Results 51 to 60 of about 225,006 (303)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
A method to estimate trends in distributions of 1 min rain rates from numerical weather prediction data [PDF]
, 2015 It is known that the rain rate exceeded 0.01% of the time in the UK has experienced an increasing trend over the last 20 years. It is very likely that rain fade and outage experience a similar trend.
Beck C. +6 more
core +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Evaluating Energy Absorption Performance of Filled Lattice Structures
Advanced Engineering Materials, EarlyView.Maximum stress must be considered to robustly evaluate energy absorber designs. This approach was applied to compare all types of absorbers in a single Ashby diagram and determine the utility of filling lattice voids with a second material. High‐performance fillers can improve the performance of lattices that are limited by buckling or catastrophic ...
Christian Bonney +2 more
wiley +1 more source
Robustness of serial clustering of extratropical cyclones to the choice of tracking method
Tellus: Series A, Dynamic Meteorology and Oceanography, 2016 Cyclone clusters are a frequent synoptic feature in the Euro-Atlantic area. Recent studies have shown that serial clustering of cyclones generally occurs on both flanks and downstream regions of the North Atlantic storm track, while cyclones tend to ...
Joaquim G. Pinto +5 more
doaj +1 more source
Can a Measurement of the $B_{s} - {\overline{B}}_{s}$ Mass Difference Establish the CKM Paradigm?
, 1995 We present a reanalysis of the allowed region in the $\rho - \eta \,$ plane of the CKM matrix, which follows from our present knowledge of the theoretical and experimental parameters associated with quark mixing and CP violation.
Abe +23 more
core +1 more source
A rain height model to predict fading due to wet snow on terrestrial links [PDF]
, 2011 Recommendation ITU‐R P.530‐13 provides an internationally recognized prediction model for the fading due to wet snow on low‐elevation, terrestrial microwave links.
Al-Mreri, A. +2 more
core +2 more sources
Advanced Healthcare Materials, EarlyView.We developed a novel copper‐doped aluminum nano‐adjuvant (CuNA) to overcome cytarabine resistance in acute myeloid leukemia (AML). CuNA effectively sensitizes drug‐resistant AML cells to cytarabine by inducing mitochondrial dysfunction and inhibiting HMGCR/GPX4 to amplify ferroptosis.
Chao He +10 more
wiley +1 more source
Environmental Research Letters, 2020 Decreases in terrestrial near-surface wind speed ( NSWS ) were documented in many regions over the past decades. Various drivers have been proposed for this terrestrial stilling, such as weakening of ocean-land pressure gradients related to climate ...
Jun Wang +4 more
doaj +1 more source