“…BACKGROUND: Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Patients had no darunavir resistance-associated mutations (RAMs), plasma viral load (VL) ≥1000 HIV-1 RNA copies/ml, eGFR ≥80 ml/min and genotypic sensitivity to the two N[t]RTIs. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Our observations suggest that patients carrying mutations UGT1A4(48Val), UGT2B7(268Tyr) or with wt genotypes for UGT2B17(nodel) and UGT2B15(523Lys) could be the best candidates for a good response to tamoxifen therapy in terms of eliciting effective plasma active tamoxifen metabolite levels. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Quantitative IgE binding to rBet v 1a depends on its native protein conformation, which might be compromised upon heterologous expression, purification, or mutational engineering of rBet v 1a. OBJECTIVE: To correlate experimental/theoretical comparisons of IgE binding of defined molar ratios of folded/misfolded recombinant Bet v 1a variants and to determine accuracy and precision of immuno- and physicochemical assays routinely used to assess the quality of recombinant allergen preparations. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Most laboratory mouse strains, including C57BL/6J, carry nonsense or deletion mutations in Mx1 and thus a nonfunctional allele, whereas wild-derived mouse strains carry a wild-type Mx1 allele. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Differences detected at the transcript level may be due to T-DNA insert locations, random mutations following transformation or direct effects of the recombinant protein itself, or a combination of these. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Whole-exome sequencing in non-syndromic POI kindreds has only recently begun, revealing mutations in the Stromal antigen 3 (STAG3), Synaptonemal complex central element 1 (SYCE1), minichromosome maintenance complex component 8 and 9 (MCM8, MCM9) and ATP-dependent DNA helicase homolog (HFM1) genes. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We and others have demonstrated that DMD mutations alter ATP signaling and have identified P2RX7 purinoceptor up-regulation as being responsible for the death of muscles in the mdx mouse model of DMD and human DMD lymphoblasts. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Conversely, lower CRY and CRY2 levels as in HT29 and SW480 cells coincided with a mutated p53 and a more robust apoptosis and proliferation upon CRY transfection. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Specificity of mAbs reacting with the DBL1 adhesion domain was explored using recombinant proteins carrying mutations abolishing RBC binding or binding to heparin, a potent inhibitor of rosette formation. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…TP53 is one of the most frequently mutated genes in human cancer, and these alterations can occur during the early stages of oncogenesis or as later events as tumors progress to more aggressive forms. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Moreover, protein-protein interactions were studied to investigate the effect of MYH1 mutations on association with hub proteins, and MYH1 was found to be closely associated with the protein myosin light chain, phosphorylatable, fast skeletal muscle MYLPF. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We analyzed the responses to the vaccine H1N1 (H1N1-09), to the circulating H1N1 (H1N1-14), which had significant mutations compared to H1N1-09 and to B Yamagata (BY), which had the highest effectiveness in 2013–2014. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The PCR did not detect K13-propeller mutations. CONCLUSION: Imported P. falciparum caused the outbreak. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Duchenne and Becker muscular dystrophy (DMD and BMD) are X-chromosomal recessive neuromuscular disorders that are caused by mutations in the dystrophin gene and characterized by cardiac involvement. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Apart from one intronic SNP of SLC4A11 from dbSNP (rs372201212), the pathologic consequence of which is uncertain, and 2 intron variants of LOXHD1 (c.5332-126C>T and c.1809+155G>A); the variants likely represent examples of de novo mutations. Neither of the other 24 variants provided strong evidence of pathogenesis in this FCD pedigree. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Analysis of tumour samples from women of European descent has shown that germline APOBEC3B deletion is associated with an increased propensity to develop somatic mutations and with an enrichment for immune response-related gene sets. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Whole exome sequencing performed at five successive stages during this process was used to identify single point mutational events, insertions/deletions and copy number alterations associated with the acquisition of docetaxel resistance. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The functional significance of regulatory and coding (frameshift and large-effect mutations) InDel markers for establishing marker-trait linkages through association/genetic mapping was apparent. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The mechanisms of the beneficial effects of PegINFα are not clear, but available evidence suggests direct suppression of JAK2-mutated clone, induction of dormant stem cells to proliferation, and augmentation of an immune effect against PV and ET clones. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso