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(mutation)
909,532 results
  • Population Genetics of SARS-CoV-2: Disentangling Effects of Sampling Bias and Infection Clusters. [Journal Article]
    Genomics Proteomics Bioinformatics. 2020 Jul 11 [Online ahead of print]Liu Q, Zhao S, … Chen H
  • A novel RNA virus, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is responsible for the ongoing outbreak of coronavirus disease 2019 (COVID-19). Population genetic analysis could be useful for investigating the origin and evolutionary dynamics of COVID-19. However, due to extensive sampling bias and existence of infection clusters during the epidemic spread, direct application…
  • Enhancer-gene rewiring in the pathogenesis of Quebec Platelet Disorder. [Journal Article]
    Blood. 2020 Jul 14 [Online ahead of print]Liang M, Soomro AU, … Wilson MD
  • Quebec Platelet Disorder (QPD) is an autosomal dominant bleeding disorder with a unique, platelet-dependent gain-of-function defect in fibrinolysis, without systemic fibrinolysis. The hallmark feature of QPD is a >100-fold overexpression of PLAU specifically in megakaryocytes. This overexpression leads to >100-fold increased platelet stores of urokinase plasminogen activator (PLAU/uPA), subsequen…
  • The Sins of Our Forefathers: Paternal Impacts on De Novo Mutation Rate and Development. [Journal Article]
    Annu Rev Genet. 2020 Jul 14 [Online ahead of print]Aitken RJ, De Iuliis GN, Nixon B
  • Spermatogonial stem cells (SSCs) are generally characterized by excellent DNA surveillance and repair, resulting in one of the lowest spontaneous mutation rates in the body. However, the barriers to mutagenesis can be overwhelmed under two sets of circumstances. First, replication errors may generate age-dependent mutations that provide the mutant cells with a selective advantage, leading to the …
  • A Binuclear CuA Center Designed in an All α-Helical Protein Scaffold. [Journal Article]
    J Am Chem Soc. 2020 Jul 14 [Online ahead of print]Mirts EN, Dikanov SA, … Lu Y
  • The primary and secondary coordination spheres of metal binding sites in metalloproteins have been investigated extensively, leading to the creation of high-performing functional metalloproteins; however, the impact of the overall structure of the protein scaffold on the unique properties of metalloproteins has rarely been studied. A primary example is the binuclear CuA center, an electron transf…
  • Dynamics of Hepatitis B virus capsid protein dimer regulate assembly through an allosteric network. [Journal Article]
    ACS Chem Biol. 2020 Jul 14 [Online ahead of print]Patterson A, Zhao Z, … Bothner B
  • While there is an effective vaccine for Human Hepatitis B Virus (HBV), 257 million people have chronic infections for which there is no cure. The assembly process for the viral capsid is a potential therapeutic target. In order to understand the capsid assembly process, we investigated the dimeric building blocks of the capsid. To understand what blocks assembly, we took advantage of an assembly …
  • Frequent activating PIK3CA mutations in sporadic angiolipoma. [Journal Article]
    J Cutan Pathol. 2020 Jul 14 [Online ahead of print]Saggini A, Santonja C, … Kutzner H
  • CONCLUSIONS: The high frequency of the p.E545A PIK3CA mutation in both conventional and cellular ALs suggests that activation of the PI3K/AKT pathway plays a key role in AL pathogenesis, and reinforces the concept that cellular AL should be regarded as a variant of AL. This article is protected by copyright. All rights reserved.
  • Real-world osimertinib for EGFR mutation-positive non-small-cell lung cancer with acquired T790M mutation. [Journal Article]
    Future Oncol. 2020 Jul 14 [Online ahead of print]Imamura F, Kimura M, … Kumagai T
  • Aim: Osimertinib is a key drug for EGFR mutation-positive non-small-cell lung cancer (NSCLC). As the hazards ratio of overall survival in comparison with first-generation EGFR-tyrosine kinase inhibitors was almost similar between FLAURA and ARCHER 1050, salvage use of osimertinib is still a treatment option. Patients & methods: We retrospectively analyzed the clinical courses of EGFR mutation-po…
  • Characterization of tumors with ultralow tumor mutational burden in Japanese cancer patients. [Journal Article]
    Cancer Sci. 2020 Jul 14 [Online ahead of print]Hatakeyama K, Nagashima T, … Yamaguchi K
  • Tumor mutational burden analysis using whole exome sequencing highlights features of a tumor with a number of mutations or known driver alterations. However, cancers with few changes in the exon regions have unclear characteristics, even though low-mutated tumors are often detected in pan-cancer analysis. In the present study, we analyzed tumors with low tumor mutational burden in the Japanese ve…
  • Generalized bullae in a young girl with KRT6A-related pachyonychia congenita. [Journal Article]
    Pediatr Dermatol. 2020 Jul 14 [Online ahead of print]Liu J, Zhong W, … Hu X
  • Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). Clinically, PC is characterized by hypertrophic onychodystrophy, painful palmoplantar keratoderma, oral leukokeratosis, and follicular hyperkeratosis. We describe an atypical case of PC in a young Chinese girl presenting with generalized bullae and i…
  • NF2 mutation status and tumor mutational burden correlate with immune cell infiltration in meningiomas. [Journal Article]
    Cancer Immunol Immunother. 2020 Jul 13 [Online ahead of print]Rutland JW, Gill CM, … Fowkes M
  • CONCLUSIONS: Our findings suggest that distribution of immune cell infiltration in meningiomas is associated with tumor mutational burden. NF2 mutational status was associated with an increasing density of scattered lymphocytes. As the role of immunotherapy in meningiomas continues to be elucidated with clinical trials that are currently underway, these results may serve as a novel biomarker of tumor mutational burden in meningiomas.
  • [Why do we need genetics in cardiac rhythmology?] [Review]
    Herzschrittmacherther Elektrophysiol. 2020 Jul 13 [Online ahead of print]Rieder M, Castiglione A, … Odening KE
  • A variety of arrhythmogenic cardiac diseases such as channelopathies and cardiomyopathies are caused by genetic alterations. In patients with these diseases, malignant arrhythmias or sudden cardiac death frequently manifest already during young adulthood. Early recognition, risk stratification and adequate therapy is therefore essential to avoid sudden cardiac death. This review summarizes the im…
  • Evolutionary dynamics of the chloroplast genome sequences of six Colobanthus species. [Journal Article]
    Sci Rep. 2020 Jul 13; 10(1):11522.Androsiuk P, Jastrzębski JP, … Giełwanowska I
  • The complete plastome sequences of six species were sequenced to better understand the evolutionary relationships and mutation patterns in the chloroplast genome of the genus Colobanthus. The length of the chloroplast genome sequences of C. acicularis, C. affinis, C. lycopodioides, C. nivicola, C. pulvinatus and C. subulatus ranged from 151,050 to 151,462 bp. The quadripartite circular structure …
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