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4181por El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber“…Targeted NGS leads to the identification of a novel homozygous nonsense mutation c.2217G > A, p.(Trp739*) in the exon 16 of LAMA2. …”
Publicado 2021
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4182“…Furthermore, targeted double-stranded cDNA sequencing-based phase analysis detected the differential allelic expression, suggesting that the mutation (chr13:51958362;G>GG) caused downregulation of expression by nonsense-mediated mRNA decay. Our results indicate that targeted double-stranded cDNA sequencing-based phase analysis is useful for determining compound heterozygous mutations and confers information on allelic expression.…”
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4183por Pilsworth, Jessica A, Cochrane, Dawn R, Neilson, Samantha J, Moussavi, Bahar H, Lai, Daniel, Munzur, Aslı D, Senz, Janine, Wang, Yi Kan, Zareian, Sina, Bashashati, Ali, Wong, Adele, Keul, Jacqueline, Staebler, Annette, van Meurs, Hannah S, Horlings, Hugo M, Kommoss, Stefan, Kommoss, Friedrich, Oliva, Esther, Färkkilä, Anniina EM, Gilks, Blake, Huntsman, David G“…Inactivating mutations, including a splice site mutation in candidate tumor suppressor WNK2 and nonsense mutations in PIK3R1 and NLRC5, were identified at a low frequency in our cohort. …”
Publicado 2021
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4184por Liu, Haifeng, Wang, Yanchun, Li, Yangfang, Tao, Lvyan, Zhang, Yu, He, Xiaoli, Zhou, Yuantao, Liu, Xiaoning, Wang, Yan, Li, Li“…A novel frameshift WAS mutation (c.927delC, p.Q310Rfs∗135) and a known nonsense WAS mutation (c.1090C>T, p.R364X) were identified in Patient 1 and Patient 2, respectively. …”
Publicado 2021
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4185por Gui, Baoheng, Yu, Chenxi, Li, Xiaoxin, Zhao, Sen, Zhao, Hengqiang, Yan, Zihui, Cheng, Xi, Lin, Jiachen, Zheng, Haiyang, Shao, Jiashen, Zhao, Zhengye, Zhao, Lina, Niu, Yuchen, Zhao, Zhi, Wang, Huizi, Xie, Bobo, Wei, Xianda, Gui, Chunrong, Li, Chuan, Chen, Shaoke, Wang, Yi, Song, Yanning, Gong, Chunxiu, Zhang, Terry Jianguo, Fan, Xin, Wu, Zhihong, Chen, Yujun, Wu, Nan“…RESULTS: We identified 12 mutations in ROR2 in 21 patients, including 10 missense, one nonsense, and one frameshift. Among all missense variants, four recurrent missense variants [c.1675G > A(p.Gly559Ser), c.2212C > T(p.Arg738Cys), c.1930G > A(p.Asp644Asn), c.2117G > A(p.Arg706Gln)] were analyzed by experiments in vitro. …”
Publicado 2021
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4186por Liu, Xuguang, Huang, Xin, Bai, Yan, Zhang, Zhiwen, Jin, Tiefeng, Wu, Huanwen, Liang, Zhiyong“…Of the nine ZFPM1 mutations, seven were frameshift mutations, and the remaining two were nonsense mutations. Moreover, a significant concurrence of ZFPM1 and PI3K-AKT-mTOR mutations were revealed in the EPCs. …”
Publicado 2021
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4187“…The population consisted of 95 patients (48 males), median age at diagnosis 4.3 (range 0.8–17.2) and 12.6 (range 2.9–19.9) years at follow up, 27% familiar NF1, mostly nonsense or frameshift mutations. Neurological and/or visual symptoms were present in 64 (67.4%) patients. 63.6% of the tumors was in the optic pathway, 9.1% in the cerebellum. …”
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4188por Zhang, Yanjia Jason, Jimenez, Lissette, Azova, Svetlana, Kremen, Jessica, Chan, Yee-Ming, Elhusseiny, Abdelrahman M., Saeed, Hajirah, Goldsmith, Jeffrey, Al-Ibraheemi, Alyaa, O’Connell, Amy E., Kovbasnjuk, Olga, Rodan, Lance, Agrawal, Pankaj B., Thiagarajah, Jay R.“…We recently reported homozygous nonsense variants in WNT2B in three individuals with severe, neonatal-onset diarrhea, and intestinal failure. …”
Publicado 2021
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4189por Khalifa, Mohamed K., Bakr, Noha M., Ramadan, Amal, Abd Elwahab, Khaled M., Desoky, Esam, Nageeb, Amira M., Swellam, Menha“…RESULTS: Intronic BRCA1 mutation c.5050-104 C >T was reported among the four investigated bladder cancer patients, and three somatic mutations were reported as follows: two of them were found to be benign rs1064793056 and rs28897679 on the Clinivar database and one nonsense pathogenic variant rs80357006. BRCA 2 gene mutation reported an exonic synonymous mutation rs397507876 in the tissue and germline DNA. …”
Publicado 2021
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4190por Kondratyeva, Elena, Bukharova, Tatyana, Efremova, Anna, Melyanovskaya, Yuliya, Bulatenko, Natalia, Davydenko, Ksenia, Filatova, Alexandra, Skoblov, Mikhail, Krasovsky, Stanislav, Petrova, Nika, Polyakov, Alexander, Adyan, Tagui, Amelina, Elena, Shadrina, Vera, Zhekaite, Elena, Zodbinova, Aysa, Chernyak, Alexander, Zinchenko, Rena, Kutsev, Sergei, Goldshtein, Dmitry“…This frameshift produces a premature termination codon and triggers mRNA degradation by the nonsense-mediated decay (NMD) mechanism. Moreover, we observed that the c.3140-16T>A allele could produce a residual amount of normally spliced transcript, thus explaining the patient’s mild phenotype.…”
Publicado 2021
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4191por Gemmati, Donato, Longo, Giovanna, Franchini, Eugenia, Araujo Silva, Juliana, Gallo, Ines, Lunghi, Barbara, Moratelli, Stefano, Maestri, Iva, Serino, Maria Luisa, Tisato, Veronica“…We investigated a large family with severe, recurrent, early-onset VTE in which two sisters experienced VTE during pregnancies characterized by a perinatal in-utero thrombosis in the newborn and a life-saving pregnancy-interruption because of massive VTE, respectively. A nonsense mutation (CGA > TGA) generating a premature stop-codon (c.1171C>T; p.R391*) in the exon 6 of SERPINC1 gene (1q25.1) causing Antithrombin (AT) deficiency and the common missense mutation (c.1691G>A; p.R506Q) in the exon 10 of F5 gene (1q24.2) (i.e., FV Leiden; rs6025) were coinherited in all the symptomatic members investigated suspecting a cis-segregation further confirmed by STR-linkage-analyses [i.e., SERPINC1 IVS5 (ATT)(5–18), F5 IVS2 (AT)(6–33) and F5 IVS11 (GT)(12–16)] and SERPINC1 intragenic variants (i.e., rs5878 and rs677). …”
Publicado 2021
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4192por van Woerden, Geeske M., Bos, Melanie, de Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, de Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, van Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske“…The molecular spectrum of the identified TAOK1 variants comprises largely truncating and nonsense variants, but also missense variants, for which we provide evidence that they can have a loss of function or dominant‐negative effect on TAOK1, expanding the potential underlying causative mechanisms resulting in NDD. …”
Publicado 2021
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4193por Tibúrcio, Marta, Hitz, Eva, Niederwieser, Igor, Kelly, Gavin, Davies, Heledd, Doerig, Christian, Billker, Oliver, Voss, Till S., Treeck, Moritz“…Introduction of the identified nonsense mutation into the genome of wild-type parasite lines replicates the observed phenotype. …”
Publicado 2021
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4194por Nagy, Tauana Rodrigues, Maistro, Simone, Encinas, Giselly, Katayama, Maria Lucia Hirata, Pereira, Glaucia Fernanda de Lima, Gaburo-Júnior, Nelson, Franco, Lucas Augusto Moyses, de Gouvêa, Ana Carolina Ribeiro Chaves, Diz, Maria del Pilar Estevez, Leite, Luiz Antonio Senna, Folgueira, Maria Aparecida Azevedo Koike“…The most common PIK3CA mutation was found to be E454A. Nonsense and frameshift mutations, which may counteract the oncogenic potential of PIK3CA were also detected. …”
Publicado 2021
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4195por Gerber, Claire, Wang, Xueyan, David, Valentin, Quaggin, Susan E., Isakova, Tamara, Martin, Aline“…Because use of SGLT2 inhibitors in humans affects mineral metabolism, we investigated the long‐term effects of genetic loss of Sglt2 function on bone and mineral metabolism in mice. Slc5a2 nonsense mutation in Sweet Pee (SP) mice results in total loss of Sglt2 function. …”
Publicado 2021
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4196por Cairns, G., Burté, F., Price, R., O’Connor, E., Toms, M., Mishra, R., Moosajee, M., Pyle, A., Sayer, J. A., Yu-Wai-Man, P.“…We, therefore, characterised two wfs1 zebrafish knockout models harbouring nonsense wfs1a and wfs1b mutations. Both homozygous mutant wfs1a(−/−) and wfs1b(−/−) embryos showed significant morphological abnormalities in early development. …”
Publicado 2021
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4197por Biernacka, Elżbieta K., Borowiec, Karolina, Franaszczyk, Maria, Szperl, Małgorzata, Rampazzo, Alessandra, Woźniak, Olgierd, Roszczynko, Marta, Śmigielski, Witold, Lutyńska, Anna, Hoffman, Piotr“…Ten variants (5 frameshift, 2 nonsense, 2 splicing, and 1 missense) in PKP2 were found in 28 (50%) cases. …”
Publicado 2021
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4198“…The genetic testing performed in 28 patients revealed 27 cases with pathogenic variations of the SLC2A1 gene, including 10 missense, nine frameshift, three nonsense, three large fragment deletions, and two splice-site mutations. …”
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4199“…CONCLUSION: Trio-WES analysis identified a de novo nonsense variant (c.3043C>T) of ASXL3 gene in a Sudanese boy. …”
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4200por Qiu, Ye, Pan, Mianluan, Yang, Zhenming, Zeng, Wen, Zhang, Hui, Li, Zhengtu, Zhang, Jianquan“…CASE PRESENTATION: Herein, we report a case of an HIV-negative Chinese man with a severe, disseminated co-infection of Talaromyces marneffei and Mycobacterium tuberculosis, who had a high-titer of anti IFN-γ autoantibodies and a CFI heterozygous nonsense gene mutation. The patient rapidly developed sepsis and died. …”
Publicado 2022
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