Results 71 to 80 of about 241,345 (301)

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source

Fine-mapping cis-regulatory variants in diverse human populations

eLife, 2019
Genome-wide association studies (GWAS) are a powerful approach for connecting genotype to phenotype. Most GWAS hits are located in cis-regulatory regions, but the underlying causal variants and their molecular mechanisms remain unknown.
Ashley Tehranchi, Brian Hie, Michael Dacre, Irene Kaplow, Kade Pettie, Peter Combs, Hunter B Fraser   +6 more
doaj   +1 more source

Network analysis of GWAS data [PDF]

Current Opinion in Genetics & Development, 2013
Genome-wide association studies (GWAS) identify genetic variants that distinguish a control population from a population with a specific trait. Two challenges in GWAS are: (1) identification of the causal variant within a longer haplotype that is associated with the trait; (2) identification of causal variants for polygenic traits that are caused by ...
Mark D M, Leiserson, Jonathan V, Eldridge, Sohini, Ramachandran, Benjamin J, Raphael   +3 more
openaire   +2 more sources

Natural Variation of NAR5 Determines Nitrogenase Activity and the Yield in Soybean

Advanced Science, EarlyView.
This study identified NAR5, a gene encoding a subtilisin‐like protease, that regulates nitrogenase activity in soybean nodules. Overexpressing NAR5 delayed nodule senescence, enhancing nitrogenase activity, yield, and low‐nitrogen tolerance. The elite haplotype NAR5HapI‐1 linked to superior nitrogenase activity and greater seed weight has been ...
Chao Ma, Hanyu Zhao, Haojie Feng, Xulun Dong, Lin Chen, Mingliang Yang, Runyi Chen, Chengjun Lei, Chunyan Liu, Qingshan Chen, Dawei Xin, Jinhui Wang   +11 more
wiley   +1 more source

Don't give up on GWAS [PDF]

Molecular Psychiatry, 2011
Buitelaar J, Bulik CM, Cichon S, Collier D, Corvin A, Craddock N, DeLisi LE, Ebstein R, Edenberg HJ, Estivill X, Faraone SV, Farmer AE, Fernandez-Aranda F, Flint J, Foroud T, Franke B, Gelernter J, Gill M, Grabe HJ, Hamilton SP, Hickie IB, Hoogendijk W, Jablensky A, Kalaydjieva L, Kaprio J, Kas M, Keller M, Kelsoe J, Kendler KS, Kennedy M, Kent L ...
Sullivan, P., Andreassen, Ole A, Anney, Richard J L, Asherson, Philip, Ashley-Koch, Allison, Blackwood, Douglas, Boomsma, Dorret I, Breen, Gerome, Buitelaar, Jan, Bulik, Cynthia M, Cichon, Sven, Collier, David, Corvin, Aiden, Craddock, Nicholas, DeLisi, Lynn E, Ebstein, Richard, Edenberg, Howard J, Estivill, Xavier, Faraone, Stephen V, Farmer, Anne E, Fernandez-Aranda, Fernando, Flint, Jonathan, Foroud, Tatiana, Franke, Barbara, Gelernter, Joel, Gill, Michael, Grabe, Hans J, Hamilton, Steven P, Hickie, Ian B, Hoogendijk, Witte, Jablensky, Assen, Kalaydjieva, Luba, Kaprio, Jaakko, Kas, Martien, Keller, Matthew, Kelsoe, John, Kendler, Kenneth S, Kennedy, Martin, Kent, Lindsey, Klump, Kelly, Knowles, James A, Levinson, Douglas F, Lewis, Cathryn M, Lichtenstein, Paul, Lucae, Susanne, Martin, Nicholas G, McCarroll, Steve, McGough, James, McGrath, John J, McGuffin, Peter, Mitchell, Philip, Mowry, Bryan, Muglia, Pierandrea, Müller-Myhsok, Bertram, Neale, Benjamin, Nöthen, Markus, Nurnberger, John I, Oades, Robert D., O'Donovan, Michael, Ophoff, Roel, Owen, Michael, Pato, Carlos N, Pato, Michele T, Penninx, Brenda W, Perlis, Roy H, Porjesz, Bernice, Posthuma, Danielle, Potash, James B, Preisig, Martin, Reichborn-Kjennerud, Ted, Rice, John P, Rietschel, Marcella, Riley, Brien, Ripke, Stephan, Rothenberger, Aribert, Rujescu, Dan, Santangelo, Susan L, Schachar, Russell, Schellenberg, Gerard D, Scherer, Stephen W, Schofield, Peter, Schulze, Thomas G, Sklar, Pamela, Smoller, Jordan W, Stefansson, Hreinn, Stefansson, Kari, Todorov, Alexandre, Tozzi, Federica, Tzeng, Jung-Ying, van den Oord, Edwin J. C. G., Vorstman, Jacob A S, Wang, Kai, Weissman, Myrna M, Werge, Thomas, Wray, Naomi R, Zeggini, Eleftheria   +95 more
openaire   +5 more sources

The Emerging Parkinson's Disease Oxylipin‐Ome

Advanced Science, EarlyView.
ABSTRACT Parkinson Disease (PD) is increasingly considered a proteinopathy and lipidopathy. This proteinopathy+lipidopathy paradigm has been further refined to a fatty acid (FA)‐opathy, centering dysregulated FA metabolism as fundamental in PD lipid dysfunction.
Julia C. Kelliher, Saranna Fanning
wiley   +1 more source

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

eLife, 2020
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears.
Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz, Aylin R Rodan, Clement Y Chow   +11 more
doaj   +1 more source

Shared genetic contribution of type 2 diabetes and cardiovascular disease: Implications for prognosis and treatment [PDF]

, 2018
Purpose of Review: The increased cardiovascular disease (CVD) risk in subjects with type 2 diabetes (T2D) is well established. This review collates the available evidence and assesses the shared genetic background between T2D and CVD: the causal ...
Strawbridge, Rona J., van Zuydam, Natalie R.   +1 more
core   +1 more source

Cross‐Modal Denoising and Integration of Spatial Multi‐Omics Data with CANDIES

Advanced Science, EarlyView.
In this paper, we introduce CANDIES, which leverages a conditional diffusion model and contrastive learning to effectively denoise and integrate spatial multi‐omics data. We conduct extensive evaluations on diverse synthetic and real datasets, CANDIES shows superior performance on various downstream tasks, including denoising, spatial domain ...
Ye Liu, Wanpeng Zou, Yuekai Li, Jiayi Wang, Mingxuan Cai, Hongmin Cai   +5 more
wiley   +1 more source

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 [PDF]

, 2018
Biliary atresia (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and eventual liver failure.
Bailey-Wilson, Joan E, Chen, Ying, Devoto, Marcella, Gilbert, Melissa A, Grochowski, Christopher M, Hakonarson, Hakon, Llewellyn, Jessica, Loomes, Kathleen M, Mceldrew, Deborah, Russo, Pierre, Spinner, Nancy B, Waisbourd-Zinman, Orith, Wells, Rebecca G   +12 more
core   +2 more sources