Results 41 to 50 of about 13,431 (261)
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS 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
Effect of Socioeconomic Variables in Predicting Global Fire Ignition Occurrence
Fire, 2023 Fires are a pervasive feature of the terrestrial biosphere and contribute large carbon emissions within the earth system. Humans are responsible for the majority of fire ignitions.
Tichaona Mukunga +6 more
doaj +1 more source
TMC4 localizes to multiple taste cell types in the mouse taste papillae
FEBS 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
A global behavioural model of human fire use and management: WHAM! v1.0 [PDF]
Geoscientific Model DevelopmentFire is an integral ecosystem process and a major natural source of vegetation disturbance globally. Yet at the same time, humans use and manage fire in diverse ways and for a huge range of purposes.
O. Perkins +12 more
doaj +1 more source
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
Extension of Large Fire Emissions From Summer to Autumn and Its Drivers in the Western US
Earth's Future, 2023 Burned areas in the western US have increased ten‐fold since 1980s, which are attributable to multiple factors, including increasing heat, changing precipitation patterns, and extended drought.
S. S.‐C. Wang, L. R. Leung, Y. Qian
doaj +1 more source
Forest Ecosystems, 2023 Ongoing climate changes have a direct impact on forest growth; they also affect natural fire regimes, with further implications for forest composition. Understanding of how these will affect forests on decadal-to-centennial timescales is limited. Here we
Meng Meng +7 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source