Results 121 to 130 of about 4,615,445 (390)
FEBS Letters, EarlyView.Glutaredoxin (Grx) 3 proteins contain a thioredoxin domain and one to three class II Grx domains. These proteins play a crucial role in iron homeostasis in eukaryotic cells. In human Grx3, at least one of the two Grx domains, together with the thioredoxin domain, is essential for its function in iron metabolism.
Laura Magdalena Jordt +4 more
wiley +1 more source
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Nature, 2018 There are thousands of rare human disorders that are caused by single deleterious, protein-coding genetic variants1. However, patients with the same genetic defect can have different clinical presentations2–4, and some individuals who carry known disease-
Mari E. K. Niemi +16 more
semanticscholar +1 more source
Association of genetic variants of GRIN2B with autism [PDF]
Scientific Reports, 2015 AbstractAutism (MIM 209850) is a complex neurodevelopmental disorder characterized by social communication impairments and restricted repetitive behaviors. It has a high heritability, although much remains unclear. To evaluate genetic variants of GRIN2B in autism etiology, we performed a system association study of common and rare variants of GRIN2B ...
Jianjun Ou +14 more
openaire +3 more sources
FEBS Letters, EarlyView.Dimeric pyruvate formate‐lyase cleaves pyruvate using a radical‐based mechanism. G734 serves as a radical storage location, and the radical is transferred to the catalytic C419 residue. Mutation of the C418‐C419 pair causes loss of enzyme activity, but does not impede radical introduction onto G734. Therefore, cis‐ but not trans‐radical transfer occurs
Michelle Kammel +2 more
wiley +1 more source
Pooled Association Tests for Rare Genetic Variants: A Review and Some New Results
, 2014 In the search for genetic factors that are associated with complex heritable human traits, considerable attention is now being focused on rare variants that individually have small effects.
Derkach, Andriy +2 more
core +1 more source
Journal of Pathology, 2019 This article reviews genes and syndromes associated with predisposition to colorectal cancer (CRC), with an overview of gene variant classification. We include updates on the application of preventive and therapeutic measures, focusing on the use of non ...
L. Valle +3 more
semanticscholar +1 more source
FEBS Letters, EarlyView.To explore the impact of the overexpression of the multidrug‐transporter P‐glycoprotein (ABCB1) on membrane fluidity, we compared the transversal gradient of mobility and microviscosity in plasma membranes of drug‐sensitive Chinese hamster ovary cells (AuxB1) and their multidrug‐resistant derivatives (B30) using the fluorescent n‐(9‐anthroyloxy) fatty ...
Roger Busche +2 more
wiley +1 more source
Cancer Informatics, 2013 Background Recent advances in high-throughput genotyping have made possible identification of genetic variants associated with increased risk of developing prostate cancer using genome-wide associations studies (GWAS).
Chindo Hicks +3 more
doaj +1 more source
Evolutionary interplay between viruses and R‐loops
FEBS Letters, EarlyView.Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi +4 more
wiley +1 more source
Common genetic variants influence human subcortical brain structures
Nature, 2015 The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal ...
D. Hibar +286 more
semanticscholar +1 more source