Results 251 to 260 of about 262,173 (350)

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

GM2 Gangliosidosis AB Variant: A Hidden Truth. [PDF]

open access: yesCureus
Noites I   +9 more
europepmc   +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

SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1

open access: yesFEBS Open Bio, EarlyView.
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl   +13 more
wiley   +1 more source

Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression. [PDF]

open access: yesPLoS One
Hamadi A   +10 more
europepmc   +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

Evaluation of in vitro toxicity of common phytochemicals included in weight loss supplements using 1H NMR spectroscopy

open access: yesFEBS Open Bio, EarlyView.
We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies   +3 more
wiley   +1 more source

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