Results 111 to 120 of about 130,902 (295)
Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.
Clinical and Experimental Immunology, 2022 H. Kuehn, Brigette Boast, S. Rosenzweig
semanticscholar +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Nature Communications, 2017 Variants causing loss of function (LoF) of human genes have clinical implications. Here, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annotation of Loss-of-Function Transcripts) and show its application to ...
Suganthi Balasubramanian +8 more
doaj +1 more source
Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Movement Disorders, EarlyView.Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu +17 more
wiley +1 more source
When person A takes an action that can be interpreted as making an offer to person B and B rejects the offer, then A may lose face. This loss of face (LoF) and consequent disutility will occur only if these actions are common knowledge to A and B ...
David Hugh-Jones, David Reinstein
core
People and Nature, EarlyView.Abstract Conservation performance payments are becoming an increasingly popular instrument to tackle human–wildlife conflicts. In Sweden, Sámi communities practicing reindeer husbandry receive performance payments as compensation for reindeer losses caused by lynxes and wolverines.
Josef Kaiser +3 more
wiley +1 more source
The Prostate, EarlyView.ABSTRACT Background Methyl Methanesulfonate‐Sensitivity Protein 22‐Like (MMS22L) plays a key role in homology‐directed DNA repair, and experimental models have shown that its loss confers sensitivity to Poly (ADP‐ribose) polymerase inhibitors (PARPi).
Mayuko Kanayama +12 more
wiley +1 more source
Coffee and Cocoa Research Journal, 2021 As nitrogen (N) has played an important role in cocoa production, both providing the N-sources alternative materials, and increasing the efficiency of fertilization are urgently required to support both crop and land productivity.
Erwin Prastowo +2 more
doaj
Rare Metals, EarlyView.ABSTRACT Porous NiTi alloys are widely used in biomedical and engineering fields. Using the PBF‐LB technique, the TPMS and Voronoi porous parts with a porosity of ∼67% and a minimum feature size of 0.15 ± 0.02 mm were fabricated. Although the bulk sample fabricated with the same parameters is defect‐free, μ‐CT reconstruction on the porous sample ...
Wen‐Hao Zeng +7 more
wiley +1 more source
Biocarbon Suitability Evaluation for Direct Injection in Blast Furnace Ironmaking
steel research international, EarlyView.This study examines densified biocarbon for direct injection in blast furnace ironmaking to reduce greenhouse gas (GHG). Enhanced burnout performance, along with favorable reactivity and carbon structure of the combustion residue, supports its suitability for blast furnace injection. Modeling results indicate that up to a 27% reduction in GHG emissions
Xianai Huang +3 more
wiley +1 more source