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  1. 2661
    “…Mutations in TSC1 or TSC2 genes are linked to alterations in neuronal function which ultimately lead to the development of a complex neurological phenotype. …”
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    Effects of Mutations in TSC Genes on Neurodevelopment and Synaptic Transmission
  2. 2662
    “…Early-onset cancer seems to be also associated with BRCA1/2 mutations and a few studies suggest a positive prognostic role of these mutations. …”
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    BRCA mutations and gastrointestinal cancers: When to expect the unexpected?
  3. 2663
    “…Mutations within the kinase domain of the epidermal growth factor receptor (EGFR) are common oncogenic driver events in non-small cell lung cancer. …”
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    Structural basis of the effect of activating mutations on the EGF receptor
  4. 2664
    “…Theory predicts that the ability of selection and recombination to purge mutation load is enhanced if selection against deleterious genetic variants operates more strongly in males than females. …”
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    Selection in males purges the mutation load on female fitness
  5. 2665
    “…PURPOSE: Though mutations of the calreticulin (CALR) gene have been identified in essential thrombocythemia patients, the detailed mechanisms for CALR mutations have not been completely clarified. …”
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    Alterations of Signaling Pathways in Essential Thrombocythemia with Calreticulin Mutation
  6. 2666
    “…Recent studies have demonstrated a strong association between TERT promoter mutation and tumorigenesis of UC. Also, TERT promoter mutation has great potential for diagnosis, as well as prognosis in UC treatment, and this is also applicable for the liquid biopsy techniques. …”
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    Clinical Application of TERT Promoter Mutations in Urothelial Carcinoma
  7. 2667
    “…Here, we review the current knowledge on the functional impact of specific mutations, possible Pol III-related disease-causing mechanisms, and animal models that may help to better understand the links between Pol III mutations and disease.…”
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    RNA Polymerase III Subunit Mutations in Genetic Diseases
  8. 2668
    “…PCR and gene sequencing showed mutations at codon 531 and 513 in the rpoB gene. 12% of cases showed a double mutation in the rpoB gene. katG gene showed mutations at codon 315 and 299. 28.6% of the control group cases were positive for MDR whereas 100% of the treated group were positive for MDR. …”
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    Early detection of MDR Mycobacterium tuberculosis mutations in Pakistan
  9. 2669
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    Multiform antimicrobial resistance from a metabolic mutation
  10. 2670
    “…Three patients with baseline mutations also had late-emerging mutations in TP53, IDH1 and TET2. …”
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    Dynamics of mutations in patients with essential thrombocythemia treated with imetelstat
  11. 2671
    “…BACKGROUND: Colorectal cancer is the 2nd leading cause of cancer-related deaths with few patients benefiting from biomarker-guided therapy. Mutation expression is essential for accurate interpretation of mutations as biomarkers, but surprisingly, little has been done to analyze somatic cancer mutations on the expression level. …”
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    The expressed mutational landscape of microsatellite stable colorectal cancers
  12. 2672
    “…First, patients included in clinical trials must be better selected, based on the identified driver mutation (such as PDGFRα D842V mutation), the presence of tertiary lymphoid structures (TLS) or PD-L1 expression. …”
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    Beyond the Driver Mutation: Immunotherapies in Gastrointestinal Stromal Tumors
  13. 2673
    “…Pathologic analyses revealed a TTR mutation c.113A>G (p.D38G). REVIEW SUMMARY: Fifteen mutations and genotype-phenotype correlation of 72 LA patients have been summarized to provide an overview of LA associated with transthyretin mutations. …”
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    Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations
  14. 2674
    “…RESULTS: Two chromosomal deletions and six haploinsufficient mutations were identified in individuals with eye abnormalities; an affected relative of one patient harboured the same mutation without an ocular phenotype. …”
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    The phenotypic spectrum associated with OTX2 mutations in humans
  15. 2675
    “…Identifying resistance mutations in a drug target provides crucial information. …”
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    Lentiviral-Driven Discovery of Cancer Drug Resistance Mutations
  16. 2676
    “…The presenilin genes (PSEN1 and PSEN2) are mainly responsible for causing early-onset familial Alzheimer’s disease, harboring ~300 causative mutations, and representing ~90% of all mutations associated with a very aggressive disease form. …”
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    Presenilin mutations and their impact on neuronal differentiation in Alzheimer’s disease
  17. 2677
    “…Background: The role of telomerase reverse transcriptase (TERT) gene promoter mutations (pTERT) in atypical and anaplastic meningiomas remains controversial. …”
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    Human TERT Promoter Mutations in Atypical and Anaplastic Meningiomas
  18. 2678
    “…CONCLUSIONS: Regional and global impaired myocardial perfusion can occur in HCM mutation carriers, in the absence of significant hypertrophy or scarring.…”
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    Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers
  19. 2679
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    Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice
  20. 2680
    “…The TET2 gene shows mutations in variable myeloid malignancies with the involvement of 15% of myeloproliferative neoplasms (MPNs). …”
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    JAK2 and TET2 Mutation in Polycythemia Vera
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