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Mostrando 401 - 420 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.14s Limitar resultados
  1. 401
    por Langley, Paul C
    Publicado 2020
    “…To apply these manifest scores to time spent in a disease stage and then aggregate these over different disease stages is nonsensical. The critical issue is one of instrument development. …”
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    Nonsense on Stilts – Part 1: The ICER 2020-2023 Value Assessment Framework for Constructing Imaginary Worlds
  2. 402
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    The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)
  3. 403
    “…Premature termination codons (PTCs) prevent translation of a full-length protein and trigger nonsense-mediated mRNA decay (NMD). Nonsense suppression (also termed readthrough) therapy restores protein function by selectively suppressing translation termination at PTCs. …”
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    A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion
  4. 404
    por Banday, A Rouf, Stanifer, Megan L, Florez-Vargas, Oscar, Onabajo, Olusegun O, Zahoor, Muhammad A, Papenberg, Brenen W, Ring, Timothy J, Lee, Chia-Han, Andreakos, Evangelos, Arons, Evgeny, Barsh, Greg, Biesecker, Leslie G, Boyle, David L, Burnett-Hartman, Andrea, Carrington, Mary, Chang, Euijin, Choe, Pyoeng Gyun, Chrisholm, Rex L, Dalgard, Clifton, Edberg, Jeff, Erdmann, Nathan, Feigelson, Heather S, Firestein, Gary S, Gehring, Adam J, Ho, Michelle, Holland, Steven, Hutchinson, Amy A, Im, Hogune, Ison, Michael G, Kim, Hong Bin, Kreitman, Robert J, Korf, Bruce R, Mirabello, Lisa, Pacheco, Jennifer A, Peluso, Michael J, Rader, Daniel J, Redden, David T, Ritchie, Marylyn D, Rosenbloom, Brooke, Sant Anna, Hanaisa P, Savage, Sharon, Siouti, Eleni, Triantafyllia, Vasiliki, Vargas, Joselin M, Verma, Anurag, Vij, Vibha, Wesemann, Duane R, Yeager, Meredith, Yu, Xu, Zhang, Yu, Boulant, Steeve, Chanock, Stephen J, Feld, Jordan J, Prokunina-Olsson, Ludmila
    Publicado 2021
    “…We demonstrate that two exonic variants, rs10774671 and rs1131454, affect splicing and nonsense-mediated decay of OAS1. We suggest that genetically-regulated loss of OAS1 expression contributes to impaired spontaneous clearance of SARS-CoV-2 and elevated risk of hospitalization for COVID-19. …”
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    Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19
  5. 405
    por Fan, Da-Bei, Li, Li, Zhang, Hao-Hao
    Publicado 2021
    “…Herein, we identified a novel nonsense variant (c.265C>T) of NR0B1 in a 24-year-old Chinese male who was suffering from CAH. …”
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    Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia
  6. 406
    “…Transcripts containing premature termination codons (PTCs) can be subject to nonsense-associated alternative splicing (NAS). Two models have been evoked to explain this, scanning and splice motif disruption. …”
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    Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption
  7. 407
    “…Here we show that Gbp2 and Hrb1 also function in nonsense mediated decay (NMD) of spliced premature termination codon (PTC)-containing mRNAs. …”
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    Nuclear SR-protein mediated mRNA quality control is continued in cytoplasmic nonsense-mediated decay
  8. 408
    “…We have identified a novel nonsense mutation in the family diagnosed as osteopathia striata with cranial sclerosis. …”
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    Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report
  9. 409
    “…Finally, by inserting a clinically relevant nonsense-type null mutation in Atm, we demonstrate that Small Molecule Read-Through (SMRT) compounds can restore ATM production, indicating their potential as a future A-T therapeutic.…”
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    A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation
  10. 410
    por Udy, Dylan B, Bradley, Robert K
    Publicado 2021
    “…Nonsense-mediated mRNA decay (NMD) is an essential, highly conserved quality control pathway that detects and degrades mRNAs containing premature termination codons. …”
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    Nonsense-mediated mRNA decay uses complementary mechanisms to suppress mRNA and protein accumulation
  11. 411
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    Making Sense of “Nonsense” and More: Challenges and Opportunities in the Genetic Code Expansion, in the World of tRNA Modifications
  12. 412
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    Cytoplasmic switch of ARS2 isoforms promotes nonsense-mediated mRNA decay and arsenic sensitivity
  13. 413
    Publicado 2022
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    Erratum: Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling
  14. 414
    “…Whole exome sequencing identified a previously not described hemizygous nonsense variant (c.650G>A, p.W217X) within exon 6 of the moesin (MSN) gene localized on chromosome X, resulting in significantly decreased MSN mRNA expression compared to healthy controls. …”
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    Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50
  15. 415
    “…Immunohistochemical testing revealed the absence of dystrophin, confirming the diagnosis of dystrophin-deficient muscular dystrophy. mRNA sequencing revealed a nonsense variant in exon 11 of the feline DMD gene, NC_058386.1 (XM_045050794.1): c.1180C > T (p.…”
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    A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat
  16. 416
    por Zheng, Zhetao, Shi, Ningning, Xia, Qing
    Publicado 2022
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    Adeno-associated viral delivery of engineered tRNA-enzyme pairs into nonsense mutation mouse models
  17. 417
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    Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation
  18. 418
    “…However, termination in the 5′ UTR at the end of uORFs resembles premature termination that is normally sensed by the nonsense-mediated mRNA decay (NMD) pathway. Translation reinitiation has been proposed as a method for mRNAs to prevent NMD. …”
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    Translation reinitiation after uORFs does not fully protect mRNAs from nonsense-mediated decay
  19. 419
    “…We present the fifth case of DCM due to biallelic variants in the LMOD2 gene and the second case with the c.1193G>A (p.W398*) nonsense variant identified by whole-exome sequencing. …”
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    Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy
  20. 420
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    A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes
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