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Mostrando 621 - 640 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.46s Limitar resultados
  1. 621
    “…Further genetic testing revealed that the patient had a rare heterozygous nonsense mutation of the uroporphyrinogen decarboxylase (UROD) gene, for a sequence variant designated c.616C>T, which is predicted to result in premature protein termination (p.Gln206*). …”
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    Iatrogenic Iron Overload Causing Porphyria Cutanea Tarda in a Patient With a Rare Nonsense Heterozygous UROD Gene Mutation
  2. 622
    “…RESULTS: Whole‐exome sequencing showed two novel homozygous nonsense mutations (c.937C>T) in exon 3 and (c.3103C>T) in exon 19 of TRAPPC9 (NM_031466.7) in two unrelated consanguineous families. …”
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    Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran
  3. 623
    “…It is known that PTC triggers the nonsense-mediated decay (NMD) mechanism. It is also accepted that PTC in the last exon escapes NMD; however, the mechanisms involving NMD escaping in 5′-PTC, such as reinitiation of translation, are less known. …”
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    Premature Termination Codon in 5′ Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation
  4. 624
    “…Full-length assays of 49 COL4A5 nonsense variants identified eleven as susceptible to PTC readthrough using various readthrough drugs. …”
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    NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough
  5. 625
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    Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
  6. 626
    “…The paralogous human proteins UPF3A and UPF3B are involved in recognizing mRNAs targeted by nonsense‐mediated mRNA decay (NMD). UPF3B has been demonstrated to support NMD, presumably by bridging an exon junction complex (EJC) to the NMD factor UPF2. …”
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    Human UPF3A and UPF3B enable fault‐tolerant activation of nonsense‐mediated mRNA decay
  7. 627
    “…This study aimed to identify the pathogenicity of a nonsense mutation in SCNN1G in a Chinese family with LS and the long-term outcomes of tailored treatment with amiloride. …”
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    Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
  8. 628
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    Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report
  9. 629
    “…Integrative multi-omics analyses show that RBM17 repression leads to inclusion of poison exons and production of nonsense-mediated decay (NMD)-sensitive transcripts for pro-leukemic factors and the translation initiation factor, EIF4A2. …”
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    The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors
  10. 630
    por Banday, A. Rouf, Stanifer, Megan L., Florez-Vargas, Oscar, Onabajo, Olusegun O., Papenberg, Brenen W., Zahoor, Muhammad A., Mirabello, Lisa, Ring, Timothy J., Lee, Chia-Han, Albert, Paul S., Andreakos, Evangelos, Arons, Evgeny, Barsh, Greg, Biesecker, Leslie G., Boyle, David L., Brahier, Mark S., Burnett-Hartman, Andrea, Carrington, Mary, Chang, Euijin, Choe, Pyoeng Gyun, Chisholm, Rex L., Colli, Leandro M., Dalgard, Clifton L., Dude, Carolynn M., Edberg, Jeff, Erdmann, Nathan, Feigelson, Heather S., Fonseca, Benedito A., Firestein, Gary S., Gehring, Adam J., Guo, Cuncai, Ho, Michelle, Holland, Steven, Hutchinson, Amy A., Im, Hogune, Irby, Les’Shon, Ison, Michael G., Joseph, Naima T., Kim, Hong Bin, Kreitman, Robert J., Korf, Bruce R., Lipkin, Steven M., Mahgoub, Siham M., Mohammed, Iman, Paschoalini, Guilherme L., Pacheco, Jennifer A., Peluso, Michael J., Rader, Daniel J., Redden, David T., Ritchie, Marylyn D., Rosenblum, Brooke, Ross, M. Elizabeth, Anna, Hanaisa P. Sant, Savage, Sharon A., Sharma, Sudha, Siouti, Eleni, Smith, Alicia K., Triantafyllia, Vasiliki, Vargas, Joselin M., Vargas, Jose D., 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 2022
    “…Derived human-specific alleles rs10774671-A and rs1131454-A decrease OAS1 protein abundance through allele-specific regulation of splicing and nonsense-mediated decay (NMD). We conclude that decreased OAS1 expression due to a common haplotype contributes to COVID-19 severity. …”
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    Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries
  11. 631
    “…These studies demonstrate that Bmi-1/hTERT cell lines faithfully mirrored primary cell responses to CFTR modulators and illustrate a therapeutic approach to rescue CFTR nonsense mutations.…”
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    Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough
  12. 632
    “…Whole exome sequencing identified a novel pathogenic nonsense homozygous variant, Gly240*, in the gene GRM1 as a cause of SCAR13 that segregates with the recessive disease. …”
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    A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
  13. 633
    “…CASES: We report four individuals with a new phenotype of childhood‐onset choreo‐dystonia belonging to two unrelated Iranian pedigrees and harboring a novel homozygous nonsense pathogenic variant NM_002143.3:c.49C>T p.(Arg17*) in HPCA. …”
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    Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review
  14. 634
    “…Results: Sanger sequencing identified a homozygous nonsense variant c.131G >A (p.Trp44*) in the TGM1 gene that segregated in the autosomal recessive mode of inheritance in the family. …”
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    Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family
  15. 635
    “…In hemophilia A, F8 nonsense variants, and particularly those affecting the large factor VIII (FVIII) B domain that is dispensable for coagulant activity, display lower association with replacement therapy-related anti-FVIII inhibitory antibodies as retrieved from multiple international databases. …”
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    Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
  16. 636
    “…Functional profiling of 141 cancer cell lines revealed inhibition of kinase suppressor of morphogenesis in genitalia 1 (SMG1), a key regulator of the RNA degradation mechanism nonsense‐mediated mRNA decay (NMD), as an additional target of CC‐115. …”
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    SMG1, a nonsense‐mediated mRNA decay (NMD) regulator, as a candidate therapeutic target in multiple myeloma
  17. 637
    “…The TP53 and PTEN tumour suppressor genes are inactivated by nonsense mutations in a significant fraction of human tumours. …”
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    Novel compounds that synergize with aminoglycoside G418 or eRF3 degraders for translational readthrough of nonsense mutant TP53 and PTEN
  18. 638
    “…Approximately 40% of aniridia patients present with heterozygous nonsense variants in PAX6, resulting in haploinsufficiency. …”
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    Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs
  19. 639
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    Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene
  20. 640
    “…Cytogenetic and molecular genetic analysis revealed the presence of trisomy 21 and a known pathogenic nonsense variant in exon 6 of the PAX6 gene (c.282C>A, p.…”
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    Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient
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