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Somatic mutations of the histone H3K27 demethylase, UTX, in human cancer
UTX reintroduction into cancer cells with inactivating UTX mutations resulted in slowing of proliferation and marked transcriptional changes, identifying UTX as a new human cancer gene.
Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation.
- E. Nollen, S. Garcia, R. Plasterk
- BiologyProceedings of the National Academy of Sciences…
- 27 April 2004
A screen identified 186 genes corresponding to five principal classes of polyglutamine regulators: genes involved in RNA metabolism, protein synthesis, protein folding, and protein degradation; and those involved in protein trafficking, proposing that each represents a molecular machine collectively comprising the protein homeostatic buffer that responds to the expression of damaged proteins to prevent their misfolding and aggregation.
Exogenous Anandamide Protects Rat Brain against Acute Neuronal Injury In Vivo
It is shown that exogenously administered AEA dose-dependently reduced neuronal damage in neonatal rats injected intracerebrally with the Na+/K+-ATPase inhibitor ouabain, and the data seem to question a possible role of the endogenous cannabinoid system in establishing a brain defense system in the authors' model.
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
The largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families, is presented, with consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face.
Loss of syntaxin 3 causes variant microvillus inclusion disease.
It is concluded that loss of STX3 function causes variant MVID, and patient-derived organoid cultures and overexpression of truncated STx3 in Caco-2 cells recapitulated most characteristics of variant M VID.
E2F mediates enhanced alternative polyadenylation in proliferation
It is demonstrated that the enhanced alternative polyadenylation in proliferative conditions results not only in global 3' UTR shortening but also in enhanced premature cleavage in introns, indicating that E2F-mediated co-transcriptional regulation of 3'-end processing genes is one of the mechanisms that links enhanced alternativepolyadenylations to proliferation.
RAP‐1 and the RAL‐1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans
Genetic interactions show that the RAP‐1 and RAL‐1/exocyst pathway also act in parallel during larval stages, and in vivo evidence for the exocyst complex as a downstream Ral‐1 effector in cell migration is provided.
Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi.
An RNA interference (RNAi)-based genome-wide screen was performed to detect genes that contribute to genome stability in somatic cells of Caenorhabditis elegans. We identified 61 such genes; these…
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation inCECR1 Disease modifiers, including epigenetic and environmental factors, thus seem important in determining the phenotype.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics.