“…Positive H5N1 samples were sequenced and analysed for mutations. Tracheal swabs were also collected from 89 respiratory patients admitted to respiratory hospitals in the same study area. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Moreover, NLRP3-deficient mice carrying mutations associated with familial AD were partially protected from deficits associated with AD. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In this study, we investigated the role of each motif in EBNA3C transcriptional repression activity by using two novel recombinant viruses with single RBPJ interaction motifs mutated (EBNA3C HDmut and EBNA3C W227S). Infection of primary B cells with either of these recombinant EBVs led to the successful establishment of lymphoblastoid cell lines (LCLs). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This epidemic pre-XDR clone (mostly rifampin, isoniazid and kanamycin resistant) is characterized by a specific combination of mutations: KatG Ser315Thr, fabG1 -15C > T, RpoB Ser450Leu, RpsL Lys88Arg, eis -12G > A and EmbB Ser297Ala/T > G. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The main target of organophosphates is the enzyme acetylcholinesterase (AChE). Mutations in the AChE gene are the main cause of organophosphate resistance in arthropods, including other sea lice. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Age, gender, and presence of epidermal growth factor receptor gene mutations had no effect on consistency. In 82% (42/51) of the inconsistent cases, our team administered two China-specific treatments, which were different from the recommendations made by WFO but led to excellent outcomes. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Searching for variants with evidence of regulatory functions, we have reported interactions between CHRNA5 and CHRNA3 enhancer variants (tagged by rs880395 and rs1948, respectively) and rs16969968, forming 3-SNP haplotypes and diplotypes that may more accurately reflect the cluster’s combined effects on nicotine dependence (Barrie et al., Hum Mutat 38:112–9, 2017). Here we address further contributions by variants affecting CHRNB4, a possibly limiting component of nicotinic receptors. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The plasmids harboring these carbapenemase genes proved remarkably plastic, with plasmid loss and rearrangements occurring on the same time scale as two to three chromosomal point mutations. Combining short and long-read sequencing in a case cluster uniquely revealed unexpectedly rapid dynamics of carbapenemase plasmids, providing critical insight into their manner of spread. …”
Enlace del recurso
Enlace del recurso

“…Vaccine manufactured using seed virus wholly grown in mammalian (e.g., Madin–Darby Canine Kidney—MDCK) cells, as with the NH17-18 version of Flucelvax(®), avoids these mutations. Preliminary reports suggest that this cell-based vaccine showed greater VE than did similar egg-based vaccines [FDA Statement]. …”
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Mutations in KRAS are frequent in human cancer, yet effective targeted therapeutics for these cancers are still lacking. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…By utilising transgenic mouse mutations, we observe that neuronal ERK2 significantly contributes to tissue damage, while ERK1 and astrocytic ERK2 are neuroprotective. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…There is evolving evidence that will lead to more personalized treatment options for somatic BRCA mutated pancreatic cancer. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12885-018-5151-6) contains supplementary material, which is available to authorized users.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Niemann-Pick disease type A (NPDA), a disease caused by mutations in acid sphingomyelinase (ASM), involves severe neurodegeneration and early death. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Of the vivax patients, 15 of 16 completed CQ treatment and two had a recurrence of vivax malaria on day 28, a failure rate of 13.3% (2/15). No mutations in the Pfkelch-13 gene for artemisinin resistance or exo-E415G gene polymorphism and amplification in plasmepsins 2 and 3 for piperaquine resistance were observed. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: The use of whole-genome sequence (WGS) data for genomic prediction and association studies is highly desirable because the causal mutations should be present in the data. The sequencing of 935 sheep from a range of breeds provides the opportunity to impute sheep genotyped with single nucleotide polymorphism (SNP) arrays to WGS. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Several insertions or stop codon mutations were found within porin genes of K. pneumoniae, E. coli and S. marcescens isolates, both with and without carbapenemases. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…GPI attachment to proteins represents one of the most common PTMs and GPI-associated proteins (GPI-APs) facilitate many cell surface processes, including synapse development and maintenance. Mutations in the GPI processing pathway are associated with intellectual disability, emphasizing the potential role of GPI-APs in cognition and schizophrenia-associated cognitive dysfunction. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In 88.8% of the isolates (n = 8), MgrB was inactivated by Insertion of IS elements (IS1-like, IS3-like, IS5-like families, positions + 75, + 113, + 117, + 135) and nonsense mutations at codons 8, 16, 30. All ColR isolates harboured wild type PmrA, PhoP, PhoQ or polymorphic variants of PmrB. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Wilson disease (WD) is an autosomal recessive disease caused by mutations in ATP7B encoding a copper transporter. Consequent copper accumulation results in a variable WD clinical phenotype involving hepatic, neurologic, and psychiatric symptoms, without clear genotype–phenotype correlations. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Ten patients with EGFR-mutated non-small cell lung cancer underwent dynamic (18)F-fluorothymidine PET-CT before, 7 days after, and 28 days after commencing treatment with a tyrosine kinase inhibitor. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso