Search Results - "Human molecular genetics"

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry by Pulit, Sara L, Stoneman, Charli, Morris, Andrew P, Wood, Andrew R, Glastonbury, Craig A, Tyrrell, Jessica, Yengo, Loïc, Ferreira, Teresa, Marouli, Eirini, Ji, Yingjie, Yang, Jian, Jones, Samuel, Beaumont, Robin, Croteau-Chonka, Damien C, Winkler, Thomas W, Hattersley, Andrew T, Loos, Ruth J F, Hirschhorn, Joel N, Visscher, Peter M, Frayling, Timothy M, Yaghootkar, Hanieh, Lindgren, Cecilia M

“…Abstract More than one in three adults worldwide is either overweight or obese. Epidemiological studies indicate that the location and distribution of excess…”
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Towards clinical utility of polygenic risk scores by Lambert, Samuel A, Abraham, Gad, Inouye, Michael

“…Abstract Prediction of disease risk is an essential part of preventative medicine, often guiding clinical management. Risk prediction typically includes risk…”
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Mendelian randomization: genetic anchors for causal inference in epidemiological studies by Davey Smith, George, Hemani, Gibran

“…Observational epidemiological studies are prone to confounding, reverse causation and various biases and have generated findings that have proved to be…”
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies by Dong, Chengliang, Wei, Peng, Jian, Xueqiu, Gibbs, Richard, Boerwinkle, Eric, Wang, Kai, Liu, Xiaoming

“…Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing pathogenic mutations from background polymorphisms in whole exome…”
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Long reads: their purpose and place by Pollard, Martin O, Gurdasani, Deepti, Mentzer, Alexander J, Porter, Tarryn, Sandhu, Manjinder S

“…Abstract In recent years long-read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently…”
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Hippocampal mutant APP and amyloid beta-induced cognitive decline, dendritic spine loss, defective autophagy, mitophagy and mitochondrial abnormalities in a mouse model of Alzheimer's disease by Manczak, Maria, Kandimalla, Ramesh, Yin, Xiangling, Reddy, P Hemachandra

“…Abstract The purpose of our study was to determine the toxic effects of hippocampal mutant APP and amyloid beta (Aβ) in 12-month-old APP transgenic mice. Using…”
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Genetics of glaucoma by Wiggs, Janey L, Pasquale, Louis R

“…Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading…”
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Mutant APP and amyloid beta-induced defective autophagy, mitophagy, mitochondrial structural and functional changes and synaptic damage in hippocampal neurons from Alzheimer's disease by Reddy, P Hemachandra, Yin, XiangLing, Manczak, Maria, Kumar, Subodh, Pradeepkiran, Jangampalli Adi, Vijayan, Murali, Reddy, Arubala P

“…Abstract The purpose of our study was to determine the toxic effects of hippocampal mutant APP (mAPP) and amyloid beta (Aβ) in human mAPP complementary DNA…”
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CRISPR/Cas9 for genome editing: progress, implications and challenges by Zhang, Feng, Wen, Yan, Guo, Xiong

“…Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) protein 9 system provides a robust and multiplexable genome editing…”
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Fat mass and obesity-associated (FTO) protein regulates adult neurogenesis by Li, Liping, Zang, Liqun, Zhang, Feiran, Chen, Junchen, Shen, Hui, Shu, Liqi, Liang, Feng, Feng, Chunyue, Chen, Deng, Tao, Huikang, Xu, Tianlei, Li, Ziyi, Kang, Yunhee, Wu, Hao, Tang, Lichun, Zhang, Pumin, Jin, Peng, Shu, Qiang, Li, Xuekun

“…Fat mass and obesity-associated gene (FTO) is a member of the Fe (II)- and oxoglutarate-dependent AlkB dioxygenase family and is linked to both obesity and…”
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LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network by Liu, Zhiyong, Bryant, Nicole, Kumaran, Ravindran, Beilina, Alexandra, Abeliovich, Asa, Cookson, Mark R, West, Andrew B

“…Abstract Human genetic studies implicate LRRK2 and RAB7L1 in susceptibility to Parkinson disease (PD). These two genes function in the same pathway, as…”
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Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project by Chen, Chien-Hsiun, Yang, Jenn-Hwai, Chiang, Charleston W K, Hsiung, Chia-Ni, Wu, Pei-Ei, Chang, Li-Ching, Chu, Hou-Wei, Chang, Josh, Song, I-Wen, Yang, Show-Ling, Chen, Yuan-Tsong, Liu, Fu-Tong, Shen, Chen-Yang

“…The Taiwan Biobank (TWB) aims to build a nationwide research database that integrates genomic/epigenomic profiles, lifestyle patterns, dietary habits,…”
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Hippocampal phosphorylated tau induced cognitive decline, dendritic spine loss and mitochondrial abnormalities in a mouse model of Alzheimer's disease by Kandimalla, Ramesh, Manczak, Maria, Yin, Xiangling, Wang, Rui, Reddy, P Hemachandra

