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  1. 1821
    “…A gene panel test (FoundationOneCDx assay) showed a high tumor mutational burden and mutations in TP53, KEL, RB1, RNF43, PTEN, GNAS, and PIK3CA. …”
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    Tubulovillous adenoma with high-grade dysplasia of the vulva harboring high tumor mutational burden and cancer-associated mutations: a case report
  2. 1822
    “…RESULTS: Herein, we identified a novel WAS mutation (c.158 T > C) using next-generation sequencing in a Chinese pedigree with WAS. …”
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    Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott–Aldrich syndrome
  3. 1823
    “…We previously identified several bladder cancer-associated mutations in EP300 using high-throughput sequencing; however, the functional consequences of these mutations remain unclear. …”
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    Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation
  4. 1824
    “…In 25% of patients with mitochondrial myopathies, pathogenic mitochondrial DNA (mtDNA) mutation are the cause. For heteroplasmic mtDNA mutations, symptoms manifest when the mutation load exceeds a tissue-specific threshold. …”
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    Fusion of Wild-Type Mesoangioblasts with Myotubes of mtDNA Mutation Carriers Leads to a Proportional Reduction in mtDNA Mutation Load
  5. 1825
    por Drucker, Peter F
    Publicado 1970
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    La grande mutation vers une nouvelle société
  6. 1826
    por Aubin, Jean-Pierre
    Publicado 1999
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    Mutational and morphological analysis: tools for shape evolution and morphogenesis
  7. 1827
    “…SIMPLE SUMMARY: We developed an efficient method for analyzing sparse mutation data based on mutation co-occurrence to infer the underlying numbers of mutational signatures and sample clusters that gave rise to the data. …”
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    A Biterm Topic Model for Sparse Mutation Data
  8. 1828
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    Panfolliculoma in SUFU-mutated basal cell nevus syndrome
  9. 1829
    “…A total of 50% of the TTD cases are caused by TFIIH mutations. Using TFIIH mutant patient cells from TTD and XP subjects we can show that the stress-sensitivity of the proteome is reduced in TTD, but not in XP. …”
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    TFIIH mutations can impact on translational fidelity of the ribosome
  10. 1830
    “…Autosomal recessive mutations in the Parkin gene cause Parkinson’s disease. …”
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    Structure-based design and characterization of Parkin-activating mutations
  11. 1831
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    Structurally divergent and recurrently mutated regions of primate genomes
  12. 1832
    por Nogueira, B.P., Lavor, I.R., Muniz, C.R.
    Publicado 2023
    “…Then, we discuss the possibility of occurring damage or mutation in its genome due to the presence of quantum vacuum fluctuations inside and around the RNA ribbon. …”
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    Ribonucleic acid genome mutations induced by the Casimir effect
  13. 1833
    “…However, the genome-wide mutation landscape and mutational signatures of mitochondrial dysfunction are unknown. …”
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    Spontaneous Mutation Rates and Spectra of Respiratory-Deficient Yeast
  14. 1834
    por Steen, Tomoko Y.
    Publicado 2023
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    William Jackson Schull and mutation studies on human cohorts
  15. 1835
    por Jiang, Limin, Yu, Hui, Guo, Yan
    Publicado 2023
    “…BACKGROUND: Mutational signatures computed from somatic mutations, allow an in-depth understanding of tumorigenesis and may illuminate early prevention strategies. …”
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    Modeling the relationship between gene expression and mutational signature
  16. 1836
    “…CONCLUSION: In conclusion, a total of 96 mutated genes in LMC were investigated via meta-analysis. …”
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    Meta-analysis of commonly mutated genes in leptomeningeal carcinomatosis
  17. 1837
    “…SARS-CoV-2 evolves rapidly in part because of its high mutation rate. Here, we examine whether this mutational process itself has changed during viral evolution. …”
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    Evolution of the SARS-CoV-2 Mutational Spectrum
  18. 1838
    “…Results: Mutational analysis revealed the presence of the heterozygous Y831C mutation in two patients, one with frontotemporal dementia and one with Lewy body dementia. …”
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    The Y831C Mutation of the POLG Gene in Dementia
  19. 1839
    “…OBJECTIVE: To explore the clinical characteristics of autoimmune diseases in children with ELANE mutations. METHODS: Three cases of children with ELANE mutations manifesting as autoimmune diseases, who were under treatment from April 2020 to May 2021, were retrospectively analysed. …”
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    Paediatric autoimmune diseases with ELANE mutations associated with neutropenia
  20. 1840
    “…A male infant presented to us with clinical features of rickets, floppiness, and a deranged coagulation profile. A novel mutation causing Tyrosinemia was discovered on the basis of genetic sequencing.…”
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    Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets
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