Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Sleeping Beauty mouse models identify candidate genes involved in gliomagenesis. [PDF]
Genomic studies of human high-grade gliomas have discovered known and candidate tumor drivers. Studies in both cell culture and mouse models have complemented these approaches and have identified additional genes and processes important for gliomagenesis.
Irina Vyazunova +12 more
doaj +1 more source
Associations of Sleep and Shift Work With Osteoarthritis Risk
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik +5 more
wiley +1 more source
Bioengineered 3D hPSC‐Cholangiocyte Ducts With Physiological Signals for Biliary Disease Modeling
Tian and colleagues generated a bioengineered bile duct from human pluripotent stem cell (hPSC)‐derived intrahepatic cholangiocytes within a high‐throughput, 384‐well platform to systematically examine the influence of biliary physiological signals including fluid flow, stromal cells and bile acids, and models intrahepatic biliary disease progression ...
Britney Tian +10 more
wiley +1 more source
Reconfigurer les contes pour moraliser autrement
Perrault’s Sleeping Beauty in the manuscript version of 1695 transforms important episodes of Apuleius’ famous ancient tale of Psyche and of Basile’s Turzo d’oro and Sole, Luna e Talia in order to draw a new and “very relevant Moral” from them.
Ute Heidmann
doaj +1 more source
NOTCH1 activation compensates BRCA1 deficiency and promotes triple-negative breast cancer formation
BRCA1 mutation carriers have higher chances of developing triple-negative breast cancer (TNBC). Here, the authors use the Sleeping Beauty mutagenesis system in Brca1 deficient mice and identify 169 putative driver genes, of which NOTCH1 accelerates TNBC ...
Kai Miao +21 more
doaj +1 more source
A nano‐interception strategy disrupts pathogenic fibroblast–macrophage crosstalk in chronic heart failure. Scalable Prussian blue nanoparticles selectively sequester CCL2 via ultrahigh‐affinity binding, preventing CCR2+ macrophage recruitment and breaking a key fibro‐inflammatory circuit. This approach demonstrates robust efficacy in murine and porcine
Bo Chen +16 more
wiley +1 more source
The tale “Sleeping Beauty” by Ch. Perrault in the mirror of libretto by I. A. Vsevolozhsky and M. Petipa [PDF]
The premiere of the world-famous Russian ballet “The Sleeping Beauty”, composed by P. I. Tchaikovsky, I. A. Vsevolozhsky and M. Petipa, took place on the stage of the Mariinsky Theatre on January 3, 1890, and became a significant event in the
Patrakova, Olga Nikolaevna
doaj +1 more source
Sleeping Beauty Reconsidered: Conditioning and Reflection in Asynchronous Systems [PDF]
A careful analysis of conditioning in the Sleeping Beauty problem is done, using the formal model for reasoning about knowledge and probability developed by Halpern and Tuttle.
Halpern, Joseph Y.
core
Chronic Hypoxia Disrupts Spermatogenesis Through ASXL2–EZH2–Mediated Microtubule Destabilization
This study reveals the mechanism by which chronic hypoxia impairs spermatogenesis via the ASXL2–EZH2 axis, hindering the transition of spermatids from round to elongated forms. Key findings reveal that under hypoxic conditions, downregulated ASXL2 expression reduces EZH2 binding to the CEP162 promoter, leading to decreased H3K27me3 modification and ...
Jun Yin +11 more
wiley +1 more source

