Výsledky vyhľadávania - "Singleton, Andrew"

The genetic architecture of Parkinson's disease Autor Blauwendraat, Cornelis, Nalls, Mike A, Singleton, Andrew B

“…Parkinson's disease is a complex neurodegenerative disorder for which both rare and common genetic variants contribute to disease risk, onset, and progression…”
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Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance Autor Hernandez, Dena G., Reed, Xylena, Singleton, Andrew B.

“…Parkinson's disease is a common, progressive neurodegenerative disorder, affecting 3% of those older than 75 years of age. Clinically, Parkinson's disease (PD)…”
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Genetics of Parkinson's disease: An introspection of its journey towards precision medicine Autor Bandres-Ciga, Sara, Diez-Fairen, Monica, Kim, Jonggeol Jeff, Singleton, Andrew B.

“…A substantial proportion of risk for Parkinson's disease (PD) is driven by genetics. Progress in understanding the genetic basis of PD has been significant. So…”
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Genomewide Association Studies and Human Disease Autor Hardy, John, Singleton, Andrew

“…Genomewide association studies have uncovered many genetic variants that confer susceptibility to disease. This article describes the genomewide association…”
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Exome sequencing: a transformative technology Autor Singleton, Andrew B

“…Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding…”
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The genetics and neuropathology of Parkinson’s disease Autor Houlden, Henry, Singleton, Andrew B.

“…There has been tremendous progress toward understanding the genetic basis of Parkinson’s disease and related movement disorders. We summarize the genetic,…”
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The Evolution of Genetics: Alzheimer's and Parkinson's Diseases Autor Singleton, Andrew, Hardy, John

“…Genetic discoveries underlie the majority of the current thinking in neurodegenerative disease. This work has been driven by the significant gains made in…”
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Reply to: ‘Letter to the Editor on “Sex Differences in Parkinson's Disease Phenotype and Caregiving Disparities”’ Autor Antar, Tarek, Iwaki, Hirotaka, Singleton, Andrew

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Virus exposure and neurodegenerative disease risk across national biobanks Autor Levine, Kristin S, Leonard, Hampton L, Blauwendraat, Cornelis, Iwaki, Hirotaka, Johnson, Nicholas, Bandres-Ciga, Sara, Ferrucci, Luigi, Faghri, Faraz, Singleton, Andrew B, Nalls, Mike A

“…With recent findings connecting the Epstein-Barr virus to an increased risk of multiple sclerosis and growing concerns regarding the neurological impact of the…”
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Progress in the genetic analysis of Parkinson's disease Autor Singleton, Andrew, Hardy, John

“…The pace of genetic discovery in complex disease has accelerated exponentially over the last decade. Our fund of knowledge of the foundational genetics in…”
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The genetics of Parkinson's disease: Progress and therapeutic implications Autor Singleton, Andrew B., Farrer, Matthew J., Bonifati, Vincenzo

“…The past 15 years has witnessed tremendous progress in our understanding of the genetic basis for Parkinson's disease (PD). Notably, whereas most mutations,…”
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A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci Autor Chang, Diana, Nalls, Mike A, Hallgrímsdóttir, Ingileif B, Hunkapiller, Julie, van der Brug, Marcel, Cai, Fang, Kerchner, Geoffrey A, Ayalon, Gai, Bingol, Baris, Sheng, Morgan, Hinds, David, Behrens, Timothy W, Singleton, Andrew B, Bhangale, Tushar R, Graham, Robert R

“…Robert Graham and colleagues carried out a GWAS meta-analysis for Parkinson's disease (PD) and report 17 new risk loci. Their analyses support a key role for…”
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Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms Autor Blauwendraat, Cornelis, Heilbron, Karl, Vallerga, Costanza L., Bandres‐Ciga, Sara, von Coelln, Rainer, Pihlstrøm, Lasse, Simón‐Sánchez, Javier, Schulte, Claudia, Sharma, Manu, Krohn, Lynne, Siitonen, Ari, Iwaki, Hirotaka, Leonard, Hampton, Noyce, Alastair J., Tan, Manuela, Gibbs, J. Raphael, Hernandez, Dena G., Scholz, Sonja W., Jankovic, Joseph, Shulman, Lisa M., Lesage, Suzanne, Corvol, Jean‐Christophe, Brice, Alexis, van Hilten, Jacobus J., Marinus, Johan, Eerola‐Rautio, Johanna, Tienari, Pentti, Majamaa, Kari, Toft, Mathias, Grosset, Donald G., Gasser, Thomas, Heutink, Peter, Shulman, Joshua M., Wood, Nicolas, Hardy, John, Morris, Huw R., Hinds, David A., Gratten, Jacob, Visscher, Peter M., Gan‐Or, Ziv, Nalls, Mike A., Singleton, Andrew B.

“…Background Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome‐wide association studies (GWAS) have shed light on…”
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Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis Autor Tian, Ruilin, Abarientos, Anthony, Hong, Jason, Hashemi, Sayed Hadi, Yan, Rui, Dräger, Nina, Leng, Kun, Nalls, Mike A., Singleton, Andrew B., Xu, Ke, Faghri, Faraz, Kampmann, Martin

“…Single-cell transcriptomics provide a systematic map of gene expression in different human cell types. The next challenge is to systematically understand…”
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Genetic variability in the regulation of gene expression in ten regions of the human brain Autor Ramasamy, Adaikalavan, Trabzuni, Daniah, Guelfi, Sebastian, Varghese, Vibin, Smith, Colin, Walker, Robert, De, Tisham, Coin, Lachlan, de Silva, Rohan, Cookson, Mark R, Singleton, Andrew B, Hardy, John, Ryten, Mina, Weale, Michael E

“…Expression quantitative trait loci (eQTLs) are genomic regions that regulate gene expression. Here the authors provide a publicly available data set of…”
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A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states Autor Dräger, Nina M, Sattler, Sydney M, Huang, Cindy Tzu-Ling, Teter, Olivia M, Leng, Kun, Hashemi, Sayed Hadi, Hong, Jason, Aviles, Giovanni, Clelland, Claire D, Zhan, Lihong, Udeochu, Joe C, Kodama, Lay, Singleton, Andrew B, Nalls, Mike A, Ichida, Justin, Ward, Michael E, Faghri, Faraz, Gan, Li, Kampmann, Martin

“…Microglia are emerging as key drivers of neurological diseases. However, we lack a systematic understanding of the underlying mechanisms. Here, we present a…”
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Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain Autor Gibbs, J. Raphael, van der Brug, Marcel P., Hernandez, Dena G., Traynor, Bryan J., Nalls, Michael A., Lai, Shiao-Lin, Arepalli, Sampath, Dillman, Allissa, Rafferty, Ian P., Troncoso, Juan, Johnson, Robert, Zielke, H. Ronald, Ferrucci, Luigi, Longo, Dan L., Cookson, Mark R., Singleton, Andrew B.

“…A fundamental challenge in the post-genome era is to understand and annotate the consequences of genetic variation, particularly within the context of human…”
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Menopause accelerates biological aging Autor Levine, Morgan E, Lu, Ake T, Chen, Brian H, Hernandez, Dena G, Singleton, Andrew B, Ferrucci, Luigi, Bandinelli, Stefania, Salfati, Elias, Manson, JoAnn E, Quach, Austin, Kusters, Cynthia D J, Kuh, Diana, Wong, Andrew, Teschendorff, Andrew E, Widschwendter, Martin, Ritz, Beate R, Absher, Devin, Assimes, Themistocles L, Horvath, Steve

“…Although epigenetic processes have been linked to aging and disease in other systems, it is not yet known whether they relate to reproductive aging. Recently,…”
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Super‐Clausius–Clapeyron scaling of rainfall in a model squall line Autor Singleton, Andrew, Toumi, Ralf

“…The sensitivity of squall rainfall to changes in atmospheric temperature is investigated. For instantaneous rainrates and accumulations up to one hour, extreme…”
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Tackling neurodegenerative diseases with genomic engineering: A new stem cell initiative from the NIH Autor Ramos, Daniel M, Skarnes, William C, Singleton, Andrew B, Cookson, Mark R, Ward, Michael E

“…The iPSC Neurodegenerative Disease Initiative (iNDI) is the largest-ever iPSC genome engineering project. iNDI will model more than 100 mutations associated…”
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