Results 221 to 230 of about 187,917 (279)

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

Hands‐on protocol for preparing water‐soluble fractions from agri‐food samples for NMR‐based metabolomics analysis

open access: yesFEBS Open Bio, EarlyView.
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

Pulmonary mucormycosis in a young adult as a complication of a bronchopulmonary fistula. [PDF]

open access: yesRespir Med Case Rep
Mejía NAR   +4 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

TMC4 localizes to multiple taste cell types in the mouse taste papillae

open access: yesFEBS Open Bio, EarlyView.
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata   +6 more
wiley   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

open access: yesFEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava   +3 more
wiley   +1 more source

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