“…Abstract The purpose of our study was to understand the toxic effects of hippocampal phosphorylated tau in tau mice. Using rotarod and Morris water maze (MWM)…”
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Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium by Sharp, Gemma C, Salas, Lucas A, Monnereau, Claire, Allard, Catherine, Yousefi, Paul, Everson, Todd M, Bohlin, Jon, Xu, Zongli, Huang, Rae-Chi, Reese, Sarah E, Xu, Cheng-Jian, Baïz, Nour, Hoyo, Cathrine, Agha, Golareh, Roy, Ritu, Holloway, John W, Ghantous, Akram, Merid, Simon K, Bakulski, Kelly M, Küpers, Leanne K, Zhang, Hongmei, Richmond, Rebecca C, Page, Christian M, Duijts, Liesbeth, Lie, Rolv T, Melton, Phillip E, Vonk, Judith M, Nohr, Ellen A, Williams-DeVane, ClarLynda, Huen, Karen, Rifas-Shiman, Sheryl L, Ruiz-Arenas, Carlos, Gonseth, Semira, Rezwan, Faisal I, Herceg, Zdenko, Ekström, Sandra, Croen, Lisa, Falahi, Fahimeh, Perron, Patrice, Karagas, Margaret R, Quraishi, Bilal M, Suderman, Matthew, Magnus, Maria C, Jaddoe, Vincent W V, Taylor, Jack A, Anderson, Denise, Zhao, Shanshan, Smit, Henriette A, Josey, Michele J, Bradman, Asa, Baccarelli, Andrea A, Bustamante, Mariona, Håberg, Siri E, Pershagen, Göran, Hertz-Picciotto, Irva, Newschaffer, Craig, Corpeleijn, Eva, Bouchard, Luigi, Lawlor, Debbie A, Maguire, Rachel L, Barcellos, Lisa F, Davey Smith, George, Eskenazi, Brenda, Karmaus, Wilfried, Marsit, Carmen J, Hivert, Marie-France, Snieder, Harold, Fallin, M Daniele, Melén, Erik, Munthe-Kaas, Monica C, Arshad, Hasan, Wiemels, Joseph L, Annesi-Maesano, Isabella, Vrijheid, Martine, Oken, Emily, Holland, Nina, Murphy, Susan K, Sørensen, Thorkild I A, Koppelman, Gerard H, Newnham, John P, Wilcox, Allen J, Nystad, Wenche, London, Stephanie J, Felix, Janine F, Relton, Caroline L

“…Pre-pregnancy maternal obesity is associated with adverse offspring outcomes at birth and later in life. Individual studies have shown that epigenetic…”
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Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes by Ezkurdia, Iakes, Juan, David, Rodriguez, Jose Manuel, Frankish, Adam, Diekhans, Mark, Harrow, Jennifer, Vazquez, Jesus, Valencia, Alfonso, Tress, Michael L

“…Determining the full complement of protein-coding genes is a key goal of genome annotation. The most powerful approach for confirming protein-coding potential…”
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Mitochondrial division inhibitor 1 reduces dynamin-related protein 1 and mitochondrial fission activity by Manczak, Maria, Kandimalla, Ramesh, Yin, Xiangling, Reddy, P Hemachandra

“…Abstract The purpose of our study was to better understand the effects of mitochondrial-division inhibitor 1 (Mdivi-1) on mitochondrial fission, mitochondrial…”
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Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9 by Shin, Jun Wan, Kim, Kyung-Hee, Chao, Michael J, Atwal, Ranjit S, Gillis, Tammy, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min

“…A comprehensive genetics-based precision medicine strategy to selectively and permanently inactivate only mutant, not normal allele, could benefit many…”
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Evaluating the potential role of pleiotropy in Mendelian randomization studies by Hemani, Gibran, Bowden, Jack, Davey Smith, George

“…Abstract Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely widespread in the human genome. If pleiotropy arises…”
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Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci by Demerath, Ellen W, Guan, Weihua, Grove, Megan L, Aslibekyan, Stella, Mendelson, Michael, Zhou, Yi-Hui, Hedman, Åsa K, Sandling, Johanna K, Li, Li-An, Irvin, Marguerite R, Zhi, Degui, Deloukas, Panos, Liang, Liming, Liu, Chunyu, Bressler, Jan, Spector, Tim D, North, Kari, Li, Yun, Absher, Devin M, Levy, Daniel, Arnett, Donna K, Fornage, Myriam, Pankow, James S, Boerwinkle, Eric

“…Obesity is an important component of the pathophysiology of chronic diseases. Identifying epigenetic modifications associated with elevated adiposity,…”
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A genome-wide association study of bitter and sweet beverage consumption by Zhong, Victor W, Kuang, Alan, Danning, Rebecca D, Kraft, Peter, van Dam, Rob M, Chasman, Daniel I, Cornelis, Marilyn C

“…Abstract Except for drinking water, most beverages taste bitter or sweet. Taste perception and preferences are heritable and determinants of beverage choice…”
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