Results 211 to 220 of about 18,832,580 (328)

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

open access: yesFEBS Open Bio, EarlyView.
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

ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure. [PDF]

open access: yesBMC Oral Health
Zhang L   +9 more
europepmc   +1 more source

Novel nitrite reductase domain structure suggests a chimeric denitrification repertoire in the phylum Chloroflexi. [PDF]

open access: yesMicrobiologyopen, 2022
Schwartz SL   +5 more
europepmc   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

open access: yesFEBS Open Bio, EarlyView.
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

Imaging of electric-field-induced domain structure in DyMnO 3 nanocrystals. [PDF]

open access: yesDiscov Nano
Najeeb MA   +6 more
europepmc   +1 more source

Domain Structure, Thermal and Mechanical Properties of Polycaprolactone-Based Multiblock Polyurethane-Ureas under Control of Hard and Soft Segment Lengths. [PDF]

open access: yesPolymers (Basel), 2022
Bugrov AN   +10 more
europepmc   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

open access: yesFEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz   +6 more
wiley   +1 more source

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