Materias dentro de su búsqueda.
Mostrando 4,501 - 4,520 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.22s Limitar resultados
  1. 4501
    “…The most common types of detected variants were missense (44/102, 43.14%), followed by frameshift (27/102, 26.47%), nonsense (14/102, 13.72%), splice site (10/102, 9.80%), in frame (4/102, 3.92%), non-coding (2/102, 1.96%) and synonymous (1/102, 0.98%). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
  2. 4502
    “…Variants were prioritized by being shared between the three patients affected with orchitis, absent in controls, and introducing nonsense, frameshift, splicing or non‐synonymous amino acid changes and less than 10% in population prevalence. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID orchitis in Brothers
  3. 4503
    “…Advances in genome sequencing have identified multiple candidate genes associated with ASD, including dozens of missense and nonsense mutations in the NMDAR subunit GluN2B, encoded by GRIN2B. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Disruption of grin2B, an ASD-associated gene, produces social deficits in zebrafish
  4. 4504
    “…Neither the type of SRD5A2 variant (missense, nonsense, indel) nor zygosity (homo/hetero) impacted sex assignment or gender change. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    RF02 | PMON189 Temporal and Social trends towards sex assignment and gender change in the 5α-reductase type 2 deficiency
  5. 4505
    “…The patient was screened with a panel of 14 susceptibility genes for PPGLs (INVITAE, CA, USA) that revealed a pathogenic germline nonsense heterozygous MAX mutation (c.223C>Tp. Arg75*). …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    ODP051 Presymptomatic Genetic Screening Leading to the Diagnosis of Paraganglioma Associated with Duodenal and Pancreatic Neuroendocrine Tumours in a Carrier of a Pathogenic MAX Variant
  6. 4506
    por Worthy, Charlita
    Publicado 2022
    “…GP-MEN1 patients were also categorized into high-impact (nonsense, frameshift, splice site, whole or partial gene deletion) or low-impact (missense or in-frame indels) mutation-bearing groups. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    RF27 | LBSUN361 Understanding The Genetics Of Multiple Endocrine Neoplasia Type 1: The Road Ahead
  7. 4507
    “…This newly discovered variant is not currently included in the ClinVar and HGMD databases. p.Arg229* resulted in a premature stop codon in exon 4, and bioinformatics analysis suggests that the truncated protein structure lost its domain of interaction with factor IX (Ala414 site) after the deletion of nonsense mutations. However, considering the AT truncation protein resulting from the p.Arg229* variant loss a great proportion of the molecule, we speculate the variant may affect two functional domains HBS and RCL and lack of the corresponding function. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency
  8. 4508
    “…However, BrS phenotypes were not identified in other affected individuals and allelic KCNQ1 expression testing in patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) showed nonsense mediated decay of the c.1124_1127delTTCA allele. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
  9. 4509
    “…In LAMA2-CMD, splicing variants tended to be associated with a relatively mild phenotype. Nonsense variants were more frequent in LAMA2-CMD (56.9%, 66/116) than in LGMDR23 (21.4%, 3/14), while missense disease-causing variants were more frequent in LGMDR23 (71.4%, 10/14) than in LAMA2-CMD (12.9%, 15/116). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
  10. 4510
    “…The remaining 5 groups were treated differently on the basis of the HLI (the femoral artery and vein from the inguinal ligament to the knee joint were transected and the vascular stump was ligated with 7-0 silk sutures) model: (2) HLI+NS group (N = 15): 0.2 ml NS was gavaged daily for 3 days before modeling and 14 days after occlusion; (3) HLI+BHD group (N = 15): 0.2 ml BHD (20 g/kg/day) was gavaged daily for 3 days before modeling and 14 days after occlusion; (4) HLI+BHD+sh-NC group (N = 8): local injection of adenovirus vector carrying the nonsense shRNA (Ad-GFP) in the hindlimbs of mice before treatment; (5) HLI+BHD+sh-NRF2 group (N = 8): knockdown of NRF2 in the hindlimbs of mice by local intramuscular injection of adenovirus vector carrying NRF2 shRNA (Ad-NRF2-shRNA) before treatment; and (6) HLI+BHD+LY294002 group (N = 4): intravenous injection of LY294002 (1.5 mg/kg) once a day for 14 days on the basis of the HLI+BHD group. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Buyang Huanwu Decoction Enhances Revascularization via Akt/GSK3β/NRF2 Pathway in Diabetic Hindlimb Ischemia
  11. 4511
    por Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi, Kanako O, Barrero, Roberto A, Tamura, Takuro, Yamaguchi-Kabata, Yumi, Tanino, Motohiko, Yura, Kei, Miyazaki, Satoru, Ikeo, Kazuho, Homma, Keiichi, Kasprzyk, Arek, Nishikawa, Tetsuo, Hirakawa, Mika, Thierry-Mieg, Jean, Thierry-Mieg, Danielle, Ashurst, Jennifer, Jia, Libin, Nakao, Mitsuteru, Thomas, Michael A, Mulder, Nicola, Karavidopoulou, Youla, Jin, Lihua, Kim, Sangsoo, Yasuda, Tomohiro, Lenhard, Boris, Eveno, Eric, Suzuki, Yoshiyuki, Yamasaki, Chisato, Takeda, Jun-ichi, Gough, Craig, Hilton, Phillip, Fujii, Yasuyuki, Sakai, Hiroaki, Tanaka, Susumu, Amid, Clara, Bellgard, Matthew, Bonaldo, Maria de Fatima, Bono, Hidemasa, Bromberg, Susan K, Brookes, Anthony J, Bruford, Elspeth, Carninci, Piero, Chelala, Claude, Couillault, Christine, de Souza, Sandro