Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
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
Comparison of heat acclimation after once daily and thrice daily heat exposures in healthy adults. [PDF]
Rosales AM +5 more
europepmc +1 more source
ATP13A2 is involved in intracellular polyamine transport in lung epithelial cells
Spermidine transport in lung epithelial cells involves the polyamine transporter ATP13A2. Cell proliferation is associated with the upregulation of ATP13A2. Polyamines are present in all living cells and are implicated in various crucial cellular processes such as proliferation, apoptosis and autophagy.
Yuta Hatori +8 more
wiley +1 more source
Confirmation of a Useful Dark-Room Resting-State Procedure: Periodic and Aperiodic MEG Activity in Children. [PDF]
McNamee M +14 more
europepmc +1 more source
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
Clinical features and advances in the genetics of periodic paralysis. [PDF]
Luo M, Liu B, Xu J, Meng D.
europepmc +1 more source
Raman‐based label‐free microscopic analysis of the pancreas in living zebrafish larvae
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
A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1<sup>-/y</sup> mice. [PDF]
Kornfeld-Sylla SS +13 more
europepmc +1 more source
SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1
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
Resting state aperiodic and periodic EEG activity in preschool-aged autistic children: differences from neurotypical peers and links to language skills. [PDF]
Chen Y +4 more
europepmc +1 more source

