Results 201 to 210 of about 9,013,912 (355)

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

Proof-of-TBI -- Fine-Tuned Vision Language Model Consortium and OpenAI-o3 Reasoning LLM-Based Medical Diagnosis Support System for Mild Traumatic Brain Injury (TBI) Prediction [PDF]

open access: green
Ross Gore   +12 more
openalex   +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

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

Beyond black-box AI: Interpretable hybrid systems for dementia care. [PDF]

open access: yesAlzheimers Dement (Amst)
Kang MJY   +4 more
europepmc   +1 more source

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