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  1. 2761
    “…Apart from the EOC, mutations in the DDR genes, such as BRCA1 and BRCA2, are common in prostate cancer as well. …”
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    BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside
  2. 2762
    por Lazarova, Darina, Bordonaro, Michael
    Publicado 2022
    “…Tumorigenesis typically requires the accumulation of several driver gene mutations; therefore, there is a mutation threshold for the completion of the neoplastic process. …”
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    Hypothesis: Mutations and Immunosurveillance in Obesity-Associated Colorectal Cancer
  3. 2763
    por Le Page, Michael
    Publicado 2022
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    Mutation-inducing drugs could raise virus dangers
  4. 2764
    “…Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. …”
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    Gain-of-function STAT1 mutation and visceral leishmaniasis
  5. 2765
    “…Hence in this paper, deep learning assisted gene mutation analysis (DL-GMA) was utilized for classifying poststroke epilepsy in patients. …”
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    Clinical Characteristics and Gene Mutation Analysis of Poststroke Epilepsy
  6. 2766
    “…This study proposes a projection approach to reduce therapeutic complexity from genomic mutations to transcriptomic alterations. Through this method, we identify genes and pathways critical for mutational signature-specific HCC and further discover a series of prognostic markers indicating patient survival outcome.…”
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    Mutational signatures representative transcriptomic perturbations in hepatocellular carcinoma
  7. 2767
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    The Identification and Clinical Applications of Mutated Antigens in the Era of Immunotherapy
  8. 2768
    “…The role of EGFR in lung cancer is well described with numerous activating mutations that result in phosphorylation and tyrosine kinase inhibitors that target EGFR. …”
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    Elevated phosphorylation of EGFR in NSCLC due to mutations in PTPRH
  9. 2769
    “…PURPOSE: To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease. …”
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    Mutation spectrum in a cohort with familial exudative vitreoretinopathy
  10. 2770
    por Bentur, Lea, Pollak, Mordechai
    Publicado 2022
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    Trikafta—Extending Its Success to Less Common Mutations
  11. 2771
    por Ren, Peijun, Dong, Xiao, Vijg, Jan
    Publicado 2022
    “…Insight into such mutations and their consequences has been limited due to their extremely low abundance, with most mutations unique for each cell. …”
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    Age-related somatic mutation burden in human tissues
  12. 2772
    “…In fact, more than 1000 distinct EGFR mutations are listed in the Catalogue of Somatic Mutations in Cancer (COSMIC), but for most of them, the functional consequence is unknown. …”
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    Identification of Activating Mutations in the Transmembrane and Extracellular Domains of EGFR
  13. 2773
    “…Mutation timing could lead to mutation burden of less than heterozygosity to approaching homozygosity. …”
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    De novo mutations, genetic mosaicism and human disease
  14. 2774
    “…SIMPLE SUMMARY: In recent years, spliceosome mutations have become of diagnostic and prognostic interest in several malignancies, as alternative splice mRNA isoforms are often associated with neoplasia. …”
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    SF3B1 Mutations in Hematological Malignancies
  15. 2775
    “…First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). …”
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    Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
  16. 2776
    “…Background: Since the identification of JAK2 V617F and exon 12 mutations as driver mutations in polycythemia vera (PV) in 2005, molecular testing of these mutations for patients with erythrocytosis has become a routine clinical practice. …”
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    Mutational Landscape of Patients Referred for Elevated Hemoglobin Level
  17. 2777
    “…Mutation can occur in nature at a very low frequency or can be induced artificially. …”
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    Spontaneous, Artificial, and Genome Editing-Mediated Mutations in Prunus
  18. 2778
    por Ding, Yu, Gao, Beibei, Huang, Jinyu
    Publicado 2022
    “…Cardiomyopathy, a common clinical disorder, is frequently associated with pathogenic mutations in nuclear and mitochondrial genes. To date, a growing number of nuclear gene mutations have been linked with cardiomyopathy; however, knowledge about mitochondrial tRNAs (mt-tRNAs) mutations in this disease remain inadequately understood. …”
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    Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations
  19. 2779
    “…The analysis of the DMD gene mutation spectrum is essential for patients with DMD/BMD because the exact mutation type determines the application of a specific therapeutic method.…”
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    Specificities of the DMD Gene Mutation Spectrum in Russian Patients
  20. 2780
    “…Yet, it is unclear whether the mutations are associated with any presenting clinical features. …”
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    Characteristics of BRCA2 Mutated Prostate Cancer at Presentation
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