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  1. 1621
    “…The germline mutation rate determines the pace of genome evolution and is an evolving parameter itself(1). …”
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    Evolution of the germline mutation rate across vertebrates
  2. 1622
    “…The OECD Test Guideline 488 (TG 488) for the Transgenic Rodent Gene Mutation Assay has undergone several revisions to update the recommended design for studying mutations in somatic tissues and male germ cells. …”
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    Impact of sampling time on the detection of mutations in rapidly proliferating tissues using transgenic rodent gene mutation models: A review
  3. 1623
    “…Genetic studies have shown that HS is predisposed by mutations in the γ-secretase gene, but only a proportion of familial and partial sporadic cases have been shown to possess such mutations. …”
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    An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata
  4. 1624
    “…BACKGROUND: Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (p.G87R) has been detected in Chinese patients. …”
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    Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda
  5. 1625
    “…The fitness effects of new mutations determine key properties of evolutionary processes. …”
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    Spontaneous single-nucleotide substitutions and microsatellite mutations have distinct distributions of fitness effects: Distributions of fitness effects of spontaneous mutations
  6. 1626
    “…The 3243A > G in mtDNA is a representative mutation in mitochondrial diseases. Mitochondrial protein synthesis is impaired due to decoding disorder caused by severe reduction of 5-taurinomethyluridine (τm(5)U) modification of the mutant mt-tRNA(Leu(UUR)) bearing 3243A > G mutation. …”
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    Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation
  7. 1627
    “…Deep mutational scanning (DMS) is a high-throughput experimental technique that measures the effects of thousands of mutations to a protein. …”
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    Jointly modeling deep mutational scans identifies shifted mutational effects among SARS-CoV-2 spike homologs
  8. 1628
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    Framework of clonal mutations concurrent with WT1 mutations in adults with acute myeloid leukemia: Alliance for Clinical Trials in Oncology study
  9. 1629
    “…ADH1 has been linked to 113 unique germline mutations, of which nearly 96% are missense mutations. …”
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    Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations
  10. 1630
    “…The assays were validated and then applied to genotype G6PD mutations in 248 Thai females. The sensitivity of the HRM assays developed was 100% [95% confidence interval (CI): 94.40%–100%] with a specificity of 100% (95% CI: 88.78%–100%) for detecting these six mutations. …”
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    Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females
  11. 1631
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    Acquired Gefitinib-Resistant Mutation of EGFR in a Chemonaive Lung Adenocarcinoma Harboring Gefitinib-Sensitive Mutation L858R
  12. 1632
    “…The NF2 locus was also comprehensively studied for point mutations within coding and conserved non-coding sequences. …”
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    Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus
  13. 1633
    Publicado 1992
    “…We have investigated the impact of mutations on the binding functions of the phosphocholine (PC)-specific T15 antibody in the absence of antigen selection pressure. …”
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    Generation and analysis of random point mutations in an antibody CDR2 sequence: many mutated antibodies lose their ability to bind antigen
  14. 1634
    “…DESCRIPTION: The FH mutation database is a part of the TCA cycle gene mutation database (formerly the succinate dehydrogenase gene mutation database) and is based on the Leiden Open (source) Variation Database (LOVD) system. …”
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    The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
  15. 1635
    “…However, how mutations in the spr-2 gene suppress sel-12 is unknown. …”
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    Mutations in genes involved in nonsense mediated decay ameliorate the phenotype of sel-12 mutants with amber stop mutations in Caenorhabditis elegans
  16. 1636
    “…METHODOLOGY/PRINCIPAL FINDINGS: Global miRNA expression profiling was performed on a series of 33 high grade serous carcinomas, characterized with respect to BRCA1/2 status (mutation, epigenetic silencing with loss of expression or normal), and with clinical follow-up, together with 2 low grade serous carcinomas, 2 serous borderline tumors, and 3 normal fallopian tube samples, using miRNA microarrays (328 human miRNA). …”
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    MicroRNA Profiling of BRCA1/2 Mutation-Carrying and Non-Mutation-Carrying High-Grade Serous Carcinomas of Ovary
  17. 1637
    “…METHODS AND RESULTS: MC2R gene analysis revealed an unusual combination of two homozygous missense mutations, consisting of the novel mutation Y129C and the previously described F278C activating mutation. …”
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    Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations
  18. 1638
    “…In adefovir (ADV) treated chronic hepatitis B patients carrying rtA181T/rtA181V mutations, overlap with surface gene mutations such as sW172stop/sL173F has been reported. …”
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    Hepatitis B Viral Surface Mutations in Patients with Adefovir Resistant Chronic Hepatitis B with A181T/V Polymerase Mutations
  19. 1639
    “…Recently mutations in the MYH gene have been associated with a milder form of adenomatous polyposis which is characterized by a variable level of colonic polyps ranging from a few to several hundred. …”
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    Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients
  20. 1640
    “…In most but not all families with FJHN, genetic studies have revealed mutations in the uromodulin (UMOD) gene located on chromosome 16p11-p13. …”
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    A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
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