Suchergebnisse - "Gene Function"

An expression atlas of human primary cells: inference of gene function from coexpression networks von Mabbott, Neil A, Baillie, J Kenneth, Brown, Helen, Freeman, Tom C, Hume, David A

“… Background The specialisation of mammalian cells in time and space requires genes associated with specific pathways and functions to be co-ordinately …”
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Novel gene function revealed by mouse mutagenesis screens for models of age-related disease von Potter, Paul K., Bowl, Michael R., Jeyarajan, Prashanthini, Wisby, Laura, Blease, Andrew, Goldsworthy, Michelle E., Simon, Michelle M., Greenaway, Simon, Michel, Vincent, Barnard, Alun, Aguilar, Carlos, Agnew, Thomas, Banks, Gareth, Blake, Andrew, Chessum, Lauren, Dorning, Joanne, Falcone, Sara, Goosey, Laurence, Harris, Shelley, Haynes, Andy, Heise, Ines, Hillier, Rosie, Hough, Tertius, Hoslin, Angela, Hutchison, Marie, King, Ruairidh, Kumar, Saumya, Lad, Heena V., Law, Gemma, MacLaren, Robert E., Morse, Susan, Nicol, Thomas, Parker, Andrew, Pickford, Karen, Sethi, Siddharth, Starbuck, Becky, Stelma, Femke, Cheeseman, Michael, Cross, Sally H., Foster, Russell G., Jackson, Ian J., Peirson, Stuart N., Thakker, Rajesh V., Vincent, Tonia, Scudamore, Cheryl, Wells, Sara, El-Amraoui, Aziz, Petit, Christine, Acevedo-Arozena, Abraham, Nolan, Patrick M., Cox, Roger, Mallon, Anne-Marie, Brown, Steve D. M.

“… We have utilized N -ethyl- N -nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged …”
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Gut bacterial ClpB-like gene function is associated with decreased body weight and a characteristic microbiota profile von Arnoriaga-Rodríguez, María, Mayneris-Perxachs, Jordi, Burokas, Aurelijus, Pérez-Brocal, Vicente, Moya, Andrés, Portero-Otin, Manuel, Ricart, Wifredo, Maldonado, Rafael, Fernández-Real, José-Manuel

“… Specifically, the RA of Rikenellaceae , Clostridiaceae and not assigned Firmicutes  were lower in subjects with obesity and positively associated with gut bacterial ClpB-like gene function …”
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects von Merico, Daniele, Antaki, Danny, Shetty, Aniket, Gujral, Madhusudan, Brandler, William M, Malhotra, Dheeraj, Alexander, Madeline, Belliveau, Richard A, Bergen, Sarah E, Bertalan, Marcelo, Bevilacqua, Elizabeth, Cantor, Rita M, Carrera, Noa, Cormican, Paul, Crespo-Facorro, Benedicto, Curtis, David, Davidson, Michael, Degenhardt, Franziska, Del Favero, Jurgen, DeLisi, Lynn E, Dudbridge, Frank, Eichhammer, Peter, Eriksson, Johan, Essioux, Laurent, Farrell, Martilias S, Freedman, Robert, Freimer, Nelson B, Georgieva, Lyudmila, Gershon, Elliot S, Giegling, Ina, Godard, Stephanie, Goldstein, Jacqueline I, Hamshere, Marian L, Hartmann, Annette M, Hofman, Andrea, Kähler, Anna K, Kalaydjieva, Luba, Kelly, Brian J, Lee, S Hong, Legge, Sophie E, Lerer, Bernard, Levy, Deborah L, Maher, Brion S, Mattingsdal, Morten, McDonald, Colm, Metspalu, Andres, Milanova, Vihra, Morris, Derek W, Murray, Robin M, Nestadt, Gerald, Nicodemus, Kristin K, Nordin, Annelie, Oh, Sang-Yun, Olsen, Line, Van Os, Jim, Pantelis, Christos, Pers, Tune H, Powell, John, Price, Alkes, Pulver, Ann E, Purcell, Shaun M, Rasmussen, Henrik B, Richards, Alexander L, Roussos, Panos, Schall, Ulrich, Schwab, Sibylle G, Smoller, Jordan W, Spencer, Chris C A, Stahl, Eli A, Stroup, T Scott, Suvisaari, Jaana, Svrakic, Dragan M, Szatkiewicz, Jin P, Veijola, Juha, Waddington, John, Webb, Bradley T, Williams, Nigel M, Williams, Stephanie, Wolen, Aaron R, Adolfsson, Rolf, Blackwood, Douglas H R, Bramon, Elvira, Buxbaum, Joseph D, Collier, David A, Daly, Mark J, Darvasi, Ariel, Domenici, Enrico, Gill, Michael, Iwata, Nakao, Jablensky, Assen V, Jönsson, Erik G, Kirov, George, Knight, Jo, Levinson, Douglas F, Ophoff, Roel A, Owen, Michael J, Rietschel, Marcella, Rujescu, Dan, O'Donovan, Michael C, Neale, Benjamin M

“… The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease …”
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Systematic genome-wide screens of gene function von Carpenter, Anne E., Sabatini, David M.

