Results 11 to 20 of about 6,133 (182)
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués +3 more
wiley +1 more source
Skin biopsies taken from a patient with an ultra‐rare disorder as well as controls were cultured for up to 473 days. The chunks of skin were serially transferred to a new culture plate when confluent with fibroblasts. Different generations of fibroblasts were analyzed for cell and molecular properties, proliferation, and competence for reprogramming to
Sudiksha Rathan‐Kumar +3 more
wiley +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Meta‐analysis fails to show any correlation between protein abundance and ubiquitination changes
We analyzed over 50 published proteomics datasets to explore the relationship between protein levels and ubiquitination changes across multiple experimental conditions and biological systems. Although ubiquitination is often associated with protein degradation, our analysis shows that changes in ubiquitination do not globally correlate with changes in ...
Nerea Osinalde +3 more
wiley +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Amalia -- A Unified Platform for Parsing and Generation [PDF]
Contemporary linguistic theories (in particular, HPSG) are declarative in nature: they specify constraints on permissible structures, not how such structures are to be computed.
Francez, Nissim +2 more
core +3 more sources
Open Programming Language Interpreters [PDF]
Context: This paper presents the concept of open programming language interpreters and the implementation of a framework-level metaobject protocol (MOP) to support them.
Cazzola, Walter, Shaqiri, Albert
core +2 more sources
Objective This study aimed to characterize the pharmacokinetics, pharmacodynamics, safety, and exploratory efficacy of subcutaneous belimumab in pediatric patients with active systemic lupus erythematosus (SLE) receiving standard therapy. Methods This single‐arm, multicenter, open‐label trial (GSK study 200908; NCT04179032) used three‐weight‐band ...
Hermine I. Brunner +14 more
wiley +1 more source
Cu‐based catalysts as a cornerstone in advancing sustainable energy technologies are fully reviewed in this manuscript, highlighting their potential in photo‐ and electrocatalysis. It includes metallic copper, copper oxides, copper sulfides, copper halide perovskites, copper‐based metal–organic frameworks (MOFs), and covalent organic frameworks (COFs),
Jéssica C. de Almeida +16 more
wiley +1 more source
Highly Selective Toward HER or CO2RR by Regulating Cu Single and Dual Atoms on g‐C3N4
This systematic study provides insights into the design of electrocatalysts for hydrogen evolution reaction (HER) and carbon dioxide reduction (CO2RR). It serves as a useful guide for tuning catalyst architecture toward efficient multifunctional performance by varying synthetic parameters, demonstrating the impact of copper (Cu) species ranging from ...
Wan‐Ting Chen +9 more
wiley +1 more source

