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  1. 2561
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    Correction to: Somatic mutations in neurons during aging and neurodegeneration
  2. 2562
    “…CONCLUSION: These results expand the spectrum of MMP20 disease‐causing mutations and provide the first evidence for MMP20 function during dentin formation.…”
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    Dental malformations associated with biallelic MMP20 mutations
  3. 2563
    “…Peripheral blood was collected from the patients and their parents to sequence genes. Gene mutations were analysed. RESULTS: Genetic testing revealed that 9 infants had FEVR-related disease-causing gene mutations. …”
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    Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
  4. 2564
    “…BACKGROUND: High tumor mutational burden (TMB) predicts checkpoint blockade responsiveness, although the association with outcomes may be nuanced in certain tissue contexts. …”
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    Tumor mutational burden is not predictive of cytotoxic chemotherapy response
  5. 2565
    “…Moreover, we identified matrisome genes whose mutational burden is an independent predictor of survival. …”
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    Pan-Cancer Analysis of the Genomic Alterations and Mutations of the Matrisome
  6. 2566
    “…The vast majority of patients (81%) carried at least one mutation in either TP53, RB1, ATRX or PTEN. The most frequently mutated gene was TP53, with 61% of the patients harboring at least one mutation, followed by RB1 at 48%. …”
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    Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile
  7. 2567
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    Rare Mutations in Cancer Drug Resistance and Implications for Therapy
  8. 2568
    “…Genome sequencing of E. huxleyi mutation accumulation lines revealed 455 mutations, with an unusual GC-biased mutation spectrum. …”
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    Evolution of Mutation Rate in Astronomically Large Phytoplankton Populations
  9. 2569
    “…Among DDR defects, BRCA mutations show relevant clinical implications. BRCA mutations are associated with adverse clinical features in primary tumors and with poor outcomes in patients with mCRPC. …”
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    BRCA Mutations in Prostate Cancer: Prognostic and Predictive Implications
  10. 2570
    “…Transformation of low-grade glioma into a higher tumor grade is typically associated with contrast enhancement on magnetic resonance imaging. Mutations in the isocitrate dehydrogenase 1 (IDH1) gene occur in most LGGs (> 70%). …”
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    Ivosidenib in Isocitrate Dehydrogenase 1–Mutated Advanced Glioma
  11. 2571
    “…BACKGROUND: Biallelic mutations in ATP13A2 were identified as the cause of Kufor‐Rakeb disease, a pallido‐pyramidal syndrome characterized by young‐onset dystonia–parkinsonism with vertical supranuclear gaze palsy, spasticity, and cognitive decline. …”
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    Psychiatric Manifestations of ATP13A2 Mutations
  12. 2572
    “…This mutation rendered MuPyV resistant to a monoclonal Ab (mAb), whose specificity overlapped the endogenous anti-VP1 response. …”
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    Antibody escape by polyomavirus capsid mutation facilitates neurovirulence
  13. 2573
    “…We demonstrated that mutations in such ways were associated with a poor prognosis and reduced overall survival, often caused by a deletion in the TYMP gene and amplification in TYMS. …”
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    5-Fluorouracil Conversion Pathway Mutations in Gastric Cancer
  14. 2574
    “…Such mutations can be inherited or arise spontaneously during the life of the individual. …”
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    Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer
  15. 2575
    “…In this study, we explored the possibility that genetic defects in innate anti-viral immunity, as analogous to Toll-like receptor 3 (TLR3) mutations seen in HSV-1 encephalitis, may explain PUUV encephalitis. …”
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    Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
  16. 2576
    “…Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors often associated with mutations in SDHx genes. The immunohistochemistry of succinate dehydrogenase (SDH) subunits has been considered a useful instrument for the prediction of SDHx mutations in paragangliomas/pheochromocytomas. …”
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    Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas
  17. 2577
    por Lei, Hongwei, Tao, Kaixiong
    Publicado 2020
    “…Colorectal cancer (CRC) mostly arises from progressive accumulation of somatic mutations within cells. Most commonly mutated genes like TP53, APC and KRAS can promote survival and proliferation of cancer cells. …”
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    Somatic mutations in colorectal cancer are associated with the epigenetic modifications
  18. 2578
    “…Homo- or hemizygous CTNNB1 mutations were detected in 74% of CTNNB1 mutated CRCs (13 microsatellite instabile (MSI-H), 7 microsatellite stabile (MSS)) but only in 3% (1/33) of extracolonic CTNNB1 mutated cancers. …”
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    The majority of β-catenin mutations in colorectal cancer is homozygous
  19. 2579
    “…BACKGROUND: It has long been known that mutations are at the core of many diseases, most notably cancer. …”
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    Mutations in normal tissues—some diagnostic and clinical implications
  20. 2580
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    Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators
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