“… Any observable phenotype can be screened using genome-wide collections of reagents or organisms, subject to practical limitations …”
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Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia von Hysi, Pirro G., Choquet, Hélène, Khawaja, Anthony P., Wojciechowski, Robert, Tedja, Milly S., Yin, Jie, Simcoe, Mark J., Patasova, Karina, Mahroo, Omar A., Thai, Khanh K., Cumberland, Phillippa M., Melles, Ronald B., Verhoeven, Virginie J. M., Vitart, Veronique, Segre, Ayellet, Stone, Richard A., Wareham, Nick, Hewitt, Alex W., Mackey, David A., Klaver, Caroline C. W., MacGregor, Stuart, Khaw, Peng T., Foster, Paul J., Guggenheim, Jeremy A., Rahi, Jugnoo S., Jorgenson, Eric, Hammond, Christopher J.

“… Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the …”
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Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes von Chauhan, Ganesh, Traylor, Matthew, Sargurupremraj, Muralidharan, Okada, Yukinori, Mishra, Aniket, Giese, Anne-Katrin, van der Laan, Sander W., Gretarsdottir, Solveig, Anderson, Christopher D., Almgren, Peter, Amouyel, Philippe, Bartz, Traci M., Benavente, Oscar R., Boncoraglio, Giorgio B., Butterworth, Adam S., Carrera, Caty, Chasman, Daniel I., Cotlarciuc, Ioana, Cruchaga, Carlos, de Bakker, Paul I. W., Duan, Qing, Gottesman, Rebecca F., Harris, Tamara B., Hassan, Ahamad, Havulinna, Aki S., Heckbert, Susan R., Hyacinth, Hyacinth I., Ikram, M. Arfan, Ingelsson, Erik, Jian, Xueqiu, Jukema, J. Wouter, Kanai, Masahiro, Keene, Keith L., Kissela, Brett M., Kleindorfer, Dawn O., Kooperberg, Charles, Lange, Leslie A., Langenberg, Claudia, Launer, Lenore J., Lemmens, Robin, Lewis, Cathryn M., Lin, Wei-Yu, Lorentzen, Erik, Magnusson, Patrik K., Meschia, James F., Mitchell, Braxton D., Mosley, Thomas H., Nalls, Michael A., O’Donnell, Martin J., Pulit, Sara L., Reiner, Alexander P., Ridker, Paul M., Rothwell, Peter M., Rotter, Jerome I., Sale, Michele M., Salomaa, Veikko, Sapkota, Bishwa R., Schmidt, Reinhold, Schmidt, Carsten O., Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L. M., Tanislav, Christian, Thijs, Vincent N. S., Thorsteinsdottir, Unnur, Tiedt, Steffen, Trompet, Stella, Wareham, Nicholas J., Wassertheil-Smoller, Sylvia, Wilson, James G., Pastinen, Tomi, Ruusalepp, Arno, Koplev, Simon, Björkegren, Johan L. M., Codoni, Veronica, Civelek, Mete, Christophersen, Ingrid E., Roselli, Carolina, Ellinor, Patrick T., Kato, Norihiro, van der Harst, Pim, Elliott, Paul, Takeuchi, Fumihiko, Johnson, Andrew D., Sanghera, Dharambir K., Melander, Olle, Strbian, Daniel, Fernandez-Cadenas, Israel, Rolfs, Arndt, Hata, Jun, Woo, Daniel, Pare, Guillaume, Hopewell, Jemma C., Saleheen, Danish, Stefansson, Kari, Worrall, Bradford B., Seshadri, Sudha, Markus, Hugh S., Debette, Stephanie, Dichgans, Martin

“… Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis …”
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Genome‐wide pathogenesis interpretation using a heat diffusion‐based systems genetics method and implications for gene function annotation von Quan, Yuan, Zhang, Qing‐Ye, Lv, Bo‐Min, Xu, Rui‐Feng, Zhang, Hong‐Yu

“… Background Genetics is best dedicated to interpreting pathogenesis and revealing gene functions …”
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Anolis Lizards as a Model System for Studies of Gene Function in Reptile Development and Evolution von Sabin, Christina E, Lauderdale, James D, Menke, Douglas B

“… These reptiles have been the subject of wide-ranging studies, from speciation and convergent evolution to climate adaptation and tail regeneration …”
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An Effective DNA Methylation Biomarker Screening Mechanism for Amyotrophic Lateral Sclerosis (ALS) Based on Comorbidities and Gene Function Analysis von Yang, Cing-Han, Huang, Jhen-Li, Tsai, Li-Kai, Taniar, David, Pai, Tun-Wen

