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2421por Macintyre, Geoff, Goranova, Teodora E., De Silva, Dilrini, Ennis, Darren, Piskorz, Anna M., Eldridge, Matthew, Sie, Daoud, Lewsley, Liz-Anne, Hanif, Aishah, Wilson, Cheryl, Dowson, Suzanne, Glasspool, Rosalind M., Lockley, Michelle, Brockbank, Elly, Montes, Ana, Walther, Axel, Sundar, Sudha, Edmondson, Richard, Hall, Geoff D., Clamp, Andrew, Gourley, Charlie, Hall, Marcia, Fotopoulou, Christina, Gabra, Hani, Paul, James, Supernat, Anna, Millan, David, Hoyle, Aoisha, Bryson, Gareth, Nourse, Craig, Mincarelli, Laura, Navarro Sanchez, Luis, Ylstra, Bauke, Jimenez-Linan, Mercedes, Moore, Luiza, Hofmann, Oliver, Markowetz, Florian, McNeish, Iain A., Brenton, James D.“…We show that HGSOC comprises a continuum of genomes shaped by multiple mutational processes that result in known patterns of genomic aberration. …”
Publicado 2018
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2422“…We identify several previously uncharacterised OPN4 mutations with altered functional properties, including attenuated or abolished light responses, as well as variants demonstrating abnormal response kinetics. …”
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2423“…Recent whole-exome sequencing study showed that the RAIDD mutations in the death domain (DD), including G128R, F164C, R170C, and R170H mutations, cause thin lissencephaly (TLIS) by reducing caspase-2-mediated neuronal apoptosis. …”
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2424por Azaiez, Hela, Booth, Kevin T., Ephraim, Sean S., Crone, Bradley, Black-Ziegelbein, Elizabeth A., Marini, Robert J., Shearer, A. Eliot, Sloan-Heggen, Christina M., Kolbe, Diana, Casavant, Thomas, Schnieders, Michael J., Nishimura, Carla, Braun, Terry, Smith, Richard J.H.“…We show that more than 96% of coding variants are rare and novel and that pathogenicity is driven by minor allele frequency thresholds, variant effect, and protein domain. The mutational landscape we define shows complex gene-specific variability, making an understanding of these nuances foundational for improved accuracy in variant interpretation in order to enhance clinical decision making and improve our understanding of deafness biology.…”
Publicado 2018
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2425por Ouwens, Klaasjan G., Jansen, Rick, Tolhuis, Bas, Slagboom, P. Eline, Penninx, Brenda W.J.H., Boomsma, Dorret I.“…Postzygotic mutations are DNA changes acquired from the zygote stage onwards throughout the lifespan. …”
Publicado 2018
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2426“…Pleiotropic effects of mutations underlie diverse biological phenomena such as ageing and specialization. …”
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2427“…By coupling genetic code reprogramming to deep mutational scanning, any number of amino acids can be exhaustively substituted into peptides, and single experiments can return all free energy changes of binding. …”
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2429por Akbari, Ali, Vitti, Joseph J., Iranmehr, Arya, Bakhtiari, Mehrdad, Sabeti, Pardis C., Mirarab, Siavash, Bafna, Vineet“…Methods to identify signatures of selective sweeps in population genomics data have been actively developed, but mostly do not identify the specific mutation favored by selection. We present a method, iSAFE, that uses a statistic derived solely from population genetics signals to accurately pinpoint the favored mutation in a large region (~5 Mbp). iSAFE does not require any knowledge of demography, specific phenotype under selection, or functional annotations of mutations.…”
Publicado 2018
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2430por Huang, Yiqiang, Wang, Lin-ang, Xie, Qiubo, Pang, Jian, Wang, Luofu, Yi, Yuting, Zhang, Jun, Zhang, Yao, Chen, Rongrong, Lan, Weihua, Zhang, Dianzheng, Jiang, Jun“…Of the 119 patients, two were identified with SDHB mutation and one with SDHD mutation. Immunohistochemical (IHC) staining was used to analyze the expression of these mutated genes. …”
