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3661por Song, Shiying, Du, Bobo, Chung-Davidson, Yu-Wen, Cui, Wenyao, Li, Yaru, Chen, Honglin, Huang, Rong, Li, Weiming, Li, Fei, Wang, Chenghui, Ren, Jianfeng“…However, the developmental mechanisms of median fins remain largely unknown. Nonsense mutation of the T-box transcription factor eomesa in zebrafish results in a phenotype without dorsal fin. …”
Publicado 2023
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3662por Tian, Geng, Wang, Shubin, Wu, Jianhui, Wang, Yanxia, Wang, Xiutang, Liu, Shuwei, Han, Dejun, Xia, Guangmin, Wang, Mengcheng“…The full-length allele TaWD40-4B.1(C) but not the truncated allele TaWD40-4B.1(T) possessing a nonsense nucleotide variation enhances drought tolerance and grain yield of wheat under drought. …”
Publicado 2023
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3663por Abu-Diab, Alaa, Gopalakrishnan, Prakadeeswari, Matsevich, Chen, de Jong, Marije, Obolensky, Alexey, Khalaileh, Ayat, Salameh, Manar, Ejzenberg, Ayala, Gross, Menachem, Banin, Eyal, Sharon, Dror, Khateb, Samer“…We reported previously that a nonsense mutation in the centrosome-associated protein CEP250 gene (encoding C-Nap1) causes atypical USH in patients of Iranian Jewish origin. …”
Publicado 2023
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3664Tabla de Contenidos: “…In which I introduce the ancient mind-body problem, explain why I am on a quest to use reason and empirical inquiry to solve it, acquaint you with Francis Crick, explain how he relates to this quest, make a confession, and end on a sad note -- In which I write about the wellsprings of my inner conflict between religion and reason, why I grew up wanting to be a scientist, why I wear a lapel pin of Professor Calculus, and how I acquired a second mentor late in life -- In which I explain why consciousness challenges the scientific view of the world, how consciousness can be investigated empirically with both feet firmly planted on the ground, why animals share consciousness with humans, and why self-consciousness is not as important as many people think it is -- In which you hear tales of scientist-magicians that make you look but not see, how they track the footprints of consciousness by peering into your skull, why you don't see with your eyes, and why attention and consciousness are not the same -- In which you learn from neurologists and neurosurgeons that some neurons care a great deal about celebrities, that cutting the cerebral cortex in two does not reduce consciousness by half, that color is leached from the world by the loss of a small cortical region, and that the destruction of a sugar cube-sized chunk of brain stem or thalamic tissue leaves you undead -- In which I defend two propositions that my younger self found nonsense--you are unaware of most of the things that go on in your head, and zombie agents control much of your life, even though you confidently believe that you are in charge -- In which I throw caution to the wind, bring up free will, Der ring des Nibelungen, and what physics says about determinism, explain the impoverished ability of your mind to choose, show that your will lags behind your brain's decision, and that freedom is just another word for feeling -- In which I argue that consciousness is a fundamental property of complex things, rhapsodize about integrated information theory, how it explains many puzzling facts about consciousness and provides a blueprint for building sentient machines -- In which I outline an electromagnetic gadget to measure consciousness, describe efforts to harness the power of genetic engineering to track consciousness in mice, and find myself building cortical observatories -- In which I muse about final matters considered off-limits to polite scientific discourse: to wit, the relationship between science and religion, the existence of God, whether this God can intervene in the universe, the death of my mentor, and my recent tribulations.…”