“… to discover significant comorbidities for ALS subjects. Important and representative DNA methylation biomarker candidates could be effectively selected by cross-comparing …”
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The support of human genetic evidence for approved drug indications von Nelson, Matthew R, Tipney, Hannah, Painter, Jeffery L, Shen, Judong, Nicoletti, Paola, Shen, Yufeng, Floratos, Aris, Sham, Pak Chung, Li, Mulin Jun, Wang, Junwen, Cardon, Lon R, Whittaker, John C, Sanseau, Philippe

“… Matthew Nelson and colleagues investigate how well genetic evidence for disease susceptibility predicts drug mechanisms. They find a correlation between gene …”
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Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies a susceptibility locus at PLCE1 von Wang, Li-Dong, Zhou, Fu-You, Song, Xin, Jin, Yan, Li, Jiang-Man, Kong, Guo-Qiang, Cui, Juan, Zhang, Lian-Qun, Yang, Jie-Zhi, Li, Ji-Lin, Liu, Zhi-Cai, Gao, Wen-Jun, Yuan, Ling, Wei, Wu, Zhang, Yan-Rui, Wang, Wei-Peng, Sheyhidin, Ilyar, Li, Feng, Ren, Shu-Wei, Liu, Bin, Li, Dan, Ku, Jian-Wei, Fan, Zong-Min, Zhou, Sheng-Li, Zhao, Xue-Ke, Liu, Na, Ai, Yong-Hong, Shen, Fang-Fang, Cui, Wen-Yan, Huang, Jing, Yuan, Chao, Wu, Yue, Yue, Wen-Bin, Feng, Chang-Wei, Li, Hong-Lei, Wang, Yan, Lu, Yue, Yuan, Yi, Zhu, Wen-Liang, Liu, Min, Fu, Wen-Jing, Yang, Xia, Wang, Han-Jing, Han, Suo-Li, Chen, Jie, Han, Min, Wang, Hai-Yan, Zhang, Peng, Dong, Jin-Cheng, Xing, Guo-Lan, Guo, Ming, Chang, Zhi-Wei, Liu, Hai-Lin, Yuan, Zhi-Qing, Liu, Hai, Lu, Qin, Zhu, Fu-Guo, Yang, Xiu-Feng, Feng, Xiao-Shan, Wang, Zhou, Li, Yin, Qige, Qirenwang, Bai, Long-Tang, Yang, Wen-Jun, Chen, Long-Qi, Li, En-Min, Wu, Zhi-Yong, Cao, Wei-Ke, Wang, Jian-Po, Chen, Ji-Li, Ding, Guang-Cheng, Zhuang, Xiang, Zhou, Ying-Fa, Dong, Zi-Ming, Fan, Dong-Mei, He, Xin, Wang, Jin, Zhang, Qin-Xian, Jiao, Xin-Ying, Ji, Ai-Fang, Lu, Xiao-Mei, Wang, Jin-Sheng, Chang, Fu-Bao, Lu, Chang-Dong, Chen, Zhi-Guo, Fan, Zeng-Lin, Lin, Ruo-Bai, Liu, Tai-Jiang, Wei, Jin-Chang, Kong, Qing-Peng, Lan, Yu, Fan, Yu-Jing, Gao, Fu-Sheng, Wang, Tian-Yun, Xie, Dong, Chen, Shu-Qing, Yang, Wan-Cai, Hong, Jun-Yan, Qiu, Song-Liang, Cai, Zhi-Ming

“… ) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases …”
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RNA interference can be used to disrupt gene function in tardigrades von Tenlen, Jennifer R., McCaskill, Shaina, Goldstein, Bob

“… Tardigrades are also valuable research subjects for investigating how organisms and biological materials can survive extreme conditions …”
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects von Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger

“… Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we …”
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Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant von Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

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Machine Learning Techniques on Gene Function Prediction

“… : they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles …”
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Specific or not specific recruitment of DNMTs for DNA methylation, an epigenetic dilemma von Hervouet, Eric, Peixoto, Paul, Delage-Mourroux, Régis, Boyer-Guittaut, Michaël, Cartron, Pierre-François

“… Our current view of DNA methylation processes is strongly moving: First, even if it was generally admitted that DNMT3A and DNMT3B are associated with de novo …”
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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant von Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

“… Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct …”
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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans von Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A, Prescott, Trine E, Schroor, Eelco J, Verheij, Joke B G M, Witte, Merlijn, Zwijnenburg, Petra J, Vikkula, Mikka, Schulte-Merker, Stefan, Hennekam, Raoul C

“… Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary …”
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Genome alignment, evolution of prokaryotic genome organization, and prediction of gene function using genomic context von Wolf, Y I, Rogozin, I B, Kondrashov, A S, Koonin, E V

“… Gene order in prokaryotes is conserved to a much lesser extent than protein sequences. Only several operons, primarily those that code for physically …”
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