Publicado 2018
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2431por Szuber, Natasha, Hanson, Curtis A., Lasho, Terra L., Finke, Christy, Ketterling, Rhett P., Pardanani, Animesh, Gangat, Naseema, Tefferi, AyalewEnlace del recurso
Publicado 2018
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2432por Balaji, Sai A., Shanmugam, Ashwini, Chougule, Anuradha, Sridharan, Srikant, Prabhash, Kumar, Arya, Anuradha, Chaubey, Aditya, Hariharan, Arun, Kolekar, Pandurang, Sen, Manimala, Ravichandran, Aarthi, Katragadda, Shanmukh, Sankaran, Satish, Bhargava, Saurabh, Kulkarni, Prashanth, Rao, Suchitra, Sunkavalli, Chinnababu, Banavali, Shripad, Joshi, Amit, Noronha, Vanita, Dutt, Amit, Bahadur, Urvashi, Hariharan, Ramesh, Veeramachaneni, Vamsi, Gupta, Vaijayanti“…Tumors were profiled using next‐generation sequencing (NGS) or quantitative PCR (qPCR), and the mutation status was queried in the matched plasma using digital platforms such as droplet digital PCR (ddCPR) or NGS for concordance. …”
Publicado 2018
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2433por Pacilli, Annalisa, Rotunno, Giada, Mannarelli, Carmela, Fanelli, Tiziana, Pancrazzi, Alessandro, Contini, Elisa, Mannelli, Francesco, Gesullo, Francesca, Bartalucci, Niccolò, Fattori, Giuditta Corbizi, Paoli, Chiara, Vannucchi, Alessandro M., Guglielmelli, Paola“…In patients receiving ruxolitinib, driver mutation type and high-molecular risk profile (HMR) at baseline did not impact on response rate, while HMR and sole ASXL1 mutations predicted for SVR loss at 3 years. …”
Publicado 2018
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2434por Cymbaluk-Płoska, Aneta, Chudecka-Głaz, Anita, Sompolska-Rzechuła, Agnieszka, Rasinska, Kamila, Dubiel, Paulina, Menkiszak, Janusz“…This study included 246 patients which consisted of 136 women with ovarian cancer without genetic mutation and 110 women with benign ovarian cysts. We created two mathematical logic models containing positive and negative risk factors of ovarian cancer such as: age at last menstruation cycle, patient age, OC, HRT, smoking, education status, and alcohol consumption. …”
Publicado 2018
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2435“…Mutations of a single gene can lead to a major increase in longevity in organisms ranging from yeast and worms to insects and mammals. …”
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2436“…Our method, called SCIΦ, jointly calls mutations in individual cells and estimates the tumor phylogeny among these cells. …”
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2437por Brown, Alexander J., Mao, Peng, Smerdon, Michael J., Wyrick, John J., Roberts, Steven A.“…Here, we assessed how nucleosome structure impacts the positions of UV-induced mutations in human melanomas. Analysis of mutation positions from cutaneous melanomas within strongly positioned nucleosomes revealed a striking ~10 base pair (bp) oscillation in mutation density with peaks occurring at dinucleotides facing away from the histone octamer. …”
Publicado 2018
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2438por Nunziata, Adriana, Funcke, Jan-Bernd, Borck, Guntram, von Schnurbein, Julia, Brandt, Stephanie, Lennerz, Belinda, Moepps, Barbara, Gierschik, Peter, Fischer-Posovszky, Pamela, Wabitsch, Martin“…Several case series of extreme early-onset obesity due to mutations in the human leptin receptor (LEPR) gene have been reported. …”
Publicado 2018
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2440por Marano, Massimo, Motolese, Francesco, Consoli, Federica, De Luca, Alessandro, Di Lazzaro, VincenzoEnlace del recurso
Publicado 2018
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