Results 91 to 100 of about 51,102 (238)
Neutron electromagnetic form factors and inclusive scattering of polarized electrons by polarized $^{3}$He and $^{3}$H targets [PDF]
The electromagnetic inclusive responses of polarized $^{3}$He and $^{3}$H are thoroughly investigated at the quasielastic peak for squared momentum transfers up to $2 (GeV/c)^2$, within the plane wave impulse approximation.
Kievsky, A. +3 more
core +2 more sources
Novel GNE mutations in three Chinese patients with typical GNE myo-pathy.
GNE myopathy is an adult-onset muscle disorder featuring distal muscle atrophy and weakness. Rimmed vacuoles found in the muscle biopsies and gene mutations lead to the diagnosis of GNE myopathy. We collected clinical information, performed muscle biopsies and genetic testing on three patients.
Rui, Ban +6 more
openaire +1 more source
Genetic rearrangements resulting in the expression of KMT2A fusion alleles can lead to dramatic transcriptional disturbances that contribute to the onset of acute leukaemias. Fortunately, menin inhibition has emerged as a promising new class of targeted therapy.
Lydia Elaine Roets +2 more
wiley +1 more source
4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease
OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj +1 more source
GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation
GNE myopathy (GNEM) is a late-onset muscle atrophy, caused by mutations in the gene for the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE).
Carolin T Neu +4 more
semanticscholar +1 more source
To evaluate the safety and efficacy of N-acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the rate-limiting enzyme in N-acetylneuraminic acid (Neu5Ac) biosynthesis.
N. Carrillo +21 more
semanticscholar +1 more source
Fluctuations in fluids in thermal nonequilibrium states below the convective Rayleigh-Benard instability [PDF]
Starting from the linearized fluctuating Boussinesq equations we derive an expression for the structure factor of fluids in stationary convection-free thermal nonequilibrium states, taking into account both gravity and finite-size effects.
Ahlers +60 more
core +3 more sources
GlycoChat Uncovers Glycan–Lectin Circuits in the Tumor Microenvironment of Pancreatic Cancer
Aberrant glycosylation drives cancer progression, yet its role in the tumor microenvironment remains unclear. We developed GlycoChat to map glycan–lectin circuits at single‐cell resolution. We discovered that cancer cells induce immunosuppressive macrophage differentiation and impair phagocytosis through interactions with CLEC10A and SIGLEC3 ...
Dinh Xuan Tuan Anh +8 more
wiley +1 more source
Background Advanced maternal age (AMA) has increased in many high-income countries in recent decades. AMA is generally associated with a higher risk of various pregnancy complications, and the underlying molecular mechanisms are largely unknown.
Meng Qin +8 more
doaj +1 more source
Evolution of dust in the Orion Bar with Herschel: I. Radiative transfer modelling [PDF]
Interstellar dust is a key element in our understanding of the interstellar medium and star formation. The manner in which dust populations evolve with the excitation and the physical conditions is a first step in the comprehension of the evolution of ...
A. Abergel +43 more
core +4 more sources

