Results 231 to 240 of about 251,092 (316)
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Danmu subtitling as a self-regulative practice: a descriptive discourse analysis of Bilibili danmu subtitles from ethical perspectives. [PDF]
Zeng D.
europepmc +1 more source
This research protocol outlines a workflow for nuclear magnetic resonance (NMR)‐based metabolomics in the agri‐food sector. Using two case studies—strawberry leaves (solid matrix) and wine (liquid matrix)—it details the procedures for sample preparation, data acquisition, and processing.
Andrea Fernández‐Veloso +4 more
wiley +1 more source
AlfaPang: alignment free algorithm for pangenome graph construction. [PDF]
Cicherski A, Lisiecka A, Dojer N.
europepmc +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Information based explanation methods for deep learning agents-with applications on large open-source chess models. [PDF]
Hammersborg P, Strümke I.
europepmc +1 more source
We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan +6 more
wiley +1 more source
Scalable deep learning reconstruction for accelerated multidimensional nuclear magnetic resonance spectroscopy of proteins. [PDF]
Huang Y +10 more
europepmc +1 more source

