Copy number variants typically involve DNA segments that are smaller than those recognized microscopically (<3 Mb) and larger than those recognized by direct sequencing (>1 kb). This includes so-called large-scale variants (>50 kb) that can be detected using CGH.16 There are two types of ...
2788 – Large-scale mutation screening of the putative autism susceptibility gene SCN2A in schizophreniaRecent genetic findings suggest shared genetic risk between autism, epilepsy and schizophrenia. A sodium channel subunit gene, SCN2A, exhibits de novo stop-codon mutations in individuals with autism ...
Novel estimator for the change in stability upon point mutation in monomeric and multimeric proteins. - sailfish009/proteinmpnn_ddg
aquaporin 1, or the tight junction protein, claudin-1 (1:100 antibody dilutions). Protein expression is shown in WT and hydrocephalic rats at birth (P0) and P15. DAPI staining allows for visualization of nuclei.
food, and pickled vegetables. However, the incidence rates of ESCC are broadly in decline due to improved living standards in China. In Western countries, the reduction of ESCC incidence is considered primarily due to a large-scale decline in cigarette smoking6. For certain types of cancer, ...
0 × (% of cells in bin 0) + 1 × (% of cells in bin 1) + 2 × (% of cells in bin 2) + 3 × (% of cells in bin 3) + 4 × (% of cells in bin 4). H-scores will be given on a scale of 0–400. H-score = (% at...
Fig. 1 Properties of wt and mutated Aβ assemblies.a.Representative electron microscopy images of small and large particles in Aβwtand Aβosasolution. Scale bars: 100 nm.b.Kinetics of synthetic Aβ1-42aggregation monitored by thioflavin T fluorescence in the absence and presence of Aβwtand...
Altshuler DL, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Collins FS, De la Vega FM, Donnelly P, Egholm M, et al: A map of human genome variation from population-scale sequencing. Nature. 2010, 467 (7319): 1061-1073. 10.1038/nature09534. Article PubMed Google Schol...
The D614G mutation in the spike protein of SARS-CoV-2 alters the fitness of the virus, leading to the dominant form observed in the COVID-19 pandemic. However, the molecular basis of the mechanism by which this mutation enhances fitness is not clear. Here we demonstrated by cryo-electron ...
(2023), pp. 634-644 crossref view in scopus google scholar 49 r thijssen, l tian, ma anderson, et al. single-cell multiomics reveal the scale of multilayered adaptations enabling cll relapse during venetoclax therapy blood, 140 (20) (2022), pp. 2127-2141 crossref view in scopus google...