Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach +14 more
wiley +1 more source
A gram‐scale supply of bulbiferamide A, which features a rare N‐acylindole linkage and possesses potent inhibitory activity against Trypanosoma cruzi epimastigotes (IC50 = 4.1 µM)—the causative parasite of Chagas disease—was successfully achieved. Moreover, the cyclization strategy developed in this study facilitated the synthesis of noncanonical ...
Jie Zhang, Hugh Nakamura
wiley +2 more sources
Impaired dNKAP function drives genome instability and tumorigenic growth in Drosophila epithelia. [PDF]
Guo T +13 more
europepmc +1 more source
RNA Polymerase II subunits overexpressions induce genome instability and deregulate transcription
Sadurni MM +8 more
europepmc +1 more source
Expression of human RECQL5 in Saccharomyces cerevisiae causes transcription defects and transcription-associated genome instability. [PDF]
Lafuente-Barquero J +3 more
europepmc +1 more source
Detection of genome instability by 53BP1 expression as a long-lasting health effect in human epidermis surrounding radiation-induced skin cancers. [PDF]
Matsuda K +5 more
europepmc +1 more source
Identification of different classes of genome instability suppressor genes through analysis of DNA damage response markers. [PDF]
Li BZ, Kolodner RD, Putnam CD.
europepmc +1 more source
Dysregulation of U12‐Type Splicing in Lupus Neutrophils
Abstract. Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and post‐transcriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron ...
Luz P. Blanco +11 more
wiley +1 more source
Human DNA topoisomerase I poisoning causes R loop-mediated genome instability attenuated by transcription factor IIS. [PDF]
Duardo RC +8 more
europepmc +1 more source

