“…Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.31 microdeletion syndrome. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Findings were compared with results primarily of the anti-citrullinated cyclic peptide 2 (anti-CCP-2) assay but also with anti- CCP-3 and anti-mutated citrullinated vimentin (anti-MCV) assays. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…While decreasing the isoelectric point of double disulfide mutants of single domain antibodies may improve protein production, charge addition appears to consistently improve refolding and some charge changes can also improve thermal stability, thus providing a number of benefits making the examination of such mutations worth consideration. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12934-015-0340-3) contains supplementary material, which is available to authorized users.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Human DYRK1A lies in the Down syndrome critical region on chromosome 21, and heterozygous mutations in the gene cause microcephaly and neurological dysfunction. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…RESULTS: We observe three nonsynonymous and two synonymous mutations. A modified McDonald Kreitman’s test failed to detect a significant signal of purifying selection. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…There was no association of the 5-Aza/erismodegib sensitization potential to clinical-cytogenetic features or common myeloid mutations. Activation of the HhP, as determined by greater expression of HhP-related genes, showed less responsiveness to single-agent SMO inhibition, while synergy between both agents was similar regardless of HhP gene expression. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: The populations of the Arabian Peninsula remain the least represented in public genetic databases, both in terms of single nucleotide variants and of larger genomic mutations. We present the first high-resolution copy number variation (CNV) map for a Gulf Arab population, using a hybrid approach that integrates array genotyping intensity data and next-generation sequencing reads to call CNVs in the Qatari population. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We identified a conserved CT-rich motif in the intron with a consensus sequence of TYTCCCYCTCCYCCCCACWYCCGA, deletion or point mutations of which drastically reduced promoter strength under both inducing and non-inducing conditions. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…CONCLUSIONS: The genome of attenuated S. agalactiae YM001 showed significant variations, resulting in the deletion of 10 functional genes, compared to the parental pathogenic strain HN016. The deleted and mutated functional genes all encode metabolism- and growth-related proteins, not the known virulence proteins, indicating that the metabolism- and growth-related genes are important for the pathogenesis of S. agalactiae. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This study aimed to assess the pattern of P. falciparumdihydrofolate reductase(Pfdhfr) and dihydropteroate synthetase (Pfdhps) mutations and associated haplotypes in areas with different malaria transmission intensities in mainland Tanzania, 6 years after withdrawal of SP as a first-line treatment regimen for uncomplicated malaria. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Also unknown is how sex differences at the protein level are perturbed by mutations that lead to intellectual disability (ID). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Naturally occurring resistance-associated mutations (C316N, A421V, C445F, I482L, V494A, and V499A) to NS5B polymerase inhibitors were detected in direct-acting antivirals (DAAs)-naïve IDUs. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Interestingly, yeast two-hybrid analysis revealed a novel interaction between the p2 peptide and the mitochondrial intermembrane space domain (N(214)–F(235)) of MT-CO subunit I (MT-CO1). Mutational analysis indicated that Gln(6) in the p2 peptide is important for the interaction with MT-CO1. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Familial triple-negative breast cancers are often linked to mutations in the BRCA1 tumor suppressor gene. In sporadic triple-negative breast cancers BRCA1 is frequently inactivated at the transcriptional level, and it has been reported that this inactivation may be brought about by promoter methylation. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Our aim was to characterize HCV prevalence, risk factors for HCV co-infection, and patterns of HIV and HCV co-transmission and transmitted drug resistance mutations (DRMs) in newly HIV-diagnosed Los Angeles MSM. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The K(cat)/K(m) value of M3 is 3-fold higher than that of Bgl6. The mutations maintained its high glucose-tolerance with IC(50) of 3.0 M for M3. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Although fluoroquinolone resistance is traditionally associated with mutations in the gyrA/topoisomerase IV genes, there is increasing evidence of plasmid-mediated quinolone resistance, which is primarily encoded on qnr genes. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Next-generation transcriptome sequencing (RNA-Seq) has become the standard practice for studying gene splicing, mutations and changes in gene expression to obtain valuable, accurate biological conclusions. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…RESULTS: The most prevalent mutations were those of TP53 and BRAF; repeated alterations of the epigenetic machinery such as frame-shift deletions of HDAC10 and EP300, loss of SMARCA2 and fusions of MECP2, BCL11A and SS18 were observed. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…CONCLUSION: We argue that tumor initiation (transformation and fixation of mutations) may be similar in parous and age-matched virgin animals, suggesting that the main differences in tumor formation lie in differences in tumor progression caused by the altered hormonal environment associated with parity. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso