Search Results - "Stockwell, Amy D"

Apolipoprotein L1 (APOL1) renal risk variant-mediated podocyte cytotoxicity depends on African haplotype and surface expression by Gupta, Nidhi, Waas, Bridget, Austin, Daniel, De Mazière, Ann M., Kujala, Pekka, Stockwell, Amy D., Li, Tianbo, Yaspan, Brian L., Klumperman, Judith, Scales, Suzie J.

“…Homozygous Apolipoprotein L1 (APOL1) variants G1 and G2 cause APOL1-mediated kidney disease, purportedly acting as surface cation channels in podocytes…”
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Multi-ancestry GWAS analysis identifies two novel loci associated with diabetic eye disease and highlights APOL1 as a high risk locus in patients with diabetic macular edema by Stockwell, Amy D, Chang, Michael C, Mahajan, Anubha, Forrest, William, Anegondi, Neha, Pendergrass, Rion K, Selvaraj, Suresh, Reeder, Jens, Wei, Eric, Iglesias, Victor A, Creps, Natalie M, Macri, Laura, Neeranjan, Andrea N, van der Brug, Marcel P, Scales, Suzie J, McCarthy, Mark I, Yaspan, Brian L

“…Diabetic retinopathy (DR) is a common complication of diabetes. Approximately 20% of DR patients have diabetic macular edema (DME) characterized by fluid…”
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Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics by Partanen, Juulia J., Häppölä, Paavo, Zhou, Wei, Lehisto, Arto A., Ainola, Mari, Sutinen, Eva, Allen, Richard J., Stockwell, Amy D., Leavy, Olivia C., Oldham, Justin M., Guillen-Guio, Beatriz, Cox, Nancy J., Hirbo, Jibril B., Schwartz, David A., Fingerlin, Tasha E., Flores, Carlos, Noth, Imre, Yaspan, Brian L., Jenkins, R. Gisli, Wain, Louise V., Ripatti, Samuli, Pirinen, Matti, Laitinen, Tarja, Kaarteenaho, Riitta, Myllärniemi, Marjukka, Daly, Mark J., Koskela, Jukka T.

“…The research of rare and devastating orphan diseases, such as idiopathic pulmonary fibrosis (IPF) has been limited by the rarity of the disease itself. The…”
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Identification of a Genetic Susceptibility Locus for Idiopathic Pulmonary Fibrosis in the 16p Subtelomere Using Whole-Genome Sequencing by Donoghue, Lauren J, Stockwell, Amy D, Neighbors, Margaret, Sheng, Rebecca X, Prabhakaran, Ramanandan, Wolters, Paul J, Lancaster, Lisa H, Kropski, Jonathan A, Blackwell, Timothy S, McCarthy, Mark I, Yaspan, Brian L

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A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration by Orozco, Luz D., Owen, Leah A., Hofmann, Jeffrey, Stockwell, Amy D., Tao, Jianhua, Haller, Susan, Mukundan, Vineeth T., Clarke, Christine, Lund, Jessica, Sridhar, Akshayalakshmi, Mayba, Oleg, Barr, Julie L., Zavala, Rylee A., Graves, Elijah C., Zhang, Charles, Husami, Nadine, Finley, Robert, Au, Elizabeth, Lillvis, John H., Farkas, Michael H., Shakoor, Akbar, Sherva, Richard, Kim, Ivana K., Kaminker, Joshua S., Townsend, Michael J., Farrer, Lindsay A., Yaspan, Brian L., Chen, Hsu-Hsin, DeAngelis, Margaret M.

“…Age-related macular degeneration (AMD) is a leading cause of blindness, affecting 200 million people worldwide. To identify genes that could be targeted for…”
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