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  1. 196521
    “…BACKGROUND: Mutations in the mitochondrial genome have been implicated in mitochondrial disease, often characterized by impaired cellular energy metabolism. …”
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    Expression of mitochondrial protein genes encoded by nuclear and mitochondrial genomes correlate with energy metabolism in dairy cattle
  2. 196522
    “…METHODS: In this study, human monocyte-derived macrophages were genetically engineered to secrete a bispecific T cell engager (BiTE) specific to the mutated epidermal growth factor variant III (EGFRvIII) expressed by some GBM tumors. …”
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    Human macrophages engineered to secrete a bispecific T cell engager support antigen-dependent T cell responses to glioblastoma
  3. 196523
    “…Four patients with bMSS were identified to have high blood tumor mutational burden (bTMB-H) and trended towards a better survival than the bMSS-bTMB-low (bTMB-L) subset (HR 0.026, 95% CI 0 to 2.635, p=0.011). …”
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    Plasma-based microsatellite instability detection strategy to guide immune checkpoint blockade treatment
  4. 196524
    “…BACKGROUND: Alterations in the structure of haemoglobin (Hb) are usually brought about by point mutations affecting one or, in some cases, two codons encoding amino acids of the globin chains. …”
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    Prevalence of sickle cell disorders and malaria infection in children aged 1–12 years in the Volta Region, Ghana: a community-based study
  5. 196525
    “…Biochemical assays were conducted to detect metabolic resistance mechanisms, and real-time PCR was performed to determine the frequencies of the knockdown resistance (kdr) mutations Gly1016, Cys1534, and Leu410. RESULTS: High levels of resistance to permethrin were detected in all Ae. aegypti populations, with mortality ranging from 0 to 14.8% at the diagnostic dose. …”
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    Insecticide resistance status of Aedes aegypti in Bangladesh
  6. 196526
    “…RESULTS: In the present analysis, pairs of multiple sequence alignments are constructed for each dimer and the covariation between residues in those pairs are calculated by CCMpred (Contacts from Correlated Mutations predicted) and three mutual information based approaches for ten accessible surface area threshold groups. …”
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    Inter-protein residue covariation information unravels physically interacting protein dimers
  7. 196527
    “…CONCLUSION: We have thus shown that a compact immune human phage display library is sufficient for the isolation of potent inhibitory monoclonal antibodies and that minor sequence mutations dramatically increase expression levels in Nicotiana benthamiana. …”
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    Isolation and light chain shuffling of a Plasmodium falciparum AMA1-specific human monoclonal antibody with growth inhibitory activity
  8. 196528
    “…CONCLUSIONS: The repeat-induced and indel-induced mutations were two important dynamics contributed to the diversification of the chloroplast genome in Camellia sinensis, which were not mutually exclusive. …”
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    Comparative chloroplast genomes: insights into the evolution of the chloroplast genome of Camellia sinensis and the phylogeny of Camellia
  9. 196529
    “…BACKGROUND: PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. …”
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    Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
  10. 196530
    “…BACKGROUND: Hepatitis C (HCV) and many other RNA viruses exist as rapidly mutating quasi-species populations in a single infected host. …”
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    Adaptation of Oxford Nanopore technology for hepatitis C whole genome sequencing and identification of within-host viral variants
  11. 196531
    “…Our study reveals that lineage B.1.1.33 evolved from an ancestral clade, here designated B.1.1.33-like, that carries one of the two B.1.1.33 synapomorphic mutations. The B.1.1.33-like lineage may have been introduced from Europe or arose in Brazil in early February 2020 and a few weeks later gave origin to the lineage B.1.1.33. …”
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    Evolutionary Dynamics and Dissemination Pattern of the SARS-CoV-2 Lineage B.1.1.33 During the Early Pandemic Phase in Brazil
  12. 196532
    “…These small RNA molecules are broadly conserved in sequence and genomic context in metazoans. Mutations may occur in miRNAs and/or genes that contribute to the establishment of distinct repertoires of miRNA-target interactions, thereby favoring the differential control of gene expression and, consequently, the origin of novel phenotypes. …”
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    A comparative analysis of heart microRNAs in vertebrates brings novel insights into the evolution of genetic regulatory networks
  13. 196533
    “…METHODS: To expand the mutational spectrum of ATAD3A variants and to provide functional interpretation of missense alleles in trans to deletion alleles, we performed exome sequencing for identification of single nucleotide variants (SNVs) and copy number variants (CNVs) in ATAD3A in individuals with neurological and mitochondrial phenotypes. …”
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    Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
  14. 196534
    “…In parallel with targeted therapies, immunotherapies are also evolving, revolutionizing cancer therapy, with Programmed Death-ligand 1 (PD-L1), Microsatellite instability (MSI), and Tumor Mutational Burden (TMB) analysis being the biomarkers employed most commonly. …”
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    Comprehensive tumor molecular profile analysis in clinical practice
  15. 196535
    “…Molecular allele frequencies of kdr (1014F) and ace-1R (119S) insecticide resistance mutations and levels of detoxification enzymes were determined for mosquitoes sampled from each study area. …”
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    Intensity and mechanisms of deltamethrin and permethrin resistance in Anopheles gambiae s.l. populations in southern Benin
  16. 196536
    “…To better understand molecular processes by which NAA15 haploinsufficiency perturbs cardiac development, we introduced NAA15 variants into human induced pluripotent stem cells (iPSCs) and assessed the consequences of these mutations on RNA and protein expression. OBJECTIVE: We aim to understand the role of NAA15 haploinsufficiency in cardiac development by investigating proteomic effects on NatA complex activity and identifying proteins dependent upon a full amount of NAA15. …”
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    Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency
  17. 196537
    “…We also report 24 novel variants, most of these being frameshift and nonsense mutations resulting in premature termination of protein synthesis. …”
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    Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India
  18. 196538
    “…No correlation was found between the prevalence of hypertension and the type of mutations causing Fabry disease. CONCLUSION: Hypertension can be found in a restricted portion of clinically stable Fabry patients. …”
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    Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease
  19. 196539
    “…Targeted therapy was associated with the longest OS, highlighting the need for improved treatment options for tumors lacking targetable mutations. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12885-021-08096-w.…”
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    Retrospective analysis of real-world treatment patterns and clinical outcomes in patients with advanced non-small cell lung cancer starting first-line systemic therapy in the United Kingdom
  20. 196540
    “…We demonstrate that the pharmacological blockade of APA with its selective inhibitor RB150 restores the density of mature spines and significantly reduced filopodia-like processes in hippocampal organotypic slices cultures virally transduced with the Swedish mutated Aβ-precursor protein (βAPP). Pharmacological reduction of APA activity and lowering of its expression by shRNA affect pE3-42Aβ- and Aβ1-42-positive plaques and expressions in 3xTg-AD mice brains. …”
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    Aminopeptidase A contributes to biochemical, anatomical and cognitive defects in Alzheimer’s disease (AD) mouse model and is increased at early stage in sporadic AD brain
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