basis of histologic class. Some are indolent; others quickly progress to glioblastoma. The uncertainty is compounded by interobserver variability in histologic diagnosis. Mutations in […]
Human islet preparations distributed for research exhibit a variety of insulin-secretory profiles.
Human islet research is providing new insights into human islet biology and diabetes, using islets isolated at multiple US centers from donors with varying characteristics. This creates challenges for understanding, interpreting, and integrating research findings from the many laboratories that use these islets. In what is, to our knowledge, the first standardized assessment of human […]