“…During the earliest stages of infection, this process of evolution is very rapid, driven by a small number of CTL escape mutations. As the infection progresses, immune escape variants evolve under reduced magnitudes of selection, while competition between an increasing number of polymorphic alleles (i.e., clonal interference) makes it difficult to quantify the magnitude of selection acting upon specific variant alleles. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Baseline demographics included 56 years median age, 60% male participants, and 23.7% with BRAF mutations. SMD analysis identified cut‐offs of SMD < 42 in those with BMI < 25 kg/m(2) and <20 HU in those with BMI ≥ 25 kg/m(2), respectively. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The H7N9 virus mutated in 2017, resulting in new cases of highly pathogenic avian influenza (HPAI) H7N9 virus infection. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Our findings were corroborated by P(Y)-lacZ reporter fusions with a series of site specific R1P(Y) promoter mutations. Sequential changes of some critical DNA bases in the TraJ binding site (jbs) from plasmid R1 to plasmid F led to a remarkable specificity switch: The P(Y) promoter became activatable by F encoded TraJ whereas TraJ(R)(1) lost its activation function. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Differences in other CAZy encoding genes that could potentially affect the lignocellulolytic activity of the strains were also predicted by comparison of genome assemblies (e.g., GH2, GH3, GH5, GH10, GH16, GH78, GT2, GT15, and CBM13). Overall, these mutations help to explain the phenotypic differences observed between both strains as they could interfere with the enzymatic activities, substrate binding ability or protein folding. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Its primary form is mostly seen in childhood and caused by various mutations with genetic inheritance and, therefore, is called familial HLH. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…A significant proportion of cases have a genetic origin, and the most frequently mutated gene is KCNQ2, encoding Kv7.2, a voltage‐dependent potassium channel subunit, leading to so‐called KCNQ2‐related epileptic encephalopathy (KCNQ2‐REE). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Background: Polycystic ovarian syndrome (PCOS) is a kind of common gynecological endocrine disorder. And the mutations of melatonin receptor (MTNR) genes are related to the occurrence of PCOS. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…For our observed data, the bone morphogenetic protein 1 (BMP1) gene on chromosome 8, the Violaxanthin de-epoxidase-related chloroplast (VDR) gene on chromosome 12 associated with OI, and the tetratricopeptide repeat domain 7A (TTC7A) gene on chromosome 2 associated with MIA have previously been identified as harboring the relevant pathogenic mutations. CONCLUSIONS: When compared to HDR-del, our eMSS is powerful in analyzing even small numbers of recessive cases, and the results show that the method can further reduce numbers of candidate variants to a very small set of susceptibility pathogenic variants underlying OI and MIA. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Akin to the reference strains DSM20016 and SD2112, the novel isolates were resistant to penicillin, possibly associated with identified point mutations in ponA, pbpX, pbpF and pbpB. All strains resistant to erythromycin (4/27) carried the ermB gene, and it was only present in chicken strains. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…However, it is unclear how hemophilia patients with high risk inhibitor F8 mutations or with established inhibitors will respond to gene therapy, as these patients have been excluded from ongoing clinical trials. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…RESULTS: A total of 20 patients (median age: 69 years; 14 males; 20 adenocarcinomas; six epidermal growth factor receptor mutations) were enrolled in nine centers. The PECR was 80% and the primary end point was met. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Amplification and sequencing suggested the lsaA gene to be complete in all E. faecalis isolates resistant to clindamycin and quinupristin-dalfopristin, while the gene contain mutations rendering to a non-functional LsaA in susceptible isolates. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…All participants were subjected to a comprehensive ophthalmic clinical examination and peripheral blood samples were collected and their genomic DNA was extracted. Mutations were screened among 792 candidate genes to enhance understanding of the disease through targeted capture and high‐throughput sequencing. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Programmed death ligand-1 (PD-L1) protein immunohistochemical expression on cancer cells or immune cells and next-generation sequencing-based tumor mutational burden (TMB) are hot spots in studies on ICIs, but there is still confusion in the testing methods. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…According to cytogenetic and molecular characteristics, 11 patients had gene mutations related to myeloid tumors, and 7 with high risk Karyotype. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Background: Discrepant thyroid function tests (TFTs) are typical of inappropriate secretion of TSH (IST), a rare entity encompassing TSH-secreting adenomas (TSHoma) and Resistance to Thyroid Hormone (RTHβ) due to THRB mutations. The differential diagnosis remains a clinical challenge in most of the cases. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…While erlotinib is primarily administered to patients with non-small cell lung cancer with sensitizing epidermal growth factor receptor (EGFR) mutations, it is also prescribed to patients with wild type (wt) EGFR in higher lines of treatment. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…An especially early onset form of RP with blindness in teenage years is caused by mutations in mertk, the gene encoding the clearance phagocytosis receptor Mer tyrosine kinase (MerTK). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We clarified the possible mechanism underlying mis‐splicing BCR‐ABL(Ins35bp), occurring at the particular pseudo‐splice site within intron8, which can be augmented by TKI treatment through inhibition of RNA polymerase II phosphorylation. No mutations were found in spliceosomal genes. Therefore, monitoring IS functional BCR‐ABL extracting BCR‐ABL(Ins35bp) would lead us to a correct evaluation of MR status, thus determining the adequate therapeutic intervention.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso