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  1. 197301
    “…The proportion of parasite alleles with dhps K540E mutations increased but remained below the 50% WHO-recommended threshold for IPTi (4.1% pre-IPTi [95%CI 2–7%]; 11% post-IPTi [95%CI 8–15%], p < 0.01). …”
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    Evaluation of health system readiness and coverage of intermittent preventive treatment of malaria in infants (IPTi) in Kambia district to inform national scale-up in Sierra Leone
  2. 197302
    “…Patients with ATTR-PN were stressed not only by the physical consequences of their illness, but also by its effects on their parents and other relatives, as well as concerns about children and grandchildren inheriting the disease-causing mutations associated with ATTR. Despite such challenges, family members are identified as an important resource of coping, motivation, inspiration and support. …”
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    Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups
  3. 197303
    “…The feasibility of this process relies on the accuracy of the genotype imputation in that population, particularly for potential causal mutations which may be at low frequency and either within genes or regulatory regions. …”
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    Imputation accuracy to whole-genome sequence in Nellore cattle
  4. 197304
    “…CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. …”
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    Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
  5. 197305
    “…This aspect is of great concern for wildlife conservation and human health, because the list of highly susceptible animal groups that have contracted SARS-CoV-2 (bats, mustelids, and primates) is large and, once infected, these groups can act as vectors and reservoirs, becoming a substrate for viral mutations and recombinations and boosting the risk of new strains emerging, which can return to humans as new diseases. …”
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    Coronavirus from cities to forests: mapping vulnerable interfaces and hotspots for SARS-CoV-2 spillover from humans to biodiversity
  6. 197306
    “…We detected two novel mutations in the quinolone-resistant determining region of the gyrA in fluoroquinolone-resistant E. coli (Leu-102-Ala; Gly-105-Val). …”
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    Genetic mechanisms and correlated risk factors of antimicrobial-resistant ESKAPEE pathogens isolated in a tertiary hospital in Malaysia
  7. 197307
    “…The expression system for wild-type and mutated GPR55 was HeLa cells silenced for their endogenous receptor by stable expression of a short-hairpin RNA specific for GPR55 5′-UTR, which allowed definition of the requirement of GPR55 Lys(80) for LPI-induced MAPK activation and receptor internalisation. …”
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    Peptide targeting of lysophosphatidylinositol-sensing GPR55 for osteoclastogenesis tuning
  8. 197308
    “…Our results demonstrate that clones SP263 and SP142 bind to an identical epitope in the cytoplasmic domain at the extreme C-terminus of PD-L1, distinct from 22C3 and 28-8. Using mutated PD-L1 constructs, an additional clone, E1L3N, was also found to bind to the cytoplasmic domain of PD-L1. …”
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    Mapping the binding sites of antibodies utilized in programmed cell death ligand-1 predictive immunohistochemical assays for use with immuno-oncology therapies
  9. 197309
    “…Inactivation of mgrB gene due to nonsense mutations and insertion of IS elements was observed in 6 colistin resistant isolates. …”
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    Molecular characteristics of antibiotic-resistant Escherichia coli and Klebsiella pneumoniae strains isolated from hospitalized patients in Tehran, Iran
  10. 197310
    “…Due to veterinary and public health significance, these HPAIVs, as well as low pathogenicity (LP) H5-subtype AIVs having a propensity to mutate into HP viruses, are under epidemiologic surveillance and must be reported to the World Organization for Animal Health (OIE). …”
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    A novel epitope-blocking ELISA for specific and sensitive detection of antibodies against H5-subtype influenza virus hemagglutinin
  11. 197311
    “…LRRC4 regulates the formation of excitatory synapses and promotes axon differentiation. Mutations in LRRC4 occur in Autism Spectrum Disorder (ASD) and intellectual disability. …”
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    LRRC4 functions as a neuron-protective role in experimental autoimmune encephalomyelitis
  12. 197312
    por Younes, Maged, Aquilina, Gabriele, Castle, Laurence, Engel, Karl‐Heinz, Fowler, Paul, Frutos Fernandez, Maria Jose, Fürst, Peter, Gundert‐Remy, Ursula, Gürtler, Rainer, Husøy, Trine, Manco, Melania, Mennes, Wim, Moldeus, Peter, Passamonti, Sabina, Shah, Romina, Waalkens‐Berendsen, Ine, Wölfle, Detlef, Corsini, Emanuela, Cubadda, Francesco, De Groot, Didima, FitzGerald, Rex, Gunnare, Sara, Gutleb, Arno Christian, Mast, Jan, Mortensen, Alicja, Oomen, Agnes, Piersma, Aldert, Plichta, Veronika, Ulbrich, Beate, Van Loveren, Henk, Benford, Diane, Bignami, Margherita, Bolognesi, Claudia, Crebelli, Riccardo, Dusinska, Maria, Marcon, Francesca, Nielsen, Elsa, Schlatter, Josef, Vleminckx, Christiane, Barmaz, Stefania, Carfí, Maria, Civitella, Consuelo, Giarola, Alessandra, Rincon, Ana Maria, Serafimova, Rositsa, Smeraldi, Camilla, Tarazona, Jose, Tard, Alexandra, Wright, Matthew
    Publicado 2021
    “…With respect to genotoxicity, the Panel concluded that TiO(2) particles have the potential to induce DNA strand breaks and chromosomal damage, but not gene mutations. No clear correlation was observed between the physico‐chemical properties of TiO(2) particles and the outcome of either in vitro or in vivo genotoxicity assays. …”
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    Safety assessment of titanium dioxide (E171) as a food additive
  13. 197313
    “…Multiple RBC transfusions cause secondary iron overload and subsequent excessive generation of reactive oxygen species (ROS), which leads to mutations, cell death, organ failure, and inferior disease outcomes. …”
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    The effects of secondary iron overload and iron chelation on a radiation-induced acute myeloid leukemia mouse model
  14. 197314
    “…The most recent sub-clade C5.1 (since 2013) was associated with non-synonymous mutations and a higher mortality rate. Phylogeographic analyses pointed to Riyadh of Saudi Arabia and Abu Dhabi of the United Arab Emirates as the hubs for both local and international spread of MERS-CoV. …”
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    Epidemiology and evolution of Middle East respiratory syndrome coronavirus, 2012–2020
  15. 197315
    “…CONCLUSIONS: Adjuvant pembrolizumab after complete resection of melanoma with node involvement is highly cost-effective relative to watchful waiting in Argentina, across disease stage subgroups and BRAF mutational status. This strongly supports its coverage and reimbursement across the entire health system.…”
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    Cost-Effectiveness of Pembrolizumab for the Adjuvant Treatment of Melanoma Patients with Lymph Node Involvement Who Have Undergone Complete Resection in Argentina
  16. 197316
    “…CONCLUSIONS: The co-expression of low-risk HPV E6/E7 and EBV LMP-1 does not induce malignant transformation, but it allows accumulation of somatic mutations secondary to increased DNA damage and suppression of DDR. …”
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    Co-expression of low-risk HPV E6/E7 and EBV LMP-1 leads to precancerous lesions by DNA damage
  17. 197317
    “…BACKGROUND: Somatic mutations in Wilms' tumor 1 (WT1) and tet methylcytosine dioxygenase 2 (TET2) genes were separately perceived as contributors to hematopoietic disorders and usually thought to have a mutually exclusive effect in acute myeloid leukemia (AML). …”
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    Novel combined variants of WT1 and TET2 in a refractory and recurrent AML patient
  18. 197318
    “…Moreover, ASD prevalence increases further as AD severity worsens, though these disorders share no common causative mutations. We assessed here the link between these two disorders in the standard, valproic acid mouse model of ASD. …”
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    Phenotypic overlap between atopic dermatitis and autism
  19. 197319
    “…Our lab has developed a mouse model in which a mutated, oxygen-stable form of HIF1α (HIF-PPN) can be inducibly expressed in cardiomyocytes. …”
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    Ischemic heart injury leads to HIF1-dependent differential splicing of CaMK2γ
  20. 197320
    “…Brain samples from frontotemporal lobar degeneration due to microtubule associated protein tau (FTLD-MAPT) mutations were also included as a distinct tauopathy phenotype for comparison. …”
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    A proteomic network approach resolves stage-specific molecular phenotypes in chronic traumatic encephalopathy
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