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  1. 1561
    “…One of the most elaborated ageing theories implies a direct connection between ROS-mediated mtDNA damage and mutations. In this review, we focus on the role of mitochondrial metabolism, mitochondria generated ROS, mitochondrial dynamics and mitophagy in normal ageing and pathological conditions, such as inflammation. …”
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    Role of the mtDNA Mutations and Mitophagy in Inflammaging
  2. 1562
    “…While it is known that mutations at protein interfaces have a high potential to be damaging and cause human genetic disease, there has been relatively little consideration for how this varies between different types of interfaces. …”
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    The properties of human disease mutations at protein interfaces
  3. 1563
    “…Recent work establishes that the changes involved in adaptation reflect common types of mutations, raising the question of how strongly the mutation spectrum shapes the spectrum of adaptive substitutions. …”
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    Mutation bias shapes the spectrum of adaptive substitutions
  4. 1564
    “…Cancer drug resistance presents a challenge for precision medicine. Drug-resistant mutations are always emerging. In this study, we explored the relationship between drug-resistant mutations and drug resistance from the perspective of protein structure. …”
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    Predicting Anticancer Drug Resistance Mediated by Mutations
  5. 1565
    “…In fact, many additional loci shape the mutation’s expressivity, collectively leading to a wide spectrum of mutational responses. …”
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    Genetic basis of a spontaneous mutation’s expressivity
  6. 1566
    “…Sanger sequencing verification was consistent with the results of whole-exome sequencing. The KCNC1 mutation was a de novo mutation, and the CAPN3 and NEFH mutations were inherited from their father and mother, respectively. …”
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    Epilepsy Combined With Multiple Gene Heterozygous Mutation
  7. 1567
    “…It is categorized into two types, types I and II, which are caused by argininosuccinate synthase 1 (ASS1), and citrin (SLC25A13) gene mutations, respectively. In this study, we performed genetic analysis on nine Chinese infants with citrullinemia using next-generation sequencing, which identified a novel mutation (p.Leu313Met) and a rare mutation (p.Thr323Ile, rs1250895424) of ASS1. …”
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    Identification of Novel Mutations in Chinese Infants With Citrullinemia
  8. 1568
    “…PURPOSE OF REVIEW: Individuals carrying germline mutations in BRCA1/2 have unique psychosocial and educational needs that must be met to ensure informed clinical decision-making. …”
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    Helping Patients Understand and Cope with BRCA Mutations
  9. 1569
    Publicado 2022
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    Immunosuppressants: Mutation in COVID virus: case report
  10. 1570
    “…Dropped head syndrome was seen in two patients with ETFDH mutations. Bulbar symptoms and Beevor's sign were noted in a patient with FLAD1 variant. …”
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    Mutation Spectrum of Primary Lipid Storage Myopathies
  11. 1571
    “…Based on NanoString multiplex expression profiling performed in a subset of cases, CTNNB1-mutated osteomas segregated in a defined “WNT-cluster”, substantiating functionality of CTNNB1 mutations which are associated with β-catenin stabilization. …”
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    Recurrent CTNNB1 mutations in craniofacial osteomas
  12. 1572
    “…We herein report a 36-year-old man with repeated necrotizing lymphadenitis due to MEFV gene mutations. The patient's chief complaints were a fever and painful cervical lymphadenopathy. …”
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    Repeated Necrotizing Lymphadenitis with MEFV Gene Mutations
  13. 1573
    “…To date, there is insufficient evidence to warrant increased surveillance in patients with BRCA mutations or with a positive family history for BRCA mutations, in the absence of standard cutaneous risk factors. …”
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    Dermatological and Dermoscopic Baselines in BRCA Mutation Carriers
  14. 1574
    “…Somatic mutation profiling included variant calling and utilizing MutSig and SigProfiler packages. …”
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    Somatic Mutation Profiling in Head and Neck Paragangliomas
  15. 1575
    por Song, Hao, Huang, Yao, Jiang, Xiaoqing
    Publicado 2022
    “…BACKGROUND: The mutations associated with metastasis in advanced-stage cholangiocarcinoma (CCA) have not been investigated. …”
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    Mutation spectrum associated with metastasis of advanced cholangiocarcinoma
  16. 1576
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    Molecular Effects of Mutations in Human Genetic Diseases
  17. 1577
    “…The association of POLE/POLD1 mutation, ultra-high mutation load, and good prognosis have recently become the focus of clinical research. …”
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    POLE/POLD1 mutation and tumor immunotherapy
  18. 1578
    “…To increase detection power, we focus on genes and pathways that are significantly mutated following correction for epigenetic, replication timing, and sequence-based covariates. …”
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    Recurrent somatic mutations as predictors of immunotherapy response
  19. 1579
    por Khan, Irum, Gartel, Andrei L.
    Publicado 2022
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    The antagonistic duality of NPM1 mutations in AML
  20. 1580
    “…The current study reports two founder mutations in the BRCA1 gene in the Nepalese people. …”
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    Founder BRCA1 mutations in Nepalese population
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