J., Debily, Marie-Anne, Devignes, Marie-Dominique, Dubchak, Inna, Endo, Toshinori, Estreicher, Anne, Eyras, Eduardo, Fukami-Kobayashi, Kaoru, R. Gopinath, Gopal, Graudens, Esther, Hahn, Yoonsoo, Han, Michael, Han, Ze-Guang, Hanada, Kousuke, Hanaoka, Hideki, Harada, Erimi, Hashimoto, Katsuyuki, Hinz, Ursula, Hirai, Momoki, Hishiki, Teruyoshi, Hopkinson, Ian, Imbeaud, Sandrine, Inoko, Hidetoshi, Kanapin, Alexander, Kaneko, Yayoi, Kasukawa, Takeya, Kelso, Janet, Kersey, Paul, Kikuno, Reiko, Kimura, Kouichi, Korn, Bernhard, Kuryshev, Vladimir, Makalowska, Izabela, Makino, Takashi, Mano, Shuhei, Mariage-Samson, Regine, Mashima, Jun, Matsuda, Hideo, Mewes, Hans-Werner, Minoshima, Shinsei, Nagai, Keiichi, Nagasaki, Hideki, Nagata, Naoki, Nigam, Rajni, Ogasawara, Osamu, Ohara, Osamu, Ohtsubo, Masafumi, Okada, Norihiro, Okido, Toshihisa, Oota, Satoshi, Ota, Motonori, Ota, Toshio, Otsuki, Tetsuji, Piatier-Tonneau, Dominique, Poustka, Annemarie, Ren, Shuang-Xi, Saitou, Naruya, Sakai, Katsunaga, Sakamoto, Shigetaka, Sakate, Ryuichi, Schupp, Ingo, Servant, Florence, Sherry, Stephen, Shiba, Rie, Shimizu, Nobuyoshi, Shimoyama, Mary, Simpson, Andrew J, Soares, Bento, Steward, Charles, Suwa, Makiko, Suzuki, Mami, Takahashi, Aiko, Tamiya, Gen, Tanaka, Hiroshi, Taylor, Todd, Terwilliger, Joseph D, Unneberg, Per, Veeramachaneni, Vamsi, Watanabe, Shinya, Wilming, Laurens, Yasuda, Norikazu, Yoo, Hyang-Sook, Stodolsky, Marvin, Makalowski, Wojciech, Go, Mitiko, Nakai, Kenta, Takagi, Toshihisa, Kanehisa, Minoru, Sakaki, Yoshiyuki, Quackenbush, John, Okazaki, Yasushi, Hayashizaki, Yoshihide, Hide, Winston, Chakraborty, Ranajit, Nishikawa, Ken, Sugawara, Hideaki, Tateno, Yoshio, Chen, Zhu, Oishi, Michio, Tonellato, Peter, Apweiler, Rolf, Okubo, Kousaku, Wagner, Lukas, Wiemann, Stefan, Strausberg, Robert L, Isogai, Takao, Auffray, Charles, Nomura, Nobuo, Gojobori, Takashi, Sugano, Sumio
    Publicado 2004
    “…In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones
  12. 4512
    “…The presence of many nonsensical nodes affects the detection efficiency. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    An Android Malware Detection Approach to Enhance Node Feature Differences in a Function Call Graph Based on GCNs
  13. 4513
    “…The fMRI punchline based humor comprehension task consisted of 60 stories of which 20 had funny, 20 nonsensical and 20 neutral (not funny) punchlines. After the punchlines were presented, the participants were asked to indicate whether the story was comprehensible and how funny it was. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Neural circuit of verbal humor comprehension in schizophrenia - an fMRI study
  14. 4514
    “…Such an analysis is not available in the literature, whereas common “explanations” of the apparatus are evidently nonsensical. We constructed a zograscope, using modern parts, and present psychophysical data on its performance.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Zograscopic viewing
  15. 4515
    “…Conveying our findings matters, for when we use local extinction, an essentially nonsensical phrase, rather than extirpation, which is what is meant, then we contribute to, if not create outright, a problem for public understanding of conservation, particularly as local extinction is often shortened to extinction in media sources. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Is extinction forever?
  16. 4516
    “…Methods: We provide a case report of a 6-month-old boy who presented with a functional, nonsensate upper limb after surgical release of midhumeral banding at 3 months of age. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Flail extremity resulting from constriction band syndrome: Neurovascular implications and surgical management
  17. 4517
    “…While such cross-correlations are nonsensical, no current methodology allows them to be reliably discarded, leaving researchers at greater risk when the spurious nature of cross-correlations is not clear from the unrelated origin of the time series and rather requires careful statistical estimation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Robust Statistical Detection of Power-Law Cross-Correlation
  18. 4518
    “…Knowledge of joint parameter distributions makes it possible to compute the uncertainty of model-based predictions whereas ignoring it (e.g., by treating parameters as a simple list of values and variances) yields nonsensical predictions. Computing the Bayes factor from joint distributions yields the odds ratio (∼20-fold) for competing ‘direct’ and ‘indirect’ apoptosis models having different numbers of parameters. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Properties of cell death models calibrated and compared using Bayesian approaches
  19. 4519
    por Hewes, Jane
    Publicado 2014
    “…These essential dimensions of young children’s spontaneous free play typically produce play which is experienced by adults as chaotic, nonsensical and disruptive. The article concludes with a preliminary discussion of the challenges and possibilities of providing for spontaneous free play indoors, in early childhood care and education programs.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Seeking Balance in Motion: The Role of Spontaneous Free Play in Promoting Social and Emotional Health in Early Childhood Care and Education
  20. 4520
    “…Raw sequence data could, in theory, be returned instead. This might appear nonsensical as, on its own, it is a meaningless code with no clinical value. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Potential research participants support the return of raw sequence data
Herramientas de búsqueda: RSS