Results 181 to 190 of about 98,650 (241)
Abstract figure legend Beat‐locked mitochondrial ATP transients reveal modular, sex‐specific bioenergetic control during excitation–contraction coupling. A, each action potential activates L‐type CaV1.2 channels, producing a Ca2+ influx that triggers ryanodine receptors (RyR2) and elicits SR Ca2+ release.
Paula Rhana +2 more
wiley +1 more source
Estuarine ecosystems are experiencing increasing land‐derived stress, bringing sediments, excess nutrients and contaminants. Once degraded, disturbed soft sediment ecosystems can take years to recover because long‐lived, functionally important species that aid recovery are lost.
Natalie Prinz +6 more
wiley +1 more source
Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey? [PDF]
Roman TS +8 more
europepmc +1 more source
Pathogenic variants alter hepaCAM protein distribution. Astrocyte‐specific hepaCAM TurboID reveals KCNQ2 as a new interaction partner. Pathogenic variants alter hepaCAM association with key transmembrane proteins. ABSTRACT Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early‐onset macrocephaly,
Robert W. Lewis +10 more
wiley +1 more source
The Long and Winding Road: Diagnostic Delays in Functional Seizures. [PDF]
Terman SW.
europepmc +1 more source
ABSTRACT Pyruvate dehydrogenase complex (PDHc) deficiency (PDCD) is a primary mitochondrial disorder characterized by neurodevelopmental disability, altered intermediary metabolism, and early mortality. Dichloroacetate (DCA), a pyruvate analog, activates PDHc and remains under clinical investigation for treatment of PDCD.
Cristina Remes +10 more
wiley +1 more source
On the measurement of glomerular filtration rate: An odyssey into the milieu intérieur
Experimental Physiology, EarlyView.
Anders Møller Greve +4 more
wiley +1 more source
Abstract Dedifferentiated endometrial carcinoma occurs when a prognostically favorable low‐grade endometrial carcinoma transforms into a highly aggressive undifferentiated carcinoma following genomic inactivation of core SWItch/Sucrose Non‐Fermentable (SWI/SNF) complex protein(s).
Antonio De Leo +15 more
wiley +1 more source
Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children. [PDF]
Caelles-Gramunt N, Pijuan J.
europepmc +1 more source

