Correlated mutation analysis using a combination of amino acid and codon sequence alignments improves predictions of amino acid residue contacts in proteins.
Mutations causing proinsulin misfolding trigger unfolded protein response and lead to impaired proliferation and reduced mTORC1 signalling of developing beta-cells in a patient-derived induced pluripotent stem cell disease model.
A mutagenesis screen in budding yeast sheds light on dynein regulation and function, and reveals the molecular basis for disease in patients suffering from neuropathies caused by dynein dysfunction.
Many tumors are depleted of mitochondrial DNA; this depletion is associated with changes in gene expression and with the incidence of critical somatic mutations and alterations.
Correction of the DNA methyltransferase 3B gene in ICF1 syndrome fails to rescue the abnormal DNA hypomethylation at subtelomeric regions due to accompanied epigenetic abnormalities in these regions.
Post-translational modification of histone H3K36 is not required to suppress cryptic transcription initiation or to include alternative exons in Drosophila; instead it promotes expression of active genes by stimulating polyadenylation.
Zebrafish studies are able to predict loci and biological pathways affecting human behaviour, paving the way to better understanding of the biological underpinnings of psychiatric disease.
GFAP protein carries a distinct post-translational modification signature that facilitates its pathogenic accumulation and aggregation in astrocytes of patients who succumb to Alexander Disease very early in life.
A new statistical approach identifies non-coding regulatory regions of genes as driver candidates with recurrent mutations across cancer samples that associate with gene expression, patient survival or mutational phenotype.
