Results 191 to 200 of about 643,564 (261)

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

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

Down‐regulation of Shh in the hair follicles of mice during chemotherapy‐induced hair loss is mediated by the JAK/STAT1 signaling pathway

open access: yesFEBS Open Bio, EarlyView.
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

Raman‐based label‐free microscopic analysis of the pancreas in living zebrafish larvae

open access: yesFEBS Open Bio, EarlyView.
Forward stimulated Raman scattering (F‐SRS) and epi coherent anti‐Stokes Raman scattering (E‐CARS) allow label‐free discrimination of distinct subcellular structures in the pancreas of living zebrafish larvae. Given the straightforward applicability, we anticipate broad implementation of Raman microscopy in other organs and across various biomedical ...
Noura Faraj   +3 more
wiley   +1 more source

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

open access: yesFEBS Open Bio, EarlyView.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid   +3 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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