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Ubiquitous mutation
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Although scRNA-seq is now ubiquitously adopted in studies of intratumor heterogeneity, detection of somatic mutations and inference of clonal membership from scRNA-seq is currently unreliable. We propose DENDRO, an analysis method for scRNA-seq data that clusters single cells into genetically distinct subclones and reconstructs the phylogenetic tree relating the subclones.
15p
viarchimedes
26-01-2022
6
0
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Mutations in minor spliceosome components such as U12 snRNA (cerebellar ataxia) and U4atac snRNA (microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)) result in tissue-specific symptoms.
19p
visilicon2711
20-08-2021
15
1
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Because ribosomes are ubiquitously required for protein production, it was long assumed that any inherited defect in ribosome manufacture would be embryonically lethal. However, several human congenital diseases have been found to be associated with mutations in ribosome biogenesis factors.
13p
viwyoming2711
16-12-2020
15
1
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A unified analysis of DNA sequences from hundreds of tumors concluded that the driver mutations primarily occur in the earliest stages of cancer formation, with relatively few driver mutation events detected in the late-arising subclones.
10p
vibaku2711
22-07-2020
12
1
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Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function. Mutations in its gene give rise to X-linked Emery–Drei-fuss muscular dystrophy (X-EDMD), a neuromuscular condition with an associated life-threatening cardiomyopathy. We have previously reported that emerin is phosphorylated in a cell cycle-dependent manner in human lymphoblastoid cell lines [Ellis et al. (1998) Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the EDMD phenotype.J. Cell Sci. 111, 781–792]. ...
14p
research12
29-04-2013
36
2
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Exoribonuclease II (RNase II), encoded by thernb gene, is a ubiquitous enzyme that is responsible for 90% of the hydrolytic activity in Escherichia colicrude extracts. The E. colistrain SK4803, carrying the mutant allelernb296, has been widely used in the study of the role of RNase II. We determined the DNA sequence ofrnb296 and cloned this mutant gene in an expression vector. Only a point mutation in the coding sequence of the gene was detected, which results in the single substitution of aspartate 209 for asparagine....
0p
awards
05-04-2013
41
1
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