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3665por Soderstrom, Catherine I., Larsen, Jennifer, Owen, Carolina, Gifondorwa, David, Beidler, David, Yong, Florence H., Conrad, Patricia, Neubert, Hendrik, Moore, Steven A., Hassanein, Mohamed“…Disease-causing variants include nonsense, out of frame deletions or duplications that result in loss of dystrophin protein expression. …”
Publicado 2022
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3666por Jaxybayeva, Altynshash, Chunkayeva, Dana, Myrzaliyeva, Bakhytkul, Ayaganov, Dinmukhamed, Lepessova, Marzhan, Bulekbayeva, Sholpan, Idrissova, Zhannat, Mukhambetova, Gulnar, Bayanova, Mirgul, Malfatti, Edoardo, Urtizberea, Andoni“…There were 58,33%of gross variations, of which 55,95%were deletions and 2,38%were duplications. Nonsense mutations were identified in 29,7%. CONCLUSION: The authors contend that strictly keeping the clinical guides in the diagnosis of DMD is essential, as the genetic variations may affect the stage and feasibility of novel therapies. …”
Publicado 2023
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3667“…To determine whether DMD mutation alters blood pressure, we compared systolic, diastolic, and mean blood pressure levels in mdx mice (a mouse model of DMD carrying a nonsense mutation in DMD gene) and the wide-type control mice. …”
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3668por Sriwattanapong, Kanokwan, Theerapanon, Thanakorn, Boonprakong, Lawan, Srijunbarl, Anucharte, Porntaveetus, Thantrira, Shotelersuk, Vorasuk“…Exome sequencing identified the novel compound heterozygous ITGB6 mutation, a nonsense c.625 G > T, p.(Gly209*) inherited from mother and a splicing c.1661-3 C > G from father, indicating AI type IH. …”
Publicado 2023
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3669por Yamaguchi, Tomomi, Hayashi, Shujiro, Hayashi, Daisuke, Matsuyama, Takeshi, Koitabashi, Norimichi, Ogiwara, Kenichi, Noda, Masaaki, Nakada, Chiai, Fujiki, Shinya, Furutachi, Akira, Tanabe, Yasuhiko, Yamanaka, Michiko, Ishikawa, Aki, Mizukami, Miyako, Mizuguchi, Asako, Sugiura, Kazumitsu, Sumi, Makoto, Yamazawa, Hirokuni, Izawa, Atsushi, Wada, Yuko, Fujikawa, Tomomi, Takiguchi, Yuri, Wakui, Keiko, Takano, Kyoko, Nishio, Shin‐Ya, Kosho, Tomoki“…Twenty cases (57.1%) had missense variants leading to glycine (Gly) substitutions in the triple helical domain, one (2.9%) had a missense variant leading to non‐Gly substitution in this domain, eight (22.9%) had splice site alterations, three (8.6%) had nonsense variants, two (5.7%) had in‐frame deletions, and one (2.9%) had a multi‐exon deletion, including two deceased patients analyzed with formalin‐fixed and paraffin‐embedded samples. …”
Publicado 2022
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3670por Dallagnol, Tabatha Nakakogue, Da Cás, Eduardo, Junior, Odery Ramos, Casali‐da‐Rocha, José Cláudio“…Of the 97 subjects whose presence of VHL variants was confirmed, 51 (52.6%) had missense variants, 22 (22.7%) large deletions, 10 (10.3%) frameshift, 7 (7.2%) splice site, 4 (4.1%) nonsense and 3 (3.1%) in‐frame deletions. Regarding surveillance, 115 (81%) participants had at least one physician responsible for their outpatient follow‐up; however, 69 (60%) of them did not report a regular frequency of tests. …”
Publicado 2023
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3671“…Although it has been previously reported that nonsense mutations in Golga3 cause multiple defects in spermatogenesis, the role of Golga3 in the testis is yet to be clarified. …”
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3672por He, Xin, Chen, Ying, Tang, Hao, Xu, Yujuan, Zhu, Xingyan, Wang, Caihong, Chen, Qiang, Guo, Deyu“…Microscopic examination revealed a tumor displaying a solid-cystic composition of eosinophilic cells with unique features, revealed by characteristic immunohistochemical markers (CK20-positive/CK7-negative), and a nonsense mutation in TSC2. Ten months after the renal tumor resection, the patient presented in good condition with no recurrence or metastasis. …”
Publicado 2023
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3673por Gersing, Sarah, Cagiada, Matteo, Gebbia, Marinella, Gjesing, Anette P., Coté, Atina G., Seesankar, Gireesh, Li, Roujia, Tabet, Daniel, Weile, Jochen, Stein, Amelie, Gloyn, Anna L., Hansen, Torben, Roth, Frederick P., Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus“…RESULT: Here, we exploit a multiplexed yeast complementation assay to measure both hyper- and hypoactive GCK variation, capturing 97% of all possible missense and nonsense variants. Activity scores correlate with in vitro catalytic efficiency, fasting glucose levels in carriers of GCK variants and with evolutionary conservation. …”
Publicado 2023
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3674por Negrete-Torres, Nancy, Chima-Galán, María del Carmen, Sierra-López, Ernesto Antonio, Sánchez-Ramos, Janet, Álvarez-González, Isela, Reyes-Reali, Julia, Mendoza-Ramos, María Isabel, Garrido-Guerrero, Efraín, Amato, Dante, Méndez-Catalá, Claudia Fabiola, Pozo-Molina, Glustein, Méndez-Cruz, Adolfo René“…The second patient has a previously reported compound heterozygous EVC2 mutation: nonsense mutation c.645G > A (p.W215*) in exon 5 inherited from her mother, and c.273dup (p.K92fs) in exon 2 inherited from her father. …”
Publicado 2023
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3675“…This was only possible with thresholds for mechanical stimuli, but not for thermal stimuli or sensitization responses, which were not sufficient to train an algorithm that could assign sex better than by guessing or when trained with nonsense (permuted) information. This enabled the translation to the molecular level of nociceptive targets that convert mechanical but not thermal information into signals interpreted as pain, which could eventually be used for pharmacological precision medicine approaches to pain. …”
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3676Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switchingpor Dawicki-McKenna, Jennine M., Felix, Alex J., Waxman, Elisa A., Cheng, Congsheng, Amado, Defne A., Ranum, Paul T., Bogush, Alexey, Dungan, Lea V., Maguire, Jean Ann, Gagne, Alyssa L., Heller, Elizabeth A., French, Deborah L., Davidson, Beverly L., Prosser, Benjamin L.“…We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and nonsense-mediated decay, and that antisense oligonucleotides (ASOs) that disrupt PTBP binding redirect splicing and increase SYNGAP1 mRNA and protein expression. …”
Publicado 2023
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3677“…Case 1 carried a de novo frameshift variant c.397delG (p.E133Nfs*43) in the proline-rich transmembrane protein 2 (PRRT2) gene while case 2 had a nonsense variant c.46G > T (p.Glu16*) inherited from the father, and cases 3–7 carried a heterozygous frameshift variant c.649dup (p.R217Pfs*8) in the same gene. …”
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3678por Zhu, Changyu, Soto-Feliciano, Yadira M, Morris, John P, Huang, Chun-Hao, Koche, Richard P, Ho, Yu-jui, Banito, Ana, Chen, Chun-Wei, Shroff, Aditya, Tian, Sha, Livshits, Geulah, Chen, Chi-Chao, Fennell, Myles, Armstrong, Scott A, Allis, C David, Tschaharganeh, Darjus F, Lowe, Scott W“…For example, missense and nonsense mutations targeting the mixed lineage leukemia family member 3 (MLL3, encoded by KMT2C) histone methyltransferase occur in a range of solid tumors, and heterozygous deletions encompassing KMT2C occur in a subset of aggressive leukemias. …”
Publicado 2023
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3679por Tansir, Ghazal, Rastogi, Sameer, Dubasi, Sravan Kumar, Chitikela, Sindhu, Reddy, Lavu Rohit, Barwad, Adarsh, Goyal, Ankur“…Of these nine mutations, the most common types were missense (n = 6, 66.6%) and nonsense (n = 2, 22.2%), and the commonest aberration was replacement of arginine with histidine (n = 4, 44.4%). …”
Publicado 2023
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3680por Musri, Melina Mara, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka“…Reduced SEC23B mRNA expression was only detected in two probands carrying nonsense and frameshift variants; the remaining patients showed either higher gene expression levels or no expression changes at all. …”
Publicado 2023
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